abnormal platelet dense granule morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin (Mammalian Phenotype Ontology, MP_0004721)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004721
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Genes

25 gene mutations causing the abnormal platelet dense granule morphology 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
C6ORF25 chromosome 6 open reading frame 25
DOCK7 dedicator of cytokinesis 7
DTNBP1 dystrobrevin binding protein 1
FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
KXD1 KxDL motif containing 1
LYST lysosomal trafficking regulator
NBEAL2 neurobeachin-like 2
ORAI1 ORAI calcium release-activated calcium modulator 1
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RAB27A RAB27A, member RAS oncogene family
RAB27B RAB27B, member RAS oncogene family
SLC35D3 solute carrier family 35, member D3
SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11
WDR1 WD repeat domain 1
ZFPM1 zinc finger protein, FOG family member 1