Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 63915
Gene Symbol: BLOC1S5
BLOC1S5
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking. 11912185

2002
Entrez Id: 84343
Gene Symbol: HPS3
HPS3
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. 12445206

2002
Entrez Id: 84343
Gene Symbol: HPS3
HPS3
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. 11707070

2001
Entrez Id: 89781
Gene Symbol: HPS4
HPS4
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD An established light ear mutant (C57BL/6J-Pdeb(rd1) le) mouse cell line exhibits a block to secretion of lysosomal enzymes. 10739679

2000
Entrez Id: 85440
Gene Symbol: DOCK7
DOCK7
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Misty (m) affects growth traits. 9688956

1998
Entrez Id: 85440
Gene Symbol: DOCK7
DOCK7
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD The murine misty mutation: phenotypic effects on melanocytes, platelets and brown fat. 9475748

1998
Entrez Id: 23657
Gene Symbol: SLC7A11
SLC7A11
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Inherited prolonged bleeding time and platelet storage pool deficiency in the subtle gray (sut) mouse. 8699821

1996
Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Role of natural killer cells on engraftment of human lymphoid cells and on metastasis of human T-lymphoblastoid leukemia cells in C57BL/6J-scid mice and in C57BL/6J-scid bg mice. 8806787

1996
Entrez Id: 63915
Gene Symbol: BLOC1S5
BLOC1S5
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. 1912584

1991
Entrez Id: 89781
Gene Symbol: HPS4
HPS4
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Analysis of atherosclerosis susceptibility in mice with genetic defects in platelet function. 2369371

1990
Entrez Id: 11234
Gene Symbol: HPS5
HPS5
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Analysis of atherosclerosis susceptibility in mice with genetic defects in platelet function. 2369371

1990
Entrez Id: 84343
Gene Symbol: HPS3
HPS3
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Cocoa: a new mouse model for platelet storage pool deficiency. 3408670

1988
Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Retinopretectal and accessory optic projections of normal mice and the OKN-defective mutant mice beige, beige-J, and pearl. 3584547

1987
Entrez Id: 89781
Gene Symbol: HPS4
HPS4
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency. 3516713

1986
Entrez Id: 11234
Gene Symbol: HPS5
HPS5
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. 6696991

1984
Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. 6696991

1984
Entrez Id: 89781
Gene Symbol: HPS4
HPS4
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Pigmentation and lysosomal phenotypes in mice doubly homozygous for both light-ear and pale-ear mutant alleles. 6232310

1984
Entrez Id: 89781
Gene Symbol: HPS4
HPS4
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. 6696991

1984
Entrez Id: 11234
Gene Symbol: HPS5
HPS5
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Altered secretion of kidney lysosomal enzymes in the mouse pigment mutants ruby-eye, ruby-eye-2-J, and maroon. 6776948

1980
Entrez Id: 89781
Gene Symbol: HPS4
HPS4
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Synthesis and secretion of kidney beta-galactosidase in mutant le/le mice. 417081

1978
Entrez Id: 63915
Gene Symbol: BLOC1S5
BLOC1S5
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Muted, a new mutant affecting coat colour and otoliths of the mouse, and its position in linkage group XIV. 5367369

1969