Multiple congenital anomalies

Gene Associated Phenotype description and OMIM ID 
CYP17A1 17,20-lyase deficiency, isolated, 202110 
CYP17A1 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 
HSD17B10 17-beta-hydroxysteroid dehydrogenase X deficiency, 300438
DHTKD1 2-aminoadipic 2-oxoadipic aciduria, 204750
ACADSB 2-methylbutyrylglycinuria, 610006 
HSD3B2 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 
CUL7 3-M syndrome 1, 273750
OBSL1 3-M syndrome 2, 612921
MASP1 3MC syndrome 1, 257920
COLEC11 3MC syndrome 2, 265050 
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 
MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 
AUH 3-methylglutaconic aciduria, type I, 250950 
OPA3 3-methylglutaconic aciduria, type III, 258501 
DNAJC19 3-methylglutaconic aciduria, type V, 610198 
SRY 46XX sex reversal 1,400045 
DHH 46XY partial gonadal dysgenesis, with minifascicular neuropathy,607080 
SRY 46XY sex reversal 1,400044 
NR0B1 46XY sex reversal 2,dosage-sensitive,300018 
NR5A1 46XY sex reversal 3,612965 
CBX2 46XY sex reversal 5,613080 
MAP3K1 46XY sex reversal 6,613762 
DHH 46XY sex reversal 7,233420 
AKR1C2 46XY sex reversal 8,614279 
DPYD 5-fluorouracil toxicity, 274270 
OPLAH 5-oxoprolinase deficiency, 260005 
HBA1 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3' Thalassemias, alpha-, 604131 Methemoglobinemias, 
TPMT 6-mercaptopurine sensitivity, 610460 
FGD1 Aarskog-Scott syndrome, 305400
EDNRB ABCD syndrome, 600501
MTTP Abetalipoproteinemia, 200100; Metabolic syndrome, protection against, 605552 
TWIST2 Ablepharon-macrostomia syndrome,200110 
TBX22 Abruzzo-Erickson syndrome, 302905 
ACAD9 ACAD9 deficiency, 611126 
SOX9 Acampomelic campomelic dysplasia,114290 
AAAS Achalasia-addisonianism-alacrimia syndrome,231550 
LMBR1 Acheiropody, 200500
SLC26A2 Achondrogenesis Ib,600972 
TRIP11 Achondrogenesis, type IA, 200600
COL2A1 Achondrogenesis, type II or hypochondrogenesis, 200610
FGFR3 Achondroplasia, 100800
CNGA3 Achromatopsia 2, 216900 
CNGB3 Achromatopsia 3, 262300
GNAT2 Achromatopsia 4, 613856 
PDE6H Achromatopsia 6, 610024 
IGFALS Acid-labile subunit, deficiency of
NCSTN Acne inversa, familial, 1, 142690
PSENEN Acne inversa, familial, 2, 613736
PSEN1 Acne inversa, familial, 3, 613737 
IHH Acrocapitofemoral dysplasia, 607778 Brachydactyly, type A1, 112500
PDE4D Acrocydostosis 2 with or without hormone resistance, 614613 
SLC39A4 Acrodermatitis enteropathica, 201100 
PRKAR1A Acrodysostosis 1 with or without hormone resistance,101800 
SF3B4 Acrofacial dysostosis 1, Nager type, 154400
ATP2A2 Acrokeratosis verruciformis, 101900 
GNAS Acromegaly, 102200
DMP1 Acromesomelic dysplasia, Hunter-Thompson type, 201250
NPR2 Acromesomelic dysplasia, Maroteaux type, 602875
GDF5 Acromesomelic dysplasia,Hunter-Thompson type,201250 
FBN1 Acromicric dysplasia, 102370
GNAS ACTH-independent macronodular adrenal hyperplasia, 219080 
ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 
ARHGAP31 Adams-Oliver syndrome 1,100300 
DOCK6 Adams-Oliver syndrome 2,614219 
RBPJ Adams-Oliver syndrome 3,614814 
EOGT Adams-Oliver syndrome 4, 615297
NOTCH1 Adams-Oliver syndrome 5,616028 
ADSL ade(-)I bifunctional Adenylosuccinase deficiency, 103050 
APRT Adenine phosphoribosyltransferase deficiency, 614723
PARK2 Adenocarcinoma of lung somatic 
EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980
BRAF-ERBB2 Adenocarcinoma of lung, somatic, 211980
RAD54L Adenocarcinoma, colonic, somatic 
APC Adenoma,periampullary,somatic,175100 
PLAG1 Adenomas, salivary gland pleomorphic, 181030
MUTYH Adenomas,multiple colorectal,608456 
APC Adenomatous polyposis coli,175100 
ADA Adenosine deaminase deficiency, partial, 102700 
PKLR Adenosine triphosphate, elevated, of erythrocytes, 102900 
NR5A1 Aderenocortical insufficiency 
SMARCAD1 Adermatoglyphia,136000 
ADIPOQ Adiponectin deficiency, 612556
MEN1 Adrenal adenoma, somatic 
TP53 Adrenal cortical carcinoma, 202300
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 
NR0B1 Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism,300200 
CYP11A1 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 
TBX19 Adrenocorticotropic hormone deficiency, 201400
ABCD1 Adrenoleukodystrophy, 300100
ABCD1 Adrenomyeloneuropathy, adult, 300100 
GCNT2 Adult i phenotype without cataract, 110800 
TP63 ADULT syndrome,103285 
PER2 Advanced sleep phase syndrome, familial, 1, 604348
CSNK1D Advanced sleep-phase syndrome, familial, 2, 615224
FGB Afibrinogenemia, congenital, 202400
FGA Afibrinogenemia, congenital, 202400 
APOB Ag linked Hypobetalipoproteinemia
IGLL1 Agammaglobulinemia 2, 613500
CD79A Agammaglobulinemia 3, 613501
BLNK Agammaglobulinemia 4, 613502 
LRRC8A Agammaglobulinemia 5, 613506
CD79B Agammaglobulinemia 6, 612692
PIK3R1 Agammaglobulinemia 7, autosomal recessive, 615214 
BTK Agammaglobulinemia, X-linked 1, 300755
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy, 218000 
PRRX1 Agnathia-otocephaly complex, 202650
TREX1 Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
RNASEH2B Aicardi-Goutieres syndrome 2, 610181 
RNASEH2C Aicardi-Goutieres syndrome 3, 610329 
RNASEH2A Aicardi-Goutieres syndrome 4, 610333 
SAMHD1 Aicardi-Goutieres syndrome 5, 612952
ADAR Aicardi-Goutieres syndrome 6, 615010 
ATIC AICA-ribosiduria due to ATIC deficiency, 608688 
GMPPA Alacrima, achalasia and mental retardation syndrome, 615510 
NOTCH2 Alagille syndrome 2, 610205
JAG1 Alagille syndrome, 118450
CACNA1F Aland Island eye disease, 300600 
LARP7 Alazami syndrome, 615071 
OCA2 Albinism brown oculocutaneous,203200 
C10orf11 Albinism, oculocutaneous type VII,615179 
TYR Albinism, oculocutaneous, type IA, 203100 
TYR Albinism, oculocutaneous, type IB, 606952 
TYRP1 Albinism, oculocutaneous, type III, 203290 
SLC24A5 Albinism, oculocutaneous, type VI,113750 
ALDH2 Alcohol sensitivity, acute, 610251 
CYP11B1 Aldosteronism, glucocorticoid-remediable, 103900 
GFAP Alexander disease, 203450 
HGD Alkaptonuria, 203500 
SLC16A2 Allan-Herndon-Dudley syndrome, 300523 
HR Alopecia universalis,203655 
RBM28 Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 
HBA1 alpha- Erythremias, alpha- Heinz body anemias, alpha-, 140700 Hemoglobin H disease, nondeletional, 613978
SERPINF2 Alpha-2-plasmin inhibitor deficiency 
ACAT1 Alpha-methylacetoacetic aciduria, 203750 
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 
ATRX Alpha-thalassemia myelodysplasia syndrome, somatic, 300448
ATRX Alpha-thalassemia/mental retardation syndrome, 301040
COL4A5 Alport syndrome, 301050
COL4A3 Alport syndrome, autosomal dominant, 104200 
COL4A4-COL4A3 Alport syndrome, autosomal recessive, 203780
ALMS1 Alstrom syndrome, 203800
ATP1A3 Alternating hemiplegia of childhood 2,614820 
ATP1A2 Alternating hemiplegia of childhood, 104290
FOXF1 Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380
ASPSCR1 Alveolar soft-part sarcoma, 606243
APP Alzheimer disease 1, familial, 104300 
ADAM10 Alzheimer disease 18, susceptibility to,615590 
PLAU Alzheimer disease, late-onset, susceptibility to, 104300
ACE-HFE- MPO Alzheimer disease, susceptibility to, 104300
PSEN1 Alzheimer disease, type 3, 607822 
PSEN1 Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 
PSEN1 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 
PSEN2 Alzheimer disease-4, 606889
WDR72 Amelogenesis imperfecta hypomaturation type IIA3,613211 
FAM83H Amelogenesis imperfecta type 3,130900 
ENAM Amelogenesis imperfecta type IB,104500 
ENAM Amelogenesis imperfecta type IC,204650 
KLK4 Amelogenesis imperfecta type IIA1,204700 
MMP20 Amelogenesis imperfecta type IIA2,612529 
AMELX Amelogenesis imperfecta, type 1E,301200 
C4orf26 Amelogenesis imperfecta, type IIA4,614832 
LAMB3 Amelogenesis imperfecta,type IA,104530 
FAM20A Amelogenesis imperfecta,type IG (enamel-renal syndrome),204690 
DLX3 Amelogenesis imperfecta,type IV,104510 
ACY1 Aminoacylase 1 deficiency, 609924 
ST3GAL5 Amish infantile epilepsy syndrome, 609056 
OSMR Amyloidosis primary localized cutaneous 1,105250 
APOA1 Amyloidosis, 3 or more types, 105200 
GSN Amyloidosis, Finnish type, 105120 
FGA Amyloidosis, hereditary renal, 105200
LYZ Amyloidosis, renal, 105200 
TTR Amyloidosis,hereditary,transthyretin-related,105210 
IL31RA Amyloidosis,primary localized cutaneous 2,613955 
SOD1 Amyotrophic lateral sclerosis 1, 105400 
ALS2 Amyotrophic lateral sclerosis 2, juvenile, 205100
SETX Amyotrophic lateral sclerosis 4, juvenile, 602433 
FUS Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia, 608030
VAPB Amyotrophic lateral sclerosis 8, 608627
ANG Amyotrophic lateral sclerosis 9, 611895 
TARDBP Amyotrophic lateral sclerosis 10, with or without FTD, 612069
FIG4 Amyotrophic lateral sclerosis 11,612577 
OPTN Amyotrophic lateral sclerosis 12, 613435 
VCP Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 
UBQLN2 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 
SIGMAR1 Amyotrophic lateral sclerosis 16, juvenile, 614373 
CHMP2B Amyotrophic lateral sclerosis 17, 614696 
PFN1 Amyotrophic lateral sclerosis 18, 614808 
HNRNPA1 Amyotrophic lateral sclerosis 19, 615426 
ERBB4 Amyotrophic lateral sclerosis 19, 615515 
C9orf72 Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3 
ATXN2 Amyotrophic lateral sclerosis, susceptibility to, 13, 183090 
DCTN1 Amyotrophic lateral sclerosis,susceptibility to,105400 
9-Sep Amyotrophy hereditary neuralgic 
ALB Analbuminemia
KCNJ2 Andersen syndrome, 170390
AR Androgen insensitivity,300068 
AR Androgen insensitivity,partial,with/without breast cancer,312300 
SEC23B Anemia dyserythropoietic congenital type II,224100 
SLC11A2 Anemia hypochromic microcytic 
KLF1 Anemia, dyserythropoietic congenital, type IV, 613673 
NT5C3A Anemia, hemolytic, due to UMPH1 deficiency, 266120 
RHAG Anemia, hemolytic, Rh-null, regulator type, 268150 
SPTB Anemia, neonatal hemolytic, fatal and near-fatal 
GLRX5-SLC25A38 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 
ABCB7 Anemia, sideroblastic, with ataxia, 301310 
ALAS2 Anemia, sideroblastic, X-linked, 300751
MECP2-UBE3A Angelman syndrome, 105830
CDKL5 Angelman syndrome-like, 105830 
SERPING1 Angioedema, hereditary, types I and II, 106100
MEN1 Angiofibroma, somatic
PAX6 Aniridia, 106210
RSPO4 Anonychia congenita,206800 
BDNF Anorexia nervosa, susceptibility to 
FOXE3-PITX3 Anterior segment mesenchymal dysgenesis, 107250
POR Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,201750 
FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410
FBN1 Aortic aneurysm, ascending, and dissection
MYH11 Aortic aneurysm, familial thoracic 4, 132900 
ACTA2 Aortic aneurysm familial thoracic 6,611788 
MYLK Aortic aneurysm, familial thoracic 7, 613780
PRKG1 Aortic aneurysm, familial thoracic 8, 615436
SMAD6 Aortic valve disease 2, 614823 
NOTCH1 Aortic valve disease,109730 
FGFR2 Apert syndrome, 101200
FOXE3 Aphakia, congenital primary, 610256 
GRN Aphasia,primary progressive,607485 
FGF10 Aplasia of lacrimal and salivary glands,180920 
NBN Aplastic anemia, 609135 
BCHE Apnea, postanesthetic
APOA1 ApoA-I and apoC-III deficiency, combined
APOA2 Apolipoprotein A-II deficiency
HSD11B2 Apparent mineralocorticoid excess, 218030
ARG1 Argininemia, 207800 
ASL Argininosuccinic aciduria, 207900 
CYP19A1 Aromatase deficiency, 613546 
CYP19A1 Aromatase excess syndrome, 139300 
DDC Aromatic L-amino acid decarboxylase deficiency, 608643 
TGFB3 Arrhythmogenic right ventricular dysplasia 1, 107970
RYR2 Arrhythmogenic right ventricular dysplasia 2, 600996 
TMEM43 Arrhythmogenic right ventricular dysplasia 5, 604400
DSP Arrhythmogenic right ventricular dysplasia 8,607450 
PKP2 Arrhythmogenic right ventricular dysplasia 9, 609040 
DSG2 Arrhythmogenic right ventricular dysplasia 10, 610193
DSC2 Arrhythmogenic right ventricular dysplasia 11, mild palmoplantar keratoderma and woolly hair,610476 
JUP Arrhythmogenic right ventricular dysplasia 12,611528 
CTNNA3-DES Arrhytmogenic right ventricular dysplasia, familial, 13, 615616 
ABCC6 Arterial calcification generalized of infancy 2,614473 
ENPP1 Arterial calcification,generalized,of infancy 1,208000 
SLC2A10 Arterial tortuosity syndrome,208050 
TPM2 Arthrogryposis multiplex congenita, distal, type 1, 108120
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B, 601680
MYBPC1 Arthrogryposis, distal, type 1B, 614335 Lethal congenital contracture syndrome 4, 614915
MYH3 Arthrogryposis, distal, type 2A, 193700
TPM2 Arthrogryposis, distal, type 2B, 601680
MYH3 Arthrogryposis, distal, type 2B, 601680 
PIEZO2 Arthrogryposis, distal, type 3, 114300 
PIEZO2 Arthrogryposis, distal, type 5, 108145 
ECEL1 Arthrogryposis, distal, type 5D, 615065
GLE1 Arthrogryposis, lethal, with anterior horn cell disease, 611890 
VPS33B Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
VIPAS39 Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
WISP3 Arthropathy, progressive pseudorheumatoid, of childhood, 208230
TNNT3 Arthyrgryposis, distal, type 2B, 601680
PRPS1 Arts syndrome, 301835
ASNS Asparagine synthetase deficiency, 615574 
GOT1 Aspartate aminotransferase, serum level of, QTL1, 614419 
AGA Aspartylglucosaminuria, 208400 
NLGN4X Asperger syndrome susceptibility, X-linked 2, 300497 
RPSA Asplenia, isolated congenital, 271400 
TBX21 Asthma and nasal polyps, 208550
TBX21 Asthma, aspirin-induced, susceptibility to, 208550
ADRB2 Asthma, nocturnal, susceptibility to, 600807
PLA2G7 Asthma, susceptibility to, 600807 
TTPA Ataxia with isolated vitamin E deficiency, 277460 
ATCAY Ataxia, cerebellar, Cayman type, 601238 
APTX Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 
FLVCR1 Ataxia, posterior column, with retinitis pigmentosa, 609033 
MTPAP Ataxia, spastic, 4, 613672 
AFG3L2 Ataxia, spastic, 5, autosomal recessive, 614487 
SETX Ataxia-ocular apraxia-2, 606002
PIK3R5 Ataxia-oculomotor apraxia 3, 615217 
ATM Ataxia-telangiectasia, 208900
MRE11A Ataxia-telangiectasia-like disorder, 604391
SLC26A2 Atelosteogenesis II,256050 
FLNB Atelosteogenesis, type I, 108720
FLNB Atelosteogenesis, type III, 108721
HOXA1 Athabaskan brainstem dysgenesis syndrome, 601536 
ESR1 Atherosclerosis, susceptibility to
PLA2G7 Atopy, susceptibility to, 147050 
TF Atransferrinemia, 209300
KCNQ1 Atrial fibrillation, familial, 3, 607554
KCNE2 Atrial fibrillation, familial, 4, 611493 
NPPA Atrial fibrillation, familial, 6, 612201
KCNA5 Atrial fibrillation, familial, 7, 612240
KCNJ2 Atrial fibrillation, familial, 9, 613980 
SCN5A Atrial fibrillation, familial, 10, 614022 
GJA5 Atrial fibrillation, familial, 11, 614049 
ABCC9 Atrial fibrillation, familial, 12, 614050
SCN1B Atrial fibrillation,familial,13,615366 
SCN2B Atrial fibrillation, familial, 14, 615378
GATA4 Atrial septal defect 2,607941 
MYH6 Atrial septal defect 3, 614089
TBX20 Atrial septal defect 4, 611363 
ACTC1 Atrial septal defect 5, 612794
TLL1 Atrial septal defect 6, 613087 
NKX2-5 Atrial septal defect 7, with or without AV conduction defects, 108900
CITED2 Atrial septal defect 8, 614433 
GATA6 Atrial septal defect 9, 614475
GJA5 Atrial standstill, digenic, 108770 
HR Atrichia with papular lesions,209500 
GJA1 Atrioventricular septal defect 3,600309 
GATA4 Atrioventricular septal defect 4,614430 
GATA6 Atrioventricular septal defect 5, 614474
CRELD1 Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 
CRELD1 Atrioventricular septal defect, susceptibility to, 2, 606217
DRD4 Attention deficit-hyperactivity disorder, 143465 
DRD5 Attention deficit-hyperactivity disorder, susceptibility to, 143465 
IKBKG Atypical mycobacteriosis, familial, 300636
DIAPH3 Auditory neuropathy, autosomal dominant, 1, 609129 
TSHZ1 Aural atresia, congenital, 607842
GNAI3 Auriculocondylar syndrome 1,602483 
PLCB4 Auriculocondylar syndrome 2, 614669 
EDN1 auriculocondylar syndrome 3,615706 
SETD5 Autism (Neale (2012) Nature 485, 242) 
CNTNAP2 Autism susceptibility 15, 612100
MECP2 Autism susceptibility, X-linked 3, 300496
MET Autism suseptibility 9, 611015 
ITCH Autoimmune disease, syndromic multisystem, 613385
NRAS Autoimmune lymphoproliferative syndrome type IV, 614470
FAS Autoimmune lymphoproliferative syndrome, 601859
FASLG Autoimmune lymphoproliferative syndrome, type IB, 601859 
CASP10 Autoimmune lymphoproliferative syndrome, type II, 603909
AIRE Autoimmune polyendocrinopathy syndrome , type I, w/o reversible metaphyseal dysplasia, 240300
TG Autoimmune thyroid disease, susceptibility to, 3, 608175 
PLCG2 Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 
PSMB8 Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040
DRD4 Autonomic nervous system dysfunction
COL2A1 Avascular necrosis of the femoral head, 608805
PITX2 Axenfeld-Rieger syndrome type 1,180500 
FOXC1 Axenfeld-Rieger syndrome, type 3, 602482
ASXL3 Bainbridge-Ropers syndrome, 615485 
ITGA2B BAK platelet antigen Glanzmann thrombasthenia, 273800
FOXE1 Bamforth-Lazarus syndrome,241850 
OCLN Band-like calcification with simplified gyration and polymicrogyria, 251290 
PTEN Bannayan-Riley-Ruvalcaba syndrome, 153480
ACTB Baraitser-Winter syndrome 1, 243310 
ACTG1 Baraitser-Winter syndrome 2, 614583 
TWIST2 Barber-Say syndrome,209885 
BBS1 Bardet-Biedl syndrome 1, 209900 
ARL6 Bardet-Biedl syndrome 1, modifier of, 209900 
BBS2 Bardet-Biedl syndrome 2, 209900 
ARL6 Bardet-Biedl syndrome 3, 209900 
BBS4 Bardet-Biedl syndrome 4, 209900 
BBS5 Bardet-Biedl syndrome 5, 209900 
MKKS Bardet-Biedl syndrome 6,605231 
BBS7 Bardet-Biedl syndrome 7, 209900 
TTC8 Bardet-Biedl syndrome 8, 615985 
BBS9 Bardet-Biedl syndrome 9, 209900 
BBS10 Bardet-Biedl syndrome 10, 209900 
TRIM32 Bardet-Biedl syndrome 11,615988 
BBS12 Bardet-Biedl syndrome 12, 209900 
MKS1 Bardet-Biedl syndrome 13,615990 
CEP290 Bardet-Biedl syndrome 14,615991 
TMEM67 Bardet-Biedl syndrome 14,modifier of,209900 
WDPCP Bardet-Biedl syndrome 15, 615992 
LZTFL1 Bardet-Biedl syndrome 17, 615994 
CIITA Bare lymphocyte syndrome type II, complementation group A, 209920 
TAP1-TAPBP Bare lymphocyte syndrome, type I, 604571
TAP2 Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571
RFX5 Bare lymphocyte syndrome, type II, complementation group C, 209920
RFXAP Bare lymphocyte syndrome, type II, complementation group D, 209920 
RFX5 Bare lymphocyte syndrome, type II, complementation group E, 209920 
ASCC1-CTHRC1 Barrett esophagus/esophageal adenocarcinoma, 614266
MSR1 Barrett esophagus/esophageal adenocarcinoma, 614266 
TAZ Barth syndrome, 302060 
GJB2 Bart-Pumphrey syndrome, 149200 
SLC12A1 Bartter syndrome, type 1, 601678
KCNJ1 Bartter syndrome, type 2, 241200 
CLCNKB Bartter syndrome, type 3, 607364 
BSND Bartter syndrome, type 4a, 602522 
CLCNKA Bartter syndrome, type 4b, digenic, 613090
CLCNKB Bartter syndrome,type 4b,digenic,613090 
TP53 Basal cell carcinoma 7, 614740
PTCH2 Basal cell carcinoma somatic,605462 
SMO Basal cell carcinoma, somatic 
PTCH1 Basal cell carcinoma, somatic, 605462
RASA1 Basal cell carcinoma, somatic, 605462 
PTCH1 Basal cell nevus syndrome, 109400
PTCH2-SUFU Basal cell nevus syndrome,109400 
PDGFRB Basal ganglia calcification idiopathic 4,615007 
SLC20A2 Basal ganglia calcification, idiopathic, 1, 213600 
PDGFB Basal ganglia calcification,idiopathic,5,615483 
MED25 Basel-Vanagait-Smirin-Yosef syndrome,616449 
BCL7A B-cell non-Hodgkin lymphoma, high-grade
FGFR2 Beare-Stevenson cutis gyrata syndrome, 123790
THOC6 Beaulieu-Boycott-Innes syndrome, 613680 
DMD Becker muscular dystrophy, 300376
CDKN1C Beckwith-Wiedemann syndrome, 130650
NSD1 Beckwith-Wiedemann syndrome, 130650 
FGFR2 Bent bone dysplasia syndrome, 614592 
GP1BA Bernard-Soulier syndrome, type A1 (recessive), 231200
GP1BA Bernard-Soulier syndrome, type A2 (dominant), 153670
GP1BB Bernard-Soulier syndrome, type B, 231200
GP9 Bernard-Soulier syndrome, type C, 231200
BEST1 Best macular dystrophy, 153700
BEST1 Bestrophinopathy, 611809
ADRB2 Beta-2-adrenoreceptor agonist, reduced response to 
UPB1 Beta-ureidopropionase deficiency, 613161 
COL6A1-COL6A2-COL6A3 Bethlem myopathy, 158810
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980
SLC10A2 Bile acid malabsorption, primary, 613291
HSD3B7 Bile acid synthesis defect, congenital, 1, 607765 
AKR1D1 Bile acid synthesis defect, congenital, 2, 235555 
CYP7B1 Bile acid synthesis defect, congenital, 3, 613812 
AMACR Bile acid synthesis defect, congenital, 4, 214950 
UGT1A1 Bilirubin, serum level of, QTL1, 601816 
BTD Biotinidase deficiency, 253260 
KCNK9 Birk-Barel mental retardation dysmorphism syndrome, 612292 
FLCN Birt-Hogg-Dube syndrome,135150 
BCS1L Bjornstad syndrome, 262000 
HRAS- FGFR3- RB1 Bladder cancer, somatic, 109800
KRAS Bladder cancer, somatic, 109800 
P2RX1 Bleeding disorder due to P2RX1 defect
P2RY12 Bleeding disorder, platelet-type, 8, 609821
GP6 Bleeding disorder, platelet-type, 11, 614201
ACTN1 Bleeding disorder, platelet-type, 15, 615193
ITGA2B-ITGB3 Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 
GFI1B Bleeding disorder, platelet-type,17, 187900 
FOXL2 Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100
FOXL2 Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100
UBE3B Blepharophimosis-ptosis-intellectual disability syndrome, 615057 
DRD5 Blepharospasm, primary benign, 606798
GCNT2 Blood group, Ii, 110800
ABCB6 Blood group, Langereis system,111600 
A4GALT Blood group, P1Pk system, p phenotype, 111400 
A4GALT Blood group, P1Pk system, P(2) phenotype, 111400 
CD151 Blood group, Raph,179620 
RHCE Blood group, Rhesus, 111690
KLF1 Blood group--Lutheran inhibitor, 111150
BLM Bloom syndrome, 210900 
OPN1LW-OPN1MW Blue cone monochromacy, 303700 
ASXL1 Bohring-Opitz syndrome, 605039
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3) 
SRP72 Bone marrow failure, familial, 614675
PLS3 Bone mineral density QTL18, osteoporosis, 300910 
LRP5 Bone mineral density variability 1, 601884
FLNB Boomerang dysplasia, 112310 
PHF6 Borjeson-Forssman-Lehmann syndrome, 301900 
NR2F1 Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 
HOXA1 Bosley-Salih-Alorainy syndrome, 601536
RLBP1 Bothnia retinal dystrophy, 607475 
EMG1 Bowen-Conradi syndrome, 211180
SIX1 Brachiootic syndrome 3, 608389
PTHLH Brachydactyly type E2,613382 
DMP1 Brachydactyly, type A1, C, 615072 
BMPR1B-DMP1 Brachydactyly, type A2, 112600
BMP2 Brachydactyly, type A2, 112600 
NOG Brachydactyly, type B2, 611377 
DMP1 Brachydactyly, type C, 113100
HOXD13 Brachydactyly, type D, 113200
HOXD13 Brachydactyly, type E, 113300
GDF5 Brachydactyly,type A1,C,615072 
GDF5 Brachydactyly,type A2,112600 
ROR2 Brachydactyly,type B1,113000 
GDF5 Brachydactyly,type C,113100 
HDAC4 Brachydactyly-mental retardation syndrome, 600430 
HOXD13 Brachydactyly-syndactyly syndrome, 610713
PAPSS2 Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 -3 
TRPV4 Brachyolmia type 3, 113500 
RGS9-RGS9BP Bradyopsia, 608415 
APC Brain tumor-polyposis syndrome 2,175100 
BCKDK Branched-chain ketoacid dehydrogenase kinase deficiency, 614923
TFAP2A Branchiooculofacial syndrome, 113620 
EYA1 Branchiootorenal syndrome 1, with or without cataracts, 113650
SIX5 Branchiootorenal syndrome 2, 610896
CHEK2 Breast and colorectal cancer, susceptibility to 
BRIP1 Breast cancer early-onset,114480 
SLC22A18 Breast cancer somatic 
AKT1 Breast cancer somatic,114480 
PPM1D-TP53-ESR1 Breast cancer, 114480
RAD54L Breast cancer, invasive ductal, 114480
CDH1 Breast cancer, lobular, 114480
BRCA2 Breast cancer, male, susceptibility to, 114480
RB1CC1-TSG101-KRAS-PIK3CA Breast cancer, somatic, 114480
CHEK2 Breast cancer, susceptibility to, 114480
PALB2 Breast cancer,susceptibility to,114480 
BRCA2 Breast-ovarian cancer, familial, 2, 612555
RAD51C Breast-ovarian cancer, familial, susceptibility to, 3, 613399 
ZNF469 Brittle cornea syndrome 1,229200 
PRDM5 Brittle cornea syndrome 2, 614170
ATP2A1 Brody myopathy, 601003
SCNN1B Bronchiectasis with or without elevated sweat chloride 1,211400 
SCNN1A Bronchiectasis with or without elevated sweat chloride 2,613021 
SCNN1G Bronchiectasis with or without elevated sweat chloride 3,613071 
CFTR Bronchiestasis with or without elevated sweat chloride 1, modifier of, 211400 
CYLD Brooke-Spiegler syndrome,605041 
SLC52A3 Brown-Vialetto-Van Laere syndrome 1, 211530 
SLC52A2 Brown-Vialetto-Van Laere syndrome 2, 614707 
FKBP10 Bruck syndrome 1,259450 
PLOD2 Bruck syndrome 2, 609220 
SCN5A Brugada syndrome 1, 601144
GPD1L Brugada syndrome 2, 611777 
CACNB2 Brugada syndrome 4, 611876
SCN1B Brugada syndrome 5,612838 
KCNE3 Brugada syndrome 6, 613119
SCN3B Brugada syndrome 7, 613120
HCN4 Brugada syndrome 8, 613123 
MAOA Brunner syndrome, 300615 
F5 Budd-Chiari syndrome, 600880
JAK2 Budd-Chiari syndrome,600880 
BDNF Bulimia nervosa, age of onset of weight loss in,607499
MYC Burkitt lymphoma, 113970
LEMD3 Buschke-Ollendorff syndrome,166700 
CD96 C syndrome, 211750
C1QA-C1QB-C1QC C1q deficiency, 613652
C1S C1s deficiency, 613783
C2 C2 deficiency, 217000
C3 C3 deficiency, 613779
LDLR C3 Hypercholesterolemia, familial, 143890
C4A C4a deficiency, 614380
C4B C4B deficiency, 614379
C5 C5 deficiency, 609536
C6 C6 deficiency, 612446
C7 C7 deficiency, 610102
C8A C8 deficiency, type I, 613790
C8B C8 deficiency, type II, 613789 
C9 C9 deficiency, 613825
COL1A1 Caffey disease, 114000 
NT5E Calcification of joints and arteries, 211800 
SOX9 Campomelic dysplasia with autosomal sex reversal,114290 
SOX9 Campomelic dysplasia,114290 
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250
TGFB1 Camurati-Engelmann disease, 131300
ASPA Canavan disease, 271900
CARD9 Candidiasis, familial, 2, autosomal recessive, 212050
CLEC7A Candidiasis, familial, 4, autosomal recessive, 613108
IL17RA Candidiasis, familial, 5, autosomal recessive, 613953
