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: 215
Gene Symbol: ABCD1
ABCD1
ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 1.000 definitive 0.977 5 0 1981 2020