rs587783968, 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 A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome. 26701315 2016
Cornelia de Lange Syndrome 1
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
0.700 CausalMutation CLINVAR Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome. 26925417 2016