NPR2, natriuretic peptide receptor 2, 4882

N. diseases: 122; N. variants: 30
Disease: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225399
Disease: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 		0.600 GeneticVariation disease UNIPROT Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature. 24471569 2014
CUI: C4225399
Disease: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 		0.600 GeneticVariation disease UNIPROT Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature. 24001744 2013
CUI: C4225399
Disease: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 		0.600 CausalMutation disease CLINVAR
CUI: C4225399
Disease: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 		0.600 Biomarker disease GENOMICS_ENGLAND