Source: CLINVAR

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: 54802
Gene Symbol: TRIT1
TRIT1 		tRNA isopentenyltransferase 1 0.621 0.692 4.1E-11
CUI: C4693466
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 		disease 0.600 strong 1.000 2 2 2014 2017
Entrez Id: 54802
Gene Symbol: TRIT1
TRIT1 		tRNA isopentenyltransferase 1 0.621 0.692 4.1E-11
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 1
Entrez Id: 54802
Gene Symbol: TRIT1
TRIT1 		tRNA isopentenyltransferase 1 0.621 0.692 4.1E-11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype 0.100 None 0 1