Source: CURATED

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: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		disease 0.940 moderate 1.000 7 5 1972 2012
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		disease 0.300 None 1.000 2 0 2003 2014
Entrez Id: 6898
Gene Symbol: TAT
TAT 		tyrosine aminotransferase 0.492 0.846 6.9E-03
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		disease 0.300 None 0 0