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: 10383
Gene Symbol: TUBB4B
TUBB4B
tubulin beta 4B class IVb 0.650 0.654 0.81
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS
disease 0.600 moderate 1.000 1 0 2017 2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 1.000 definitive 0.980 8 0 1994 2020
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder)
disease 0.400 definitive 1.000 6 0 1994 2017
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.440 0.808 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 0.900 definitive 0.981 6 0 1990 2020
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.440 0.808 1.00
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder)
disease 0.690 definitive 1.000 6 0 1996 2019
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
troponin T2, cardiac type 0.601 0.423 2.0E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.800 definitive 0.982 11 0 1991 2018
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: 7125
Gene Symbol: TNNC2
TNNC2
troponin C2, fast skeletal type 0.931 0.077 1.6E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.300 0 0
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
troponin C1, slow skeletal and cardiac type 0.647 0.462 0.68
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.500 moderate 0.963 12 0 1997 2019
Entrez Id: 7168
Gene Symbol: TPM1
TPM1
tropomyosin 1 0.560 0.615 1.0E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.500 definitive 0.986 18 0 1993 2019
Entrez Id: 84676
Gene Symbol: TRIM63
TRIM63
tripartite motif containing 63 0.617 0.538 4.3E-13
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.640 limited 0.857 4 0 2001 2019
Entrez Id: 11078
Gene Symbol: TRIOBP
TRIOBP
TRIO and F-actin binding protein 0.743 0.269 2.0E-28
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 definitive 1.000 8 0 2006 2016
Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1
treacle ribosome biogenesis factor 1 0.550 0.808 0.95
CUI: C0265241
Disease: Franceschetti-Klein syndrome
Franceschetti-Klein syndrome
disease 0.300 definitive 1.000 7 0 1996 2019
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
transmembrane serine protease 3 0.650 0.538 6.1E-11
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.380 definitive 0.929 8 0 2000 2019
Entrez Id: 124842
Gene Symbol: TMEM132E
TMEM132E
transmembrane protein 132E 0.805 0.231 4.5E-05
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 55654
Gene Symbol: TMEM127
TMEM127
transmembrane protein 127 0.638 0.615 1.3E-02
Hereditary Paraganglioma-Pheochromocytoma Syndrome
disease 0.400 definitive 1.000 8 0 2010 2016
Entrez Id: 160335
Gene Symbol: TMTC2
TMTC2
transmembrane O-mannosyltransferase targeting cadherins 2 0.760 0.269 2.3E-02
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.300 disputed 1.000 1 0 2016 2016
Entrez Id: 259236
Gene Symbol: TMIE
TMIE
transmembrane inner ear 0.890 0.115 7.7E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.320 definitive 1.000 7 0 2002 2014
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
transmembrane channel like 1 0.769 0.346 9.2E-19
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.400 definitive 1.000 12 0 1996 2017
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
transmembrane channel like 1 0.769 0.346 9.2E-19
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7
disease 0.900 definitive 1.000 6 0 1980 2015
Entrez Id: 1678
Gene Symbol: TIMM8A
TIMM8A
translocase of inner mitochondrial membrane 8A 0.510 0.846 0.65
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME
disease 0.800 definitive 0.958 7 0 1996 2019
Entrez Id: 51204
Gene Symbol: TACO1
TACO1
translational activator of cytochrome c oxidase I 0.647 0.577 1.5E-03
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.610 moderate 1.000 3 0 2009 2016
Entrez Id: 51204
Gene Symbol: TACO1
TACO1
translational activator of cytochrome c oxidase I 0.647 0.577 1.5E-03
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.300 moderate 1.000 3 0 2009 2016
Entrez Id: 51204
Gene Symbol: TACO1
TACO1
translational activator of cytochrome c oxidase I 0.647 0.577 1.5E-03
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
disease 0.300 moderate 1.000 3 0 2009 2016
Entrez Id: 51204
Gene Symbol: TACO1
TACO1
translational activator of cytochrome c oxidase I 0.647 0.577 1.5E-03
Leigh Syndrome due to Mitochondrial Complex III Deficiency
disease 0.300 moderate 1.000 3 0 2009 2016