DTNBP1, dystrobrevin binding protein 1, 84062

N. diseases: 93; N. variants: 22
Disease: HERMANSKY-PUDLAK SYNDROME 7 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279756
Disease: HERMANSKY-PUDLAK SYNDROME 7
HERMANSKY-PUDLAK SYNDROME 7 		0.800 Biomarker disease GENOMICS_ENGLAND Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. 28259707 2017
CUI: C3279756
Disease: HERMANSKY-PUDLAK SYNDROME 7
HERMANSKY-PUDLAK SYNDROME 7 		0.800 Biomarker disease GENOMICS_ENGLAND Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). 12923531 2003
CUI: C3279756
Disease: HERMANSKY-PUDLAK SYNDROME 7
HERMANSKY-PUDLAK SYNDROME 7 		0.800 GermlineCausalMutation disease ORPHANET Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). 12923531 2003
CUI: C3279756
Disease: HERMANSKY-PUDLAK SYNDROME 7
HERMANSKY-PUDLAK SYNDROME 7 		0.800 Biomarker disease MGD Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). 12923531 2003
CUI: C3279756
Disease: HERMANSKY-PUDLAK SYNDROME 7
HERMANSKY-PUDLAK SYNDROME 7 		0.800 Biomarker disease MGD Sandy: a new mouse model for platelet storage pool deficiency. 1936982 1991
CUI: C3279756
Disease: HERMANSKY-PUDLAK SYNDROME 7
HERMANSKY-PUDLAK SYNDROME 7 		0.800 CausalMutation disease CLINVAR
CUI: C3279756
Disease: HERMANSKY-PUDLAK SYNDROME 7
HERMANSKY-PUDLAK SYNDROME 7 		0.800 Biomarker disease GENOMICS_ENGLAND