IL17F Candidiasis, familial, 6, autosomal dominant, 613956
TPM3 CAP myopathy 1, 609284
TPM2 CAP myopathy 2, 609285 
RASA1 Capillary malformation-arteriovenous malformation, 608354
GNAQ Capillary malformations,congenital,1, somatic,mosaic,163000 
ATP1A3 CAPOS syndrome,601338 
HTRA1 CARASIL syndrome,600142 
CPS1 Carbamoylphosphate synthetase I deficiency, 237300
CES1 Carboxylesterase 1 deficiency
CPN1 Carboxypeptidase N deficiency, 212070
MEN1 Carcinoid tumor of lung
SDHD Carcinoid tumors, intestinal, 114900
ANK2 Cardiac arrhythmia, ankyrin-B-related, 600919 
SCN1B Cardiac conduction defect,nonspecific,612838 
FLNA Cardiac valvular dysplasia, X-linked, 314400
SCO2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
COX15 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 
BRAF Cardiofaciocutaneous syndrome, 115150
KRAS Cardiofaciocutaneous syndrome 2, 615278 
MAP2K1 Cardiofaciocutaneous syndrome 3, 615279 
MAP2K2 Cardiofaciocutaneous syndrome 4, 615280 
LDB3 Cardiomyopathy, dilated 1C, 601493
DSG2 Cardiomyopathy, dilated, 1BB, 612877 
NEXN Cardiomyopathy, dilated, 1CC, 613122
TNNT2 Cardiomyopathy, dilated, 1D, 601494
RBM20 Cardiomyopathy, dilated, 1DD, 613172 
SCN5A Cardiomyopathy, dilated, 1E, 601154
MYH6 Cardiomyopathy, dilated, 1EE, 613252
TNNI3 Cardiomyopathy, dilated, 1FF, 613286 
TTN Cardiomyopathy, dilated, 1G, 604145
SDHA Cardiomyopathy, dilated, 1GG, 613642
BAG3 Cardiomyopathy, dilated, 1HH, 613881 
CRYAB Cardiomyopathy, dilated, 1II, 615184 
EYA4 Cardiomyopathy, dilated, 1J, 605362 
LAMA4 Cardiomyopathy, dilated, 1JJ, 615235 
MYPN Cardiomyopathy, dilated, 1KK, 615248
SGCD Cardiomyopathy, dilated, 1L, 606685 
PRDM16 Cardiomyopathy, dilated, 1LL, 615373 
CSRP3 Cardiomyopathy, dilated, 1M, 607482
MYBPC3 Cardiomyopathy, dilated, 1MM, 615396
TCAP Cardiomyopathy, dilated, 1N, 607487 
ABCC9 Cardiomyopathy, dilated, 1O, 608569
PLN Cardiomyopathy, dilated, 1P, 609909
ACTC1 Cardiomyopathy, dilated, 1R, 613424
MYH7 Cardiomyopathy, dilated, 1S, 613426
MPO Cardiomyopathy, dilated, 1T, 613740 
PSEN1 Cardiomyopathy, dilated, 1U, 613694 
PSEN2 Cardiomyopathy, dilated, 1V, 613697 
VCL Cardiomyopathy, dilated, 1W, 611407
FKTN Cardiomyopathy, dilated, 1X, 611615
TPM1 Cardiomyopathy, dilated, 1Y, 611878
TNNC1 Cardiomyopathy, dilated, 1Z, 611879
TNNI3 Cardiomyopathy, dilated, 2A, 611880
GATAD1 Cardiomyopathy, dilated, 2B, 614672
DMD Cardiomyopathy, dilated, 3B, 302045 
DSP Cardiomyopathy, dilated, with woolly hair and keratoderma,605676 
CAV3 Cardiomyopathy, familial hypertrophic, 192600
MYH7 Cardiomyopathy, familial hypertrophic, 1, 192600
TNNT2 Cardiomyopathy, familial hypertrophic, 2, 115195
TPM1 Cardiomyopathy, familial hypertrophic, 3, 115196
MYBPC3 Cardiomyopathy, familial hypertrophic, 4, 115197
PRKAG2 Cardiomyopathy, familial hypertrophic 6, 600858
TNNI3 Cardiomyopathy, familial hypertrophic, 7, 613690
MYL3 Cardiomyopathy, familial hypertrophic, 8, 608751 
TTN Cardiomyopathy, familial hypertrophic, 9, 613765
MYL2 Cardiomyopathy, familial hypertrophic, 10, 608758 
ACTC1 Cardiomyopathy, familial hypertrophic, 11, 612098
CSRP3 Cardiomyopathy, familial hypertrophic, 12, 612124 
TNNC1 Cardiomyopathy, familial hypertrophic, 13, 613243 
MYH6 Cardiomyopathy, familial hypertrophic, 14, 613251
VCL Cardiomyopathy, familial hypertrophic, 15, 613255 
MYOZ2 Cardiomyopathy, familial hypertrophic, 16, 613838
JPH2 Cardiomyopathy, familial hypertrophic 17, 613873 
PLN Cardiomyopathy, familial hypertrophic, 18, 613874 
CALR3 Cardiomyopathy, familial hypertrophic, 19, 613875 
NEXN Cardiomyopathy, familial hypertrophic, 20, 613876 
TNNI3 Cardiomyopathy, familial restrictive, 115210
TNNT2 Cardiomyopathy, familial restrictive, 3, 612422
MYPN Cardiomyopaty, familial restrictive 4, 615248 
MYLK2 Cardiomyopathy, hypertrophic, midventricular, digenic, 192600
LMNA Cardiomyopathy,dilated,1A,115200 
MYPN Cardiomypathy, familial hypertrophic, 22, 615248
MYH8 Carney complex variant,608837 
PRKAR1A Carney complex,type 1,160980 
SLC22A5 Carnitine deficiency, systemic primary, 212140 
SLC25A20 Carnitine-acylcarnitine translocase deficiency, 212138 
PPARG Carotid intimal medial thickness 1, 609338 
TTR Carpal tunnel syndrome,familial,115430 
RAB23 Carpenter syndrome,201000 
MEGF8 Carpenter syndrome 2, 614976
GJA8 Cataract 1, multiple types, 116200 
CRYGC Cataract 2, multiple types, 604307 
CRYBB2 Cataract 3, multiple types, 601547 
CRYGD Cataract 4, multiple types, 115700 
HSF4 Cataract 5, multiple types, 116800 
EPHA2 Cataract 6, multiple types, 116600 
CRYAA Cataract 9, multiple types, 604219 
CRYBA1 Cataract 10, multiple types, 600881 
BFSP2 Cataract 12, multiple types, 611597 
GCNT2 Cataract 13 with adult i phenotype, 110800
GJA3 Cataract 14, multiple types, 601885 
MIP Cataract 15, multiple types, 615274 
CRYAB Cataract 16, multiple types, 613763
CRYBB1 Cataract 17, multiple types, 611544 
FYCO1 Cataract 18, autosomal recessive, 610019 
LIM2 Cataract 19, 615277 
CRYGS Cataract 20, multiple types, 116100 
CRYBB3 Cataract 22, autosomal recessive, 609741 
CRYBA4 Cataract 23, 610425 
VIM Cataract 30, pulverulent, 116300 
CHMP4B Cataract 31, multiple types, 605387 
BFSP1 Cataract 33, 611391 
TDRD7 Cataract 36, 613887 
CRYGB Cataract 39, multiple types, autosomal dominant, 615188 
NHS Cataract 40, X-linked, 302200 
WFS1 Cataract 41,116400 
PAX6 Cataract with late-onset corneal dystrophy, 106210
AGL Cataract, autosomal recessive congenital 5, 614691 
SLC16A12 Cataract, juvenile, with microcornea and glucosuria, 612018
MAF Cataract, pulverulent or cerulean, with or without microcornea, 610202 
FGFR3 CATSHL syndrome, 610474
AXIN1 Caudal duplication anomaly, 607864 
VANGL1 Caudal regression syndrome, 600145
KRIT1 Cavernous malformations of CNS and retina 
CD8A CD8 deficiency, familial, 608957
LRP4 Cenani-Lenz syndactyly syndrome, 212780
RYR1 Central core disease, 117000
PHOX2B Central hypoventilation syndrome congenital with or without Hirschsprung disease 
GDNF Central hypoventilation syndrome, 209880
ASCL1-BDNF-EDN3 Central hypoventilation syndrome, congenital, 209880
RNF216 Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
CA8 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 
CP Cerebellar ataxia, 604290 
WDR81 Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185 
CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation, 614756 
VLDLR Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 
CST3 Cerebral amyloid angiopathy, 105150
APP Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, 125310
PDCD10 Cerebral cavernous malformations 3, 603285
CCM2 Cerebral cavernous malformations-2 
SLC6A8 Cerebral creatine deficiency syndrome 1, 300352 
GAMT Cerebral creatine deficiency syndrome 2, 612736 
GATM Cerebral creatine deficiency syndrome 3, 612718 
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 
GAD1 Cerebral palsy, spastic quadriplegic, 1, 603513 
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 
ERCC6 Cerebrooculofacioskeletal syndrome 1, 214150
ERCC2 Cerebrooculofacioskeletal syndrome 2, 610756 
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758
CYP27A1 Cerebrotendinous xanthomatosis, 213700 
SERPINA3 Cerebrovascular disease, occlusive
PPT1 Ceroid lipofuscinosis, neuronal, 1, 256730 
TPP1 Ceroid lipofuscinosis, neuronal, 2, 204500 
CLN3 Ceroid lipofuscinosis, neuronal, 3, 204200 
DNAJC5 Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
CLN5 Ceroid lipofuscinosis, neuronal, 5, 256731 
CLN6 Ceroid lipofuscinosis, neuronal, 6, 601780
MFSD8 Ceroid lipofuscinosis, neuronal, 7, 610951 
CLN8 Ceroid lipofuscinosis, neuronal, 8, 600143
CLN8 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 
CTSD Ceroid lipofuscinosis, neuronal, 10, 610127 
CTSF Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 
CLN6 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 
GRN Ceroid lipofuscinosis,neuronal,11,614706 
FGFR3 Cervical cancer, somatic, 603956
OTC CGD Ornithine transcarbamylase deficiency, 311250 
ABHD5 Chanarin-Dorfman syndrome, 275630 
TFAP2B Char syndrome, 169100 
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 20, 614228
DNM2 Charcot-Marie-Tooth disease, axonal, type 2M, 606482 
AARS Charcot-Marie-Tooth disease, axonal, type 2N, 613287 
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P, 614436 
DHTKD1 Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 
DNM2 Charcot-Marie-Tooth disease, dominant intermediate B, 606482 
YARS Charcot-Marie-Tooth disease, dominant intermediate C, 608323
GNB4 Charcot-Marie-Tooth disease, dominant intermediate F, 615185
HOXD10 Charcot-Marie-Tooth disease, foot deformity of, 192950 
KARS Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
PMP22 Charcot-Marie-Tooth disease, type 1A, 118220
MPZ Charcot-Marie-Tooth disease, type 1B, 118200
LITAF Charcot-Marie-Tooth disease, type 1C, 601098
NEFL Charcot-Marie-Tooth disease, type 1F,607734 
MFN2 Charcot-Marie-Tooth disease, type 2A2, 609260 
MED25 Charcot-Marie-Tooth disease, type 2B2, 605589
GARS Charcot-Marie-Tooth disease, type 2D, 601472
NEFL Charcot-Marie-Tooth disease, type 2E, 607684 
MPZ Charcot-Marie-Tooth disease, type 2I, 607677 
MPZ Charcot-Marie-Tooth disease, type 2J, 607736 
GDAP1 Charcot-Marie-Tooth disease, type 4A, 214400 
MTMR2 Charcot-Marie-Tooth disease, type 4B1, 601382 
SBF2 Charcot-Marie-Tooth disease, type 4B2, 604563
SH3TC2 Charcot-Marie-Tooth disease, type 4C, 601596
NDRG1 Charcot-Marie-Tooth disease, type 4D, 601455
FGD4 Charcot-Marie-Tooth disease, type 4H, 609311 
FIG4 Charcot-Marie-Tooth disease, type 4J, 611228 
PRPS1 Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070
DNAJB2 Charcot-Marie-Tooth disease,axonal, type 2T,616233 
HSPB1 Charcot-Marie-Tooth disease,axonal,type 2F,606595 
GDAP1 Charcot-Marie-Tooth disease,axonal,type 2K,607831 
HSPB8 Charcot-Marie-Tooth disease,axonal,type 2L,608673 
IGHMBP2 Charcot-Marie-Tooth disease,axonal,type 2S,616155 
GDAP1 Charcot-Marie-Tooth disease,axonal,with vocal cord paresis,607706 
MPZ Charcot-Marie-Tooth disease,dominant intermediate D,607791 
INF2 Charcot-Marie-Tooth disease,dominant intermediate E,614455 
PLEKHG5 Charcot-Marie-Tooth disease,recessive intermediate C,615376 
GDAP1 Charcot-Marie-Tooth disease,recessive intermediate,A,608340 
EGR2 Charcot-Marie-Tooth disease,type 1D,607678 
PMP22 Charcot-Marie-Tooth disease,type 1E,118300 
KIF1B Charcot-Marie-Tooth disease,type 2A1,118210 
RAB7A Charcot-Marie-Tooth disease,type 2B, 600882 
LMNA Charcot-Marie-Tooth disease,type 2B1,605588 
PRX Charcot-Marie-Tooth disease,type 4F,614895 
GJB1 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 
CHD7-SEMA3E CHARGE syndrome, 214800
LYST Chediak-Higashi syndrome, 214500
SH3BP2 Cherubism, 118400 
TREX1 Chilblain lupus, 610448
NSDHL CHILD syndrome, 308050
PIGL CHIME syndrome, 280000 
PTPN14 Choanal atresia and lymphedema,613611 
ABCB11 Cholestasis, benign recurrent intrahepatic, 2, 605479 
ATP8B1 Cholestasis, benign recurrent intrahepatic, 243300 
ATP8B1 Cholestasis, intrahepatic, of pregnancy, 1, 147480 
ABCB4 Cholestasis, intrahepatic, of pregnancy, 3, 614972 
ATP8B1 Cholestasis, progressive familial intrahepatic 1, 211600 
ABCB11 Cholestasis, progressive familial intrahepatic 2, 601847 
ABCB4 Cholestasis, progressive familial intrahepatic 3, 602347 
TJP2 Cholestasis, progressive familial intrahepatic 4, 615878 
LIPA Cholesteryl ester storage disease, 278000 
ANKH Chondrocalcinosis 2, 118600 
GNPAT Chondrodysplasia punctata, rhizomelic, type 2, 222765 
EBP Chondrodysplasia punctata, X-linked dominant, 302960 
ARSE Chondrodysplasia punctata, X-linked recessive, 302950 
IMPAD1 Chondrodysplasia with joint dislocations, GRAPP type, 614078 
HDAC6 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863
PTH1R Chondrodysplasia, Blomstrand type, 215045 
DMP1 Chondrodysplasia, Grebe type, 200700
GDF5 Chondrodysplasia,Grebe type,200700 
NR4A3 Chondrosarcoma extraskeletal myxoid 
EXT1 Chondrosarcoma, 215300 
NKX2-1 Chorea, hereditary benign, 118700
VPS13A Choreoacanthocytosis, 200150 
NKX2-1 Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 
PRPH2 Choriodal dystrophy, central areolar 2, 613105 
TP53 Choroid plexus papilloma, 260500
CHM Choroideremia, 303100 
MEF2C Chromosome 5q14.3 deletion syndrome, 613443 
BMPR1B Chrondrodysplasia, acromesomelic, with genital anomalies, 609441 
NCF1 Chronic granulomatous disease due to deficiency of NCF-1, 233700
NCF2 Chronic granulomatous disease due to deficiency of NCF-2, 233710
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690
CYBB Chronic granulomatous disease, X-linked, 306400
GPSM2 Chudley-McCullough syndrome, 604213 
SAR1B Chylomicron retention disease, 246700
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 
DNAAF3 Ciliary dyskinesia, primary, 2, 606763 
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 
HYDIN Ciliary dyskinesia, primary, 5, 608647 
NME8 Ciliary dyskinesia, primary, 6, 610852 
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 
DNAI2 Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 
DNAAF2 Ciliary dyskinesia, primary, 10, 612518 
RSPH4A Ciliary dyskinesia, primary, 11, 612649 
RSPH9 Ciliary dyskinesia, primary, 12, 612650 
DNAAF1 Ciliary dyskinesia, primary, 13, 613193 
CCDC39 Ciliary dyskinesia, primary, 14, 613807 
CCDC40 Ciliary dyskinesia, primary, 15, 613808 
DNAL1 Ciliary dyskinesia, primary, 16, 614017 
CCDC103 Ciliary dyskinesia, primary, 17, 614679 
HEATR2 Ciliary dyskinesia, primary, 18, 614874 
LRRC6 Ciliary dyskinesia, primary, 19, 614935 
CCDC114 Ciliary dyskinesia, primary, 20, 615067 
DRC1 Ciliary dyskinesia, primary, 21, 615294 
ZMYND10 Ciliary dyskinesia, primary, 22, 615444 
ARMC4 Ciliary dyskinesia, primary, 23, 615451 
RSPH1 Ciliary dyskinesia, primary, 24, 615481 
DYX1C1 Ciliary dyskinesia, primary, 25, 615482 
C21orf59 Ciliary dyskinesia, primary, 26, 615500 
CCDC65 Ciliary dyskinesia, primary, 27, 615504 
SPAG1 Ciliary dyskinesia, primary, 28, 615505 
NLRP3 CINCA syndrome, 607115 
PHKG2 Cirrhosis due to liver phosphorylase kinase deficiency 
KRT18-KRT8 Cirrhosis, cryptogenic
KRT18-KRT8 Cirrhosis, noncryptogenic, susceptibility to, 215600 
CIRH1A Cirrhosis, North American Indian childhood type, 604901
ASS1 Citrullinemia, 215700 
SLC25A13 Citrullinemia, adult-onset type II, 603471 
SLC25A13 Citrullinemia, type II, neonatal-onset, 605814 
NSDHL CK syndrome, 300831 
PVRL1 Cleft lip/palate-ectodermal dysplasia syndrome,225060 
SATB2 Cleft palate and mental retardation, 119540 
TBX22 Cleft palate with ankyloglossia, 303400
RUNX2 Cleidocranial dysplasia, forme fruste,dental anomalies only,119600 
RUNX2 Cleidocranial dysplasia, forme fruste,with brachydactyly,119600 
RUNX2 Cleidocranial dysplasia,119600 
CYP2C19 Clopidogrel impaired responsiveness to 
PITX1 Clubfoot, congenital, with/without deficiency of long bones and/or mirror-image polydactyly, 119800 
CC2D2A-RPGRIP1L-TMEM67 COACH syndrome,216360 
ERCC8 Cockayne syndrome, type A, 216400
ERCC6 Cockayne syndrome, type B, 133540
CHUK Cocoon syndrome,613630 
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426
PDSS1 Coenzyme Q10 deficiency, primary, 2, 614651 
PDSS2 Coenzyme Q10 deficiency, primary, 3, 614652
ADCK3 Coenzyme Q10 deficiency, primary, 4, 612016 
COQ9 Coenzyme Q10 deficiency, primary, 5, 614654 
COQ6 Coenzyme Q10 deficiency, primary, 6, 614650
RPS6KA3 Coffin-Lowry syndrome, 303600
SCN8A Cognitive impairment with or without cerebellar ataxia, 614306
VPS13B Cohen syndrome, 216550 
NLRP3 Cold-induced autoinflammatory syndrome, familial, 120100
CLCF1 Cold-induced sweating syndrome 1, 610313
CRLF1 Cold-induced sweating syndrome, 272430
ENPP1 Cole disease,615522 
PAX6 Coloboma of optic nerve, 120430
YAP1 Coloboma, ocular with or without hearing impairment, cleft lip/palate and mental retardation, 120433 
PAX6 Coloboma, ocular, 120200
RAD54B Colon adenocarcinoma 
PTPN12 Colon cancer
SRC Colon cancer, advanced
PTPRJ Colon cancer, somatic, 114500
OPN1MW Colorblindness, deutan, 303800
OPN1LW Colorblindness, protan, 303900
OPN1SW Colorblindness, tritan, 190900
BAX-MCC Colorectal cancer
PMS2 Colorectal cancer hereditary nonpolyposis type 4,614337 
AXIN2 Colorectal cancer somatic,114500 
BUB1 Colorectal cancer with chromosomal instability
TP53 Colorectal cancer, 114500
MSH6 Colorectal cancer, hereditary nonpolyposis, type 5, 614350
TGFBR2 Colorectal cancer, hereditary nonpolyposis, type 6, 614331
MLH3 Colorectal cancer, hereditary nonpolyposis, type 7, 614385
EPCAM Colorectal cancer, hereditary nonpolyposis, type 8, 613244 
BRAF-DLC1 Colorectal cancer, somatic
BUB1B-DCC- FGFR3-MLH3-CTNNB1-EP300-NRAS-PDGFRL-PIK3CA-APC-FLCN Colorectal cancer, somatic, 114500
AKT1 Colorectal cancer, somatic,114500 
TLR4 Colorectal cancer, susceptibility to, 114500 
MSH2 Colorectal cancer,hereditary,nonpolyposis type 1,120435 
MLH1 Colorectal cancer,hereditary,nonpolyposis type 2,609310 
POLD1 Colorectal cancer,susceptibility to,10,612591 
MUTYH Colorectal denomatous polyposis,autosomal recessive,with pilomatricomas,132600 
SLC25A1 Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 
LMAN1 Combined factor V and VIII deficiency, 227300
LPL Combined hyperlipidemia, familial, 144250 
ACSF3 Combined malonic and methylmalonic aciduria, 614265 
GFM1 Combined oxidative phosphorylation deficiency 1, 609060
MRPS16 Combined oxidative phosphorylation deficiency 2, 610498
TSFM Combined oxidative phosphorylation deficiency 3, 610505
TUFM Combined oxidative phosphorylation deficiency 4, 610678
MRPS22 Combined oxidative phosphorylation deficiency 5, 611719 
AIFM1 Combined oxidative phosphorylation deficiency 6, 300816
C12orf65 Combined oxidative phosphorylation deficiency 7, 613559 
AARS2 Combined oxidative phosphorylation deficiency 8, 614096
MRPL3 Combined oxidative phosphorylation deficiency 9, 614582
MTO1 Combined oxidative phosphorylation deficiency 10, 614702
RMND1 Combined oxidative phosphorylation deficiency 11, 614922 
EARS2 Combined oxidative phosphorylation deficiency 12, 614924
PNPT1 Combined oxidative phosphorylation deficiency 13, 614932
FARS2 Combined oxidative phosphorylation deficiency 14, 614946 
MTFMT Combined oxidative phosphorylation deficiency 15, 614947
ELAC2 Combined oxidative phosphorylation deficiency 17, 615440 
SFXN4 Combined oxidative phosphorylation deficiency 18, 615578 
PSAP Combined SAP deficiency, 611721
IKBKB Combined T-cell and B-cell immunodeficiencies 
CFD Complement factor D deficiency, 613912
CFI Complement factor I deficiency, 610984
MMAB complementation type, 251110 
GUCA1A Cone dystrophy 3, 602093
PDE6C Cone dystrophy 4, 613093 
ABCA4 Cone-rod dystrophy 3, 604116
PITPNM3 Cone-rod dystrophy 5, 600977
GUCY2D Cone-rod dystrophy 6, 601777 
RIMS1 Cone-rod dystrophy 7, 603649 
ADAM9 Cone-rod dystrophy 9, 612775 
SEMA4A Cone-rod dystrophy 10, 610283
RAX2 Cone-rod dystrophy 11, 610381 
PROM1 Cone-rod dystrophy 12, 612657
RPGRIP1 Cone-rod dystrophy 13, 608194 
GUCA1A Cone-rod dystrophy 14, 602093 
CDHR1 Cone-rod dystrophy 15, 613660
C8orf37 Cone-rod dystrophy 16, 614500 
RAB28 Cone-rod dystrophy 18, 615374 
AIPL1 Cone-rod dystrophy, 604393 
RPGR Cone-rod dystrophy, X-linked, 1, 304020 
CACNA1F Cone-rod dystropy, X-linked, 3, 300476
CRX Cone-rod retinal dystrophy-2, 120970
CFTR Congenital bilateral absence of vas deference, 277180 
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy, 604168 
SLC33A1 Congenital cataracts, hearing loss, and neurodegeneration, 614482 
SLC35A1 Congenital disorder of glycosylation, type 2f, 603585 
COG5 Congenital disorder of glycosylation, type 2i, 613612 
COG4 Congenital disorder of glycosylation, type 2j, 613189 
COG6 Congenital disorder of glycosylation, type 2l, 614576 
SLC35A2 Congenital disorder of glycosylation, type 2m, 300896 
PMM2 Congenital disorder of glycosylation, type Ia, 212065 
MPI Congenital disorder of glycosylation, type Ib, 602579 
ALG3 Congenital disorder of glycosylation, type Id, 601110 
DPM1 Congenital disorder of glycosylation, type Ie, 608799 
MPDU1 Congenital disorder of glycosylation, type If, 609180 
ALG12 Congenital disorder of glycosylation, type Ig, 607143 
ALG8 Congenital disorder of glycosylation, type Ih, 608104
ALG2 Congenital disorder of glycosylation, type Ii, 607906 
MGAT2 Congenital disorder of glycosylation, type IIa, 212066 
SLC35C1 Congenital disorder of glycosylation, type IIc, 266265 
B4GALT1 Congenital disorder of glycosylation, type IId, 607091 
COG7 Congenital disorder of glycosylation, type IIe, 608779 
COG1 Congenital disorder of glycosylation, type IIg, 611209 
COG8 Congenital disorder of glycosylation, type IIh, 611182 
TMEM165 Congenital disorder of glycosylation, type IIk, 614727 
DPAGT1 Congenital disorder of glycosylation, type Ij, 608093
ALG9 Congenital disorder of glycosylation, type Il, 608776 
DOLK Congenital disorder of glycosylation, type Im, 610768 
RFT1 Congenital disorder of glycosylation, type In, 612015 
DPM3 Congenital disorder of glycosylation, type Io, 612937 
ALG11 Congenital disorder of glycosylation, type Ip, 613661 
SRD5A3 Congenital disorder of glycosylation, type Iq, 612379
DDOST Congenital disorder of glycosylation, type Ir, 614507 
ALG13 Congenital disorder of glycosylation, type Is, 300884 
PGM1 Congenital disorder of glycosylation, type It, 614921 
DPM2 Congenital disorder of glycosylation, type Iu, 615042 
MOGS Congenital disorder of gycosylation, type 2b, 606056 
ALG6 Congenital disorder, type Ic, 603147 
TDGF1 Congenital heart defects (Roessler (2008) Am J Hum Genet 83, 18) 
ZIC3 Congenital heart defects, nonsyndromic, 1, X-linked, 306955
TAB2 Congenital heart defects, nonsyndromic, 2, 614980
HRAS Congenital myopathy with excess of muscle spindles, 218040
FLNA Congenital short bowel syndrome, 300048 
CLMP Congenital short bowel syndrome, 615237
TBX1 Conotruncal anomaly face syndrome, 217095
SFTPA2 contiguous with SFTPA1 Pulmonary fibrosis, idiopathic, 178500
FBN2 Contractural arachnodactyly, congenital, 121050
PRRT2 Convulsions,familial infantile,with paroxysmal choreoathetosis,602066 
MMP1 COPD, rate of decline of lung function in, 606963
CPOX Coproporphyria, 121300 
KERA Cornea plana congenita, recessive, 217300 
APOA1 Corneal clouding, autosomal recessive
TGFBI Corneal dystrophy, Avellino type, 607541 
DCN Corneal dystrophy, congenital stromal, 610048 
TGFBI Corneal dystrophy, epithelial basement membrane, 121820 
COL8A2 Corneal dystrophy, Fuchs endothelial, 1, 136800 
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4, 613268 
ZEB1 Corneal dystrophy, Fuchs endothelial, 6, 613270 
AGBL1 Corneal dystrophy, Fuchs endothelial, 8, 615523 
TACSTD2 Corneal dystrophy, gelatinous drop-like, 204870 
TGFBI Corneal dystrophy, Groenouw type I, 121900 
TGFBI Corneal dystrophy, lattice type I, 122200 
TGFBI Corneal dystrophy, lattice type IIIA, 608471 
VSX1 Corneal dystrophy, posterior polymorphous, 1, 122000 
COL8A2 Corneal dystrophy, posterior polymorphous 2, 609140 
ZEB1 Corneal dystrophy, posterior polymorphous, 3, 609141 
TGFBI Corneal dystrophy, Reis-Bucklers type, 608470 
UBIAD1 Corneal dystrophy, Schnyder type, 121800 
TGFBI Corneal dystrophy, Thiel-Behnke type, 602082 
SLC4A11 Corneal endothelial dystrophy 2, autosomal recessive, 217700 
SLC4A11 Corneal endothelial dystrophy and perceptive deafness, 217400 
PIKFYVE Corneal fleck dystrophy, 121850 
NIPBL Cornelia de Lange syndrome 1, 122470 
SMC1A Cornelia de Lange syndrome 2, 300590 
SMC3 Cornelia de Lange syndrome 3, 610759
RAD21 Cornelia de Lange syndrome 4, 614701 
HDAC8 Cornelia de Lange syndrome 5, 300882 
ABCA1 Coronary artery disease in familial hypercholesterolemia, protection against, 143890 
CD36 Coronary heart disease, susceptibility to, 7, 610938 
IGBP1 Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 
L1CAM Corpus callosum, partial agenesis of, 304100 
TUBB3 Cortical dysplasia, complex, with other brain malformations 1, 614039 
KIF2A Cortical dysplasia, complex, with other brain malformations 3, 615411
TUBG1 Cortical dysplasia, complex, with other brain malformations 4, 615412
TUBB2A Cortical dysplasia, complex, with other brain malformations 5, 615763 
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome, 610042
LAMC3 Cortical malformations, occipital, 614115 
SERPINA6 Corticosteroid-binding globulin deficiency 
H6PD Cortisone reductase deficiency 1, 604931 
HSD11B1 Cortisone reductase deficiency 2, 614662 
HRAS Costello syndrome, 218040
CYP2A6 Coumarin resistance, 122700
TBX15 Cousin syndrome, 260660
AIFM1 Cowchock syndrome, 310490 
PTEN Cowden syndrome 1, 158350
SDHB Cowden syndrome 2, 612359
SDHD Cowden syndrome 3, 615106 
KLLN Cowden syndrome 4,615107 
AKT1 Cowden syndrome 6,615109 
CPT1A CPT deficiency, hepatic, type IA, 255120 
CPT2 CPT deficiency, hepatic, type II, 600649 
CPT2 CPT II deficiency, lethal neonatal, 608836 
SOST Craniodiaphyseal dysplasia, autosomal dominant, 122860 
IFT122 Cranioectodermal dysplasia 1, 218330
WDR35 Cranioectodermal dysplasia 2, 613610
IFT43 Cranioectodermal dysplasia 3, 614099
WDR19 Cranioectodermal dysplasia 4,614378 
VSX1 Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 
TMCO1 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 614132 
PAX3 Craniofacial-deafness-hand syndrome,122880 
FGFR2 Craniofacial-skeletal-dermatologic dysplasia, 101600
EFNB1 Craniofrontonasal dysplasia,304110 
SEC23A Craniolenticulosutural dysplasia, 607812
ANKH Craniometaphyseal dysplasia, 123000
GJA1 Craniometaphyseal dysplasia, autosomal recessive,218400 
HPGD Cranioosteoarthropathy, 259100
TCF12 Craniosynostosis 3, 615314 
ERF Craniosynostosis 4, 600775 
