Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		0.010 GeneticVariation BEFREE We describe a three-generation family with tall stature, scoliosis and macrodactyly of the great toes and a heterozygous p.Val883Met mutation in Npr2, the gene that encodes the CNP receptor NPR2 (natriuretic peptide receptor 2). 22870295

2012