NPR2, natriuretic peptide receptor 2, 4882

N. diseases: 122; N. variants: 30
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1563993649
rs1563993649
Entrez Id: 4882;26206
Gene Symbol: NPR2;SPAG8
NPR2;SPAG8
CUI: C1864356
Disease:
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		T 0.700 GeneticVariation CLINVAR Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. 15146390 2004