IL11RA Craniosynostosis and dental anomalies, 614188 
CYP26B1 Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
FGFR2 Craniosynostosis, nonspecific
TWIST1 Craniosynostosis, type 1, 123100 
MSX2 Craniosynostosis, type 2, 604757
L1CAM CRASH syndrome, 303350
CAV3 Creatine phosphokinase, elevated serum, 123320
PRNP Creutzfeldt-Jakob disease, 123400
UGT1A1 Crigler-Najjar syndrome, type I, 218800 
UGT1A1 Crigler-Najjar syndrome, type II, 606785 
FGFR3 Crouzon syndrome with acanthosis nigricans, 612247
FGFR2 Crouzon syndrome, 123500
RXFP2 Cryptorchidism 
INSL3 Cryptorchidism, 219050
MNX1 Currarino syndrome, 176450
ATR Cutaneous telangiectasia and cancer syndrome, familial, 614564 
ELN Cutis laxa AD,123700 
LTBP4 Cutis laxa autosomal recessive type IC,613177 
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA, 219200
PYCR1 Cutis laxa, autosomal recessive, type IIB, 612940
ALDH18A1 Cutis laxa, autosomal recessive, type IIIA, 219150 
PYCR1 Cutis laxa, autosomal recessive, type IIIB, 614438 
FBLN5 Cutis laxa,autosomal dominant 2,614434 
FBLN5 Cutis laxa,autosomal recessive,type IA,219100 
EFEMP2 Cutis laxa,autosomal recessive,type IB,614437 
HBG2 Cyanosis, transient neonatal, 613977 
CYLD Cylindromatosis,familial,132700 
CTH Cystathioninuria, 219500 
TGFB1 Cystic fibrosis lung disease, modifier of, 219700 
CFTR Cystic fibrosis, 219700 
CTNS Cystinosis, atypical nephropathic, 219800
CTNS Cystinosis, late-onset juvenile or adolescent nephropathic,219900 
CTNS Cystinosis,ocular nonnephropathic,219750 
SLC3A1-SLC7A9 Cystinuria, 220100
COL2A1 Czech dysplasia, 609162 
IDH2 D-2-hydrosyglutaric aciduria 2, 613657 
D2HGDH D-2-hydroxyglutaric aciduria, 600721 
LAMP2 Danon disease, 300257 
ATP2A2 Darier disease, 124200
HSD17B4 D-bifunctional protein deficiency, 261515 
SLC26A2 De la Chapelle dysplasia,256050 
ERCC6 De Sanctis-Cacchione syndrome, 278800
SLITRK6 Deafness and myopia, 221200
DIAPH1 Deafness, autosomal dominant 1, 124900 
GJB3 Deafness, autosomal dominant 2B, 612644
GJB2 Deafness, autosomal dominant 3A, 601544
GJB6 Deafness, autosomal dominant 3B, 612643
MYH14 Deafness, autosomal dominant 4A, 600652
CEACAM16 Deafness, autosomal dominant 4B, 614614 
DFNA5 Deafness, autosomal dominant 5, 600994 
TECTA Deafness, autosomal dominant 8/12, 601543 
COCH Deafness, autosomal dominant 9, 601369 
EYA4 Deafness, autosomal dominant 10, 601316
COL11A2 Deafness, autosomal dominant 13, 601868
POU4F3 Deafness, autosomal dominant 15, 602459
ACTG1 Deafness, autosomal dominant 20/26, 604717
SLC17A8 Deafness, autosomal dominant 25, 605583
GRHL2 Deafness, autosomal dominant 28, 608641 
DSPP Deafness, autosomal dominant 36, with dentinogenesis, 605594
CRYM Deafness, autosomal dominant 40 
P2RX2 Deafness, autosomal dominant 41, 608224
CCDC50 Deafness, autosomal dominant 44, 607453 
MYO1A Deafness, autosomal dominant 48, 607841
TNC Deafness, autosomal dominant 56, 615629 
DIABLO Deafness, autosomal dominant 64, 614152 
GJB3 Deafness, autosomal dominant, with peripheral neuropathy
GJB3 Deafness, autosomal recessive
GJB2 Deafness, autosomal recessive 1A, 220290
GJB6 Deafness, autosomal recessive 1B, 612645
MYO15A Deafness, autosomal recessive 3, 600316
TMIE Deafness, autosomal recessive 6, 600971
TMC1 Deafness, autosomal recessive 7, 600974 
TMPRSS3 Deafness, autosomal recessive 8/10, 601072
OTOF Deafness, autosomal recessive 9, 601071
CDH23 Deafness, autosomal recessive 12, 601386
GIPC3 Deafness, autosomal recessive 15, 601869 
STRC Deafness, autosomal recessive 16, 603720
OTOG Deafness, autosomal recessive 18B, 614945
OTOA Deafness, autosomal recessive 22, 607039
RDX Deafness, autosomal recessive 24, 611022
GRXCR1 Deafness, autosomal recessive 25, 613285 
TRIOBP Deafness, autosomal recessive 28, 609823
CLDN14 Deafness, autosomal recessive 29, 614035 
MYO3A Deafness, autosomal recessive 30, 607101
DFNB31 Deafness, autosomal recessive 31, 607084
ESRRB Deafness, autosomal recessive 35, 608565 
ESPN Deafness, autosomal recessive 36, 609006
HGF Deafness, autosomal recessive 39, 608265 
ILDR1 Deafness, autosomal recessive 42, 609646 
CIB2 Deafness, autosomal recessive 48, 609439
MARVELD2 Deafness, autosomal recessive 49, 610153 
COL11A2 Deafness, autosomal recessive 53, 609706
DFNB59 Deafness, autosomal recessive 59, 610220 
SLC26A5 Deafness, autosomal recessive 61, 613865
LRTOMT Deafness, autosomal recessive 63, 611451 
LHFPL5 Deafness, autosomal recessive 67, 610265 
MSRB3 Deafness, autosomal recessive 74, 613718 
SYNE4 Deafness, autosomal recessive 76, 615540 
LOXHD1 Deafness, autosomal recessive 77, 613079 
TPRN Deafness, autosomal recessive 79, 613307
PTPRQ Deafness, autosomal recessive 84A, 613391
OTOGL Deafness, autosomal recessive 84B, 614944
SERPINB6 Deafness, autosomal recessive 91, 613453
CABP2 Deafness, autosomal recessive 93, 614899 
TSPEAR Deafness, autosomal recessive 98, 614861
FGF3 Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 
GJB6 Deafness, digenic GJB2/GJB6, 220290
GJB3 Deafness, digenic, GJB2/GJB3, 220290 
BCAP31 Deafness, dystonia and cerebellar hypomyelination, 300475 
TRMU Deafness, mitochondrial, modifier of, 580000
ESPN Deafness, neurosensory, without vestibular involvement, autosomal dominant 
PRPS1 Deafness, X-linked 1, 304500 
TIMM8A Deafness, X-linked 1, progressive
POU3F4 Deafness, X-linked 2, 304400
SMPX Deafness, X-linked 4, 300066
WFS1 Deafness,autosomal dominant 6/14/38,600965 
MYO7A Deafness,autosomal dominant 11,601317 
MYH9 Deafness,autosomal dominant 17,603622 
MYO6 Deafness,autosomal dominant 22,606346 
MYO6 Deafness,autosomal dominant 22,with hypertrophic cardiomyopathy,606346 
SIX1 Deafness,autosomal dominant 23,605192 
TMC1 Deafness,autosomal dominant 36,606705 
MYO7A Deafness,autosomal recessive 2,600060 
SLC26A4 Deafness,autosomal recessive 4,with enlarged vestibular aqueduct,600791 
USH1C Deafness,autosomal recessive 18A,602092 
TECTA Deafness,autosomal recessive 21,603629 
PCDH15 Deafness,autosomal recessive 23,609533 
MYO6 Deafness,autosomal recessive 37,607821 
KARS Deafness,autosomal recessive 89,613916 
F9 Deep venous thrombosis, protection against, 300807 
MAT1A deficiency, 250850
PIEZO1 Dehydrated hereditary stomatocytosis with(out) pseudohyperkalemia and/or perinatal edema ,194380 
PRX Dejerine-Sottas disease, autosomal recessive, 145900 
EGR2-MPZ-PMP22 Dejerine-Sottas disease,145900 
ITM2B Dementia, familial British, 176500
ITM2B Dementia, familial Danish, 117300 
CHMP2B Dementia, familial, nonspecific, 600795
PSEN1 Dementia, frontotemporal, 600274 
MAPT Dementia, frontotemporal, with or without parkinsonism, 600274 
SNCA-SNCB Dementia, Lewy body, 127750
GATA2 Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172
OCRL Dent disease 2,300555 
CLCN5 Dent disease, 300009 
LTBP3 Dental anomalies and short stature,601216 
ATN1 Dentatorubro-pallidoluysian atrophy, 125370
SMOC2 Dentin dysplasia type I with microdontia and misshapen teeth,125400 
DSPP Dentin dysplasia, type II, 125420 
DSPP Dentinogenesis imperfecta, Shields type II, 125490
DSPP Dentinogenesis imperfecta, Shields type III, 125500
WT1 Denys-Drash syndrome,194080 
SLC25A4 depletion syndrome 12 (cardiomyopathic type), 615418
FLG Dermatitis,atopic,susceptibility to,2,605803 
PDGFB Dermatofibrosarcoma protuberans,607907 
KRT14 Dermatopathia pigmentosa reticularis,125595 
CAT Desbuquois dysplasia, 251450 
APC Desmoid disease,hereditary,135290 
DHCR24 Desmosterolosis, 602398 
GLYCTK D-glyceric aciduria, 220120 
AQP2 Diabetes insipidus, nephrogenic, 125800 
AVPR2 Diabetes insipidus, nephrogenic, 304800 
AVP Diabetes insipidus, neurohypophyseal, 125700
GCK Diabetes mellitus, gestational, 125851 
INS Diabetes mellitus, insulin-dependent, 2, 125852 
HNF1A Diabetes mellitus, insulin-dependent, 20, 612520 
HNF1A Diabetes mellitus, insulin-dependent, 222100
PAX4 Diabetes mellitus, ketosis-prone, 612227 
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 
HNF4A-NEUROD1-LIPC Diabetes mellitus, noninsulin-dependent, 125853 
HNF1A Diabetes mellitus, noninsulin-dependent, 2, 125853 
GCK Diabetes mellitus, noninsulin-dependent, late onset, 125853 
ENPP1 Diabetes mellitus, non-insulin-dependent, susceptibility to,125853 
SLC2A2 Diabetes mellitus, noninsulin-dependent,125853 
INS Diabetes mellitus, permanent neonatal, 606176
GCK Diabetes mellitus, permanent neonatal, 606176 
PTF1A Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069
KCNJ11 Diabetes mellitus, permanent neonatal, with neurologic features, 606176
ZFP57 Diabetes mellitus, transient neonatal, 1, 601410
KCNJ11 Diabetes mellitus, transient neonatal, 3, 610582 
INS Diabetes mellitus, type 1, 125852
PAX4 Diabetes mellitus, type 2, 125853
KCNJ11 Diabetes mellitus, type 2, susceptibility to, 125853
AKT2 Diabetes mellitus, type II, 125853 
HNF1B Diabetes mellitus,noninsulin-dependent,125853 
WFS1 Diabetes mellitus,noninsulin-dependent,association with,125853 
PDX1 Diabetes mellitus,type II,susceptibility to,125853 
KCNJ11 Diabetes, permanent neonatal, 606176
PPARG Diabetes, type 2, 125853 
RPS19 Diamond-Blackfan anemia 1, 105650
RPS24 Diamond-blackfan anemia 3, 610629
RPS17 Diamond-Blackfan anemia 4, 612527
RPL35A Diamond-Blackfan anemia 5, 612528
RPL5 Diamond-Blackfan anemia 6, 612561
RPL11 Diamond-Blackfan anemia 7, 612562
RPS7 Diamond-Blackfan anemia 8, 612563
RPS10 Diamond-Blackfan anemia 9, 613308
RPS26 Diamond-Blackfan anemia 10, 613309
BMPER Diaphanospondylodysostosis, 608022
ZFPM2 Diaphragmatic hernia 3, 610187 
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250
SLC26A3 Diarrhea 1,secretory chloride,congenital,214700 
SPINT2 Diarrhea 3 secretory sodium congenital syndromic,270420 
NEUROG3 Diarrhea 4, malabsorptive, congenital, 610370
EPCAM Diarrhea 5, with tufting enteropathy, congenital, 613217
GUCY2C Diarrhea 6, 614616 Meconium ileus, 614665
SLC26A2 Diastrophic dysplasia,222600 
SLC26A2 Diastrophic dysplasia,broad bone-platyspondylic variant,222600 
TRPV4 Digital arthropathy-brachydactyly,familial,606835 
HPGD Digital clubbing, isolated congenital, 119900 
DLD Dihydrolipoamide dehydrogenase deficiency, 246900 
DPYD Dihydropyrimidine dehydrogenase deficiency, 274270
DPYS Dihydropyrimidinuria, 222748 
DSP Dilated cardiomyopathy with woolly hair, keratoderma and tooth agenesis,615821 
DMGDH Dimethylglycine dehydrogenase deficiency, 605850 
EPHX1 Diphenylhydantoin toxicity 
POR Disordered steroidogenesis due to cytochrome P450 oxidoreductase,613571 
CALR distal to C3, near LDLR 
LIG1 DNA ligase I deficiency 
TOP1 DNA topoisomerase I, camptothecin-resistant
TOP2A DNA topoisomerase II, resistance to inhibition of, by amsacrine
LRP2 Donnai-Barrow syndrome, 222448 
DBH Dopamine beta-hydroxylase deficiency, 223360 
ANKK1 Dopamine receptor D2, reduced brain density of
DBH Dopamine-beta-hydroxylase activity levels, plasma 
CFC1-GDF1 Double-outlet right ventricle, 217095
KRT5 Dowling-Degos disease 1,179850 
POFUT1 Dowling-Degos disease 2,615327 
POGLUT1 Dowling-Degos disease 4,615696 
EFEMP1 Doyne honeycomb degeneration of retina, 126600 
SCN1A Dravet syndrome, 607208
SCN9A Dravet syndrome,modifier of,607208 
DMP1-GDF5 Du Pan syndrome, 228900
CHN1 Duane retraction syndrome 2, 604356
SALL4 Duane-radial ray syndrome, 607323
ABCC2 Dubin-Johnson syndrome, 237500
DMD Duchenne muscular dystrophy, 310200
G6PC3 Dursun syndrome, 612541 
DYM Dyggve-Melchior-Clausen disease, 223800
ALB Dysalbuminemic hyperthyroxinemia 
ALB Dysalbuminemic hyperzincemia, 194470 
IKBKAP Dysautonomia, familial, 223900
ADAR Dyschromatosis symmetrica hereditaria, 127400
ABCB7 Dyschromatosis universalis hereditaria 3,615402 
CDAN1 Dyserythropoietic anemia, congenital, type Ia,224120 
C15orf41 Dyserythropoietic anemia, congenital, type Ib, 615631 (3) 
FGA Dysfibrinogenemia, alpha type, causing bleeding diathesis
FGA Dysfibrinogenemia, alpha type, causing recurrent thrombosis
FGB Dysfibrinogenemia, beta type
FGG Dysfibrinogenemia, gamma type
TINF2 Dyskeratosis congenita, autosomal dominant 3, 613990
RTEL1 Dyskeratosis congenita, autosomal dominant 4, 615190 
NOP10 Dyskeratosis congenita, autosomal recessive 1, 224230
NHP2 Dyskeratosis congenita, autosomal recessive 2, 613987
WRAP53 Dyskeratosis congenita, autosomal recessive 3, 613988
RTEL1 Dyskeratosis congenita, autosomal recessive 5, 615190 
DKC1 Dyskeratosis congenita, X-linked, 305000 
ADCY5 Dyskinesia, familial, with facial myokymia, 606703 
DYX1C1 Dyslexia, susceptibility to, 1, 127700 
PLG Dysplasminogenemia, 217090 
F2 Dysprothrombinemia, 613679
HSPG2 Dyssegmental dysplasia, Silverman-Handmaker type, 224410 
TUBB4A Dystonia 4, torsion, autosomal dominant, 128101
THAP1 Dystonia 6, torsion, 602629 
SLC2A1 Dystonia 9, 601042 
PRKRA Dystonia 16, 612067 
ANO3 Dystonia 24, 615034 
GNAL Dystonia 25, 615073 
SPR Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 
GCH1 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
TOR1A Dystonia, early-onset atypical, with myoclonic features
ACTB Dystonia, juvenile-onset, 607371
DRD2 Dystonia, myoclonic, 159900
DRD5 Dystonia, primary cervical
TOR1A Dystonia-1, modifier of 
TOR1A Dystonia-1, torsion, 128100
ATP1A3 Dystonia-12,128235 
TAF1 Dystonia-Parkinsonism, X-linked, 314250 
TTR Dystransthyretinemic hyperthyroxinemia,145680 
CHRM3 Eagle-Barrett syndrome, 100100
COL7A1 EBD inversa,226600 
COL7A1 EBD, Bart type,132000 
EDA Ectodermal dysplasia 1,hypohidrotic,X-linked,305100 
GJB6 Ectodermal dysplasia 2, Clouston type, 129500 
MSX1 Ectodermal dysplasia 3,Witkop type,189500 
KRT85 Ectodermal dysplasia 4 hair/nail type,602032 
KRT74 Ectodermal dysplasia 7, hair/nail type,614929 
HOXC13 Ectodermal dysplasia 9 hair/nail type,614931 
EDAR Ectodermal dysplasia 10A,hypohidrotic/hair/nail type, autosomal dominant,129490 
EDAR Ectodermal dysplasia 10B,hypohidrotic/hair/tooth type, autosomal recessive,224900 
EDARADD Ectodermal dysplasia 11A,hypohidrotic/hair/tooth type, autosomal dominant,614940 
EDARADD Ectodermal dysplasia 11B,hypohidrotic/hair/tooth type, autosomal recessive,614941 
NFKBIA Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132
IKBKG Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291
CDH3 Ectodermal dysplasia,ectrodactyly and macular dystrophy,225280 
PKP1 Ectodermal dysplasia/skin fragility syndrome,604536 
PVRL4 Ectodermal dysplasia-syndactyly syndrome 1,613573 
IKBKG Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301
ADAMTSL4 Ectopia lentis et pupillae,225200 
FBN1 Ectopia lentis, familial, 129600
ADAMTSL4 Ectopia lentis,isolated,autosomal recessive,225100 
TP63 Ectrodactyly,ectodermal dysplasia,cleft lip/palate syndrome 3,604292 
CYP2B6 Efavirenz central nervous system toxicity, susceptibility to, 614546 
CYP2B6 Efavirenz, poor metabolism of, 614546
TNXB Ehlers-Danlos syndrome due to tenascin X deficiency,606408 
B3GALT6 Ehlers-Danlos syndrome progeroid type 2,615349 
ADAMTS2 Ehlers-Danlos syndrome type VIIC,225410 
FKBP14 Ehlers-Danlos syndrome with progressive kyphoscoliosis myopathy and hearing loss,614557 
COL5A1-COL5A2 Ehlers-Danlos syndrome, classic type I,130000 
CHST14 Ehlers-Danlos syndrome, musculocantractural type 1, 601776 
B4GALT7 Ehlers-Danlos syndrome, progeroid type, 1, 130070 
COL1A1 Ehlers-Danlos syndrome, type I, 130000
COL3A1 Ehlers-Danlos syndrome, type IV,130050 
PLOD1 Ehlers-Danlos syndrome, type VI, 225400 
COL1A1 Ehlers-Danlos syndrome, type VIIA, 130060
COL1A2 Ehlers-Danlos syndrome, type VIIB,130060 
COL1A2 Ehlers-Danlos syndrome,cardiac valvular form,225320 
COL3A1 Ehlers-Danlos syndrome,type III,130020 
SLC39A13 Ehlers-Danlos syndrome-like,612350 
PTH1R Eiken syndrome, 600002 
SPTB Elliptocytosis 
EPB41 Elliptocytosis-1, 611804
SPTA1 Elliptocytosis-2, 130600
EVC-EVC2 Ellis-van Creveld syndrome,225500 
EMD Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 
LMNA Emery-Dreifuss muscular dystrophy 2,AD,181350 
LMNA Emery-Dreifuss muscular dystrophy 3,AR,616516 
SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999
FHL1 Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 
TMEM43 Emery-Dreifuss muscular dystrophy 7, AD, 614302 
SERPINA1 Emphysema due to AAT deficiency, 613490
SERPINA1 Emphysema-cirrhosis, due to AAT deficiency, 613490
DNM1L-DYM Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 
CPT2 Encephalopathy, acute, infection-induced, 4, susceptibility to, 614212 
SERPINI1 Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 -3 
MECP2 Encephalopathy, neonatal severe, 300673
ICK Endocrine-cerebroosteodysplasia, 612651
MLH3 Endometrial cancer, 608089 
MSH6 Endometrial cancer, familial, 608089
MSH3 Endometrial carcinoma
CDH1-PTEN Endometrial carcinoma, somatic, 608089
TLR4 Endotoxin hyporesponsiveness
COLQ Endplate acetylcholinesterase deficiency, 603034
FOXI1 Enlarged vestibular aqueduct, 600791 
TMPRSS15 Enterokinase deficiency 
EPX Eosinophil peroxidase deficiency, 261500
NRAS Epidermal nevus, somatic, 162900
TMC6-TMC8 Epidermodysplasia verruciformis, 226400
COL7A1 Epidermolysis bullosa dystrophica, AD,131750 
COL7A1 Epidermolysis bullosa dystrophica, AR,226600 
MMP1 Epidermolysis bullosa dystrophica, autosomal recessive, modifier of, 226600 
ITGB4 Epidermolysis bullosa of hands and feet,131800 
COL7A1 Epidermolysis bullosa pruriginosa,604129 
PLEC Epidermolysis bullosa simples with muscular dystrophy,226670 
PLEC Epidermolysis bullosa simplex with nail dystrophy,616487 
PLEC Epidermolysis bullosa simplex with pyloric atresia,612138 
PLEC Epidermolysis bullosa simplex, Ogna type, 131950 
DST Epidermolysis bullosa simplex, sutosomal recessive 2, 615425 
KRT14-KRT5 Epidermolysis bullosa simplex,Dowling-Meara type,131760 
KRT14-KRT5 Epidermolysis bullosa simplex,Koebner type,131900 
KRT14-KRT5 Epidermolysis bullosa simplex,recessive 1,601001 
KRT14-KRT5 Epidermolysis bullosa simplex,Weber-Cockayne type,131800 
KRT5 Epidermolysis bullosa simplex-MCR,609352 
KRT5 Epidermolysis bullosa simplex-MP,131960 
LAMA3 Epidermolysis bullosa,generalized atrophic benign,226650 
ITGA6 Epidermolysis bullosa,junctional, with pyloric stenosis,226730 
LAMA3-LAMB3-LAMC2 Epidermolysis bullosa,junctional,Herlitz type,226700 
COL17A1-ITGB4-LAMB3-LAMC2 Epidermolysis bullosa,junctional,non-Herlitz type,226650 
ITGB4 Epidermolysis bullosa,junctional,with pyloric atresia,226730 
DSP Epidermolysis bullosa,lethal acantholytic,609638 
EXPH5 Epidermolysis bullosa,nonspecific,autosomal recessive,615028 
COL7A1 Epidermolysis bullosa,pretibial,131850 
KRT1-KRT10 Epidermolytic hyperkeratosis,113800 
KRT9 Epidermolytic palmoplantar keratoderma,144200 
CASR Epilepsy idiopathic generalized,susceptibility to,8,612899 
GRIN2A Epilepsy with neurodevelopmental defects, 613971 
GABRA1 Epilepsy, childhood absence, susceptibility to, 4 
DEPDC5 Epilepsy, familial focal, with variable foci, 604364
LGI1 Epilepsy, familial temporal lobe, 1, 600512 
CPA6 Epilepsy, familial temporal lobe, 5, 614417
SCN1B Epilepsy, generalized, with febrile seizures plus, type 1, 604233 
SCN1A Epilepsy, generalized, with febrile seizures plus, type 2, 604403
GABRG2 Epilepsy, generalized, with febrile seizures plus, type 3, 611277 
CACNB2 Epilepsy, idiopathic generalized, susceptibility to, 9, 607682
CLCN2 Epilepsy, idiopathic generalized, susceptibility to, 11, 607628 
SLC2A1 Epilepsy, idiopathic generalized, suscpetibility to, 12, 614847
CLCN2 Epilepsy, juvenile absence, susceptibility to, 2, 607628
GABRA1 Epilepsy, juvenile myoclonic, susceptibility to, 5, 611136 
CACNB4 Epilepsy, juvenile myoclonic, susceptibility to, 6, 607682
CLCN2 Epilepsy, juvenile myoclonic, susceptibility to, 8, 607628
CHRNA4 Epilepsy, nocturnal frontal lobe, 1, 600513 
CHRNB2 Epilepsy, nocturnal frontal lobe, 3, 605375 
KCNT1 Epilepsy, nocturnal frontal lobe, 5, 615005 
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4, 610353
CSTB Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
PRICKLE1 Epilepsy, progressive myoclonic 1B, 612437
EPM2A Epilepsy, progressive myoclonic 2A (Lafora), 254780
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora), 254780
KCTD7 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 
SCARB2 Epilepsy, progressive myoclonic 4, with or without renal failure, 254900
PRICKLE2 Epilepsy, progressive myoclonic 5,613832 
GOSR2 Epilepsy, progressive myoclonic 6 
ALDH7A1 Epilepsy, pyridoxine-dependent, 266100 
SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 
GABRB3 Epilepsy,childhood absence, susceptibility to, 5,612269 
GABRG2 Epilepsy,childhood absence,susceptibility to,2,607681 
SCN9A Epilepsy,generalized,with febrile seizures plus,type 7,613863 
GABRB3 Epileptic encephalopathy (Epi4K consortium, Nature. 2013 Sep 12;501(7466):217-21) 
CHD2 Epileptic encephalopathy, childhood-onset, 615369
ARX Epileptic encephalopathy, early infantile, 1, 308350
CDKL5 Epileptic encephalopathy, early infantile, 2, 300672
SLC25A22 Epileptic encephalopathy, early infantile, 3, 609304 
STXBP1 Epileptic encephalopathy, early infantile, 4, 612164 
SPTAN1 Epileptic encephalopathy, early infantile, 5 
KCNQ2 Epileptic encephalopathy, early infantile, 7, 613720 
ARHGEF9 Epileptic encephalopathy, early infantile, 8, 300607
PCDH19 Epileptic encephalopathy, early infantile, 9, 300088 
PNKP Epileptic encephalopathy, early infantile, 10, 613402 
SCN2A Epileptic encephalopathy, early infantile, 11, 613721 
PLCB1 Epileptic encephalopathy, early infantile, 12, 613722 
SCN8A Epileptic encephalopathy, early infantile, 13, 614558 
KCNT1 Epileptic encephalopathy, early infantile, 14, 614959
ST3GAL3 Epileptic encephalopathy, early infantile, 15, 615006 
TBC1D24 Epileptic encephalopathy, early infantile, 16, 615338 
GNAO1 Epileptic encephalopathy, early infantile, 17, 615473 
SZT2 Epileptic encephalopathy, early infantile, 18, 615476 
GABRA1 Epileptic encephalopathy, early infantile, 19, 615744 
WWOX Epileptic encephalopathy, early infantile, 28, 616211 
AARS Epileptic encephalopathy,early infantile,29,616339 
COMP Epiphyseal dysplasia, multiple 1, 132400 
COL9A2 Epiphyseal dysplasia, multiple, 2, 600204
COL9A3 Epiphyseal dysplasia, multiple, 3, 600969
MATN3 Epiphyseal dysplasia, multiple, 5, 607078
COL9A1 Epiphyseal dysplasia, multiple, 6, 614135
COL2A1 Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
SLC26A2 Epiphyseal dysplasia,multiple,4,226900 
CACNB2 Episodic ataxia, type 5, 613855 
SLC1A3 Episodic ataxia, type 6, 612656 
CACNA1A Episodic ataxia,type 2,108500 
KCNA1 Episodic ataxia/myokymia syndrome, 160120
PRRT2 Episodic kinesigenic dyskinesia 1, 128200
SCN10A Episodic pain syndrome,familial 2,615551 
SCN11A Episodic pain syndrome, familial, 3, 615552 
TRPA1 Episodic pain syndrome, familial, 615040
TMLHE Epsilon-trimethyllysine hydrolylase deficiency, 300872 
MYH9 Epstein syndrome,153650 
SCN9A Erythermalgia, primary, 133020
HBB Erythremias, beta-
SLC16A1 Erythrocyte lactate transporter defect, 245340 
HBA2 Erythrocytosis 
BPGM Erythrocytosis due to bisphosphoglycerate mutase deficiency, 222800 
VHL Erythrocytosis,familial,2,263400 
EGLN1 Erythrocytosis, familial, 3, 609820
EPAS1 Erythrocytosis, familial, 4, 611783
SH2B3 Erythrocytosis, somatic, 133100 
JAK2 Erythrocytosis,somatic,133100 
DSG1 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper IgE,615508 
GJB3-GJA1 Erythrokeratodermia variabilis et progressiva, 133200
GJB4 Erythrokeratodermia variabilis with erythema gyratum repens,133200 
CHRNG Escobar syndrome, 265000
ALDH2 Esophageal cancer, alcohol-related, susceptibility to 
TGFBR2 Esophageal cancer, somatic, 133239
DCC-RNF6 Esophageal carcinoma, somatic 133239 
LZTS1 Esophageal squamous cell carcinoma 
WWOX Esophageal squamous cell carcinoma, somatic, 133239 
ESR1 Estrogen resistance, 615363
ETHE1 Ethylmalonic encephalopathy, 602473 
EWSR1 Ewing sarcoma, 612219
CSTA Exfoliative ichthyosis,autosomal recessive,ichthyosis bullosa of Siemens-like,607936 
COX4I2 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis,612714 
EXT1 Exostoses, multiple, type 1, 133700 
EXT2 Exostoses, multiple, type 2, 133701 
LRP5 Exudative vitreoretinopathy 4, 601813
TSPAN12 Exudative vitreoretinopathy 5, 613310 
FZD4 Exudative vitreoretinopathy, 133780
NDP Exudative vitreoretinopathy, X-linked, 305390 
GLA Fabry disease, 301500 
GLA Fabry disease, cardiac variant, 301500 
SPECC1L Facial clefting, oblique, 1, 600251 
HOXB1 Facial paresis, hereditary congenital, 3 
MCFD2 Factor V and factor VIII, combined deficiency of, 613625
F5 Factor V deficiency, 227400
F7 Factor VII deficiency, 227500 
F10 Factor X deficiency, 227600
F11 Factor XI deficiency, autosomal dominant, 612416 
F11 Factor XI deficiency, autosomal recessive, 612416
F12 Factor XII deficiency, 234000
F13A1 Factor XIIIA deficiency, 613225
F13B Factor XIIIB deficiency, 613235
PTH1R Failure of tooth eruption, primary, 125350 
NLRP12 Familial cold autoinflammatory syndrome 2, 611762
PLCG2 Familial cold autoinflammatory syndrome 3, 614468 
MEFV Familial Mediterranean fever, AR, 249100
FANCA Fanconi anemia complementation group A,227650 
FANCB Fanconi anemia complementation group B,300514 
FANCC Fanconi anemia complementation group C,227645 
FANCD2 Fanconi anemia complementation group D2,227646 
FANCE Fanconi anemia complementation group E,600901 
FANCF Fanconi anemia complementation group F,603467 
FANCG Fanconi anemia complementation group G,614082 
FANCI Fanconi anemia complementation group I,609053 
FANCL Fanconi anemia complementation group L,614083 
FANCM Fanconi anemia complementation group M,614087 
PALB2 Fanconi anemia complementation group N,610832 
SLX4 Fanconi anemia complementation group P,613951 
