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: 686
Gene Symbol: BTD
BTD 		biotinidase 0.628 0.654 1.5E-07
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		disease 1.000 definitive 0.988 72 186 1993 2019