DisGeNET - a database of gene-disease associations

CHARGE Syndrome, C0265354

Variant: rs587783458 ×

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:

rs587783458

CHD7

0.700

CausalMutation

CLINVAR

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.

26663670

2016

dbSNP:

rs587783458

CHD7

0.700

CausalMutation

CLINVAR

Mutation update on the CHD7 gene involved in CHARGE syndrome.

22461308

2012

dbSNP:

rs587783458

CHD7

0.700

CausalMutation

CLINVAR

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

16400610

2006