Source: CLINGEN

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		acyl-CoA synthetase long chain family member 4 0.561 0.769 0.98
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 moderate 1.000 7 0 2002 2016
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 definitive 1.000 12 0 1991 2016
Entrez Id: 191
Gene Symbol: AHCY
AHCY 		adenosylhomocysteinase 0.582 0.692 3.6E-02
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		disease 0.700 moderate 1.000 10 0 1959 2018
Entrez Id: 191
Gene Symbol: AHCY
AHCY 		adenosylhomocysteinase 0.582 0.692 3.6E-02
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		phenotype 0.300 moderate 1.000 10 0 1959 2018
Entrez Id: 107
Gene Symbol: ADCY1
ADCY1 		adenylate cyclase 1 0.659 0.462 1.00
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		disease 0.300 limited 1.000 1 0 2014 2014
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.300 disputed 1.000 11 0 2013 2018
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		disease 0.940 definitive 1.000 8 0 1998 2018
Entrez Id: 23568
Gene Symbol: ARL2BP
ARL2BP 		ADP ribosylation factor like GTPase 2 binding protein 0.647 0.654 3.3E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.500 limited 1.000 2 0 2013 2018
Entrez Id: 23568
Gene Symbol: ARL2BP
ARL2BP 		ADP ribosylation factor like GTPase 2 binding protein 0.647 0.654 3.3E-05
CUI: C4747737
Disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS 		disease 0.900 limited 1.000 2 0 2013 2018
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		AF4/FMR2 family member 2 0.636 0.538 1.00
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		disease 0.740 definitive 1.000 10 0 1993 2013
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1 		aldehyde dehydrogenase 4 family member A1 0.792 0.231 1.4E-05
CUI: C2931835
Disease: Hyperprolinemia type 2
Hyperprolinemia type 2 		disease 0.730 moderate 1.000 3 0 1960 2016
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C3279840
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency 		disease 0.700 limited 1.000 3 0 2000 2016
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1 		aldehyde dehydrogenase 7 family member A1 0.551 0.769 1.4E-22
CUI: C1849508
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT
EPILEPSY, PYRIDOXINE-DEPENDENT 		disease 0.800 definitive 1.000 6 0 2006 2020
Entrez Id: 238
Gene Symbol: ALK
ALK 		ALK receptor tyrosine kinase 0.396 0.846 3.2E-06
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		disease 0.600 definitive 1.000 6 0 2008 2012
Entrez Id: 8540
Gene Symbol: AGPS
AGPS 		alkylglycerone phosphate synthase 0.670 0.538 1.00
CUI: C0282529
Disease: Chondrodysplasia Punctata, Rhizomelic
Chondrodysplasia Punctata, Rhizomelic 		disease 0.330 definitive 1.000 11 0 1982 2014
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		disease 1.000 definitive 1.000 5 0 1998 2020
Entrez Id: 57538
Gene Symbol: ALPK3
ALPK3 		alpha kinase 3 0.792 0.462 8.4E-25
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.400 strong 1.000 4 0 2001 2016
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 0.600 disputed 1.000 2 0 2015 2016
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 0.300 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		disease 0.300 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		disease 0.300 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		disease 0.300 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		disease 0.300 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		disease 0.720 moderate 1.000 6 0 1968 2016
Entrez Id: 275
Gene Symbol: AMT
AMT 		aminomethyltransferase 0.674 0.692 2.7E-03
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		disease 0.800 definitive 1.000 7 0 1983 2019