NPR2, natriuretic peptide receptor 2, 4882

N. diseases: 122; N. variants: 30
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.710 GeneticVariation disease BEFREE Activating mutations in NPRB cause a skeletal overgrowth disorder, which has been named epiphyseal chondrodysplasia, Miura type (ECDM; OMIM #615923). 30544148 2019
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.710 GeneticVariation disease UNIPROT Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene. 24259409 2014
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.710 GeneticVariation disease CLINVAR A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type. 23065701 2013
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.710 GeneticVariation disease UNIPROT An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities. 24057292 2013
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.710 GeneticVariation disease UNIPROT A human skeletal overgrowth mutation increases maximal velocity and blocks desensitization of guanylyl cyclase-B. 23827346 2013
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.710 GermlineCausalMutation disease ORPHANET 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
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.710 GeneticVariation disease 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
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.710 GeneticVariation disease CLINVAR Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. 15146390 2004
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.710 CausalMutation disease CLINVAR
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.710 Biomarker disease CTD_human