Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency
0.210 Biomarker MGD Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. 18715234

2008

Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency
0.210 Biomarker MGD Lung pathology of pale ear mouse (model of Hermansky-Pudlak syndrome 1) and beige mouse (model of Chediak-Higashi syndrome): severity of giant lamellar body degeneration of type II pneumocytes correlates with interstitial inflammation. 15743322

2005

Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency
0.210 Biomarker MGD Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome. 12777251

2003

Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency
0.210 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: 3257
Gene Symbol: HPS1
HPS1
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency
0.210 Biomarker MGD Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. 12445206

2002

Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency
0.210 Biomarker MGD The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. 9256466

1997

Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency
0.210 Biomarker MGD Analysis of atherosclerosis susceptibility in mice with genetic defects in platelet function. 2369371

1990

Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency
0.210 Biomarker MGD Effects of ammonia on processing and secretion of precursor and mature lysosomal enzyme from macrophages of normal and pale ear mice: evidence for two distinct pathways. 3922995

1985

Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency
0.210 Biomarker MGD Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. 6696991

1984

Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency
0.210 Biomarker MGD Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity. 7089489

1982

Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency
0.210 Biomarker MGD Lysosomal dysfunctions associated with mutations at mouse pigment genes. 115747

1979

Entrez Id: 3257
Gene Symbol: HPS1
HPS1
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency
0.210 Biomarker MGD Genetic control of retinal ganglion cell projections. 102659

1978