abnormal platelet dense granule physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of the specialized secretory organelles located in the small, irregularly shaped anuclear cells derived from fragmentation of precursor megakaryocytes that contain adenine nucleotides (ADP and ATP), ionized calcium, histamine, serotonin, and epinephrine (Mammalian Phenotype Ontology, MP_0009446)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009446
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Genes

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

Symbol Name
AP3B1 adaptor-related protein complex 3, beta 1 subunit
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted
CAPN1 calpain 1, (mu/I) large subunit
GAS6 growth arrest-specific 6
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
PDLIM1 PDZ and LIM domain 1
PRKCQ protein kinase C, theta
RAB27A RAB27A, member RAS oncogene family
RAB27B RAB27B, member RAS oncogene family
RANBP10 RAN binding protein 10
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