Source: MGD

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: 8546
Gene Symbol: AP3B1
AP3B1 		adaptor related protein complex 3 subunit beta 1 0.619 0.808 0.62
CUI: C1842362
Disease: HERMANSKY-PUDLAK SYNDROME 2
HERMANSKY-PUDLAK SYNDROME 2 		disease 0.940 None 1.000 9 0 1981 2017
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1 		adaptor related protein complex 3 subunit beta 1 0.619 0.808 0.62
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.210 None 1.000 9 0 1981 2020