abnormal platelet dense granule number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description altered number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin (Mammalian Phenotype Ontology, MP_0004722)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004722
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Genes

14 gene mutations causing the abnormal platelet dense granule number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
DTNBP1 dystrobrevin binding protein 1
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS5 Hermansky-Pudlak syndrome 5
KXD1 KxDL motif containing 1
NBEAL2 neurobeachin-like 2
RAB27A RAB27A, member RAS oncogene family
RAB27B RAB27B, member RAS oncogene family
ZFPM1 zinc finger protein, FOG family member 1