BRCA2 Fanconi anemia, complementation group D1, 605724
RAD51C Fanconi anemia, complementation group O, 613390
BRIP1 Fanconi anemia,complementation group J,609054 
ERCC4 Fanconi anemia,complementation group Q,615272 
SLC34A1 Fanconi renotubular syndrome 2,613388 
SLC2A2 Fanconi-Bickel syndrome,227810 
ASAH1 Farber lipogranulomatosis, 228000 
SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic, 158901
HADHA Fatty liver, acute, of pregnancy, 609016 
G6PD Favism, 134700 
SLC52A3 Fazio-Londe disease, 211500 
SCN1A Febrile seizures, familial, 3A, 604403 
SCN9A Febrile seizures,familial,3B,613863 
GPR98 Febrile seizures, familial, 4, 604352
GABRG2 Febrile seizures,familial,8,611277 
CPA6 Febrile seizures,familial,11,614418 
MYH9 Fechtner syndrome,153640 
MYCN Feingold syndrome, 164280 
RAPSN Fetal akinesia deformation sequence, 20815 
HBG1-HBG2 Fetal hemoglobin quantitative trait locus 1, 141749
EPHX1 Fetal hydantoin syndrome 
FLNA FG syndrome 2, 300321
CASK FG syndrome 4, 300422
SPINK1 Fibrocalculous pancreatic diabetes, susceptibility to, 608189
COL11A2 Fibrochondrogenesis 2, 614524 
COL11A1 Fibrochondrogenesis, 228520 
ACVR1 Fibrodysplasia ossificans progressiva, 135100 
SOS1 Fibromatosis, gingival, 135300
KIF21A Fibrosis of extraocular muscles, congenital, 1, 135700
PHOX2A Fibrosis of extraocular muscles, congenital, 2, 602078
TUBB3 Fibrosis of extraocular muscles, congenital, 3A, 600638
KIF21A Fibrosis of extraocular muscles, congenital, 3B, 135700 
POLE FILS syndrome 
PLA2G5 Fleck retina, familial benign, 228980 
KLKB1 Fletcher factor deficiency, 612423
SRCAP Floating-Harbor syndrome, 136140 
TSC1 Focal cortical dysplasia,Taylor balloon cell type,607341 
PORCN Focal dermal hypoplasia, 305600 
TWIST2 Focal facial dermal dysplasia 3,Setleis type,227260 
CYP26C1 Focal facial dermal dysplasia 4,614974 
SLC46A1 Folate malabsorption, hereditary, 229050 
TDGF1 Forebrain defects 
TDGF1 Forebrain defects (de la Cruz (2002) Hum Genet 110, 422) 
PAX6 Foveal hyperplasia, 136520
SLC38A8 Foveal hypoplasia 2, with/without optic nerve misrouting and/or anterior segment dysgenesis, 609218 
PRPH2 Foveomacular dystrophy, adult-onset, with choroidal neovascularization, 608161
FMR1 Fragile X syndrome, 300624
FMR1 Fragile X tremor/ataxia syndrome, 300623
SH3PXD2B Frank-ter Haar syndrome, 249420
FRAS1-FREM2 Fraser syndrome, 219000 
GRIP1 Fraser syndrome,219000 
WT1 Frasier syndrome,136680 
FXN Friedreich ataxia with retained reflexes, 229300 
FXN Friedreich ataxia, 229300 
FLNA Frontometaphyseal dysplasia, 305620
ALX3 Frontonasal dysplasia 1, 136760 
ALX4 Frontonasal dysplasia 2, 613451 
ALX1 Frontonasal dysplasia 3, 613456 
GRN Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 
TARDBP Frontotemporal lobar degeneration, TARDBP-related, 612069 
ALDOB Fructose intolerance, 229600 
FBP1 Fructose-1,6-bidphosphatase deficiency, 229700 
FUCA1 Fucosidosis, 230000 
FUT6 Fucosyltransferase 6 deficiency, 613852 
WNT7A Fuhrmann syndrome,228930 
FH Fumarase deficiency, 606812
RLBP1-RDH5 Fundus albipunctatus, 136880
ABCA4 Fundus flavimaculatus, 248200
ABAT GABA-transaminase deficiency, 613163 
GALK1 Galactokinase deficiency with cataracts, 230200 
GALE Galactose epimerase deficiency, 230350 
GALT Galactosemia, 230400 
CTSA Galactosialidosis, 256540 
ABCB4 Gallbladder disease 1, 600803 
ABCG8 Gallbladder disease 4, 611465 
ANTXR1 GAPO syndrome, 230740 
APC Gardner syndrome,175100 
IL1RN Gastric cancer risk after H. pylori infection, 137215
CDH1 Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215
KRAS Gastric cancer, somatic, 137215 
ERBB2-FGFR2-IRF1-KLF6-PIK3CA-APC-MUTYH Gastric cancer, somatic, 613659
SDHB-SDHC Gastrointestinal stromal tumor, 606764 
PDGFRA Gastrointestinal stromal tumor, somatic, 606764
KIT Gastrointestinal stromal tumor,familial,606764 
PSAP Gaucher disease, atypical, 610539
GBA Gaucher disease, perinatal lethal, 608013 
GBA Gaucher disease, type I, 230800 
GBA Gaucher disease, type II, 230900 
GBA Gaucher disease, type III, 231000 
GBA Gaucher disease, type IIIC, 231005 
ROBO3 Gaze palsy, horizontal, with progressive scoliosis, 607313
ADAMTSL2 Geleophysic dysplasia 1, 231050
FBN1 Geleophysic dysplasia 2, 614185 
KCNMA1 Generalized epilepsy and paroxysmal dyskinesia, 609446
KAT6B Genitopatellar syndrome, 606170 
KIT Germ cell tumors,273300 
GORAB Geroderma osteodysplasticum,231070 
PRNP Gerstmann-Straussler disease, 137440
TBXAS1 Ghosal hematodiaphyseal syndrome, 231095 
GAN Giant axonal neuropathy-1, 256850
GP1BB Giant platelet disorder, isolated, 231200 
UGT1A1 Gilbert syndrome, 143500 
PAX6 Gillespie syndrome, 206700 
SLC12A3 Gitelman syndrome, 263800
NTF4 Glaucoma 1, open angle, 1O, 613100
OPTN Glaucoma 1, open angle, E, 137760
ASB10 Glaucoma 1, open angle, F, 603383
WDR36 Glaucoma 1, open angle, G, 609887
MYOC Glaucoma 1A, primary open angle, 137750 
LTBP2 Glaucoma 3, primary congenital, D, 613086
CYP1B1 Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 
OPTN Glaucoma, normal tension, susceptibility to, 606657
BRCA2 Glioblastoma 3, 613029
ERBB2 Glioblastoma, somatic, 137800
TP53 Glioma susceptibility 1, 137800 
PTEN Glioma susceptibility 2, 613028
UMOD Glomerulocystic kidney disease with hyperuricemia and isothenuria,609886 
FN1 Glomerulopathy with fibronectin deposits 2, 601894
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278
TRPC6 Glomerulosclerosis, focal segmental, 2, 603965
CD2AP Glomerulosclerosis, focal segmental, 3, 607832 
INF2 Glomerulosclerosis, focal segmental, 5, 613237 
MYO1E Glomerulosclerosis, focal segmental, 6, 614131
PAX2 Glomerulosclerosis, focal segmental, 7, 616002 
GLMN Glomuvenous malformations,138000 
MRAP Glucocorticoid deficiency 2 
NNT Glucocorticoid deficiency 4, 614736 
MC2R Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200
NR3C1 Glucocorticoid resistance,615962 
SLC5A1 Glucose/galactose malabsorption, 606824 
SLC2A1 GLUT1 deficiency syndrome 1, 606777
SLC2A1 GLUT1 deficiency syndrome 2, 612126
FTCD Glutamate formiminotransferase deficiency, 229100 
GLUL Glutamine deficiency, congenital, 610015 
ETFB Glutaric acidemia 2B, 231680 
ETFA Glutaric acidemia IIA, 231680 
ETFDH Glutaric acidemia IIC, 231680 
CANT1 Glutaric aciduria III, 231690 
GCDH Glutaricaciduria, type I, 231670 
GK Glycerol kinase deficiency, 307030 
GLDC Glycine encephalopathy, 605899
AMT-GCSH Glycine encephalopathy, 605899 
GNMT Glycine N-methyltransferase deficiency, 606664 
GYS1 Glycogen storage disease 0, muscle, 611556 
G6PC Glycogen storage disease Ia, 232200 
SLC37A4 Glycogen storage disease Ib, 232220 
SLC37A4 Glycogen storage disease Ic, 232240 
GAA Glycogen storage disease II, 232300 
GBE1 Glycogen storage disease IV, 232500 
PHKG2 Glycogen storage disease IXc, 613027
PRKAG2 Glycogen storage disease of heart, lethal congenital, 261740 
PYGL Glycogen storage disease VI, 232700 
PFKM Glycogen storage disease VII, 232800 
PGAM2 Glycogen storage disease X, 261670 
LDHA Glycogen storage disease XI, 612933 
ALDOA Glycogen storage disease XII, 611881 
ENO3 Glycogen storage disease XIII, 612932 
PGM1 Glycogen storage disease XIV, 612934 
GYG1 Glycogen storage disease XV, 613507 
GYS2 Glycogen storage disease, type 0, 240600 
PHKA2 Glycogen storage disease, type IXa1, 306000 
PHKA2 Glycogen storage disease, type IXa2, 306000 
PIGM Glycosylphosphatidylinositol deficiency, 610293 
GLB1 GM1-gangliosidosis, type I, 230500
GM2A GM2-gangliosidosis, AB variant, 272750 
HEXA GM2-gangliosidosis, several forms, 272800
GNAI2 GNAI2L Pituitary ACTH-secreting adenoma
ANO5 Gnathodiaphyseal dysplasia, 166260
NKX2-1 Goiter, familial, due to TTF-1 defect (1)
DICER1 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 
KIAA1279 Goldberg-Shprintzen megacolon syndrome, 609460 
PRPS1 Gout, PRPS-related, 300661
FAM111A Gracile bone dysplasia, 602361 
BCS1L GRACILE syndrome, 603358 
NCF4 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960
NBEAL2 Gray platelet syndrome, 139090
GLI3 Greig cephalopolysyndactyly syndrome, 175700
MLPH Griscelli syndrome type 3,609227 
MYO5A Griscelli syndrome, type 1, 214450 
RAB27A Griscelli syndrome, type 2, 607624 
HESX1 Growth hormone deficiency with pituitary anomalies, 182230 
GH1 Growth hormone deficiency, isolated, type IA, 262400
GH1-GHRHR Growth hormone deficiency, isolated, type IB, 612781
GH1 Growth hormone deficiency, isolated, type II, 173100
STAT5B Growth hormone insensitivity with immunodeficiency, 245590 
IGF1 Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 
FTO Growth retardation, developmental delay, coarse facies, and early death, 612938 
HOXA13 Guttmacher syndrome,176305 
OAT Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 
ASCL1 Haddad syndrome, 209880 
ATP2C1 Hailey-Hailey disease,169600 
CTSC Haim-Munk syndrome, 245010 
EDAR Hair morphology 1,hair thickness,612630 
NOTCH2 Hajdu-Cheney syndrome,102500 
IRX5 Hamamy syndrome, 611174
HOXA13 Hand-foot-uterus syndrome,140000 
ALDH2 Hangover, susceptibility to, 610251 
CPOX Harderoporphyria, 121300 
PANK2 HARP syndrome, 607236 
SLC6A19 Hartnup disorder, 234500
FGFR1 Hartsfield syndrome, 615465 
HPD Hawkinsinuria, 140350 
TP63 Hay-Wells syndrome,106260 
ABCA1 HDL deficiency, type 2, 604091 
SCN5A Heart block, nonprogressive, 113900
SCN5A Heart block, progressive, type IA, 113900
LMNA Heart-hand syndrome,Slovenian type,610140 
HBA2 Heinz body anemia, 140700
HBB Heinz body anemias, beta-, 140700
HADHA HELLP syndrome, maternal, of pregnancy, 609016 
LBR HEM skeletal dysplasia, 215140
VHL Hemangioblastoma,cerebellar,somatic 
KDR Hemangioma, capillary infantile, somatic, 602089
ANTXR1-KDR Hemangioma, capillary infantile, susceptibility to, 602089 
FLT4 Hemangioma,capillary infantile,somatic,602089 
COL4A3 Hematuria,benign familial, 141200 
HMOX1 Heme oxygenase-1 deficiency, 614034 
HFE2 Hemochromatosis type 2A 
HFE Hemochromatosis, 235200
HAMP Hemochromatosis, type 2B, 613313
TFR2 Hemochromatosis, type 3, 604250
SLC40A1 Hemochromatosis, type 4, 606069
HBA2 Hemoglobin H disease, nondeletional, 613978 
AK1 Hemolytic anemia due to adenylate kinase deficiency, 612631 
G6PD Hemolytic anemia due to G6PD deficiency 
GCLC Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 
GSS Hemolytic anemia due to glutathione synthetase deficiency, 231900
HK1 Hemolytic anemia due to hexokinase deficiency, 235700 
TPI1 Hemolytic anemia due to triosephosphate isomerase deficiency 
CD59 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
GPI Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 
CFH Hemolytic uremic syndrome, atypical, susceptibility to, 1, 235400
THBD Hemolytic uremic syndrome, atypical, susceptibility to, 6, 612926 
PRF1 Hemophagocytic lymphohistiocytosis, familial, 2, 603553
UNC13D Hemophagocytic lymphohistiocytosis, familial, 3, 608898
STX11 Hemophagocytic lymphohistiocytosis, familial, 4, 603552
STXBP2 Hemophagocytic lymphohistiocytosis, familial, 5, 613101
F8 Hemophilia A, 306700
F9 Hemophilia B, 306900
COL4A2 Hemorrhage, intracerebral, susceptibility to, 614519 
JAM3 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 
SERPINA1 Hemorrhagic diathesis due to 'antithrombin' Pittsburgh, 613490 
CP Hemosiderosis, systemic, due to aceruloplasminemia, 604290 
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2,616006 
CCBE1 Hennekam lymphangiectasia-lymphedema syndrome, 235510 
HNF1A Hepatic adenoma, somatic, 142330
SCO1 Hepatic failure early onset 
LIPC Hepatic lipase deficiency, 614025 
SP110 Hepatic venoocclusive disease with immunodeficiency, 235550
PTPRC Hepatitic C virus, susceptibility to, 609532
IL10RB Hepatitis B virus, susceptibility to, 610424 
APC Hepatoblastoma,somatic,114550 
PDGFRL Hepatocellular cancer, somatic, 114550
IGF2R Hepatocellular carcinoma
TP53 Hepatocellular carcinoma, 114550
MET Hepatocellular carcinoma, childhood type, 114550 
AXIN1-CTNNB1 Hepatocellular carcinoma, somatic, 114550
PIK3CA Hepatocellular carcinoma, somatic, 114550 (3); Nonsmall cell lung cancer, somatic, 211980 (3); Keratosis, 
MFN2 Hereditary motor and sensory neuropathy VIA,601152 
TFG Hereditary motor and sensory neuropathy,Okinawa type,604484 
TRPV4 Hereditary motor and sensory neuropathy,type IIC,606071 
HBB Hereditary persistence of fetal hemoglobin, 141 
KLF1 Hereditary persistence of fetal hemoglobin, 613566
HPS1 Hermansky-Pudlak syndrome 1,203300 
AP3B1 Hermansky-Pudlak syndrome 2, 608233 
HPS3 Hermansky-Pudlak syndrome 3,614072 
HPS4 Hermansky-Pudlak syndrome 4,614073 
HPS5 Hermansky-Pudlak syndrome 5,614074 
HPS6 Hermansky-Pudlak syndrome 6,614075 
DTNBP1 Hermansky-Pudlak syndrome 7,614076 
BLOC1S3 Hermansky-Pudlak syndrome 8,614077 
BLOC1S6 Hermansky-pudlak syndrome 9, 614171
ZIC3 Heterotaxy, visceral, 1, X-linked 306955
CFC1 Heterotaxy, visceral, 2, autosomal, 605376
ACVR2B Heterotaxy, visceral, 4, autosomal, 613751 
NODAL Heterotaxy, visceral, 5, 270100 
FLNA Heterotopia, periventricular, 300049
FLNA Heterotopia, periventricular, ED variant, 300537
HEXA Hex A pseudodeficiency, 272800 
BMP2 HFE hemochromatosis, modifier of, 235200 
EDN1 High density lipoprotein cholesterol level QTL 7 
CETP High density lipoprotein cholesterol level QTL 10, 143470 
LPL High density lipoprotein cholesterol level QTL 11 
LIPC High density lipoprotein cholesterol level QTL 12, 612797 
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870
GDNF Hirschsprung disease, susceptibility to, 3, 613711 
EDNRB Hirschsprung disease, susceptibility to, 600155
EDN3 Hirschsprung disease, susceptibility to, 613712 
CREB1 Histiocytoma, angiomatoid fibrous, somatic, 612160
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome,602782 
HMGCL HMG-CoA lyase deficiency, 246450 
HMGCS2 HMG-CoA synthase-2 deficiency, 605911 
KLHDC8B Hodgkin lymphoma, 236000
HLCS Holocarboxylase synthetase deficiency, 253270 
SIX3 Holoprosencephaly-2, 157170
SHH Holoprosencephaly-3, 142945
TGIF1 Holoprosencephaly-4, 142946 
ZIC2 Holoprosencephaly-5, 609637 
PTCH1 Holoprosencephaly-7, 610828 
GLI2 Holoprosencephaly-9, 610829 
CDON Holoprosencephaly 11, 614226 
TBX5 Holt-Oram syndrome, 142900 
CTH Homocysteine, total plasma, elevated 
MTHFR Homocystinuria due to MTHFR deficiency, 236250 
CBS-CEL Homocystinuria, B6-responsive and nonresponsive types, 236200
MMADHC Homocystinuria, cbID type, 277410 
MTRR Homocystinuria-megaloblastic anemia, cbl E type, 236270
MTR Homocystinuria-megaloblastic anemia, cblG complementation type, 250940
HPRT1 HPRT-related gout,300323 
SCN9A HSAN2D,autosomal recessive,243000 
PTHLH Humoral hypercalcemia of malignancy 
HTT Huntington disease, 143100
PRNP Huntington disease-like 1, 603218
JPH3 Huntington disease-like 2, 606438
LMNA Hutchinson-Gilford progeria,176670 
ANTXR2 Hyaline fibromatosis syndrome,228600 
NLRP7 Hydatidiform mole 
KHDC3L Hydatidiform mole, recurrent, 2, 614293
ARX Hydranencephaly with abnormal genitalia, 300215 
L1CAM Hydrocephalus due to aqueductal stenosis, 307000
L1CAM Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000
L1CAM Hydrocephalus with Hirschsprung disease, 307000
MPDZ Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 
CCDC88C Hydrocephalus, nonsyndromic, autosomal recessive, 236600
KIF7 Hydrolethalus syndrome 2, 614120 
HYLS1 Hydrolethalus syndrome, 236680 
KCNJ5 Hyperaldosteronism, familial, type III, 613677 
APOC3 Hyperalphalipoproteinemia 2, 614028
CETP Hyperalphalipoproteinemia, 143470
CA5A Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3) 
CYP21A2 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 
UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 
SLCO1B1-SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 
BLVRA Hyperbiliverdinemia, 614156 
CYP24A1 Hypercalcemia, infantile, 143880
BCMO1 Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300 
CA12 Hyperchlorhidrosis, isolated, 143860
BAAT-EPHX1-TJP2 Hypercholanemia, familial, 607748 
APOB Hypercholesterolemia, due to ligand-defective apo B, 144010 
PCSK9 Hypercholesterolemia, familial, 3, 603776
GHR-APOA2 Hypercholesterolemia, familial, modification of, 143890
LDLRAP1 Hypercholesterolemia,familial,autosomal recessive,603813 
APOA5 Hyperchylomicronemia, late-onset, 144650 
GLRB Hyperekplexia 2, autosomal recessive, 614619
SLC6A5 Hyperekplexia 3, 614618
GLRA1 Hyperekplexia, hereditary 1, autosomal dominant or recessive,149400 
PDGFRA Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 
FTL Hyperferritinemia-cataract syndrome, 600886
SLC6A20-SLC6A19 Hyperglycinuria, 138500
MVK Hyper-IgD syndrome, 260920
STAT3 Hyper-IgE recurrent infection syndrome, 147060
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 
ABCC8 Hyperinsulinemic hypoglycemia, familial, 1, 256450
KCNJ11 Hyperinsulinemic hypoglycemia, familial, 2, 601820
GCK Hyperinsulinemic hypoglycemia, familial, 3, 602485 
HADH Hyperinsulinemic hypoglycemia, familial, 4, 609975 
SLC16A1 Hyperinsulinemic hypoglycemia, familial, 7, 610021 
GLUD1 Hyperinsulinism-hyperammonemia syndrome, 606762 
SCN4A Hyperkalemic periodic paralysis, type 2, 170500
APOC2 Hyperlipoproteinemia, type Ib, 207750 
AASS Hyperlysinemia, 238700 
SLC30A10 Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 
ADK Hypermethioninemia due to adenosine kinase deficiency, 614300 
AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 
MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III 
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 
LRP5 Hyperostosis, endosteal, 144750
AGXT Hyperoxaluria, primary, type 1, 259900
AGK Hyperoxaluria, primary, type 1, 259900 
GRHPR Hyperoxaluria, primary, type II, 260000 
HOGA1 Hyperoxaluria, primary, type III, 613616 
CDC73 Hyperparathyroidism, familial primary, 145000 
CASR Hyperparathyroidism,neonatal,239200 
CDC73 Hyperparathyroidism-jaw tumor syndrome, 145001 
PTS Hyperphenylalaninemia, BH4-deficient, A, 261640 
GCH1 Hyperphenylalaninemia, BH4-deficient, B, 233910 
QDPR Hyperphenylalaninemia, BH4-deficient, C, 261630 
PCBD1 Hyperphenylalaninemia, BH4-deficient, D,264070 
PAH Hyperphenylalaninemia, non-PKU mild, 261600 
PIGV Hyperphosphatasia with mental retardation syndrome 1, 239300 
PIGO Hyperphosphatasia with mental retardation syndrome 2, 614749 
PGAP2 Hyperphosphatasia with mental retardation syndrome 3, 614207 
PGAP3 Hyperphosphatasia with mental retardation syndrome 4, 615716 
KITLG Hyperpigmentation with or without hypopigmentation,145250 
INS Hyperproinsulinemia, familial, with or without diabetes
PRLR Hyperprolactinemia, 615555 
PRODH Hyperprolinemia, type I, 239500
ALDH4A1 Hyperprolinemia, type II, 239510 
REN Hyperproreninemia 
AGTR1-PTGIS Hypertension, essential, 145500
AGT-ECE1 Hypertension, essential, susceptibility to, 145500
TSHR Hyperthyroidism, familial gestational, 603373 
TSHR Hyperthyroidism, nonautoimmune, 609152
ABCC9 Hypertrichotic osteochondrodysplasia, 239850 
APOA5-RP1 Hypertriglyceridemia, susceptibility to, 145750 
GPD1 Hypertriglyceridemia, transient infantile, 614480 
SLCO2A1 Hypertrophic osteoarthropathy primary autosomal recessive 2,614441 
HPGD Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100
CFTR Hypertrypsinemia, neonatal 
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
UMOD Hyperuricemic nephropathy, familial juvenile 1, 162000 
REN Hyperuricemic nephropathy,familial juvenile 2,613092 
CYP11B2 Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 
CYP11B2 Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 
APOA1 Hypoalphalipoproteinemia, 604091
ANGPTL3 Hypobetalipoproteinemia, familial, 2, 605019
APOB Hypobetalipoproteinemia, normotriglyceridemic
GNA11 Hypocalcemia,autosomal dominant 2,615361 
CASR Hypocalcemia,autosomal dominant,601198 
AP2S1 Hypocalciuric hypercalcemia, familial, type III, 600740
GNA11 Hypocalciuric hypercalcemia, type II, 145981 
CASR Hypocalciuric hypercalcemia,type I,145980 
CP Hypoceruloplasminemia, hereditary, 604290 
FGFR3 Hypochondroplasia, 146000
HBA2 Hypochromic microcytic anemia
FGG Hypofibrinogenemia, gamma type 
POLR3A hypogonadism, 607694 
POLR3B hypogonadism, 614381 
LHB Hypogonadism, hypergonadotropic
KAL1 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 
FGFR1 Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 
PROK2 Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 
CHD7 Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 
FGF8 Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 
GNRHR Hypogonadotropic hypogonadism 7 with or without anosmia, 138850 
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 
NSMF Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 
TAC3 Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 
TACR3 Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 
GNRH1 Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 
KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 
SPRY4 Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 
IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 
DUSP6 Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 
FGF17 Hypogonadotropic hypogonadism 20 with or without anosmia, 615270 
FLRT3 Hypogonadotropic hypogonadism 21 with or without anosmia, 615271 
FSHB Hypogonadotropic hypogonadism 24 without anosmia 
AKT2 Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 
CACNA1S Hypokalemic periodic paralysis, type 1, 170400
SCN4A Hypokalemic periodic paralysis, type 2, 613 
TRPM6 Hypomagnesemia 1, intestinal,602014 
FXYD2 Hypomagnesemia-2, renal, 154020 
CLDN16 Hypomagnesemia 3, renal, 248250
EGF Hypomagnesemia 4, renal, 611718 
CLDN19 Hypomagnesemia 5, renal, with ocular involvement, 248190
CNNM2 Hypomagnesemia 6, renal, 613882
DARS Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
SLC25A12 Hypomyelination, global cerebral, 612949
GCM2 Hypoparathyroidism familial isolated 
PTH Hypoparathyroidism, autosomal dominant, 146200 
PTH Hypoparathyroidism, autosomal recessive, 146200 
GATA3 Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 
TBCE Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 
ALPL Hypophosphatasia, childhood, 241510 
ALPL Hypophosphatasia, infantile, 241500 
SLC34A3 Hypophosphatemic rickets with hypercalciuria, 241530
DMP1 Hypophosphatemic rickets, AR, 241520 
FGF23 Hypophosphatemic rickets, autosomal dominant, 193100 
ENPP1 Hypophosphatemic rickets, autosomal recessive,2,613312 
PHEX Hypophosphatemic rickets, X-linked dominant, 307800
CLCN5 Hypophosphatemic rickets,300554 
GJA1 Hypoplastic left heart syndrome 1,241550 
B2M Hypoproteinemia, hypercatabolic, 241600
F2 Hypoprothrombinemia, 613679
AR Hypospadias 1,X-linked,300633 
MAMLD1 Hypospadias 2,X-linked,300758 
GLI3 Hypothalamic hamartomas, somatic, 241800 
TSHB Hypothryoidism, congenital, nongoitrous 4, 275100
IGSF1 Hypothyroidism, central, and testicular enlargement, 300888
PAX8 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 
TSHR Hypothyroidism, congenital, nongoitrous, 1 275200
THRA Hypothyroidism, congenital, nongoitrous, 6, 614450
APCDD1 Hypotrichosis 1,605389 
CDSN Hypotrichosis 2,146520 
KRT74 Hypotrichosis 3,613981 
HR Hypotrichosis 4,146550 
DSG4 Hypotrichosis 6,607903 
LIPH Hypotrichosis 7,604379 
LPAR6 Hypotrichosis 8,278150 
SNRPE Hypotrichosis 11,615059 
DSC3 Hypotrichosis and recurrent skin vesicles,613102 
CDH3 Hypotrichosis, congenital, with juvenile macular dystrophy,601553 
SOX18 Hypotrichosis-lymphedema-telangiectasia syndrome,607823 
SOX18 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,137940 
SLC22A12 Hypouricemia, renal, 220150
SLC2A9 Hypouricemia,renal,2,612076 
GJB2 Hystrix-like ichthyosis with deafness, 602540
KRT2 Ichthyosis bullosa of Siemens,146800 
TGM1 Ichthyosis congenital autosomal recessive 1,242300 
ALOXE3 Ichthyosis congenital autosomal recessive 3,606545 
PNPLA1 Ichthyosis congenital autosomal recessive 10,615024 
KRT1 Ichthyosis histrix,Curth-Macklin type,146590 
SLC27A4 Ichthyosis prematurity syndrome,608649 
FLG Ichthyosis vulgaris,146700 
KRT10 Ichthyosis with confetti,609165 
ST14 Ichthyosis with hypotrichosis,610765 
ABCA12 Ichthyosis, autosomal recessive 4B (harlequin),242500 
ALOX12B Ichthyosis, congenital, autosomal recessive 2, 242100 
ABCA12 Ichthyosis, congenital, autosomal recessive 4A,601277 
KRT1 Ichthyosis, cyclic, with epidermolytic hyperkeratosis,607602 
ELOVL4 Ichthyosis, spastic quadriplegia, and mental retardation, 614457 
STS Ichthyosis, X-linked, 308100 
CYP4F22 Ichthyosis,congenital,autosomal recessive 5,604777 
NIPAL4 Ichthyosis,congenital,autosomal recessive 6,612281 
LIPN Ichthyosis,congenital,autosomal recessive 8,613943 
KRT10 Ichthyosis,cyclic,with epidermolytic hyperkeratosis,607602 
CLDN1 Ichthyosis,leukocyte vacuoles,alopecia and sclerosing cholangitis,607626 
CERS3 Ichtyosis, congenital, autosomal recessive 9, 615023 
MBTPS2 IFAP syndrome with or without BRESHECK syndrome, 308205
IL21R IgE, elevated level of, 147050 
CDKN1C IMAGE syndrome, 614732 
SLC36A2 Iminoglycinuria, digenic, 242600 Hyperglycinuria, 138500
SLC6A19 Iminoglycinuria,digenic,242600 
CORO1A Immunodeficiency 8, 615401
ORAI1 Immunodeficiency 9, 612782
RAI1 Immunodeficiency 9, 612782 
STIM1 Immunodeficiency 10, 612783
PIK3CD Immunodeficiency 14, 615513 
CD3G Immunodeficiency 17, CD3 gamma deficient, 615607 
FCGR3A Immunodeficiency 20, 615707 
CASP8 Immunodeficiency due to CASP8 deficiency, 607271
CD247 Immunodeficiency due to defect in CD3-zeta, 610163
LAMTOR2 Immunodeficiency due to defect in MAPBP-interacting protein, 610798
FCN3 Immunodeficiency due to ficolin 3 deficiency, 613860
PNP Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 
AICDA Immunodeficiency with hyper-IgM, type 2, 605258
CD40 Immunodeficiency with hyper-IgM, type 3, 606843 
