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: 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 IV Deficiency
disease 0.500 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 V 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
Necrotizing encephalopathy, infantile subacute, of Leigh
disease 0.300 moderate 1.000 3 0 2009 2016
Entrez Id: 54795
Gene Symbol: TRPM4
TRPM4
transient receptor potential cation channel subfamily M member 4 0.633 0.577 5.7E-33
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
disease 0.530 disputed 1.000 7 0 2012 2018
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 definitive 1.000 14 0 2003 2019
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
transforming growth factor beta receptor 1 0.451 0.885 0.85
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 definitive 1.000 8 0 2005 2019
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
transforming growth factor beta receptor 1 0.451 0.885 0.85
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 1.000 definitive 1.000 6 0 1993 2019
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
transforming growth factor beta receptor 1 0.451 0.885 0.85
Multiple self-healing epithelioma of Ferguson-Smith
disease 0.300 definitive 1.000 3 0 2011 2016
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
transforming growth factor beta 3 0.498 0.808 0.99
Familial thoracic aortic aneurysm and aortic dissection
disease 0.700 limited 1.000 3 0 2006 2015
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
transforming growth factor beta 2 0.433 0.885 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 definitive 1.000 3 0 2012 2014
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME
disease 1.000 definitive 1.000 9 0 2007 2019
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
titin-cap 0.682 0.538 0.19
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.340 limited 1.000 4 0 1997 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.500 limited 1.000 9 0 1996 2019
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
tight junction protein 2 0.663 0.500 3.2E-11
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.310 limited 1.000 6 0 2008 2015
Entrez Id: 7112
Gene Symbol: TMPO
TMPO
thymopoietin 0.631 0.577 1.5E-07
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.300 0 0
Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR
thrombospondin type laminin G domain and EAR repeats 0.736 0.385 2.4E-17
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.300 disputed 1.000 3 0 2012 2016
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
tetratricopeptide repeat domain 19 0.663 0.385 1.4E-08
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.300 definitive 1.000 8 0 2011 2018
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
tetratricopeptide repeat domain 19 0.663 0.385 1.4E-08
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.300 definitive 1.000 8 0 2011 2018
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
tetratricopeptide repeat domain 19 0.663 0.385 1.4E-08
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
disease 0.300 definitive 1.000 8 0 2011 2018
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
tetratricopeptide repeat domain 19 0.663 0.385 1.4E-08
Leigh Syndrome due to Mitochondrial Complex III Deficiency
disease 0.300 definitive 1.000 8 0 2011 2018
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
tetratricopeptide repeat domain 19 0.663 0.385 1.4E-08
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
disease 0.300 definitive 1.000 8 0 2011 2018
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
tetratricopeptide repeat domain 19 0.663 0.385 1.4E-08
Leigh Syndrome due to Mitochondrial Complex V Deficiency
disease 0.300 definitive 1.000 8 0 2011 2018
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
tetratricopeptide repeat domain 19 0.663 0.385 1.4E-08
Necrotizing encephalopathy, infantile subacute, of Leigh
disease 0.300 definitive 1.000 8 0 2011 2018
Entrez Id: 7102
Gene Symbol: TSPAN7
TSPAN7
tetraspanin 7 0.604 0.731 0.75
CUI: C1846174
Disease: Mental Retardation, X-Linked 58
Mental Retardation, X-Linked 58
disease 0.700 limited 1.000 3 0 2000 2012
Entrez Id: 3371
Gene Symbol: TNC
TNC
tenascin C 0.433 0.846 1.3E-07
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.310 limited 1.000 3 0 1999 2013