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: 55526
Gene Symbol: DHTKD1
DHTKD1 		dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		disease 0.700 None 1.000 3 6 2012 2016