RAB9A, RAB9A, member RAS oncogene family, 9367

N. diseases: 21; N. variants: 0
Disease: Hermanski-Pudlak Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.010 Biomarker disease BEFREE HPS4 protein forms a BLOC-3 complex with HPS1, another <i>HPS</i> gene product, and the complex has been proposed to function as a guanine nucleotide exchange factor (GEF) for RAB32, a member of the Rab small GTPase family (Rab32), and Rab38 (Rab32/38-GEF) and also as a Rab9 effector. 30837268 2019