NPR2, natriuretic peptide receptor 2, 4882

N. diseases: 122; N. variants: 30
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777597
rs587777597
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C4014690
Disease:
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.800 GeneticVariation UNIPROT Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene. 24259409 2014
dbSNP: rs587777597
rs587777597
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C4014690
Disease:
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.800 GeneticVariation UNIPROT An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities. 24057292 2013
dbSNP: rs587777597
rs587777597
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C4014690
Disease:
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.800 GeneticVariation UNIPROT A human skeletal overgrowth mutation increases maximal velocity and blocks desensitization of guanylyl cyclase-B. 23827346 2013
dbSNP: rs587777597
rs587777597
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C4014690
Disease:
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.800 GeneticVariation UNIPROT An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene. 22870295 2012
dbSNP: rs587777597
rs587777597
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C4014690
Disease:
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		C 0.800 CausalMutation CLINVAR