UNG Immunodeficiency with hyper IgM, type 5, 608106
ICOS Immunodeficiency, common variable, 1, 607594
CD19 Immunodeficiency, common variable, 3, 613493
TNFRSF13C Immunodeficiency, common variable, 4, 613494
MS4A1 Immunodeficiency, common variable, 5, 613495
CD81 Immunodeficiency, common variable, 6, 613496
LRBA Immunodeficiency, common variable, 8, with autoimmunity, 614700
NFKB2 Immunodeficiency, common variable, 10, 615577 
IKBKG Immunodeficiency, isolated, 300584
IL21R Immunodeficiency, primary, autosomal recessive, IL21R-related, 615207 
CD40LG Immunodeficiency, X-linked, with hyper-IgM, 308230
MAGT1 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 
ZBTB24 Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069
FOXP3 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
TNFRSF13B Immunoglobulin A deficiency 2, 609529
VCP Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 
HNRNPA1 Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia 3, 615424
GNE Inclusion body myopathy, autosomal recessive, 600737 
MYH2 Inclusion body myopathy-3, 605637
IKBKG Incontinentia pigmenti, type II, 308300
GHR Increased responsiveness to growth hormone 
ACO2 Infantile cerebellar-retinal degeneration, 614559 
NBAS Infantile liver failure syndrome 2,616483 
PLA2G6 Infantile neuroaxonal dystrophy 1, 256600
FADD Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759
NOD2 Inflammatory bowel disease 1, 266600
IRGM Inflammatory bowel disease 19, 612278 
IL10RB Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 
IL10RA Inflammatory bowel disease 28, early onset, autosomal recessive, 613148
ADAM17 Inflammatory skin and bowel disease neonatal,614328 
NTRK1 Insensitivity to pain, congenital, with anhidrosis, 256800
PRNP Insomnia, fatal familial, 600072
PPARG-PPP1R3A Insulin resistance, severe, digenic, 604367
IGF1R Insulin-like growth factor I, resistance to, 270450
SETD5 Intellectual disability (Grozeva (2014) Am J Hum Genet 94, 618) 
IL2RA Interleukin-2 receptor, alpha chain, deficiency of, 606367
ITGA3 Interstitial lung disease, nephrotic syndrome and epidermolysis bullosa, congenital,614748 
FAN1 Interstitial nephritis, karyomegalic, 614817 
COL9A2 Intervertebral disc disease, susceptibility to, 603932
COL9A3 Intervertebral disc disease, susceptibility to, 603932 
TTC7A Intestinal atresia, multiple, 243150 
FLNA Intestinal pseudoobstruction, neuronal, 300048
GIF Intrinsic factor deficiency, 261000
IKBKG Invasive pneumococcal disease, recurrent isolated, 2, 300640 
IRAK4 IRAK4 deficiency, 607676
FOXC1 Iridogoniodysgenesis, type 1, 601631
PITX2 Iridogoniodysgenesis,type 2,137600 
FOXC1 Iris hypoplasia and glaucoma, 601631 
TMPRSS6 Iron-refractory iron deficiency anemia, 206200
ACAD8 Isobutyryl-CoA dehydrogenase deficiency, 611283 
IVD Isovaleric acidemia, 243500 
FGFR1-FGFR2 Jackson-Weiss syndrome, 123150
CNNM4 Jalili syndrome,217080 
RBBP8 Jawad syndrome,251255 
TIMM8A Jensen syndrome, 311150 
KCNE1 Jervell and Lange-Nielsen syndrome 2, 612347
KCNQ1 Jervell and Lange-Nielsen syndrome, 220400
UBR1 Johanson-Blizzard syndrome, 243800 
INPP5E Joubert syndrome 1,213300 
TMEM216 Joubert syndrome 2, 608091 
AHI1 Joubert syndrome 3, 608629
NPHP1 Joubert syndrome 4,609583 
CEP290 Joubert syndrome 5,610188 
TMEM67 Joubert syndrome 6,610688 
RPGRIP1L Joubert syndrome 7, 611560 
ARL13B Joubert syndrome 8, 612291 
CC2D2A Joubert syndrome 9,612285 
OFD1 Joubert syndrome 10,300804 
TCTN1 Joubert syndrome 13, 614173 
TMEM237 Joubert syndrome 14, 614424
CEP41 Joubert syndrome 15, 614464 
TMEM138 Joubert syndrome 16, 614465
C5orf42 Joubert syndrome 17, 614615 
TCTN3 Joubert syndrome 18,614815 
ZNF423 Joubert syndrome 19,614844 
TMEM231 Joubert syndrome 20, 614970 
CSPP1 Joubert syndrome 21, 615636 
BMPR1A Juvenile polyposis syndrome, infantile form, 174900 
SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
KMT2D Kabuki syndrome 1, 147920 
KDM6A Kabuki syndrome 2, 300867 
SRD5A3 Kahrizi syndrome, 612713 
NAGA Kanzaki disease, 609242
ANKRD11 KBG syndrome, 148050 
FAM111A Kenny-Caffey syndrome, type 2, 127000
TBCE Kenny-Caffey syndrome-1, 244460
PAX6 Keratitis, 148190
GJB2 Keratitis-ichthyosis-deafness syndrome, 148210
VSX1 Keratoconus 1, 148300 
AAGAB Keratoderma palmoplantar punctate type IA,148600 
GJB2 Keratoderma, palmoplantar, with deafness, 148350
SAT1 Keratosis follicularis spinulosa decalvans, 308800 
MBTPS2 Keratosis follicularis spinulosa decalvans, X-linked, 308800 
POMP Keratosis linearis with ichthyosis congenita and sclerosing keratoderma,601952 
DSG1 Keratosis palmoplantaris striata I,AD,148700 
DSP Keratosis palmoplantaris striata II,612908 
KRT1 Keratosis palmoplantaris striata III,607654 
MGP Keutel syndrome,245150 
FERMT1 Kindler syndrome,173650 
RYR1 King-Denborough syndrome, 145600 
EHMT1 Kleefstra syndrome, 610253 
GDF6 Klippel-Feil syndrome 1, autosomal dominant, 118100
MEOX1 Klippel-Feil syndrome 2, 214300
GDF3 Klippel-Feil syndrome 3, autosomal dominant, 613702 
COL2A1 Kniest dysplasia, 156550
COL18A1 Knobloch syndrome, type 1, 267750
ROGDI Kohlschutter-Tonz syndrome, 226750 
KANSL1 Koolen-De Vries syndrome, 610443 
GH1 Kowarski syndrome, 262650 
GALC Krabbe disease, 245200 
PSAP Krabbe disease, atypical, 611722 
PRNP Kuru, susceptibility to, 245300 
L2HGDH L-2-hydroxyglutaric aciduria, 236792 
LCT Lactase deficiency, congenital, 223000 
MCM6 Lactase persistance/nonpersistance, 223100
LDHB Lactate dehydrogenase-B deficiency, 614128 
FGFR2- FGFR3-FGF10 LADD syndrome, 149730
MYH7 Laing distal myopathy, 160500
SHOX Langer mesomelic dysplasia, 249700 
GHR Laron dwarfism, 262500
FLNB Larsen syndrome, 150250 
LAMA3 Laryngoonychocutaneous syndrome,245660 
SC5D Lathosterolosis, 607330 
HADHA LCHAD deficiency, 609016 
LDLR LDL cholesterol level QTL2, 143890 
ALAD Lead poisoning, susceptibility to, 612740 
GUCY2D Leber congenital amaurosis 1, 204000
RPE65 Leber congenital amaurosis 2, 204100 
SPATA7 Leber congenital amaurosis 3, 604232
AIPL1 Leber congenital amaurosis 4, 604393
LCA5 Leber congenital amaurosis 5, 604537 
RPGRIP1 Leber congenital amaurosis 6, 613826
CRX Leber congenital amaurosis 7, 613829 
CRB1 Leber congenital amaurosis 8, 613835
NMNAT1 Leber congenital amaurosis 9, 608553 
CEP290 Leber congenital amaurosis 10,611775 
IMPDH1 Leber congenital amaurosis 11, 613837 
RD3 Leber congenital amaurosis 12, 610612 
RDH12 Leber congenital amaurosis 13, 612712 
LRAT Leber congenital amaurosis 14, 613341 
TULP1 Leber congenital amaurosis 15, 613843 
KCNJ13 Leber congenital amaurosis 16, 614186 
GDF6 Leber congenital amaurosis 17, 615360 
DTNA Left ventricular noncompaction 1, with or without congenital heart defects, 604169
LDB3 Left ventricular noncompaction 3, with or without dilated cardiomyopathy, 601493 
ACTC1 Left ventricular noncompaction 4, 613424 
MYH7 Left ventricular noncompaction 5, 613426 
TNNT2 Left ventricular noncompaction 6, 601494 
MIB1 Left ventricular noncompaction 7, 615092 
PRDM16 Left ventricular noncompaction 8, 615373
TPM1 Left ventricular noncompaction 9, 611878 
MYBPC3 Left ventricular noncompaction 10, 615396 
LEFTY2 Left-right axis malformations (Koasaki (1999) Am J Hum Genet 64, 712) 
COL2A1 Legg-Calve-Perthes disease, 150600
SPRED1 Legius syndrome, 611431 
COX15 Leigh syndrome due to cytochrome c oxidase deficiency, 256000
NDUFA2-NDUFAF6-NDUFS3-FOXRED1-NDUFS8-NDUFA12-NDUFA9 Leigh syndrome due to mitochondrial complex I deficiency, 256000
COX10 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 
NDUFS4-SDHA-BCS1L-NDUFAF2-NDUFS7 Leigh syndrome, 256000
SURF1 Leigh syndrome, due to COX deficiency, 256000 
LRPPRC Leigh syndrome, French-Canadian type, 220111 
PDHA1 Leigh syndrome, X-linked, 308930 
FH Leiomyomatosis and renal cell cancer, 150800 
PTDSS1 Lenz-Majewski hyperostotic dwarfism, 151050 
PTPN11 LEOPARD syndrome 1, 151100
RAF1 LEOPARD syndrome 2, 611554 
BRAF LEOPARD syndrome 3, 613707 
INSR Leprechaunism, 246200
SHOX Leri-Weill dyschondrosteosis, 127300
HPRT1 Lesch-Nyhan syndrome, 300322 
GLE1 Lethal congenital contracture syndrome 1, 253310
ERBB3 Lethal congenital contractural syndrome 2, 607598
PIP5K1C Lethal congenital contractural syndrome 3, 611369 
MLLT10 Leukemia acute myeloid 
FLT3 Leukemia, acute lymphoblastic 
NBN Leukemia, acute lymphoblastic, 613065 
ARNT Leukemia, acute myeloblastic
GMPS Leukemia, acute myelogenous, 601626 
ARHGEF12-CEBPA-FLT3-LPP-NUP214-PICALM-RUNX1-WHSC1L1-NPM1-NSD1 Leukemia, acute myeloid, 601626
FLT3 Leukemia, acute myeloid, reduced survival in
ETV6 Leukemia, acute myeloid, somatic, 601626
MLLT11 Leukemia, acute myelomonocytic
NPM1 Leukemia, acute promyelocytic, NPM/RARA type
NUMA1 Leukemia, acute promyelocytic, NUMA/RARA type
ZBTB16 Leukemia, acute promyelocytic, PL2F/RARA type
PML Leukemia, acute promyelocytic, PML/RARA type
STAT5B Leukemia, acute promyelocytic, STAT5B/RARA type 
PICALM Leukemia, acute T-cell lymphoblastic 
BCR Leukemia, chronic myeloid, 608232 Leukemia, acute lymphocytic, 613065
ARHGAP26-NF1-PTPN11 Leukemia, juvenile myelomonocytic, 607785
GATA1 Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 
KMT2A Leukemia, myeloid/lymphoid or mixed-lineage, 159555 
ABL1 Leukemia, Philadelphia chromosome-positive, resistant to imatinib 
NUP214 Leukemia, T-cell acute lymphoblastic 
IKZF1 Leukemia,acute lymphoblastic 
JAK2 Leukemia,acute myelogenous,601626 
KIT Leukemia,acute myeloid,601626 
BCL2 Leukemia/lymphoma, B-cell, 2
TAL1 Leukemia-1, T-cell acute lymphocytic
TAL2 Leukemia-2, T-cell acute lymphoblastic
ITGB2 Leukocyte adhesion deficiency, 116920
FERMT3 Leukocyte adhesion deficiency, type III, 612840
LMNB1 Leukodystrophy, adult-onset, autosomal dominant, 169500
GJC2 Leukodystrophy, hypomyelinating, 2, 608804
AIMP1 Leukodystrophy, hypomyelinating, 3, 260600 
HSPD1 Leukodystrophy, hypomyelinating, 4, 612233 
FAM126A Leukodystrophy, hypomyelinating, 5, 610532 
TUBB4A Leukodystrophy, hypomyelinating, 6, 612438 
POLR3A Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic 
POLR3B Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic 
POLR1C Leukodystrophy, hypomyelinating,11,616494 
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 
SCP2 Leukoencephalopathy with dystonia and motor neuropathy, 613724 
EIF2B2-EIF2B5-EIF2B1-EIF2B3 Leukoencephalopathy with vanishing white matter, 603896
RNASET2 Leukoencephalopathy, cystic, without megalencephaly, 612951 
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids, 221820
EIF2B4 Leukoencephaly with vanishing white matter, 603896
LHCGR Leydig cell adenoma,somatic,with precocious puberty,176410 
LHCGR Leydig cell hypoplasia with hypergonadotropic hypogonadism,238320 
LHCGR Leydig cell hypoplasia with pseudohermaphroditism,238320 
PTEN Lhermitte-Duclos syndrome, 158350
SCNN1B Liddle syndrome, 177200
SCNN1G Liddle syndrome, 177200 
PITX1 Liebenberg syndrome, 186550 (4) 
TP53 Li-Fraumeni syndrome, 151623
CHEK2 Li-Fraumeni syndrome, 609265
LIG4 LIG4 syndrome, 606593
TP63 Limb-mammary syndrome,603543 
COX7B Linear skin defects with multiple congenital anomalies,300887 
LMF1 Lipase deficiency, combined, 246650
AGPAT2-AGPS Lipodystrophy, congenital generalized, type 1, 608594 
BSCL2 Lipodystrophy, congenital generalized, type 2, 269700
PTRF Lipodystrophy, congenital generalized, type 4, 613327
PPARG Lipodystrophy, familial partial, type 3, 604367
PLIN1 Lipodystrophy, familial partial, type 4, 613877 
CAV1 Lipodystrophy,congenital generalized,type 3,612526 
LMNA Lipodystrophy,familial partial,2,151660 
STAR Lipoid adrenal hyperplasia, 201710 
MEN1 Lipoma, somatic
LPL Lipoprotein lipase deficiency, 238600 
RELN Lissencephaly 2 (Norman-Roberts type), 257320 
TUBA1A Lissencephaly 3, 611603 
NDE1 Lissencephaly 4 (with microcephaly), 614019 
LAMB1 Lissencephaly 5, 615191
PAFAH1B1 Lissencephaly, 607432 
ARX Lissencephaly, X-linked 2, 300215
DCX Lissencephaly, X-linked, 300067
TRMU Liver failure, transient infantile, 613070 
TGFBR1 Loeys-Dietz syndrome, type 1A, 609192
TGFBR2 Loeys-Dietz syndrome, type 1B, 610168
TGFBR1 Loeys-Dietz syndrome, type 2A, 608967
TGFBR2 Loeys-Dietz syndrome, type 2B, 610380 
SMAD3 Loeys-Dietz syndrome type 3,613795 
TGFB2 Loeys-Dietz syndrome type 4,614816 
KCNQ1 Long QT syndrome 1, acquired, susceptibility to, 192500 
KCNH2 Long QT syndrome-2, acquired, susceptibility to, 613688
SCN5A Long QT syndrome-3, 603830
ANK2 Long QT syndrome-4, 600919
KCNE1 Long QT syndrome-5, 613695 
KCNE2 Long QT syndrome-6, 613693
CAV3 Long QT syndrome-9, 611818 
SCN4B Long QT syndrome-10, 611819
AKAP9 Long QT syndrome-11, 611820
SNTA1 Long QT syndrome 12 
KCNJ5 Long QT syndrome 13, 613485
NF2 loss of heterozygosity Neurofibromatosis, type 2, 101000
PCSK9 Low density lipoprotein cholesterol level QTL 1, 603776 
OCRL Lowe syndrome, 309000 
MED12 Lujan-Fryns syndrome, 309520
PPP2R1B Lung cancer, 211980
MPO Lung cancer, protection against, in smokers 
CYP2A6 Lung cancer, resistance to, 211980 
MAP3K8-KRAS Lung cancer, somatic, 211980
ERCC6-FASLG Lung cancer, susceptibility to, 211980 
LHCGR Luteinizing hormone resistance,female,238320 
TSC1 Lymphangioleiomyomatosis,606690 
TSC2 Lymphangioleiomyomatosis,somatic,606690 
GJC2 Lymphedema, hereditary, IC, 613480 
FLT5 Lymphedema,hereditary,IA,153100 
FOXC2 Lymphedema-distichiasis syndrome with/without renal disease and diabetes mellitus,153400 
RAP1GDS1 Lymphocytic leukemia, acute T-cell
BCL10 Lymphoma, follicular, somatic, 613024
BCL10 Lymphoma, MALT, somatic, 137245
RAD54B Lymphoma, non-Hodgkin 
RAD54L Lymphoma, non-Hodgkin,somatic, 605027
MAD1L1 Lymphoma, somatic
ITK Lymphoproliferative syndrome 1, 613011
CD27 Lymphoproliferative syndrome 2, 615122
XIAP Lymphoproliferative syndrome, X-linked, 2, 300635
SH2D1A Lymphoproliferative syndrome, X-linked, 308240
SLC7A7 Lysinuric protein intolerance, 222700
PLOD3 Lysyl hydroxylase 3 deficiency, 612394 
ATXN3 Machado-Joseph disease, 109150
RIN2 Macrocephaly alopecia cutis laxa and scoliosis,613075 
RNF135 Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192
PTEN Macrocephaly/autism syndrome, 605309
RPS14 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 
CD36 Macrothrombocytopenia 
MYH9 Macrothrombocytopenia and progressive sensorineural deafness,600208 
TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112
CHST6 Macular corneal dystrophy, 217800 
ABCA4 Macular degeneration, age-related, 2, 153800
RAX2 Macular degeneration, age-related, 6,613757 
TLR4 Macular degeneration, age-related, 10, 611488 
CST3 Macular degeneration, age-related, 11, 611953 
ERCC6 Macular degeneration, age-related, susceptibility to 5, 613761
CNGB3 Macular degeneration, juvenile, 248200 
RPGR Macular degeneration, X-linked atrophic, 300834
FBLN5 Macular degeneration,age-related,3,608895 
HTRA1 Macular degeneration,age-related,7,610149 
HTRA1 Macular degeneration,age-related,neovascular type,610149 
PRPH2 Macular dystrophy
ELOVL4 Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110
PRPH2 Macular dystrophy, patterned, 169150
PROM1 Macular dystrophy, retinal, 2, 608051 
PRPH2 Macular dystrophy, vitelliform, 608161
BEST1 Maculopathy, bull's-eye
IMPG2 Maculopathy, IMPG2-related, 613581 
IFT140 Mainzer-Saldino syndrome, 266920
LPIN2 Majeed syndrome, 609628 
CD36 Malaria, cerebral, reduced risk of, 611162
CD36 Malaria, cerebral, susceptibility to, 611162
BCL10 Male germ cell tumor, somatic, 273300,
LHB Male pseudohermaphroditism due to defective LH 
RYR1 Malignant hyperthermia susceptibility 1, 145600
CACNA1S Malignant hyperthermia susceptibility 5, 601887
PTEN Malignant melanoma, somatic, 155600
MLYCD Malonyl-CoA decarboxylase deficiency, 248360 
LMNA Malouf syndrome,212112 
POLD1 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome,615381 
ZMPSTE24 Mandibuloacral dysplasia with type B lipodystrophy,608612 
LMNA Mandibuloacral dysplasia,248370 
EDNRA mandibulofacial dysostosis with alopecia, 616367 
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type, 610536 
MAN2B1 Mannosidosis, alpha-, types I and II, 248500 
MANBA Mannosidosis, beta, 248510 
PPM1K Maple syrup urine disease, mild variant, 615135 
BCKDHA Maple syrup urine disease, type Ia, 248600 
BCKDHB Maple syrup urine disease, type Ib, 248600 
DBT Maple syrup urine disease, type II, 248600 
PIEZO2 Marden-Walker syndrome, 248700 
FBN1 Marfan syndrome, 154700
SIL1 Marinesco-Sjogren syndrome, 248800 
COL11A1 Marshall syndrome, 154780
NFIX Marshall-Smith syndrome, 602535 
RFX6 Martinez-Frias syndrome, 601346
RAB3GAP2 Martsolf syndrome, 212720
L1CAM MASA syndrome, 303350
MASP2 MASP2 deficiency, 613791
FBN1 MASS syndrome, 604308
KIT Mast cell disease,154800 
SPG21 Mast syndrome, 248900 
SGCE maternally imprinted Dystonia-11, myoclonic, 159900 
NEUROD1 Maturity-onset diabetes of the young 6, 606394 
INS Maturity-onset diabetes of the young, type 10, 613370
BLK Maturity-onset diabetes of the young, type 11, 613375
PAX4 Maturity-onset diabetes of the young, type IX, 612225
KLF11 Maturity-onset diabetes of the young, type VII, 610508
CERKL Maturity-onset diabetes of the young, type VIII, 609812 
MYH9 May-Hegglin anomaly, 155100
PYGM McArdle disease, 232600 
GNAS McCune-Albright syndrome, 174800
MKKS McKusick-Kaufman syndrome, 236700 
XK McLeod syndrome with or without chronic granulomatous disease, 300842
WT1 Meacham syndrome,136680 
MKS1 Meckel syndrome 1, 249000 
TMEM216 Meckel syndrome 2,603194 
TMEM67 Meckel syndrome 3,607361 
CEP290 Meckel syndrome 4,611134 
RPGRIP1L Meckel syndrome 5,611561 
CC2D2A Meckel syndrome 6,612284 
NPHP3 Meckel syndrome 7,267010 
TCTN2 Meckel syndrome 8, 613885 
B9D1 Meckel syndrome 9, 614209 
B9D2 Meckel syndrome 10, 614175 
TMEM231 Meckel syndrome 11,615397 
AP1S1 MEDNIK syndrome, 609313 
MUC1 Medullary cystic kidney disease 1, 174000
UMOD Medullary cystic kidney disease 2,603860 
NTRK1 Medullary thyroid carcinoma, familial, 155240 
SUFU Medulloblastoma desmoplastic,155255 
BRCA2-PTCH2 Medulloblastoma, 155255
KRT12-KRT3 Meesmann corneal dystrophy, 122100 
MKL1 Megakaryoblastic leukemia, acute
HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925
HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental 
MLC1 Megalencephalic leukoencephalopathy with subcortical cysts, 604004 -3 
AKT3-PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387 
DHFR Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 
CUBN Megaloblastic anemia-1, Finnish type, 261100
AMN Megaloblastic anemia-1, Norwegian type, 261100 
CHRDL1 Megalocornea 1, X-linked 309300
ORC1 Meier-Gorlin syndrome 1, 224690 
ORC4 Meier-Gorlin syndrome 2, 613800
ORC6 Meier-Gorlin syndrome 3, 613803
CDT1 Meier-Gorlin syndrome 4, 613804
CDC6 Meier-Gorlin syndrome 5, 613805
CDKN2A Melanoma and neural system tumor syndrome,155755 
STK11 Melanoma malignant, somatic 
TYR Melanoma, cutaneous malignant, suscept 
MITF Melanoma, cutaneous malignant, susceptibility to, 8, 614456 
NF1 Melanoma, desmoplastic neurotrophic (2)
BRAF Melanoma, malignant, somatic
CDKN2A Melanoma,cutaneous malignant, 2,155601 
SLURP1 Meleda disease,248300 
FLNA Melnick-Needles syndrome, 309350
LEMD3 Melorheostosis with osteopoikilosis,155950 
BDNF Memory impairment, susceptibility to
PTEN-MN1 Meningioma, 607174
NF2 Meningioma, NF2-related, somatic, 607174
PDGFB Meningioma, SIS-related,607174 
SUFU Meningioma,familial,susceptibility to,607174 
ATP7A Menkes disease, 309400
CASK Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
PHF8 Mental retardation syndrome, X-linked, Siderius type, 300263 
FOXP1 Mental retardation with language impairment and autistic features, 613670 
SOBP Mental retardation, anterior maxillary protrusion, and strabismus, 613671 
MBD5 Mental retardation, autosomal dominant 1, 156200 
DOCK8 Mental retardation, autosomal dominant 2, 614113
CDH15 Mental retardation, autosomal dominant 3, 612580 
KIRREL3 Mental retardation, autosomal dominant 4, 612581 
SYNGAP1 Mental retardation, autosomal dominant 5, 612621 
GRIN2B Mental retardation, autosomal dominant 6, 613970
DYRK1A Mental retardation, autosomal dominant 7, 614104 
GRIN1 Mental retardation, autosomal dominant 8, 614254 
KIF1A Mental retardation, autosomal dominant 9, 614255 
CACNG2 Mental retardation, autosomal dominant 10, 614256 
ARID1B Mental retardation, autosomal dominant 12, 614562 
DYNC1H1 Mental retardation, autosomal dominant 13, 614563
ARID1A Mental retardation, autosomal dominant 14, 614607 
SMARCB1 Mental retardation, autosomal dominant 15, 614608 
SMARCA4 Mental retardation, autosomal dominant 16, 614609 
PACS1 Mental retardation, autosomal dominant 17, 615009 
GATAD2B Mental retardation, autosomal dominant 18, 615074 
CTNNB1 Mental retardation, autosomal dominant 19, 615075 
CTCF Mental retardation, autosomal dominant 21, 615502 
CCDC11 Mental retardation, autosomal dominant 23, 615761 (3) 
DPP6 Mental retardation, autosomal dominant 33, 616311 
PRSS12 Mental retardation, autosomal recessive 1, 249500 
CRBN Mental retardation, autosomal recessive 2, 607417 
CC2D1A Mental retardation, autosomal recessive 3, 608443 
NSUN2 Mental retardation, autosomal recessive 5, 611091 
GRIK2 Mental retardation, autosomal recessive, 6, 611092 
TUSC3 Mental retardation, autosomal recessive 7, 611093 
ST3GAL3 Mental retardation, autosomal recessive 12, 611090
TRAPPC9 Mental retardation, autosomal recessive 13, 613192 
TECR Mental retardation, autosomal recessive 14, 614020 
MAN1B1 Mental retardation, autosomal recessive 15, 614202 
MED23 Mental retardation, autosomal recessive 18, 614249 
LINS Mental retardation, autosomal recessive 27, 614340 
CRADD Mental retardation, autosomal recessive 34, 614499 
ADAT3 Mental retardation, autosomal recessive 36, 615286 
HERC2 Mental retardation, autosomal recessive 38, 615516 
TTI2 Mental retardation, autosomal recessive 39, 615541 
TAF2 Mental retardation, autosomal recessive 40, 615599 
KPTN Mental retardation, autosomal recessive 41, 615637 
DIP2B Mental retardation, FRA12A type, 136630 
MEF2C Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443
INPP5E Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 
CASK Mental retardation, with or without nystagmus, 300422 
NLGN4X Mental retardation, X-linked, 300495 
IQSEC2 Mental retardation, X-linked 1, 309530 
HCFC1 Mental retardation, X-linked 3, 309541 
FTSJ1 Mental retardation, X-linked 9, 309549 
HSD17B10 Mental retardation, X-linked 17/31, microduplication, 300705 
RPS6KA3 Mental retardation, X-linked 19, 300844 
IL1RAPL1 Mental retardation, X-linked 21/34, 300143
ARX Mental retardation, X-linked 29 and others, 300419
PAK3 Mental retardation, X-linked 30/47, 300558 
GDI1 Mental retardation, X-linked 41, 300849 
ZNF81 Mental retardation, X-linked 45, 300498 
ARHGEF6 Mental retardation, X-linked 46, 300436 
TSPAN7 Mental retardation, X-linked 58, 300210 
ACSL4 Mental retardation, X-linked 63, 300387 
RAB39B Mental retardation, X-linked 72, 300271 
DLG3 Mental retardation, X-linked 90, 300850 
BRWD3 Mental retardation, X-linked 93, 300659 
GRIA3 Mental retardation, X-linked 94, 300699 
MAGT1 Mental retardation, X-linked 95, 300716
SYP Mental retardation, X-linked 96, 300802 
ZNF711 Mental retardation, X-linked 97, 300803 
KIAA2022 Mental retardation, X-linked 98, 300912 
HSD17B10 Mental retardation, X-linked syndromic 10, 300220
FGD1 Mental retardation, X-linked syndromic 16, 305400 
MECP2 Mental retardation, X-linked, syndromic 13, 300055
UPF3B Mental retardation, X-linked, syndromic 14, 300676 
CUL4B Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 
CLIC2 Mental retardation, X-linked, syndromic 32, 300886 
SLC9A6 Mental retardation, X-linked syndromic, Christianson type, 300243 
AP1S2 Mental retardation, X-linked syndromic, Fried type, 300630 
MECP2 Mental retardation, X-linked syndromic, Lubs type, 300260 
UBE2A Mental retardation, X-linked syndromic, Nascimento-type, 300860 
ZDHHC9 Mental retardation, X-linked syndromic, Raymond type, 300799 
HUWE1 Mental retardation, X-linked syndromic, Turner type, 300706 
RAX-AFF2 Mental retardation, X-linked, FRAXE type, 309548
SMS Mental retardation, X-linked, Snyder-Robinson type, 309583 
KDM5C Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 
RAB40AL Mental retardation, X-linked, syndromic, Martin-Probst type, 300519 
OPHN1 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 
SOX3 Mental retardation, X-linked, with isolated growth hormone deficiency, 300123
ATRX Mental retardation-hypotonic facies syndrome, X-linked, 309580 
SDHD Merkel cell carcinoma, somatic
BCL10-WT1 Mesothelioma, somatic, 156240 
FGF16 Metacarpal 4-5 fusion, 609630
PTPN11 Metachondromatosis, 156250 
PSAP Metachromatic leukodystrophy due to SAP-b deficiency, 249900
ARSA Metachromatic leukodystrophy, 250100 
MMP13 Metaphyseal anadysplasia 1, 602111 
MMP9 Metaphyseal anadysplasia 2, 613073
PTH1R Metaphyseal chondrodysplasia, Murk-Jansen type, 156400 
COL10A1 Metaphyseal chondrodysplasia, Schmid type, 156500
RUNX2 Metaphyseal dysplasia with maxillary hypoplasia with/without brachydactyly,156510 
TRPV4 Metatropic dysplasia,156530 
CYB5R3 Methemoglobinemia, type I, 250800
CYB5A Methemoglobinemia, type II, 250800 
CYB5A Methemoglobinemia, type IV,250790 
HBB Methemoglobinemias, beta-
MAT1A Methionine adenosyltransferase deficiency, autosomal recessive, 250850 
ALDH6A1 Methylmalonate semialdehyde dehydrogenase deficiency, 614105 
MMACHC Methylmalonic aciduria and homocystinuria, cblC type, 277400 
LMBRD1 Methylmalonic aciduria and homocystinuria, cblF type, 277380 
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 
CD320 Methylmalonic aciduria due to transcobalamin receptor defect, 613646
