Source: ANIMAL_MODELS

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 89781
Gene Symbol: HPS4
HPS4
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker MGD Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. 11836498

2002
Entrez Id: 89781
Gene Symbol: HPS4
HPS4
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: 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: 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: 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: 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: 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