Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.220 Biomarker MGD Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models. 25477496

2015
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.220 Biomarker MGD Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. 18715234

2008
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.220 Biomarker MGD Gravity receptor function in mice with graded otoconial deficiencies. 15109702

2004
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.220 Biomarker MGD Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. 12847290

2003
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.220 Biomarker MGD Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. 12445206

2002
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.220 Biomarker MGD Pulmonary pathologies in pallid mice result from nonhematopoietic defects. 12009785

2002
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.220 Biomarker MGD Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. 10193444

1999
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.220 Biomarker MGD The pallid mouse. A model of genetic alpha 1-antitrypsin deficiency. 8441253

1993
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.220 Biomarker MGD Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. 6696991

1984
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.220 Biomarker MGD Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity. 7089489

1982
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.220 Biomarker MGD Lysosomal dysfunctions associated with mutations at mouse pigment genes. 115747

1979
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.220 Biomarker MGD Prevention of congenital otolith defect in pallid mutant mice by manganese supplementation. 5559839

1971