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: rs398124465
rs398124465
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		C 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
dbSNP: rs398124465
rs398124465
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		C 0.700 CausalMutation CLINVAR NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. 15318302 2004