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: 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