P2RY12, purinergic receptor P2Y12, 64805

N. diseases: 153; N. variants: 19
Disease: Bleeding Disorder Due To P2RY12 Defect ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917885
rs121917885
Entrez Id: 64805;116931
Gene Symbol: P2RY12;MED12L
P2RY12;MED12L
CUI: C1853278
Disease:
Bleeding Disorder Due To P2RY12 Defect 		0.800 GeneticVariation UNIPROT Identification of a new dysfunctional platelet P2Y12 receptor variant associated with bleeding diathesis. 25428217 2015
dbSNP: rs121917885
rs121917885
Entrez Id: 64805;116931
Gene Symbol: P2RY12;MED12L
P2RY12;MED12L
CUI: C1853278
Disease:
Bleeding Disorder Due To P2RY12 Defect 		0.800 GeneticVariation UNIPROT Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding. 12578987 2003
dbSNP: rs121917885
rs121917885
Entrez Id: 64805;116931
Gene Symbol: P2RY12;MED12L
P2RY12;MED12L
CUI: C1853278
Disease:
Bleeding Disorder Due To P2RY12 Defect 		0.800 GeneticVariation UNIPROT Identification of the platelet ADP receptor targeted by antithrombotic drugs. 11196645 2001
dbSNP: rs121917885
rs121917885
Entrez Id: 64805;116931
Gene Symbol: P2RY12;MED12L
P2RY12;MED12L
CUI: C1853278
Disease:
Bleeding Disorder Due To P2RY12 Defect 		T 0.800 CausalMutation CLINVAR