NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 225; N. variants: 270
Disease: Cornelia de Lange Syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554017345
rs1554017345
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		T 0.700 CausalMutation CLINVAR