MUT Methylmalonic aciduria, mut(0) type, 251000 
MMAA Methylmalonic aciduria, vitamin B12-responsive, 251100 
MMAB Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB 
MCEE Methylmalonyl-CoA epimerase deficiency, 251120 
MVK Mevalonic aciduria, 610377
RFXANK MHC class II deficiency, complementation group B, 209920
PCNT Microcephalic osteodysplastic primordial dwarfism, type II, 210720 
MCPH1 Microcephaly 1, primary, autosomal recessive, 251200 
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 
CDK5RAP2 Microcephaly 3, primary, autosomal recessive, 604804 
CASC5 Microcephaly 4, primary, autosomal recessive, 604321
ASPM Microcephaly 5, primary, autosomal recessive, 608716 
CENPJ Microcephaly 6, primary, autosomal recessive, 608393
STIL Microcephaly 7, primary, autosomal recessive, 612703 
CEP135 Microcephaly 8, primary, autosomal recessive, 614673 
CEP152 Microcephaly 9, primary, autosomal recessive, 614852
ZNF335 Microcephaly 10, primary, autosomal recessive, 615095
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive 1, 251270 
KIF11 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 
SLC25A19 Microcephaly, Amish type, 607196 
IER3IP1 Microcephaly, epilepsy, and diabetes syndrome, 614231 
MED17 Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 
QARS Microcephaly, progressive,seizures, and cerebral and cerebellar atrophy, 615760 
STAMBP Microcephaly-capillary malformation syndrome,614261 
ADAMTS18 Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 
BEST1 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220
SIX6 Microphthalmia with cataract 2, 212550
VSX2 Microphthalmia with coloboma 3, 610092 
SHH Microphthalmia with coloboma 5, 611638
GDF3 Microphthalmia with coloboma 6, 613703 
GDF6 Microphthalmia with coloboma 6, digenic, 613703
SMOC1 Microphthalmia with limb anomalies, 206920 
VSX2 Microphthalmia, isolated 2, 610093 
RAX Microphthalmia, isolated 3, 611038 
GDF6 Microphthalmia, isolated 4, 613094
MFRP Microphthalmia, isolated 5, 611040
PRSS56 Microphthalmia, isolated 6, 613517 
GDF3 Microphthalmia, isolated 7, 613704 
ALDH1A3 Microphthalmia, isolated 8, 615113 
TENM3 Microphthalmia, isolated, with coloboma 9, 61545 
BCOR Microphthalmia, syndromic 2, 300166 
SOX2 Microphthalmia, syndromic 3, 206900 
OTX2 Microphthalmia, syndromic 5 
BMP4 Microphthalmia, syndromic 6, 607932
HCCS Microphthalmia, syndromic 7, 309801 
STRA6 Microphthalmia, syndromic 9, 601186
VAX1 Microphthalmia, syndromic 11, 614402 
RARB Microphthalmia, syndromic 12, 615524 
ABCB6 Microphthalmia,isolated, with coloboma 7,614497 
RBP4 Microphthalmia,isolated,with coloboma 10,616428 
LTBP2 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750
ACE Microvascular complications of diabetes 3, 612624
HFE Microvascular complications of diabetes 7, 612635
MYO5B Microvillus inclusion disease, 251850
ATP1A2 Migraine, familial basilar, 602481 
CACNA1A Migraine, familial hemiplegic, 1, 141500 
ATP1A2 Migraine, familial hemiplegic, 2, 602481
SCN1A Migraine, familial hemiplegic, 3, 609634
CACNA1A Migraine, familial hemiplegic,1,with progressive cerebellar ataxia,141500 
EDNRA Migraine, resistance to,157300 
ESR1 Migraine, susceptibility to, 157300
DHODH Miller syndrome, 263750 
RYR1 Minicore myopathy with external ophthalmoplegia, 255320
DCC Mirror movements 1, 157600
RAD51 Mirror movements 2 
MSH6 Mismatch repair cancer syndrome, 276300 
MLH1-MSH2-PMS2 Mismatch repair cancer syndrome,276300 
NDUFAF1-NDUFAF3-NDUFAF4-NDUFAF5-NDUFB3-NDUFS6-NDUFV2-NUBPL-NDUFA1-NDUFA11-NDUFAF2-NDUFS1-NDUFS2-NDUFS3-NDUFS4-NDUFV1-COA5-COX14-COX10-COX20-PET100 Mitochondrial complex I deficiency, 252010
FOXRED1 Mitochondrial complex I deficiency,252010 
SDHAF1 Mitochondrial complex II deficiency, 252011
BCS1L Mitochondrial complex III deficiency, nuclear type 1, 124000 
TTC19 Mitochondrial complex III deficiency, nuclear type 2, 615157 
UQCRB Mitochondrial complex III deficiency, nuclear type 3, 615158
UQCRQ Mitochondrial complex III deficiency, nuclear type 4, 615159
UQCRC2 Mitochondrial complex III deficiency, nuclear type 5, 615160
CYC1 Mitochondrial complex III deficiency, nuclear type 6, 615453
ATPAF2 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
ATP5E Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 
TK2 Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 
DGUOK Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 
POLG Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 
POLG Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 
SUCLA2 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with/without methylmalonic aciduria), 612073
MPV17 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 
C10orf2 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type),271245 
RRM2B Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
SUCLG1 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
MGME1 Mitochondrial DNA depletion syndrome 11, 615084
FBXL4 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 
PUS1 Mitochondrial myopathy and sideroblastic anemia 1, 600462 
SLC25A3 Mitochondrial phosphate carrier deficiency, 610773
MPC1 Mitochondrial pyruvate carrier deficiency 
POLG Mitochondrial recessive ataxia syndrome, 607459 
SDHA Mitochondrial respiratory chain complex II deficiency, 252011
DYSF Miyoshi muscular dystrophy 1, 254130 
ANO5 Miyoshi muscular dystrophy 3, 613319 
HNF4A MODY, type I, 125850
GCK MODY, type II, 125851 
HNF1A MODY, type III, 600496 
PDX1 MODY,type IV,606392 
TIMM8A Mohr-Tranebjaerg syndrome, 304700
MOCS1 Molybdenum cofactor deficiency, type A, 252150 
MOCS2 Molybdenum cofactor deficiency, type B, 252150 
GPHN Molybdenum cofactor deficiency, type C, 252150 
KRT81-KRT83-KRT86 Monilethrix,158000 
IRF8 Monocyte and dendritic cell deficiency, recessive, 614894
SH3TC2 Mononeuropathy of the median nerve,mild,613353 
CEP19 Morbid obesity and spermatogenic failure, 615703 (3) 
PAX6 Morning glory disc anomaly, 120430
BUB1B Mosaic variegated aneuploidy syndrome 1, 257300
CEP57 Mosaic variegated aneuploidy syndrome 2, 614114
ZEB2 Mowat-Wilson syndrome, 235730 
GUCY1A3 Moyamoya 6 with achalasia, 615750 
ACTA2 Moyamoya disease 5,614042 
NLRP3 Muckle-Wells syndrome, 191900
CRTC1-MAML2 Mucoepidermoid salivary gland carcinoma
GNPTAB Mucolipidosis II alpha/beta, 252500 
GNPTG Mucolipidosis III gamma, 252605 
MCOLN1 Mucolipidosis IV, 252650 
SGSH Mucopolysaccharidisis type 3A (Sanfilippo A), 252900 
IDUA Mucopolysaccharidosis Ih, 607014
IDUA Mucopolysaccharidosis Ih/s, 607015 
IDS Mucopolysaccharidosis II, 309900 
IDUA Mucopolysaccharidosis Is, 607016
GALNS Mucopolysaccharidosis IVA, 253000 
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 
GSN-HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 
GNS Mucopolysaccharidosis type IIID, 252940 
HYAL1 Mucopolysaccharidosis type IX, 601492 
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 
GUSB Mucopolysaccharidosis VII, 253220 
FGFR3 Muenke syndrome, 602849
MLH1-MSH2 Muir-Torre syndrome,158320 
TRIM37 Mulibrey nanism,253250 
WNT4 Mullerian aplasia and hyperandrogenism,158330 
MAFB Multicentric carpotarsal osteolysis syndrome, 166300 
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 
PIGA Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 
MEN1 Multiple endocrine neoplasia 1, 131100 
RET Multiple endocrine neoplasia IIA, 171400
CDKN1B Multiple endocrine neoplasia, type IV, 610755
PRLR Multiple fibroadenomas of the breast, 615554 
B3GAT3 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 
NFU1 Multiple mitochondrial dysfunctions syndrome 1, 605711
BOLA3 Multiple mitochondrial dysfunctions syndrome 2, 614299
LIG4 Multiple myeloma, resistance to, 254500
IRF4 Multiple myeloma,254500 
CHRNA1-CHRND-CHRNG Multiple pterygium syndrome, lethal type, 253290 
TGFBR1 Multiple self-healing squamous epithelioma, susceptiblity to, 132800 
SUMF1 Multiple sulfatase deficiency, 272200 
DMP1 Multiple synostoses syndrome 2, 610017
GDF5 Multiple synostoses syndrome 2,610017 
FGF9 Multiple synostoses syndrome 3, 612961
NOG Multiple synostosis syndrome 1, 186500
ACTA2 Multisystemic smooth muscle dysfunction syndrome,613834 
PHKA1 Muscle glycogenosis, 300559 
MSTN Muscle hypertrophy 
LAMA2 Muscular dystrophy, congenital merosin-deficient, 607855
ITGA7 Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204
LAMA2 Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 
CHKB Muscular dystrophy, congenital, megaconial type, 602541 
MYOT Muscular dystrophy, limb-girdle, type 1A, 159000
DNAJB6 Muscular dystrophy, limb-girdle, type 1E, 603511
CAPN3 Muscular dystrophy, limb-girdle, type 2A, 253600
DYSF Muscular dystrophy, limb-girdle, type 2B, 253601
SGCG Muscular dystrophy, limb-girdle, type 2C, 253700
SGCA Muscular dystrophy, limb-girdle, type 2D, 608099
SGCB Muscular dystrophy, limb-girdle, type 2E, 604286
SGCD Muscular dystrophy, limb-girdle, type 2F, 601287 
TCAP Muscular dystrophy, limb-girdle, type 2G, 601954
TRIM32 Muscular dystrophy, limb-girdle, type 2H, 254110 
TTN Muscular dystrophy, limb-girdle, type 2J, 608807
ANO5 Muscular dystrophy, limb-girdle, type 2L, 611307 
TRAPPC11 Muscular dystrophy, limb-girdle, type 2S 
CAV3 Muscular dystrophy, limb-girdle, type IC, 607801
SEPN1 Muscular dystrophy, rigid spine, 1, 602771
LMNA Muscular dystrophy,congenital,613205 
LMNA Muscular dystrophy,limb-girdle,type 1B,159001 
PLEC Muscular dystrophy,limb-girdle,type 2Q,613723 
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
POMGNT1-POMGNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280
FKTN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800
FKRP Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153
LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154
ISPD Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 
TMEM5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 
B3GALNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11), 615181 
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A,14, 6135350 
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156
POMGNT1-POMGNT2 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151
FKRP Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612
FKTN Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152
LARGE Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 
POMT3 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 
POMT2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 
POMGNT1-POMGNT2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 
FKTN Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 
FKRP Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 
DAG1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
GMPPB Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 
CHRNG Myasthenia gravis, neonatal transient 
GFPT1 Myasthenia, congenital, with tubular aggregates 1, 610542 
AGRN Myasthenia, limb-girdle, familial, 254300
DOK7 Myasthenia, limb-girdle, familial, 254300 Fetal akinesia deformation sequence, 208150
SCN4A Myasthenic syndrome, acetazolamide-responsive, 614198
MUSK Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931
CHRNB1-CHRNE-RAPSN Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 
CHAT Myasthenic syndrome, congenital, associated with episodic apnea, 254210
RAPSN Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency, 608931
DPAGT1 Myasthenic syndrome, congenital, with tubular aggregates 2, 614750 
CHRNA1-CHRND-CHRNE Myasthenic syndrome, fast-channel congenital, 608930
CHRNA1-CHRNB1-CHRND-CHRNE Myasthenic syndrome, slow-channel congenital, 601462
IFNGR1-STAT1 Mycobacterial infection, atypical, familial disseminated, 209950
IRGM Mycobacterium tuberculosis, protection against, 607948 
ACSL6 Myelodysplastic syndrome 
IRF1 Myelodysplastic syndrome, preleukemic
SF3B1-TET2-ASXL1 Myelodysplastic syndrome, somatic, 614286
MPL Myelofibrosis with myeloid metaplasia, somatic, 254450 
SH2B3-JAK2 Myelofibrosis, somatic, 254450
IRF1-ACSL6 Myelogenous leukemia, acute
MPO Myeloperoxidase deficiency, 254600
PDGFRB Myeloproliferative disorder with eosinophilia, 131440 
SMAD4 Myhre syndrome, 139210 
AMPD1 Myoadenylate deaminase deficiency
F7 Myocardial infarction, decreased susceptibility to, 608446 
F13A1 Myocardial infarction, protection against, 608446
ACE Myocardial infarction, susceptibility to
APOE-ESR1-ITGB3-GCLC Myocardial infarction, susceptibility to, 608446
TBC1D24 Myoclonic epilepsy, infantile, familial, 605021
NOL3 Myoclonus, familial cortical, 614937 
NOTCH3 Myofibromatosis,  infantile 2, 615293
PDGFRB Myofibromatosis, infantile, 1, 228550 
LPIN1 Myoglobinuria, acute recurrent, autosomal recessive, 268200 
KCNQ2 Myokymia, 121200
TPM3 Myopathy congenital, with fiber-type disproportion, 255310 
CPT2 Myopathy due to CPT II deficiency, 255110 
MICU1 Myopathy with extrapyramidal signs 
ISCU Myopathy with lactic acidosis, hereditary, 255125
ACTA1 Myopathy, actin, congenital, with cores, 161800
ACTA1 Myopathy, actin, congenital, with excess of thin myofilaments, 161800
MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399
MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 
DNM2 Myopathy, centronuclear, 160150 
MYF6 Myopathy, centronuclear, 3, 614408
CCDC78 Myopathy, centronuclear, 4, 614807 
BIN1 Myopathy, centronuclear, autosomal recessive, 255200
CNTN1 Myopathy, congenital, Compton-North, 612540
ACTA1 Myopathy, congenital, with fiber-type disproportion 1, 255310 
SEPN1 Myopathy, congenital, with fiber-type disproportion, 255310 
MATR3 Myopathy, distal 2, 606070
FLNC Myopathy, distal, 4, 614065 
CAV3 Myopathy, distal, Tateyama type, 614321
DYSF Myopathy, distal, with anterior tibial onset, 606768
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076
CRYAB Myopathy, myofibrillar, 2, 608810
MYOT Myopathy, myofibrillar, 3, 609200
LDB3 Myopathy, myofibrillar, 4, 609452
FLNC Myopathy, myofibrillar, 5, 609524 
BAG3 Myopathy, myofibrillar, 6, 612954
CRYAB Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, 613869
MYH7 Myopathy, myosin storage, 608358
TTN Myopathy, proximal, with early respiratory muscle involvement 
FHL1 Myopathy, reducing body, X-linked, childhood-onset, 300718
FHL1 Myopathy, reducing body, X-linked, severe early-onset, 300717
MYOT Myopathy, spheroid body, 182920 
FHL1 Myopathy, X-linked, with postural muscle atrophy, 300696
ZNF644 Myopia 21, autosomal dominant, 614167 
PRIMPOL Myopia 22, autosomal dominant, 615420 (3) 
LRPAP1 Myopia 23, autosomal recessive, 615431
SCO2 Myopia 6, 608908 
LEPREL1 Myopia, high, with cataract and vitreoretinal degeneration, 614292 -3 
COL6A2 Myosclerosis, congenital, 255600 
SCN4A Myotonia congenita, atypical, acetazolamide-responsive, 608390
CLCN1 Myotonia congenita, dominant, 160800
CLCN1 Myotonia congenita, recessive, 255700
CLCN1 Myotonia levior, recessive 
DMPK Myotonic dystrophy 1, 160900
CNBP Myotonic dystrophy 2 
MTM1 Myotubular myopathy, X-linked, 310400 
PRKAR1A Myxoma,intracardiac,255960 
NAGS N-acetylglutamate synthase deficiency, 237310 
KRT14 Naegeli-Franceschetti-Jadassohn syndrome,161000 
PLCD1 Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 
FZD6 Nail disorder,nonsyndromic,congenital 10 (claw-shaped nails),614157 
LMX1B Nail-patella syndrome, 161200 
NHS Nance-Horan syndrome, 302350
MFRP Nanophthalmos 2, 609549 
HCRT Narcolepsy 1, 161400
MOG Narcolepsy 7, 614250
TP53 Nasopharyngeal carcinoma, 607107
TREM2-TYROBP Nasu-Hakola disease, 221770
STAC3 Native American myopathy, 255995 
MCM4 Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981
JUP Naxos disease,601214 
TPM3 Nemaline myopathy 1, autosomal dominant or recessive, 609284
NEB Nemaline myopathy 2, autosomal recessive, 256030
ACTA1 Nemaline myopathy 3, autosomal dominant or recessive, 161800
TPM2 Nemaline myopathy 4, autosomal dominant, 609285
TNNT1 Nemaline myopathy 5, Amish type, 605355
KBTBD13 Nemaline myopathy 6, autosomal dominant, 609273
CFL2 Nemaline myopathy 7, autosomal recessive, 610687
KLHL40 Nemaline myopathy 8, autosomal recessive, 615348
KLHL41 Nemaline myopathy 9, 615731 
AVPR2 Nephrogenic syndrome of inappropriate antidiuresis, 300539 
CLCN5 Nephrolithiasis,type I,310468 
SLC34A1 Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 
SLC9A3R1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287
NPHP1 Nephronophthisis 1, juvenile, 256100 
INVS Nephronophthisis 2, infantile, 602088
NPHP3 Nephronophthisis 3, 604387 
NPHP4 Nephronophthisis 4, 606966
GLIS2 Nephronophthisis 7, 611498 
TMEM67 Nephronophthisis 11,613550 
TTC21B Nephronophthisis 12, 613820 
WDR19 Nephronophthisis 13,614377 
ZNF423 Nephronophthisis 14, 614844 
CEP164 Nephronophthisis 15, 614845 
ANKS6 Nephronophthisis 16, 615382
XPNPEP3 Nephronophthisis-like nephropathy 1, 613159
CFHR5 Nephropathy due to CFHR5 deficiency, 614809
CD151 Nephropathy with pretibial epidermolysis bullosa and deafness,609057 
NPHS1 Nephrotic syndrome, type 1, 256300
NPHS2 Nephrotic syndrome, type 2, 600995
PLCE1 Nephrotic syndrome, type 3, 610725
WT1 Nephrotic syndrome, type 4,256370 
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 
PTPRO Nephrotic syndrome, type 6, 614196 
DGKE Nephrotic syndrome, type 7, 615008
ADCK4 Nephrotic syndrome type 9, 615573 
KCNQ4 ness, autosomal dominant 2A, 600101 
BANF1 Nestor-Guillermo progeria syndrome,614008 
SPINK5 Netherton syndrome, 256500
FUZ-VANGL2-VANGL1 Neural tube defects, 182940
MTR Neural tube defects, folate-sensitive, susceptibility to, 601634 
T-MTHFR Neural tube defects, susceptibility to, 182940
NALCN Neuroaxonal neurodegeneration, infantile, with facial dysmophism, 615419 
NME1 Neuroblastoma,256700 
KIF1B Neuroblastoma,susceptibility to,1,256700 
FOLR1 Neurodegeneration due to cerebral folate transport deficiency, 613068 
PANK2 Neurodegeneration with brain iron accumulation 1, 234200
PLA2G6 Neurodegeneration with brain iron accumulation 2B, 610217
FTL Neurodegeneration with brain iron accumulation 3, 606159 
C19orf12 Neurodegeneration with brain iron accumulation 4, 614298 
WDR45 Neurodegeneration with brain iron accululation 5, 300894 
COASY Neurodegeneration with brain iron accumulation 6, 615643 
EWSR1 Neuroepithelioma, 612219 
NF1 Neurofibromatosis, familial spinal, 162210
NF1 Neurofibromatosis, type 1, 162200
NF1 Neurofibromatosis-Noonan syndrome, 601321
MXI1 Neurofibrosarcoma Prostate cancer, susceptibility to, 176807
RYR1 Neuromuscular disease, congenital, with uniform type 1 fiber, 117000
HINT1 Neuromyotonia and axonal neuropathy, autosomal recessive, 137200
HSPB3 Neuronopathy, distal hereditary motor, type IIC, 613376 
FBXO38 Neuronopathy, distal hereditary motor, type IID, 65575 
REEP1 Neuronopathy, distal hereditary motor, type VB, 614751 
IGHMBP2 Neuronopathy, distal hereditary motor, type VI, 604320 
SLC5A7 Neuronopathy, distal hereditary motor, type VIIA, 158580
EGR2 Neuropathy, congenital hypomyelinating, 1, 605253 
HSPB8 Neuropathy, distal hereditary motor, type IIA, 158590 
HSPB1 Neuropathy, distal hereditary motor, type IIB, 608634 
BSCL2 Neuropathy, distal hereditary motor, type V, 600794 
DCTN1 Neuropathy, distal hereditary motor, type VIIB, 607641
SPTLC1 Neuropathy, hereditary sensory and autonomic, type IA, 162400 
SPTLC2 Neuropathy, hereditary sensory and autonomic, type IC, 613640 
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB, 613115
NGF Neuropathy, hereditary sensory and autonomic, type V, 608654
DST Neuropathy, hereditary sensory and autonomic, type VI, 614653
DNMT1 Neuropathy, hereditary sensory, type IE, 614116 
ATL3 Neuropathy, hereditary sensory, type IF, 615632 
KIF1A Neuropathy, hereditary sensory, type IIC, 614213
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 
MPZ Neuropathy,congenital hypomyelinating,605253 
GARS Neuropathy,distal hereditary motor,type VA,600794 
WNK1 Neuropathy,hereditary sensory and autonomic type II,201300 
SCN11A Neuropathy,hereditary sensory and autonomic,type VIII,615548 
ATL1 Neuropathy,hereditary sensory,type 1D,613708 
PMP22 Neuropathy,inflammatory demyelinating,139393 
PMP22 Neuropathy,recurrent,with pressure palsies,162500 
PNPLA2 Neutral lipid storage disease with myopathy, 610717 
FCGR3B Neutropenia, alloimmune neonatal
ELANE Neutropenia, cyclic, 162800
GFI1 Neutropenia, severe congenital 2, autosomal dominant, 613107
HAX1 Neutropenia, severe congenital 3, autosomal recessive, 610738 
G6PC3 Neutropenia, severe congenital 4, autosomal recessive, 612541 
VPS45 Neutropenia, severe congenital, 5, autosomal recessive, 615285 
RAC2 Neutrophil immunodeficiency syndrome, 608203
CSF3R Neutrophilia, hereditary, 162830
HRAS Nevus sebaceous, somatic, 162900
FGFR3 Nevus, epidermal, somatic, 162900
RLBP1 Newfoundland rod-cone dystrophy, 607476
ALG1 ngenital disorder of glycosylation, type Ik, 608540 
SMARCA2 Nicolaides-Baraitser syndrome, 601358 
CYP2A6 Nicotine addiction, protection from, 188890
CHRNA4 Nicotine addiction,susceptibility to,188890 
SLC6A3 Nicotine dependence, protection against, 188890 
SMPD1 Niemann-Pick disease, type A, 257200
SMPD1 Niemann-Pick disease, type B, 607616 
NPC1 Niemann-Pick disease, type C1, 257220 
NPC2 Niemann-pick disease, type C2, 607625 
NPC1 Niemann-Pick disease, type D, 257220 
NYX Night blindness, congenital stationary (complete), 1A, X-linked, 310500 
GRM6 Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 
TRPM1 Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 
SLC24A1 Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 
GPR179 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058
CACNA1F Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071
CABP4 Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427 
RHO Night blindness, congenital stationary, autosomal dominant 1, 610445
PDE6B Night blindness, congenital stationary, autosomal dominant 2, 163500
GNAT1 Night blindness, congenital stationary, autosomal dominant 3, 610444 
NBN Nijmegen breakage syndrome, 251260 
RAD50 Nijmegen breakage syndrome-like disorder,613078 
SART3 No OMIM disease ID 
GNE Nonaka myopathy, 605820 
GP1BA Nonarteritic anterior ischemic optic neuropathy, susceptibility to, 258660
EGFR Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980
BRAF Nonsmall cell lung cancer, somatic
IRF1 Nonsmall cell lung cancer, somatic, 211980 
EGFR Nonsmall cell lung cancer, susceptibility to, 211980 
PTPN11 Noonan syndrome 1, 163950
KRAS Noonan syndrome 3, 609942 
SOS1 Noonan syndrome 4, 610733 
RAF1 Noonan syndrome 5, 611553
NRAS Noonan syndrome 6, 613224
BRAF Noonan syndrome 7, 613706
RIT1 Noonan syndrome 8, 615355 
CBL Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 
SHOC2 Noonan-like syndrome with loose anagen hair, 607721 
A4GALT NOR polyagglutination syndrome, 111400 
NDP Norrie disease, 310600
LCAT Norum disease, 245900
DRD4 Novelty seeking personality, 601696 
NAA10 N-terminal acetyltransferase deficiency, 300855
FRMD7 Nystagmus 1, congenital, X-linked, 310700 
GPR143 Nystagmus 6,congenital,X-linked,300814 
FRMD7 Nystagmus, infantile periodic alternating, X-linked, 310700 
POMC Obesity adrenal insufficiency and red hair due to POMC deficiency,609734 
PCSK1 Obesity with impaired prohormone processing,60955 
MC4R Obesity, autosomal dominant, 601665
NTRK2 Obesity, hyperphagia, and developmental delay, 613886
NR0B2 Obesity, mild, early-onset, 601665
LEP Obesity, morbid, due to leptin deficiency, 614962
LEPR Obesity, morbid, due to leptin receptor deficiency, 614963
PPARG Obesity, resistance to 
PPARG-SIM1 Obesity, severe, 601665
ADRB2 Obesity, susceptibility to, 601665
POMC Obesity,early-onset,susceptibility to,601665 
AKR1C2 Obesity,hyperphagia and developmental delay 
ENPP1 Obesity,susceptibility to,601665 
PCSK1 Obesity,susceptibility to,BMIQ12,612362 
BDNF Obsessive-compulsive disorder, protection against, 164230
ATP7A Occipital horn syndrome, 304150
RP1L1 Occult macular dystrophy, 613587 
GPR143 Ocular albinism, type I, Nettleship-Falls type,300500 
HMX1 Oculoauricular syndrome, 612109 
SLC45A2 Oculocutaneous albinism type IV,606574 
GJA1 Oculodentodigital dysplasia,164200 
GJA1 Oculodentodigital dysplasia,autosomal recessive,257850 
PABPN1 Oculopharyngeal muscular dystrophy, 164300
ALPL Odontohypophosphatasia, 146300Hypophosphatasia, adult, 146300 
WNT10A Odontoonychodermal dysplasia,257980 
SAG Oguchi disease-1, 258100
GRK1 Oguchi disease-2, 613411 
MED12 Ohdo syndrome, X-linked, 300895 
CD4 OKT4 epitope deficiency, 613949
AXIN2 Oligodontia-colorectal cancer syndrome,608615 
TRPV3 Olmsted syndrome,614594 
GPC6 Omodysplasia 1, 258315
MID1 Opitz GBBB syndrome, type I, 300000 
MED12 Opitz-Kaveggia syndrome, 305450
INPPL1 Opsismodysplasia, 258480 
OPA1 Optic atrophy 1, 165500
OPA3 Optic atrophy 3 with cataract, 165300 
TMEM126A Optic atrophy-7, 612989 
SOX2 Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 
PAX6 Optic nerve hypoplasia, 165550
OFD1 Oral-facial-digital syndrome 1, 311200
MSX1 Orofacial cleft 5,608874 
IRF6 Orofacial cleft 6,608864 
PVRL1 Orofacial cleft 7,225060 
TP63 Orofacial cleft 8,129400 
SUMO1 Orofacial cleft 10, 613705 
BMP4 Orofacial cleft 11, 600625 
TCTN3 Orofaciodigital syndrome IV, 258860 
DDX59 Orofaciodigital syndrome V, 174300 
UMPS Orotic aciduria, 258900 
SLC6A2 Orthostatic intolerance 
GNAS Osseous heteroplasia, progressive, 166350
COL6A1 Ossification of the posterior longitudinal spinal ligaments, 602475 
GDF5-DMP1 Osteoarthritis 5,612400 
MATN3 Osteoarthritis susceptibility 2, 140600
COL2A1 Osteoarthritis with mild chondrodysplasia, 604864
ACAN Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800 
COL1A1 Osteogenesis imperfecta, type I, 166200
COL1A2-COL1A1 Osteogenesis imperfecta, type II,166210 
