Disease: HERMANSKY-PUDLAK SYNDROME 8 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 Biomarker disease GENOMICS_ENGLAND A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8. 22709368 2012
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 GeneticVariation disease BEFREE A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). 16385460 2006
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 GermlineCausalMutation disease ORPHANET A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). 16385460 2006
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 Biomarker disease GENOMICS_ENGLAND A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). 16385460 2006
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 Biomarker disease MGD Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. 12445206 2002
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 Biomarker disease MGD Lysosomal mutations increase susceptibility to anaesthetics. 2513223 1989
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 Biomarker disease MGD Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity. 7089489 1982
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 Biomarker disease MGD Reduced pigmentation (rp), a new coat colour gene with effects on kidney lysosomal glycosidases in the mouse. 7203014 1981
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 Biomarker disease GENOMICS_ENGLAND
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.810 CausalMutation disease CLINVAR