GOLPH3, golgi phosphoprotein 3, 64083

N. diseases: 140; N. variants: 1
Disease: HERMANSKY-PUDLAK SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842362
Disease: HERMANSKY-PUDLAK SYNDROME 2
HERMANSKY-PUDLAK SYNDROME 2 		0.010 Biomarker disease BEFREE A second HPS-causing gene is ADTB3A, coding for the beta3A subunit of adaptor complex-3 (AP-3, a coat protein complex) and resulting in HPS-2 disease. 11592818 2001