Tyrosinemia

Disease Term Disease ID Gene Symbol Classification References Source
Tyrosine Transaminase Deficiency Disease C0268487 FAH Causal Pathogenic evidence from ClinVar 12899938, 23895425 ClinVar
HPD Causal Pathogenic evidence from ClinVar - ClinVar
TAT Causal Pathogenic evidence from ClinVar 1357662, 4389443, 9544843, 16318910, 16917729, 18577048, 18945316, 27832414, 28255985 ClinVar
TAT-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1357662, 9544843, 16917729, 18577048, 27832414, 28255985 -
Tyrosinemia type 1 882 FAH Causal Pathogenic evidence from ClinVar - ClinVar
Tyrosinemia, Type I C0268490 FAH Causal Pathogenic evidence from ClinVar 1401056, 2378356, 7296877, 7550234, 7757089, 7929843, 7942842, 7977370, 8005583, 8028615, 8076937, 8162054, 8253378, 8318997, 8364576, 8557261, 8723690, 8723698, 8821854, 8829657, 9095403, 9101289, 9633815, 10508789, 11196105, 11209059, 11278491, 11476670, 11754109, 12203990, 12555948, 12899938, 14691918, 15187789, 15465000, 15638932, 15759101, 16521249, 20003495, 21117323, 21752152, 21764616, 22002443, 22554029, 22802474, 22884142, 22975760, 23193487, 23225041, 23348723, 23430822, 23430836, 23895425, 23927806, 24016420, 24555242, 24756054, 25081276, 25087612, 25256450, 25681080, 26565546, 26829318, 27604308, 27814443, 28755192 ClinVar
HPD Causal Pathogenic evidence from ClinVar - ClinVar
TAT Causal Pathogenic evidence from ClinVar - ClinVar
Tyrosinemia, Type III C0268623 FAH Causal Pathogenic evidence from ClinVar 12899938, 23895425 ClinVar
HPD Causal Pathogenic evidence from ClinVar 4627454, 7774914, 8989996, 10942115, 11073718, 17560158, 23036342 ClinVar
TAT Causal Pathogenic evidence from ClinVar - ClinVar
Tyrosinemias C0268483 FAH Causal Pathogenic evidence from ClinVar 12899938, 23895425 ClinVar
HPD Causal Pathogenic evidence from ClinVar - ClinVar
TAT Causal Pathogenic evidence from ClinVar - ClinVar
SLC25A13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Tyrosinemia type 3 69723 HPD Causal Pathogenic evidence from ClinVar - ClinVar
Tyrosinemia type 2 28378 TAT Causal Pathogenic evidence from ClinVar - ClinVar