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: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		disease 0.300 definitive 1.000 16 0 1965 2011
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 definitive 1.000 15 0 2008 2017
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
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.300 limited 1.000 12 0 2003 2017
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.300 limited 1.000 12 0 2003 2017
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		disease 0.300 limited 1.000 12 0 2003 2017
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		disease 0.300 limited 1.000 12 0 2003 2017
Entrez Id: 1687
Gene Symbol: GSDME
GSDME 		gasdermin E 0.656 0.423 3.3E-09
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease 0.300 definitive 1.000 12 0 1998 2016
Entrez Id: 1687
Gene Symbol: GSDME
GSDME 		gasdermin E 0.656 0.423 3.3E-09
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		disease 0.300 definitive 1.000 12 0 1998 2016
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		NADH:ubiquinone oxidoreductase core subunit S1 0.595 0.692 6.6E-11
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 12 0 1991 2016
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		NADH:ubiquinone oxidoreductase core subunit S1 0.595 0.692 6.6E-11
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 12 0 1991 2016
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		NADH:ubiquinone oxidoreductase core subunit S1 0.595 0.692 6.6E-11
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 12 0 1991 2016
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		NADH:ubiquinone oxidoreductase core subunit S1 0.595 0.692 6.6E-11
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 12 0 1991 2016
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		NADH:ubiquinone oxidoreductase core subunit S1 0.595 0.692 6.6E-11
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 12 0 1991 2016
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		NADH:ubiquinone oxidoreductase core subunit S1 0.595 0.692 6.6E-11
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		disease 0.300 definitive 1.000 12 0 1991 2016
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		NADH:ubiquinone oxidoreductase subunit S4 0.587 0.808 3.1E-04
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 12 0 2003 2018
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		NADH:ubiquinone oxidoreductase subunit S4 0.587 0.808 3.1E-04
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 12 0 2003 2018
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		NADH:ubiquinone oxidoreductase subunit S4 0.587 0.808 3.1E-04
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 12 0 2003 2018
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		NADH:ubiquinone oxidoreductase subunit S4 0.587 0.808 3.1E-04
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 12 0 2003 2018