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: 2593
Gene Symbol: GAMT
GAMT 		guanidinoacetate N-methyltransferase 0.691 0.269 9.5E-03
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		disease 0.940 definitive 1.000 14 0 1940 2017
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease 0.800 definitive 0.989 14 0 1997 2020
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B 		HNF1 homeobox B 0.473 0.808 1.00
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		disease 0.800 definitive 1.000 14 0 1997 2019
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 definitive 1.000 14 0 2003 2019
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		troponin I3, cardiac type 0.520 0.769 9.6E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.700 definitive 0.991 14 0 1988 2019
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH 		electron transfer flavoprotein dehydrogenase 0.678 0.462 2.8E-13
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		disease 0.800 definitive 1.000 13 0 1985 2019
Entrez Id: 2628
Gene Symbol: GATM
GATM 		glycine amidinotransferase 0.666 0.615 5.1E-02
CUI: C2675179
Disease: Arginine:Glycine Amidinotransferase Deficiency
Arginine:Glycine Amidinotransferase Deficiency 		disease 0.760 definitive 1.000 13 0 1940 2018
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		G protein subunit alpha o1 0.523 0.808 0.99
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		disease 0.510 definitive 1.000 13 0 1997 2019
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		G protein subunit alpha o1 0.523 0.808 0.99
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		disease 0.400 definitive 1.000 13 0 1997 2019
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		G protein subunit alpha o1 0.523 0.808 0.99
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease 0.430 definitive 1.000 13 0 1997 2019
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		disease 1.000 definitive 0.974 13 0 1982 2020
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		disease 0.670 definitive 1.000 13 0 1998 2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.800 definitive 0.988 13 0 1990 2019
Entrez Id: 4693
Gene Symbol: NDP
NDP 		norrin cystine knot growth factor NDP 0.566 0.692 0.65
CUI: C0266526
Disease: Norrie disease
Norrie disease 		disease 1.000 definitive 1.000 13 0 1992 2019
Entrez Id: 4942
Gene Symbol: OAT
OAT 		ornithine aminotransferase 0.593 0.731 7.7E-07
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		disease 1.000 definitive 0.962 13 0 1981 2019
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		potassium sodium-activated channel subfamily T member 1 0.610 0.308 2.8E-05
CUI: C3494976
Disease: Migrating partial seizures in infancy
Migrating partial seizures in infancy 		disease 0.350 definitive 1.000 13 0 1989 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 1.000 definitive 0.987 13 0 2001 2020
Entrez Id: 875
Gene Symbol: CBS
CBS 		cystathionine beta-synthase 0.465 0.885 3.1E-05
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		disease 0.800 definitive 1.000 13 0 1959 2019
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		succinate-CoA ligase ADP-forming subunit beta 0.566 0.654 2.3E-03
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.300 definitive 1.000 13 0 2005 2017
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		succinate-CoA ligase ADP-forming subunit beta 0.566 0.654 2.3E-03
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.300 definitive 1.000 13 0 2005 2017
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		succinate-CoA ligase ADP-forming subunit beta 0.566 0.654 2.3E-03
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease 0.300 definitive 1.000 13 0 2005 2017
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		succinate-CoA ligase ADP-forming subunit beta 0.566 0.654 2.3E-03
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 definitive 1.000 13 0 2005 2017
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		succinate-CoA ligase ADP-forming subunit beta 0.566 0.654 2.3E-03
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		disease 0.300 definitive 1.000 13 0 2005 2017
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		succinate-CoA ligase ADP-forming subunit beta 0.566 0.654 2.3E-03
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		disease 0.300 definitive 1.000 13 0 2005 2017
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		succinate-CoA ligase ADP-forming subunit beta 0.566 0.654 2.3E-03
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		disease 0.300 definitive 1.000 13 0 2005 2017