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: 26258
Gene Symbol: BLOC1S6
BLOC1S6 		biogenesis of lysosomal organelles complex 1 subunit 6 0.769 0.308 8.0E-09
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		disease 0.810 None 1.000 12 0 1971 2018
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6 		biogenesis of lysosomal organelles complex 1 subunit 6 0.769 0.308 8.0E-09
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.220 None 1.000 12 0 1971 2017
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6 		biogenesis of lysosomal organelles complex 1 subunit 6 0.769 0.308 8.0E-09
CUI: C0029607
Disease: Other emphysema
Other emphysema 		phenotype 0.200 None 1.000 12 0 1971 2015