Disease: Platelet Storage Pool Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.210 GeneticVariation disease BEFREE A previously described hypopigmented mouse mutant with an Ap3d1 null mutation (mocha strain) shares the neurologic phenotype with our patient and shows a platelet storage pool deficiency characteristic of Hermansky-Pudlak syndrome (HPS) that was not studied in our patient because of a lack of bleeding. 26744459 2016
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.210 Biomarker disease MGD Gravity receptor function in mice with graded otoconial deficiencies. 15109702 2004
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.210 Biomarker disease MGD Mouse models of Hermansky Pudlak syndrome: a review. 9585243 1998
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.210 Biomarker disease MGD Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. 9697856 1998
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.210 Biomarker disease MGD Mocha, a new coat color and behavior mutation on chromosome 10 of the mouse. 4448900 1975