COL1A2-COL1A1 Osteogenesis imperfecta, type III,259420 
COL1A2-COL1A1 Osteogenesis imperfecta, type IV,166220 
IFITM5 Osteogenesis imperfecta, type V, 610967
SERPINF1 Osteogenesis imperfecta, type VI, 613982
CRTAP Osteogenesis imperfecta, type VII, 610682
LEPRE1 Osteogenesis imperfecta, type VIII, 610915
PPIB Osteogenesis imperfecta, type IX, 259440
SERPINH1 Osteogenesis imperfecta type X,613848 
FKBP10 Osteogenesis imperfecta type XI,610968 
SP7 Osteogenesis imperfecta type XII,613849 
TMEM38B Osteogenesis imperfecta, type XIV, 615066
WNT1 Osteogenesis imperfecta, type XV, 615220
FGFR1 Osteoglophonic dysplasia, 166250
TNFRSF11A Osteolysis, familial expansile, 174810
FGF23 Osteomalacia,tumor-induced 
AMER1 Osteopathia striata with cranial sclerosis 
SNX10 Osteopetrosis autosomal recessive 8,615085 
LRP5 Osteopetrosis, autosomal dominant 1, 607634 
CLCN7 Osteopetrosis, autosomal dominant 2, 166600 
TCIRG1 Osteopetrosis, autosomal recessive 1, 259700 
TNFSF11 Osteopetrosis,autosomal recessive 2,259710 
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 
CLCN7 Osteopetrosis, autosomal recessive 4, 611490
OSTM1 Osteopetrosis, autosomal recessive 5, 259720
PLEKHM1 Osteopetrosis, autosomal recessive 6, 611497
LEMD3 Osteopoikilosis,166700 
COL1A1-LRP5 Osteoporosis, 166710
WNT1 Osteoporosis, early-onset, susceptibility to, autosomal dominant, 615221 
COL1A2 Osteoporosis, postmenopausal,166710 
VDR Osteoporosis,involutional,166710 
LRP5 Osteoporosis-pseudoglioma syndrome, 259770
TP53 Osteosarcoma, 259500
CHEK2- RB1 Osteosarcoma, somatic, 259500
LRP5 Osteosclerosis, 144750
CTC1 Other Well-defined Immunodeficiency Syndromes; 
FLNA Otopalatodigital syndrome, type I, 311300
FLNA Otopalatodigital syndrome, type II, 304120
COL11A2-COL2A1 Otospondylomegaepiphyseal dysplasia, 215150
SLC4A1 Ovalocytosis
CTNNB1-PIK3CA-AKT1 Ovarian cancer, somatic, 167000 
RRAS2 Ovarian carcinoma
CDH1 Ovarian carcinoma, somatic, 167000
FSHR Ovarian dysgenesis 1, 233300
BMP15 Ovarian dysgenesis 2, 300510
PSMC3IP Ovarian dysgenesis 3, 614324
FSHR Ovarian hyperstimulation syndrome, 608115 
FSHR Ovarian response to FSH stimulation, 276400
EIF2B2-EIF2B4-EIF2B5 Ovarioleukodystrophy, 603896 
KRT16 Pachyonychia congenita 1,167200 
KRT17 Pachyonychia congenita 2,167210 
KRT6A Pachyonychia congenita 3,167200 
KRT6B Pachyonychia congenita Jackson-Lawler type,615726 
TNFRSF11B Paget disease of bone 5, juvenile-onset,239000 
SQSTM1 Paget disease of bone, 602080
GLI3 Pallister-Hall syndrome, 146510
RSPO1 Palmoplantar hyperkeratosis and true hermaphroditism,610644 
RSPO1 Palmoplantar hyperkeratosis with squamous cell carcinoma and sex reversal,610644 
GJA1 Palmoplantar keratoderma with congenital alopecia,104100 
AQP5 Palmoplantar keratoderma, Bothnian type,600231 
SERPINB7 Palmoplantar keratoderma, Nagashima type,615598 
KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse,615735 
KRT1 Palmoplantar keratoderma,epidermolytic,144200 
KRT1 Palmoplantar keratoderma,nonepidermolytic,600962 
TRPV3 Palmoplantar keratoderma,nonepidermolytic,focal 2,616400 
KRT16 Palmoplantar keratoderma,nonepidermolytic,focal,613000 
PDX1 Pancreatic agenesis 1,260370 
GATA6 Pancreatic agenesis and congenital heart defects, 600001
SMAD4 Pancreatic cancer
TP53 Pancreatic cancer, 260350
STK11 Pancreatic cancer, 260350 
BRCA2 Pancreatic cancer, 613347 
ACVR1B Pancreatic cancer, somatic
PALB2 Pancreatic cancer,susceptibility to 3,613348 
CDKN2A Pancreatic cancer/melanoma syndrome,606719 
KRAS Pancreatic carcinoma, somatic, 260350 
RBBP8 Pancreatic carcinoma,somatic 
PRSS1-SPINK1 Pancreatitis, hereditary, 167800
CFTR Pancreatitis, idiopathic, 
SOX3 Panhypopituitarism, X-linked, 312000 
CTSC Papillon-Lefevre syndrome, 245000 
PAX2 Papillorenal syndrome, 120330 
SDHB-SDHC-SDHD Paraganglioma and gastric stromal sarcoma, 606864
SDHD Paragangliomas 1, with or without deafness, 168000
SDHAF2 Paragangliomas 2, 601650
SDHC Paragangliomas 3, 605373
SDHA Paragangliomas 5, 614165 
SCN4A Paramyotonia congenita, 168300
TRPV4 Parastremmatic dwarfism,168400 
CDC73 Parathyroid adenoma with cystic changes, 145001 
MEN1 Parathyroid adenoma, somatic
CDC73 Parathyroid carcinoma, 608266 
MSX2 Parietal foramina 1, 168500
ALX4 Parietal foramina 2, 609597
MSX2 Parietal foramina with cleidocranial dysplasia, 168550 
RASA1 Parkes Weber syndrome, 608355
SNCA Parkinson disease 1, 168601 
SNCA Parkinson disease 4, 605543
PINK1 Parkinson disease 6, early onset, 605909
PARK7 Parkinson disease 7 autosomal recessive early-onset 
LRRK2 Parkinson disease 8, 607060
ATP13A2 Parkinson disease 9, 606693 
GIGYF2 Parkinson disease 11, 607688
HTRA2 Parkinson disease 13, 610297
PLA2G6 Parkinson disease 14, 612953 
FBXO7 Parkinson disease 15, autosomal recessive, 260300 
VPS35 Parkinson disease 17, 614203
DNAJC6 Parkinson disease 19, juvenile-onset, 615528 
SYNJ1 Parkinson disease 20, early-onset, 615530 
BMP1 Osteogenesis imperfecta, type XIII, 614856
GBA Parkinson disease, late-onset, susceptibility to, 16860 
MAPT-TBP Parkinson disease, susceptibility to, 168600 
SLC6A3 Parkinsonism -dystonia, infantile, 613135 
EIF4G1 Parkinsons disease 18, 614251 
SCN9A Paroxysmal extreme pain disorder,167400 
PIGA Paroxysmal nocturnal hemoglobinuria, somatic, 300818 
MR1 Paroxysmal nonkinesigenic dyskinesia 
CAV1 Partial lipodystrophy, congenital cataracts and neurodegeneration syndrome,606721 
ARX Partington syndrome, 309510
SOX10 PCWH syndrome, 609136 
CDSN Peeling skin syndrome 1,270300 
TGM5 Peeling skin syndrome acral type,609796 
LBR Pelger-Huet anomaly, 169400
PLP1 Pelizaeus-Merzbacher disease, 312080
SLC26A4 Pendred syndrome, 274600
TNFRSF1A Periodic fever, familial, 142680
HTR1A Periodic fever, menstrual cycle dependent, 614674
CTSC Periodontitis 1, juvenile, 170650 
MYH14 Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 
ARFGEF2 Periventricular heterotopia with microcephaly, 608097 
DIS3L2 Perlman syndrome, 267000
ACOX1 Peroxisomal acyl-CoA oxidase deficiency, 264470 
PEX1 Peroxisome biogenesis disorder 1A (Zellweger), 214100
PEX1 Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 
PEX5 Peroxisome biogenesis disorder 2A (Zellweger), 214110
PEX12 Peroxisome biogenesis disorder 3A (Zellweger), 614859
PEX6 Peroxisome biogenesis disorder 4A (Zellweger), 614862
PEX2 Peroxisome biogenesis disorder 5A (Zellweger), 614866
PEX10 Peroxisome biogenesis disorder 6A (Zellweger), 614870
PEX26 Peroxisome biogenesis disorder 7A (Zellweger), 614872
PEX16 Peroxisome biogenesis disorder 8A, (Zellweger), 614876
PEX3 Peroxisome biogenesis disorder 10A (Zellweger), 614882 
PEX13 Peroxisome biogenesis disorder 11A (Zellweger), 614883
PEX19 Peroxisome biogenesis disorder 12A (Zellweger), 614886 
PEX14 Peroxisome biogenesis disorder 13A (Zellweger), 614887 
PEX5 Peroxisome biogenesis disorder 2B, 202370 
PEX12 Peroxisome biogenesis disorder 3B, 266510 
PEX6 Peroxisome biogenesis disorder 4B, 614863 
PEX2 Peroxisome biogenesis disorder 5B, 614867 
PEX10 Peroxisome biogenesis disorder 6B, 614871 
PEX26 Peroxisome biogenesis disorder 7B, 614873 
PEX16 Peroxisome biogenesis disorder 8B, 614877 
PEX7 Peroxisome biogenesis disorder 9B, 614879 
PEX13 Peroxisome biogenesis disorder 11B, 614885 
PEX11B Peroxisome biogenesis disorder 14B, 614920 
HSD17B4 Perrault syndrome 1, 233400 
HARS2 Perrault syndrome 2, 614926 
CLPP Perrault syndrome 3, 614129 
LARS2 Perrault syndrome 4, 615300 
C10orf2 Perrault syndrome 5,616138 
DCTN1 Perry syndrome,168605 
AMH Persistent Mullerian duct syndrome, type I,261550 
AMHR2 Persistent Mullerian duct syndrome, type II,261550 
CARD11 Persistent polyclonal B-cell lymphocytosis, 606445
GATA6-NKX2-6 Persistent truncus arteriosus, 217095
CYP1B1-PITX2-PAX6 Peters anomaly, 604229 
B3GALTL Peters-plus syndrome, 261540 
STK11 Peutz-Jeghers syndrome, 175200 
FGFR1-FGFR2 Pfeiffer syndrome, 101600
SHANK3 Phelan-McDermid syndrome, 606232
PAH Phenylketonuria, 261600
SDHD-SDHB Pheochromocytoma, 171300
GDNF Pheochromocytoma, modifier of, 171300
KIF1B-VHL Pheochromocytoma,171300 
PHGDH Phosphoglycerate dehydrogenase deficiency, 601815 
PGK1 Phosphoglycerate kinase 1 deficiency, 300653
PLA2G4A Phospholipase A2, group IV A, deficiency of
PRPS1 Phosphoribosylpyrophosphate synthetase superactivity, 300661
PHKB Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750
PSAT1 Phosphoserine aminotransferase deficiency, 610992 
PSPH Phosphoserine phosphatase deficiency, 614023 
MAPT-PSEN1 Pick disease, 172700
KIT-SNAI3 Piebaldism,172800 
LAMB2 Pierson syndrome,609049 
PRKAR1A Pigmented nodular adrenocortical disease,primary,1,610489 
PDE11A Pigmented nodular adrenocortical disease, primary, 2, 610475
PDE8B Pigmented nodular adrenocortical disease, primary, 3, 614190
CRB1 Pigmented paravenous chorioretinal atrophy, 172870 
CTNNB1 Pilomatricoma, somatic, 132600 
CNTNAP2 Pitt-Hopkins like syndrome 1, 610042 
TCF4 Pitt-Hopkins syndrome, 610954 
NRXN1 Pitt-Hopkins-like syndrome 2, 614325
AIP Pituitary adenoma, ACTH-secreting, 219090 
AIP Pituitary adenoma, growth hormone-secreting, 102200
AIP Pituitary adenoma, prolactin-secreting, 600634
POU1F1 Pituitary hormone deficiency, combined, 1, 613038 
PROP1 Pituitary hormone deficiency, combined, 2 
LHX3 Pituitary hormone deficiency, combined, 3, 221750
LHX4 Pituitary hormone deficiency, combined, 4, 262700
HESX1 Pituitary hormone deficiency, combined, 5, 182230
PRKCA Pituitary tumor, invasive
CARD14 Pityriasis rubra pilaris,173200 
ITGB3 PL(A) platelet antigen Glanzmann thrombasthenia, 273800
SERPINE1 Plasminogen activator inhibitor-1 deficiency 
PLG Plasminogen deficiency, type I, 217090 
RUNX1 Platelet disorder, familial, with associated myeloid malignancy, 601399 
CD36 Platelet glycoprotein IV deficiency, 608404
PLA2G7 Platelet-activating factor acetylhydrolase deficiency, 614278 
COL2A1 Platyspondylic skeletal dysplasia, Torrance type, 151210
DICER1 Pleuropulmonary blastoma, 601200 
FLCN Pneumothorax,primary spontaneous,173600 
USB1 Poikiloderma with neutropenia, 604173 
FAM111B Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis,615704 
CECR1 Polyarteritis nodosa, childhood-onset,615688 
PKHD1 Polycystic kidney and hepatic disease, 263200
PKD2 Polycystic kidney disease 2, 613095
PKD1 Polycystic kidney disease, adult type I, 173900
PRKCSH-SEC63 Polycystic liver disease, 174050
JAK2 Polycythemia vera,263300 
GLI3 Polydactyly, postaxial, types A1 and B, 174200
LMBR1 Polydactyly, preaxial type II, 174500
GLI3 Polydactyly, preaxial, type IV, 174700
GBE1 Polyglucosan body disease, adult form, 263570 
STRADA Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087
TUBA8 Polymicrogyria with optic nerve hypoplasia, 613180 
RTTN Polymicrogyria with seizures, 614833
GPR56 Polymicrogyria, bilateral frontoparietal, 606854 
TUBB2B Polymicrogyria, symmetric or asymmetric, 610031 
FIG4 Polymicrogyria,bilateral temporooccipital,612691 
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 
BMPR1A Polyposis syndrome, hereditary mixed, 2, 610069
BMPR1A-SMAD4 Polyposis, juvenile intestinal, 174900
VRK1 Pontocerebellar hypoplasia type 1A, 607596 
EXOSC3 Pontocerebellar hypoplasia, type 1B, 614678 
TSEN54 Pontocerebellar hypoplasia type 2A, 277470 
TSEN2 Pontocerebellar hypoplasia type 2B, 612389
TSEN34 Pontocerebellar hypoplasia type 2C, 612390
SEPSECS Pontocerebellar hypoplasia type 2D, 613811 
TSEN54 Pontocerebellar hypoplasia type 4, 225753 
RARS2 Pontocerebellar hypoplasia, type 6, 611523 
CHMP1A Pontocerebellar hypoplasia, type 8, 614961
IRF6 Popliteal pterygium syndrome 1,119500 
RIPK4 Popliteal pterygium syndrome 2, lethal type,263650 
COL4A1 Porencephaly 1, 175780
COL4A2 Porencephaly 2, 614483
MVK Porokeratosis 3, disseminated superficial actinic, 175900 
UROD Porphyria cutanea tarda, 176100 
HFE Porphyria cutanea tarda, susceptibility to, 176100
PPOX Porphyria variegata, 176200 
HFE Porphyria variegata, susceptibility to, 176200
ALAD Porphyria, acute hepatic, 612740 
HMBS Porphyria, acute intermittent, 176000 
HMBS Porphyria, acute intermittent, nonerythroid variant, 176000 
UROS Porphyria, congenital erythropoietic, 263700 
UROD Porphyria, hepatoerythropoietic, 176100 
NDN-SNRPN Prader-Willi syndrome, 176270
MAGEL2 Prader-Willi-like syndrome, 615547 
BRCA2 Pre-B-cell acute lymphoblastic leukemia
MKRN3 Precocious puberty, central, 2, 615346
KISS1R Precocious puberty,central,1,176400 
LHCGR Precocious puberty,male,176410 
EPHX1 Preeclampsia, susceptibility to, 189800 
STOX1 Preeclampsia/eclampsia 4, 609404
CORIN Preeclampsia/eclampsia 5, 614595
F2 Pregnancy loss, recurrent, susceptibility to, 2, 614390 
SYCP3 Pregnancy loss, susceptibility to 
BUB1B Premature chromatid separation trait, 176430 
FMR1 Premature ovarian failure 1, 311360 
POF1B Premature ovarian failure 2B 
FOXL2 Premature ovarian failure 3, 608996 
BMP15 Premature ovarian failure 4, 300510 
NOBOX Premature ovarian failure 5, 611548
FIGLA Premature ovarian failure 6, 612310
NR5A1 Premature ovarian failure 7,612964 
DIAPH2 Premature ovarian failure, 300511
SERPINH1 Preterm premature rupture of the membranes, susceptibility to,610504 
NDUFA10 previous assignment to chr. 12 Leigh syndrome, 256000
ALS2 Primary lateral sclerosis, juvenile, 606353
PRNP Prion disease with protracted course, 606688
SLC25A4 Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 Mitochondrial DNA 
POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131
DNA2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6, 615156
C10orf2 Progressive external ophthalmoplegia with mitochondrial DNA depletions, autosomal dominant,609286 
POLG Progressive external ophthalmoplegia, autosomal dominant, 157640 
POLG Progressive external ophthalmoplegia, autosomal recessive, 258450 
TRPM4 Progressive familial heart block, type IB, 604559
PEPD Prolidase deficiency, 170100 
FLVCR2 Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790
GNAS Prolonged bleeding time, brachydactyly and mental retardation
CFP Properdin deficiency,X-linked, 312060 
PCCA-PCCB Propionicacidemia, 606054 
RNASEL Prostate cancer 1, 601518
BRCA2 Prostate cancer, 176807
CHEK2 Prostate cancer, familial, susceptibility to, 176807
MSR1 Prostate cancer, hereditary, 176807
ELAC2 Prostate cancer, hereditary, 2, susceptibility to, 614731
EPHB2 Prostate cancer, progression and metastasis of, 603688
PTEN-KLF6-MAD1L1 Prostate cancer, somatic, 176807
CDH1-AR Prostate cancer, susceptibility to, 176807 
CLCN5 Proteinuria,low molecular weight,with hypercalciuric nephrocalcinosis,308990 
AKT1 Proteus syndrome, somatic,176920 
FECH Protoporphyria, erythropoietic, autosomal recessive, 177000 
ALAS2 Protoporphyria, erythropoietic, X-linked, 300752 
ARX Proud syndrome, 300004
COMP Pseudoachondroplasia, 177170
HSD17B3 Pseudohermaphroditism, male, with gynecomastia, 264300 
NR3C2 Pseudohypoaldosteronism type I, autosomal dominant, 177735
SCNN1A-SCNN1G-SCNN1B Pseudohypoaldosteronism, type I, 264350 
WNK4 Pseudohypoaldosteronism, type IIB, 614491
WNK1 Pseudohypoaldosteronism, type IIC, 614492 
KLHL3 Pseudohypoaldosteronism, type IID, 614495
CUL3 Pseudohypoaldosteronism, type IIE, 614496
GNAS Pseudohypoparathyroidism Ia, 103580
GNAS Pseudohypoparathyroidism Ib, 603233
GNAS Pseudohypoparathyroidism Ic, 612462
STX16 Pseudohypoparathyroidism, type IB, 603233
GNAS Pseudopseudohypoparathyroidism, 612463
ABCC6 Pseudoxanthoma elasticum, forme fruste,177850 
ABCC6 Pseudoxanthoma elasticum,264800 
GGCX Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency,610842 
CARD14 Psoriasis 2,602723 
IL36RN Psoriasis, generalized pustular, 614204
SNIP1 Psychomotor retardation, epilepsy and craniofacial dysmorphism, 614501 
SLC34A2 Pulmonary alveolar microlithiasis, 265100
SERPINA1-HMOX1 Pulmonary disease, chronic obstructive, susceptibility to, 606963 
SMAD9 Pulmonary hypertension primary 2 
BMPR2 Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 
CPS1 Pulmonary hypertension, neonatal, susceptibility to, 615371
CAV1 Pulmonary hypertension, primary, 3,615343 
KCNK3 Pulmonary hypertension, primary, 4, 615344
BMPR2 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600  
EIF2AK4 Pulmonary venoocclusive disease 2, 234810 
BMPR2 Pulmonary venoocclusive disease, 265450 
ITGB3 Purpura, posttransfusion
CTSK Pycnodysostosis, 265800 
MYD88 Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260
PSTPIP1 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416
PNPO Pyridoxamine 5-phosphate oxidase deficiency, 610090 
SPTA1 Pyropoikilocytosis, 266140
PC Pyruvate carboxylase deficiency, 266150 
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency, 312170
PDHB Pyruvate dehydrogenase E1-beta deficiency, 614111
DLAT Pyruvate dehydrogenase E2 deficiency, 245348
LIAS Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462
PDP1 Pyruvate dehydrogenase phosphatase deficiency, 608782 
PKLR Pyruvate kinase deficiency, 266200 
PLAU Quebec platelet disorder, 601709 
EDN1 Question mark ears,isolated,612798 
NHEJ1 radiation, 611291
HOXA11 Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432 -3 
FAM20C Raine syndrome,259775 
TP63 Rapp-Hodgkin syndrome,129400 
RNF212 Recombination rate QTL 1, 612042
PHYH Refsum disease, 266500 
FLCN Renal carcinoma,chromphobe,somatic,144700 
HNF1A-RNF139 Renal cell carcinoma, 144700
OGG1 Renal cell carcinoma, clear cell, somatic, 144700
TFE3 Renal cell carcinoma, papillary, 1, 300854
PRCC Renal cell carcinoma, papillary, 605074
MET Renal cell carcinoma, papillary, familial and somatic, 605074 
HNF1B Renal cell carcinoma,144700 
VHL Renal cell carcinoma,somatic,144700 
HNF1B Renal cysts and diabetes syndrome, 137920 
SLC5A2 Renal glucosuria, 233100
ITGA8 Renal hypodysplasia/aplasia 1, 191830 
PAX2 Renal hypoplasia, isolated, 191830 
ATP6V1B1 Renal tubular acidosis with deafness, 267300 
ATP6V0A4 Renal tubular acidosis, distal, autosomal recessive, 602722 
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities, 604278
SLC4A1 Renal tubular acidosis,distal,AD,179800 
SLC4A1 Renal tubular acidosis,distal,AR,611590 
AGT-REN Renal tubular dysgenesis, 267430 
NPHP3 Renal-hepatic-pancreatic dysplasia 1,208540 
PQBP1 Renpenning syndrome, 309500 
G6PD Resistance to malaria due to G6PD deficiency, 611162 
LMNA-ZMPSTE24 Restrictive dermopathy,lethal,275210 
HEPACAM retardation, 613926 
AK2 Reticular dysgenesis, 267500 
ADAM10 Reticulate acropigmentation of Kitamura,615537 
IGFBP7 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224
PDE6H Retinal cone dystrophy 3, 610024
KCNV2 Retinal cone dystrophy 3B, 610356 
CACNA2D4 Retinal cone dystrophy 4, 610478 
NRL Retinal degeneration, autosomal recessive, clumped pigment type 
C1QTNF5 Retinal degeneration, late-onset, autosomal dominant, 605670 
PDZD7 Retinal disease in Usher syndrome type IIA, modifier of, 276901
ABCA4 Retinal dystrophy, early-onset severe, 248200 
LRAT Retinal dystrophy, early-onset severe, 613341 
RP1 Retinitis pigmentosa 1, 180100
RP2 Retinitis pigmentosa 2, 312600 
RPGR Retinitis pigmentosa 3, 300029
RHO Retinitis pigmentosa 4, autosomal dominant or recessive, 613731
PRPH2 Retinitis pigmentosa 7, 608133
ROM1 Retinitis pigmentosa 7, digenic, 608133 
IMPDH1 Retinitis pigmentosa 10, 180105 
PRPF31 Retinitis pigmentosa 11, 600138 
PRPF8 Retinitis pigmentosa 13, 600059
TULP1 Retinitis pigmentosa 14, 600132
CA4 Retinitis pigmentosa 17, 600852 
PRPF3 Retinitis pigmentosa 18, 601414 
ABCA4 Retinitis pigmentosa 19, 601718
RPE65 Retinitis pigmentosa 20, 613794 
OFD1 Retinitis pigmentosa 23,300424 
EYS Retinitis pigmentosa 25, 602772 
NRL Retinitis pigmentosa 27, 613750
FAM161A Retinitis pigmentosa 28, 606068 
FSCN2 Retinitis pigmentosa 30, 607921
TOPORS Retinitis pigmentosa 31, 609923 
SNRNP200 Retinitis pigmentosa 33, 610359 
SEMA4A Retinitis pigmentosa 35, 610282
PRCD Retinitis pigmentosa 36, 610599 
MERTK Retinitis pigmentosa 38, 613862 
PROM1 Retinitis pigmentosa 41, 612095
KLHL7 Retinitis pigmentosa 42, 612943 
PDE6A Retinitis pigmentosa 43, 613810 
RGR Retinitis pigmentosa 44, 613769 
CNGB1 Retinitis pigmentosa 45, 613767 
IDH3B Retinitis pigmentosa 46, 612572 
SAG Retinitis pigmentosa 47, 613758 
GUCA1B Retinitis pigmentosa 48, 613827 
CNGA1 Retinitis pigmentosa 49, 613756 
TTC8 Retinitis pigmentosa 51,613464 
C2orf71 Retinitis pigmentosa 54, 613428 
ARL6 Retinitis pigmentosa 55, 613575 
IMPG2 Retinitis pigmentosa 56, 613581
PDE6G Retinitis pigmentosa 57, 613582 
ZNF513 Retinitis pigmentosa 58, 613617 
DHDDS Retinitis pigmentosa 59, 613861 
PRPF6 Retinitis pigmentosa 60, 613983 
CLRN1 Retinitis pigmentosa 61, 614180 
MAK Retinitis pigmentosa 62, 614181 
C8orf37 Retinitis pigmentosa 64, 614500
CDHR1 Retinitis pigmentosa 65, 613660 
SLC7A14 Retinitis pigmentosa 68, 615725 
ARL2BP Retinitis pigmentosa with or without situs inversus, 615434 
BEST1 Retinitis pigmentosa, concentric, 613194 
PRPH2 Retinitis pigmentosa, digenic, 608133
AIPL1 Retinitis pigmentosa, juvenile, 604393
LRAT Retinitis pigmentosa, juvenile, 613341 
SPATA7 Retinitis pigmentosa, juvenile, autosomal recessive, 604232 
RPGR Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455
CRB1 Retinitis pigmentosa-12, autosomal recessive, 600105
PDE6B Retinitis pigmentosa-40, 613801 
BEST1 Retinitis pigmentosa-50, 613194
PRPH2-RLBP1 Retinitis punctata albescens, 136880
RHO Retinitis punctata albescens, 136880 
RB1 Retinoblastoma, 180200
RBP4 Retinol dystrophy iris coloboma and comedogenic acne syndrome,615147 
FZD4 Retinopathy of prematurity, 133780 
RS1 Retinoschisis, 312700 
MECP2 Rett syndrome, 312750
FOXG1 Rett syndrome, congenital variant, 613454 
MECP2 Rett syndrome, preserved speech variant, 312750
LBR Reynolds syndrome, 613471 
SMARCB1 Rhabdoid predisposition syndrome 1, 609322
SMARCA4 Rhabdoid tumor predisposition syndrome 2, 613325
SMARCB1 Rhabdoid tumors, somatic, 609322
CYP2C8 Rhabdomyolysis, cerivastatin-induced
PAX3 Rhabdomyosarcoma 2,alveolar,268220 
FOXO1 Rhabdomyosarcoma alveolar 
CIITA Rheumatoid arthritis, susceptibility to, 180300 
PEX7 Rhizomelic chondrodysplasia punctata, type 1, 215100
RHAG Rh-mod syndrome 
RHCE Rh-null disease, amorph type 
SLC52A1 Riboflavin deficiency, 615026 
RPIA Ribose 5-phosphate isomerase deficiency, 608611 
CYP2R1 Rickets due to defect in vitamin D 25-hydroxylation, 600081 
VDR Rickets,vitamin D-resistant,type IIA,277440 
RNF168 RIDDLE syndrome, 611943
FOXC1 Rieger or Axenfeld anomalies, 602482
GDF1 Right atrial isomerism, 208530 
BRAT1 Rigidity and multifocal seizure syndrome, lethal neonatal, 614498
PITX2 Ring dermoid of cornea,180550 
CAV3 Rippling muscle disease, 606072
ESCO2 Roberts syndrome, 268300
EIF4A3 Robin sequence with cleft mandible and limb anomalies, 268305 
WNT5A Robinow syndrome autosomal dominant,180700 
ROR2 Robinow syndrome, autosomal recessive,268310 
TWIST1 Robinow-Sorauf syndrome, 180750 
SRPX2 Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 
RECQL4 Rothmund-Thomson syndrome, 268400
MPZ-PMP22 Roussy-Levy syndrome,180800 
EP300 Rubinstein-Taybi syndrome 2, 613684 
CREBBP Rubinstein-Taybi syndrome, 180849 
UNC93B1 s simplex encephalitis, susceptibility to, 1, 610551
AASS Saccharopinuria, 268700 
TWIST1 Saethre-Chotzen syndrome with eyelid anomalies, 101400 
FGFR2 Saethre-Chotzen syndrome, 101400
TWIST1 Saethre-Chotzen syndrome, 101400 
SLC17A5 Salla disease, 604369
HEXB Sandhoff disease, infantile, juvenile, and adult forms, 268800 
KAT6B SBBYSS syndrome, 603736
ESCO2 SC phocomelia syndrome, 269000 
KCTD1 Scalp-ear-nipple syndrome, 181270
FGFR2 Scaphocephaly and Axenfeld-Rieger anomaly
FGFR2 Scaphocephaly, maxillary retrusion, and mental retardation, 609579
FHL1 Scapuloperoneal myopathy, X-linked dominant, 300695
TRPV4 Scapuloperoneal spinal muscular atrophy, 181405 
MYH7 Scapuloperoneal syndrome, myopathic type, 181430
SMARCAL1 Schimke immunoosseous dysplasia, 242900
HRAS Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 
NAGA Schindler disease, type I, 609241
NAGA Schindler disease, type III, 609241 
SETBP1 Schinzel-Giedion midface retraction syndrome, 269150 
EMX2-SHH Schizencephaly, 269160 
SIX3 Schizensephaly, 269160 
SHANK3 Schizophrenia 15, 613950 
AKT1 Schizophrenia, susceptibility to,181500 
PRODH Schizophrenia, susceptibility to, 4, 600850 
NRXN1 Schizophrenia, susceptibility to, 17, 614332 
MTHFR Schizophrenia, susceptibility to, 181500 
DTNBP1 Schizophrenia,181500 
SLC35D1 Schneckenbecken dysplasia, 269250
WNT10A Schopf-Schulz-Passarge syndrome,224750 
NF2 Schwannomatosis, 162091 
HSPG2 Schwartz-Jampel syndrome, type 1, 255800
JAK3 SCID, autosomal recessive, T-negative/B-positive type, 600802
LRP4 Sclerosteosis 2, 614305 
SOST Sclerosteosis, 269500
CHD7 Scoliosis, idiopathic 3, 608765
ANO6 Scott syndrome, 262890
LEF1 Sebaceous tumors, somatic
MYH9 Sebastian syndrome,605249 
ZNF750 Seborrhea-like dermatitis with psoriasiform elements,610227 
ATR Seckel syndrome 1, 210600
RBBP8 Seckel syndrome 2,606744 
CENPJ Seckel syndrome 4, 613676 
CEP153 Seckel syndrome 5, 613823 
NIN Seckel syndrome 7, 614851
COL2A1 SED congenita, 183900
TRPV4 SED, Maroteaux type,184095 
COL2A1 SED, Namaqualand type
TH Segawa syndrome, recessive, 605407 
SCN2A Seizures, benign familial infantile, 3, 607745
KCNQ2 Seizures, benign neonatal, 1, 121200
KCNQ3 Seizures, benign neonatal, type 2, 121201
PRRT2 Seizures,benign familial infantile, 2,605751 
ZAP70 Selective T-cell defect, 269840
BSND Sen sorineural deafness with mild renal dysfunction, 602522 
AGL Sengers syndrome, 212350 
IQCB1 Senior-Loken syndrome 5, 609254
CEP290 Senior-Loken syndrome 6,610189 
SDCCAG8 Senior-Loken syndrome 7, 613615
