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: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		disease 0.690 definitive 1.000 8 0 1994 2018
Entrez Id: 124590
Gene Symbol: USH1G
USH1G 		USH1 protein network component sans 0.659 0.346 3.7E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.300 disputed 1.000 10 0 2011 2018
Entrez Id: 124590
Gene Symbol: USH1G
USH1G 		USH1 protein network component sans 0.659 0.346 3.7E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.500 definitive 1.000 9 0 1992 2016
Entrez Id: 124590
Gene Symbol: USH1G
USH1G 		USH1 protein network component sans 0.659 0.346 3.7E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		disease 0.450 definitive 1.000 9 0 2002 2016
Entrez Id: 124590
Gene Symbol: USH1G
USH1G 		USH1 protein network component sans 0.659 0.346 3.7E-05
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		disease 0.300 definitive 1.000 9 0 2002 2016
Entrez Id: 124590
Gene Symbol: USH1G
USH1G 		USH1 protein network component sans 0.659 0.346 3.7E-05
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		disease 0.300 definitive 1.000 9 0 2002 2016
Entrez Id: 124590
Gene Symbol: USH1G
USH1G 		USH1 protein network component sans 0.659 0.346 3.7E-05
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		disease 0.300 definitive 1.000 9 0 2002 2016
Entrez Id: 10083
Gene Symbol: USH1C
USH1C 		USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.340 limited 1.000 5 0 2000 2009
Entrez Id: 10083
Gene Symbol: USH1C
USH1C 		USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.500 definitive 1.000 4 0 2000 2014
Entrez Id: 10083
Gene Symbol: USH1C
USH1C 		USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		disease 0.500 definitive 0.947 4 0 1996 2017
Entrez Id: 10083
Gene Symbol: USH1C
USH1C 		USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		disease 0.300 definitive 1.000 4 0 2000 2010
Entrez Id: 10083
Gene Symbol: USH1C
USH1C 		USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		disease 0.300 definitive 1.000 4 0 2000 2010
Entrez Id: 10083
Gene Symbol: USH1C
USH1C 		USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		disease 0.300 definitive 1.000 4 0 2000 2010
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		ubiquitin protein ligase E3A 0.561 0.692 1.00
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		disease 1.000 definitive 0.967 8 0 1997 2020
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		ubiquitin conjugating enzyme E2 A 0.623 0.692 0.81
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		disease 0.700 definitive 1.000 7 0 2006 2018
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ 		ubiquinol-cytochrome c reductase complex III subunit VII 0.722 0.308 4.8E-02
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.300 limited 1.000 2 0 2008 2015
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ 		ubiquinol-cytochrome c reductase complex III subunit VII 0.722 0.308 4.8E-02
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.300 limited 1.000 2 0 2008 2015
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ 		ubiquinol-cytochrome c reductase complex III subunit VII 0.722 0.308 4.8E-02
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease 0.300 limited 1.000 2 0 2008 2015
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ 		ubiquinol-cytochrome c reductase complex III subunit VII 0.722 0.308 4.8E-02
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 limited 1.000 2 0 2008 2015
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ 		ubiquinol-cytochrome c reductase complex III subunit VII 0.722 0.308 4.8E-02
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		disease 0.300 limited 1.000 2 0 2008 2015
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ 		ubiquinol-cytochrome c reductase complex III subunit VII 0.722 0.308 4.8E-02
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		disease 0.300 limited 1.000 2 0 2008 2015
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ 		ubiquinol-cytochrome c reductase complex III subunit VII 0.722 0.308 4.8E-02
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		disease 0.300 limited 1.000 2 0 2008 2015
Entrez Id: 7054
Gene Symbol: TH
TH 		tyrosine hydroxylase 0.462 0.885 1.7E-06
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		disease 0.720 definitive 1.000 18 0 1964 2018
Entrez Id: 6898
Gene Symbol: TAT
TAT 		tyrosine aminotransferase 0.492 0.846 6.9E-03
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		disease 0.800 definitive 1.000 7 0 1969 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 1.000 definitive 0.977 8 0 1988 2020