rs587784048, NIPBL

N. diseases: 1
Disease: Cornelia de Lange Syndrome 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cornelia de Lange Syndrome 1
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
0.700 CausalMutation CLINVAR Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. 24038889 2013