WDR19 Senior-Loken syndrome 8,616307 
NPHP1 Senior-Loken syndrome-1,266900 
HESX1 Septooptic dysplasia, 182230
WNT4 SERKAL syndrome, 611812 
KCNJ10 SESAME syndrome, 612780
ADA Severe combined immunodeficiency due to ADA deficiency, 102700 
NHEJ1 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing 
LIG4 Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450 
DCLRE1C Severe combined immunodeficiency, Athabascan type, 602450
RAG1-RAG2 Severe combined immunodeficiency, B cell-negative, 601457
CD3D-CD3E Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971
IL2RG Severe combined immunodeficiency, X-linked, 300400
KRAS SFM syndrome, somatic mosaic, 163200 
COG6 Shaheen syndrome, 615328 
KCNH2 Short QT syndrome-1, 609620 
KCNQ1 Short QT syndrome-2, 609621
KCNJ2 Short QT syndrome-3, 609622
NEK1 Short rib-polydactyly syndrome, type IIA, 263520
GHR-GHSR Short stature, 604271
GSC Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 
SHOX Short stature, idiopathic familial, 300582
POC1A Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 
NBAS Short stature,optic nerve atrophy and Pelger-Huet anomaly,614800 
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 
TTC21B Short-rib thoracic dysplasia 4 with or without polydactyly,613819 
WDR19 Short-rib thoracic dysplasia 5 with or without polydactyly,614376 
WDR35 Short-rib thoracic dysplasia 7 with or without polydactyly,614091 
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 
IFT172 Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 
WDR34 Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 
SKI Shprintzen-Goldberg syndrome, 182212 
SBDS Shwachman-Bodian-Diamond syndrome, 260400
SLC17A5 Sialic acid storage disorder, infantile, 269920 
NEU1 Sialidosis, type I, 256550
NEU1 Sialidosis, type II, 256550 
GNE Sialuria, 269921 
SCN5A Sick sinus syndrome 1, 608567
HCN4 Sick sinus syndrome 2, 163800
MYH6 Sick sinus syndrome 3, 614090 
HBB Sickle cell anemia, 603903
BSCL2 Silver spastic paraplegia syndrome, 270685
OFD1 Simpson-Golabi-Behmel syndrome type 2,300209 
GPC3 Simpson-Golabi-Behmel syndrome, type 1, 312870
SHH Single median maxillary central incisor, 147250
CACNA1D Sinoatrial node dysfunction and deafness, 614896 
ABCG5-ABCG8 Sitosterolemia, 210250 
ALDH3A2 Sjogren-Larsson syndrome, 270200 
ZBTB16 Skeletal defects, genital hypoplasia, and mental retardation, 612447 
DSP Skin fragility-woolly hair syndrome,607655 
HERC2 Skin/hair/eye pigmentation 1, blond/brown hair, 227220 
HERC2 Skin/hair/eye pigmentation 1, blue/nonblue eyes, 227220 
OCA2 Skin/hair/eye pigmentation 1,227220 
TYR Skin/hair/eye pigmentation 3, light/dark/freckling skin, 601800 
SLC24A5 skin/hair/eye pigmentation 4,113750 
SLC45A2 skin/hair/eye pigmentation 5,227240 
TYRP1 Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair), 612271 
IRF4 Skin/hair/eye pigmentation, variation in,8,611724 
ARHGEF10 Slowed nerve conduction velocity, AD, 608236
RB1 Small cell cancer of the lung, somatic, 182280
SCN9A Small fiber neuropathy,133020 
TBX4 Small patella syndrome, 147891
COL2A1 SMED Strudwick type, 184250
DHCR7 Smith-Lemli-Opitz syndrome, 270400 
RAI1 Smith-Magenis syndrome, 182290 
RAB33B Smith-McCort dysplasia 2 
DYM Smith-McCort dysplasia, 607326 
CECR1 Sneddon syndrome,182410 
KCNJ13 Snowflake vitreoretinal degeneration, 193230 
TRPV4 Sodium serum level QTL 1,613508 
SSTR5 Somatostatin analog, resistance to, 102200
TIMP3 Sorsby fundus dystrophy, 136900 
NSD1 Sotos syndrome 1, 117550
NFIX Sotos syndrome 2, 614753 
KIF1C Spastic ataxia 2,autosomal recessive, 611302 
MARS2 Spastic ataxia 3, autosomal recessive, 611390 
SACS Spastic ataxia, Charlevoix-Saguenay type, 270550 
ALS2 Spastic paralysis, infantile onset ascending, 607225 
PLP1 Spastic paraplegia 2, X-linked, 312920 
ATL1 Spastic paraplegia 3A, autosomal dominant, 182600 
SPAST Spastic paraplegia 4, autosomal dominant, 182601 
CYP7B1 Spastic paraplegia 5A, autosomal recessive, 270800 
NIPA1 Spastic paraplegia 6, autosomal dominant, 600363 
SPG7 Spastic paraplegia 7, autosomal recessive, 607259 
KIAA0196 Spastic paraplegia 8, autosomal dominant, 603563 
KIF5A Spastic paraplegia 10, autosomal dominant, 604187 
SPG11 Spastic paraplegia 11, autosomal recessive, 604360 
RTN2 Spastic paraplegia 12, autosomal dominant, 604805 
HSPD1 Spastic paraplegia 13, autosomal dominant, 605280
ZFYVE26 Spastic paraplegia 15, autosomal recessive, 270700 
ERLIN2 Spastic paraplegia 18, autosomal recessive, 611225 
B4GALNT1 Spastic paraplegia 26, autosomal recessive, 609195 
DDHD1 Spastic paraplegia 28, autosomal recessive,609340 
KIF1A Spastic paraplegia 30, autosomal recessive, 610357
REEP1 Spastic paraplegia 31, autosomal dominant, 610250
ZFYVE27 Spastic paraplegia 33, autosomal dominant, 610244 
FA2H Spastic paraplegia 35, autosomal recessive, 612319 
PNPLA6 Spastic paraplegia 39, autosomal recessive, 612020 
SLC33A1 Spastic paraplegia 42, autosomal dominant, 612539
C19orf12 Spastic paraplegia 43, autosomal recessive, 615043 
GJC2 Spastic paraplegia 44, autosomal recessive, 613206
NT5C2 Spastic paraplegia 45, 613162 
GBA2 Spastic paraplegia 46, autosomal recessive 
AP4B1 Spastic paraplegia 47, autosomal recessive, 614066 
AP5Z1 Spastic paraplegia 48, autosomal recessive, 613647 
TECPR2 Spastic paraplegia 49, autosomal recessive, 615031 
AP4M1 Spastic paraplegia 50, autosomal recessive, 612936 
AP4E1 Spastic paraplegia 51, autosomal recessive, 613744 
AP4S1 Spastic paraplegia 52, autosomal recessive, 614067 
VPS37A Spastic paraplegia 53, autosomal recessive, 614898 
DDHD2 Spastic paraplegia 54, autosomal recessive, 615033 
C12orf65 Spastic paraplegia 55,autosomal recessive, 615035 
CYP2U1 Spastic paraplegia 56, autosomal recessive, 615030 
TFG Spastic paraplegia 57,autosomal recessive,615658 
ENTPD1 Spastic paraplegia 64, 615683 
CEBPE Specific granule deficiency, 245480
FOXP2 Speech-language disorder-1, 602081 
FGFR3 Spermatocytic seminoma, somatic, 273300 
SLC26A8 Spermatogenic failure 3, 606766
SYCP3 Spermatogenic failure 4, 270960
AURKC Spermatogenic failure 5 
SPATA16 Spermatogenic failure 6, 102530
CATSPER1 Spermatogenic failure 7, 612997
NR5A1 Spermatogenic failure 8,613957 
DPY19L2 Spermatogenic failure 9, 613958
12-Sep Spermatogenic failure 10 
KLHL10 Spermatogenic failure 11, 615081
NANOS1 Spermatogenic failure 12, 615413
USP9Y Spermatogenic failure, Y-linked, 2, 415000
EPB42 Spherocytosis, hereditary, type 5, 612690
ANK1 Spherocytosis, type 1, 182900
SPTB Spherocytosis, type 2
SPTA1 Spherocytosis, type 3, 270970 
SLC4A1 Spherocytosis,type 4,612653 
AR Spinal and bulbar muscular atrophy of Kennedy,313200 
ASAH1 Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 
PLEKHG5 Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 
DNAJB2 Spinal muscular atrophy, distal, autosomal recessive,5, 614881 
TRPV4 Spinal muscular atrophy, distal, congenital nonprogressive, 600175 
ATP7A Spinal muscular atrophy, distal, X-linked 3, 300489 
VAPB Spinal muscular atrophy, late-onset, Finkel type, 182980 
BICD2 Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3 
DYNC1H1 Spinal muscular atrophy, lower extremity-predominant, AD, 158600 
UBA1 Spinal muscular atrophy, X-linked 2, infantile, 301830
SMN1 Spinal muscular atrophy-1, 253300 
SMN1 Spinal muscular atrophy-2, 253550 
SMN1 Spinal muscular atrophy-3, 253400 
SMN1 Spinal muscular atrophy-4, 271150 
ATXN1 Spinocerebellar ataxia 1, 164400
ATXN2 Spinocerebellar ataxia 2, 183090
SPTBN2 Spinocerebellar ataxia 5, 600224
CACNA1A Spinocerebellar ataxia 6,183086 
ATXN7 Spinocerebellar ataxia 7, 164500
ATXN10 Spinocerebellar ataxia 10, 603516 
TTBK2 Spinocerebellar ataxia 11, 604432 
PPP2R2B Spinocerebellar ataxia 12, 604326
KCNC3 Spinocerebellar ataxia 13, 605259 
PRKCG Spinocerebellar ataxia 14, 605361 
ITPR1 Spinocerebellar ataxia 15, 606658 
TBP Spinocerebellar ataxia 17, 607136
KCND3 Spinocerebellar ataxia 19, 607346
PDYN Spinocerebellar ataxia 23, 610245 
FGF14 Spinocerebellar ataxia 27, 609307 
AFG3L2 Spinocerebellar ataxia 28, 610246 
ITPR1 Spinocerebellar ataxia 29, congenital nonprogressive, 117360 
BEAN1 Spinocerebellar ataxia 31 
TGM6 Spinocerebellar ataxia 35, 613908 
NOP56 Spinocerebellar ataxia 36, 614153
ZNF592 Spinocerebellar ataxia, autosomal recessive 5, 606937 
SYNE1 Spinocerebellar ataxia, autosomal recessive 8, 610743 
ANO10 Spinocerebellar ataxia, autosomal recessive 10, 613728 
SYT14 Spinocerebellar ataxia, autosomal recessive 11, 614229 
WWOX Spinocerebellar ataxia, autosomal recessive, 12, 614322 
GRM1 Spinocerebellar ataxia, autosomal recessive 13, 614831 
SPTBN2 Spinocerebellar ataxia, autosomal recessive 14, 615386 
TDP1 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 
HFM1 Split hand/foot malformation 1 (4) 
TP63 Split-hand/foot malformation 4,605289 
WNT10B Split-hand/foot malformation 6,225300 
FLNB Spondylocarpotarsal synostosis syndrome, 272460
SLC39A13 Spondylocheirodysplasia 
DLL3 Spondylocostal dysostosis, autosomal recessive 1, 277300
MESP2 Spondylocostal dysostosis, autosomal recessive 2, 608681
LFNG Spondylocostal dysostosis, autosomal recessive 3, 609813 
HES7 Spondylocostal dysostosis, autosomal recessive 4, 613686
ACP5 Spondyloenchondrodysplasia with immune dysregulation, 607944
B3GALT6 Spondyloepimetaphyseal dysplasia with joint laxity, type 1,with or without fractures,271640 
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546
MATN3 Spondyloepimetaphyseal dysplasia, 608728 
ACAN Spondyloepimetaphyseal dysplasia, aggrecan type, 612813
MMP13 Spondyloepimetaphyseal dysplasia, Missouri type, 602111
WISP3 Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 
TRAPPC2 Spondyloepiphyseal dysplasia tarda, 313400
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 
ACAN Spondyloepiphyseal dysplasia, Kimberley type, 608361
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330
DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type, 271665
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 
TRPV4 Spondylometaphyseal dysplasia, Kozlowski type, 184252 
COL2A1 Spondyloperipheral dysplasia, 271700
TNFRSF10B Squamous cell carcinoma, head and neck, 275355
ING1-PTEN Squamous cell carcinoma, head and neck, somatic, 275355
NOG Stapes ankylosis with broad thumb and toes, 184460
FAM58A STAR syndrome, 300707 
ABCA4 Stargardt disease 1, 248200
ELOVL4 Stargardt disease 3, 600110
PROM1 Stargardt disease 4, 603786
KRT17 Steatocystoma multiplex,184500 
COL2A1 Stickler sydrome, type I, nonsyndromic ocular, 609508
COL2A1 Stickler syndrome, type I, 108300
COL11A1 Stickler syndrome, type II, 604841
COL11A2 Stickler syndrome, type III, 184840
COL9A1 Stickler syndrome, type IV, 614134 
COL9A2 Stickler syndrome, type V, 614284 
FBN1 Stiff skin syndrome, 184900
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome, 300434 
PDE8B Striatal degeneration, autosomal dominant, 609161 
NUP62 Striatonigral degeneration, infantile, 271930 
F2-F5 Stroke, ischemic, susceptibility to, 601367
PDE4D Stroke, susceptibility to, 1, 606799 
GNAQ Sturge-Weber syndrome, somatic, mosaic,185300 
LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559
DCX Subcortical laminal heteropia, X-linked, 300067 
PAFAH1B1 Subcortical laminar heterotopia, 607432 
ALDH2 Sublingual nitroglycerin, susceptibility to poor response to 
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency, 271980 
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 
SI Sucrase-isomaltase deficiency, congenital, 222900 
SCN5A Sudden infant death syndrome, susceptibility to, 272120
TSPYL1 Sudden infant death with dysgenesis of the testes syndrome,608800 
SUOX Sulfite oxidase deficiency, 272300 
MAPT Supranuclear palsy, progressive atypical, 260540
MAPT Supranuclear palsy, progressive, 601104
ELN Supravalvar aortic stenosis,185500 
SFTPB Surfactant metabolism dysfunction, pulmonary, 1, 265120
SFTPC Surfactant metabolism dysfunction, pulmonary, 2, 610913
ABCA3 Surfactant metabolism dysfunction, pulmonary, 3, 610921
CSF2RA Surfactant metabolism dysfunction, pulmonary, 4, 300770
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5, 614370
TEAD1 Sveinsson choreoretinal atrophy, 108985 
CFTR Sweat chloride elevation without CF 
NOG Symphalangism, proximal, 185800
DMP1 Symphalangism, proximal, 1B, 615298
GDF5 Symphalangism,proximal, 1B,615298 
GJA1 Syndactyly, type III,186100 
LMBR1 Syndactyly, type IV, 186200 
HOXD13 Syndactyly, type V, 186300
HOXD13 Synpolydactyly with foot anomalies, 186000
FBLN1 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180
HOXD13 Synpolydactyly, type II, 186000
DNASE1L3 Systemic lupus erythematosus 16, 614420
IKZF1 Systemic lupus erythematosus, association with (Han (2009) Nat Genet 41,1234) 
TREX1 Systemic lupus erythematosus, susceptibility to, 152700 
CR2 Systemic lupus erythematosus, susceptibility to, 9, 610927
ABCA1 Tangier disease, 205400 
RBM10 TARP syndrome, 311900 
NOG Tarsal-carpal coalition syndrome, 186570
RNF170 taxia, sensory, 1, autosomal dominant, 608984 
HEXA Tay-Sachs disease, 272800
BAX T-cell acute lymphoblastic leukemia 
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 
STK4 T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868
ENG Telangiectasia, hereditary hemorrhagic, type 1,187300 
ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2,600376 
GDF2 Telangiectasia, hereditary hemorrhagic, type 5,615506 
CHSY1 Temtamy preaxial brachydactyly syndrome, 605282 
C12orf57 Temtamy syndrome, 218340 
FLNA Terminal osseous dysplasia, 300244
GATA4 Testicular anomalies with or without congenital heart disease,615542 
SLC34A2 Testicular microlithiasis, 610441 
STK11 Testicular tumor, somatic, 273300 
WNT3 Tetra-amelia, autosomal recessive, 273395
GDF1-ZFPM2-GATA6-GATA4 Tetralogy of Fallot, 187500
HBD Thalassemia due to Hb Lepore 
HBA2 Thalassemia, alpha-, 604131
HBD Thalassemia, delta-
HBB Thalassemia-beta, dominant inclusion-body, 603902 
HBB Thalassemias, beta-, 613985
FGFR3 Thanatophoric dysplasia, type I, 187600
FGFR3 Thanatophoric dysplasia, type II, 187601
SLC19A3 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483
SLC25A19 Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 
TPK1 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458
SLC19A2 Thiamine-responsive megaloblastic anemia syndrome, 249270
CCDC8 Three M syndrome 3, 614205
SH2B3 Thrombocythemia, somatic, 187950
THPO Thrombocythemia 1, 187950
MPL Thrombocythemia 2, 601977
ANKRD26 Thrombocytopenia 2, 188000
JAK2 Thrombocythemia 3,614521 
CYCS Thrombocytopenia 4, 612004
GATA1 Thrombocytopenia with beta-thalassemia, X-linked, 314050 
MPL Thrombocytopenia, congenital amegakaryocytic, 604498
ITGB3 Thrombocytopenia, neonatal alloimmune 
ITGA2B Thrombocytopenia, neonatal alloimmune, BAK antigen related
GATA1 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
MASTL Thrombocytopenia-2, 188000
RBM8A Thrombocytopenia-absent radius syndrome, 274000
MTHFR Thromboembolism, susceptibility to, 188050 
F5 Thrombophilia due to activated protein C resistance, 188055 
SERPINC1 Thrombophilia due to antithrombin III deficiency, 613118
HRG Thrombophilia due to elevated HRG, 613116 
SERPIND1 Thrombophilia due to heparin cofactor II deficiency 
HRG Thrombophilia due to HRG deficiency, 613116
PROC Thrombophilia due to protein C deficiency, autosomal dominant, 176860
PROC Thrombophilia due to protein C deficiency, autosomal recessive, 612304 
PROS1 Thrombophilia due to protein S deficiency, autosomal dominant, 612336
PROS1 Thrombophilia due to protein S deficiency, autosomal recessive, 614514 
F2 Thrombophilia due to thrombin defect, 188050
THBD Thrombophilia due to thrombomodulin defect, 614486
FGB-FGG Thrombophilia, dysfibrinogenemic 
F5 Thrombophilia, susceptibility to, due to factor V Leiden, 188055
F9 Thrombophilia, X-linked, due to factor IX defect, 300807
CBS-CEL Thrombosis, hyperhomocysteinemic, 236200 
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150
TBXAS1 Thromboxane synthase deficiency, 614158 
DUOX2 Thryoid dyshormonogenesis 6, 607200
TSHR Thyroid adenoma, hyperfunctioning, somatic
TSHR Thyroid carcinoma with thyrotoxicosis
MINPP1 Thyroid carcinoma, follicular, 188470 
HRAS-NRAS-PTEN Thyroid carcinoma, follicular, somatic, 188470
GOLGA5-NCOA4-PCM1-TRIM24-TRIM33 Thyroid carcinoma, papillary, 188550
SLC5A5 Thyroid dyshormonogenesis 1, 274400
TPO Thyroid dyshormonogenesis 2A, 274500
TG Thyroid dyshormonogenesis 3, 274700
IYD Thyroid dyshormonogenesis 4, 274800
DUOXA2 Thyroid dyshormonogenesis 5, 274900
SECISBP2 Thyroid hormone metabolism, abnormal, 609698
THRB Thyroid hormone resistance, 188570
THRB Thyroid hormone resistance, autosomal recessive, 274300
THRB Thyroid hormone resistance, selective pituitary, 145650 
CACNA1S Thyrotoxic periodic paralysis, susceptibility to, 1, 188580 
TRHR Thyrotropin-releasing hormone resistance, generalized
SERPINA7 Thyroxine-binding globulin deficiency 
TTN Tibial muscular dystrophy, tardive, 600334
MITF Tietz albinism-deafness syndrome, 103500
CACNA1C Timothy syndrome, 601005 Brugada syndrome 3, 611875
C1GALT1C1 Tn polyagglutination syndrome, somatic, 300622 
COL7A1 Toenail dystrophy,isolated,607523 
CYP2C9 Tolbutamide poor metabolizer
PAX9 Tooth agenesis selective 3,604625 
MSX1 Tooth agenesis,selective,1,with or without orofacial cleft,106600 
WNT10A Tooth agenesis,selective,4,150400 
EDA Tooth agenesis,selective,X-linked 1,313500 
MMP2 Torg-Winchester syndrome,259600 
SLITRK1 Tourette syndrome, 137580
SALL1 Townes-Brocks syndrome, 107480
TALDO1 Transaldolase deficiency, 606003 
TCN2 Transcobalamin II deficiency, 275350 
HFE Transferrin serum level QTL2, 614193 
COL7A1 Transient bullous of the newborn,131705 
GDF1 Transposition of great arteries, dextro-looped 3, 613854
MED13L Transposition of the great arteries, dextro-looped 1, 608808 
CFC1 Transposition of the great arteries, dextro-looped 2, 613853 
TCOF1 Treacher Collins syndrome 1, 154500 
POLR1D Treacher Collins syndrome 2,613717 
POLR1C Treacher Collins syndrome 3,248390 
FUS Tremor, hereditary essential, 4, 614782 
DLX3 Trichodontoosseous syndrome,190320 
CYLD Trichoepithelioma,multiple familial,1,601606 
TTC37 Trichohepatoenteric syndrome 1, 222470
SKIV2L Trichohepatoenteric syndrome 2, 614602
TRPS1 Trichorhinophalangeal syndrome, type I, 190350
TRPS1 Trichorhinophalangeal syndrome, type III, 190351 
ERCC2-ERCC3 Trichothiodystrophy, 601675
GTF2H5 Trichothiodystrophy, complementation group A, 601675 
MPLKIP Trichothiodystrophy, nonphotosensitive 1, 234050 
SLITRK1 Trichotillomania, 613229 
HADHA-HADHB Trifunctional protein deficiency, 609015 
FGFR1 Trigonocephaly 1, 190440
FMO3 Trimethylaminuria, 602079 
LMBR1 Triphalangeal thumb, type I, 174500
LMBR1 Triphalangeal thumb-polysyndactyly syndrome, 174500
MYH8 Trismus-pseudocamptodactyly syndrome,158300 
SPINK1 Tropical calcific pancreatitis, 608189 
SPG20 Troyer syndrome, 275900 
PRSS1 Trypsinogen deficiency, 614044 
TSC1 Tuberous sclerosis-1, 191100 
TSC2 Tuberous sclerosis-2, 613254 
BAP1 Tumor predisposition syndrome,614327 
SAMD9 Tumoral calcinosis familial normophosphatemic,610455 
GALNT3 Tumoral calcinosis, hyperphosphatemic, familial,211900 
KL Tumoral calcinosis, hyperphosphatemic,211900 
FGF23 Tumoral calcinosis,hyperphosphatemic,familial,211900 
RHBDF2 Tylosis with esophageal cancer,148500 
TYK2 Tyrosine kinase 2 deficiency, 611521
FAH Tyrosinemia, type I, 276700 
TAT Tyrosinemia, type II, 276600 
HPD Tyrosinemia, type III, 276710
COL6A-COL6A21-COL6A3 Ullrich congenital muscular dystrophy, 254090
WNT7A Ulna and fibula,absence of,with severe limb deficiency,276820 
TBX3 Ulnar-mammary syndrome,181450 
ECM1 Urbach-Wiethe disease,247100 
SLC2A9 Uric acid concentration, serum, QTL 2, 612076 
UROC1 Urocanase deficiency, 276880 
HPSE2 Urofacial syndrome 1, 236730
LRIG2 Urofacial syndrome 2, 615112
HARS Usher syndrome type 3B, 614504 
MYO7A Usher syndrome, type 1B, 276900 
CDH23 Usher syndrome, type 1D, 601067
CDH23 Usher syndrome, type 1D/F digenic, 601067 
PCDH15 Usher syndrome, type 1D/F digenic,601067 
PCDH15 Usher syndrome, type 1F, 602083 
USH1G Usher syndrome, type 1G, 606943
USH2A Usher syndrome, type 2A, 276901
GPR98 Usher syndrome, type 2C, 605472
GPR98 Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 
DFNB31 Usher syndrome, type 2D, 611383 
CLRN1 Usher syndrome, type 3A, 276902
CIB2 Usher syndrome, type IJ, 614869 
USH1C Usher syndrome,type 1C,276904 
ERCC6 UV-sensitive syndrome 1, 600630
ERCC8 UV-sensitive syndrome 2, 614621 
UVSSA UV-sensitive syndrome 3,614640 
HOXD13 VACTERL association, 192350 
ZIC3 VACTERL association, X-linked, 314390 
SOST Van Buchem disease, 239100
LRP5 van Buchem disease, type 2, 607636
SCARF2 Van den Ende-Gupta syndrome, 600920
GRHL3 Van der Woude syndrome 2, 606713 
IRF6 van der Woude syndrome,119300 
DCHS1 Van Maldergem syndrome 1, 601390 
FAT4 Van Maldergem syndrome 2,615546 
MTHFR Vascular disease, susceptibility to 
TREX1 Vasculopathy, retinal, with cerebral leukodystrophy, 192315
PTEN VATER association with macrocephaly and ventriculomegaly, 276950
CPS1 Venoocclusive disease after bone marrow transplantation 
TEK Venous malformations multiple cutaneous and mucosal,600195 
F13A1 Venous thrombosis, protection against, 188050 
SCN5A Ventricular fibrillation, familial, 1, 603829
DPP6 Ventricular fibrillation, paroxysmal familial, 2 
GATA4 Ventricular septal defect 1,614429 
CITED2 Ventricular septal defect 2, 614431
RYR2 Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772
CASQ2 Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938
CALM1 Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 -3 
TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441
GNAI2 Ventricular tachycardia, idiopathic, 192605 
PUF60 Verheij syndrome, 615583 
HOXD10 Vertical talus, congenital, 192950
ROBO2 Vesicoureteral reflux 2, 610878
SOX17 Vesicoureteral reflux 3, 613674
TNXB Vesicoureteral reflux 8,615963 
EPG5 Vici syndrome, 242840
CYP27B1 Vitamin D-dependent rickets, type I, 264700 
GGCX Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 
VKORC1 Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473
BEST1 Vitelliform macular dystrophy, adult-onset, 608161
BEST1 Vitreoretinochoroidopathy, 193220
COL2A1 Vitreoretinopathy with phalangeal epiphyseal dysplasia
CAPN5 Vitreoretinopathy, neovascular inflammatory, 193235 
ACADVL VLCAD deficiency, 201475 
LOR Vohwinkel syndrome with ichthyosis,604117 
GJB2 Vohwinkel syndrome, 124500
VHL von Hippel-Lindau syndrome,193300 
GP1BA von Willebrand disease, platelet-type, 177820 
VWF von Willebrand disease, type 1, 193400
VWF von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554
VWF von Willibrand disease, type 3, 277480 
PAX3 Waardenburg syndrome, type 1, 193500 
MITF Waardenburg syndrome, type 2A, 193510
SNAI2 Waardenburg syndrome, type 2D, 608890 
SOX10 Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584
PAX3 Waardenburg syndrome,type 3,148820 
EDNRB Waardenburg syndrome, type 4A, 277580 
EDN3 Waardenburg syndrome, type 4B, 613265
SOX10 Waardenburg syndrome, type 4C, 613266
TYR Waardenburg syndrome/albinism, digenic, 103470 
MITF Waardenburg syndrome/ocular albinism, digenic, 103470
VCAN Wagner syndrome 1, 143200 
RAB3GAP1 Warburg micro syndrome 1, 600118 
RAB3GAP2 Warburg micro syndrome 2, 614225 
RAB18 Warburg micro syndrome 3, 614222 
TBC1D20 Warburg micro syndrome 4, 615663 
VKORC1 Warfarin resistance, 122700 
F9-CYP2C9 Warfarin sensitivity, 122700
DDX11 Warsaw breakage syndrome, 613398 
NF1 Watson syndrome, 193520 
EZH2 Weaver syndrome, 277590 
ADAMTS10 Weill-Marchesani syndrome 1 recessive,277600 
FBN1 Weill-Marchesani syndrome 2, dominant, 608328
LTBP2 Weill-Marchesani syndrome 3, recessive, 614819 
ADAMTS17 Weill-Marchesani-like syndrome,613195 
COL11A2 Weissenbacher-Zweymuller syndrome, 277610
TIA1 Welander distal myopathy, 604454
WRN Werner syndrome,277700 
EVC-EVC2 Weyers acrodental dysostosis,193530 
CXCR4 WHIM syndrome, 193670
KRT4 White sponge nevus 1,193900 
KRT13 White sponge nevus 2,615785 
ZC4H2 Wieacker-Wolf syndrome, 314580
KMT2A Wiedemann-Steiner syndrome, 605130 
BRCA2 Wilms tumor, 194070
GPC3 Wilms tumor, somatic, 194070 
WT1 Wilms tumor, type 1, 194070 
ATP7B Wilson disease, 277900 
HDAC8 Wilson-Turner syndrome, 309585
WAS Wiskott-Aldrich syndrome, 301000
WIPF1 Wiskott-Aldrich syndrome 2, 614493
EIF2AK3 Wolcott-Rallison syndrome, 226980 
PRKAG2 Wolff-Parkinson-White syndrome, 194200
WFS1 Wolfram syndrome,222300 
CISD2 Wolfram syndrome 2, 604928
WFS1 Wolfram-like syndrome,autosomal dominant,614296 
LIPA Wolman disease, 278000 
DCAF17 Woodhouse-Sakati syndrome, 241080 
KRT74 Woolly hair, autosomal dominant,194300 
LPAR6 Woolly hair,autosomal recessive 1,with or without hypotrichosis,278150 
LIPH Woolly hair,autosomal recessive 2,with or without hypotrichosis 
ATP6V0A2 Wrinkly skin syndrome, 278250 
XDH Xanthinuria, type I, 278300 
XPC Xeroderma pigmentosum group C,278720 
POLH Xeroderma pigmentosum variant type,278750 
XPA Xeroderma pigmentosum, group A, 278700 
ERCC3 Xeroderma pigmentosum, group B, 610651
ERCC2 Xeroderma pigmentosum, group D, 278730
ERCC4 Xeroderma pigmentosum, group F,278760 
ERCC5 Xeroderma pigmentosum, group G, 278780
ERCC5 Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 
ERCC4 Xeroderma pigmentosum, type F/Cockayne syndrome,278760 
DDB2 Xeroderma pigmentosum,group E,DDB-negative subtype,278740 
ERCC4 XFE progeroid syndrome,610965 
FIG4 Yunis-Varon syndrome,216340 
SLC30A2 Zinc deficiency, transient neonatal, 608118



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