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: 4942
Gene Symbol: OAT
OAT
ornithine aminotransferase 0.593 0.731 7.7E-07
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy
disease 1.000 definitive 0.962 13 0 1981 2019