DisGeNET - a database of gene-disease associations

Cornelia de Lange Syndrome 1, C4551851

Variant: rs587784012 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587784012

NIPBL

0.700

CausalMutation

CLINVAR

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

17221863

2007

dbSNP:

rs587784012

NIPBL

0.700

CausalMutation

CLINVAR

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.

17661813

2007

dbSNP:

rs587784012

NIPBL

0.700

CausalMutation

CLINVAR

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

15318302

2004

dbSNP:

rs587784012

NIPBL

0.700

GeneticVariation

CLINVAR