×
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6
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
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
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
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
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
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
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
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
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
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
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
Platelet Storage Pool Deficiency
0.220
Biomarker
MGD
Prevention of congenital otolith defect in pallid mutant mice by manganese supplementation.
5559839 1971
×
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models.
25477496 2015
×
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Iris phenotypes and pigment dispersion caused by genes influencing pigmentation.
18715234 2008
×
Entrez Id: 5874
Gene Symbol: RAB27B
RAB27B
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Our data suggest that Rab27b is a key regulator of dense granule secretion in platelets and thus a candidate gene for delta-storage pool deficiency in humans.
17384153 2007
×
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
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: 8943
Gene Symbol: AP3D1
AP3D1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Gravity receptor function in mice with graded otoconial deficiencies.
15109702 2004
×
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
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: 84062
Gene Symbol: DTNBP1
DTNBP1
Platelet Storage Pool Deficiency
0.210
Biomarker
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
×
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
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
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: 8546
Gene Symbol: AP3B1
AP3B1
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: 5873
Gene Symbol: RAB27A
RAB27A
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Rab27a enables myosin Va-dependent melanosome capture by recruiting the myosin to the organelle.
11228153 2001
×
Entrez Id: 5873
Gene Symbol: RAB27A
RAB27A
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Rab27a is required for regulated secretion in cytotoxic T lymphocytes.
11266472 2001
×
Entrez Id: 5873
Gene Symbol: RAB27A
RAB27A
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Defective granule exocytosis in Rab27a-deficient lymphocytes from Ashen mice.
11266473 2001