DisGeNET - a database of gene-disease associations

CHARGE Syndrome, C0265354

Variant: rs864622523 ×

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:

rs864622523

CHD7

0.700

CausalMutation

CLINVAR

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs864622523

CHD7

0.700

CausalMutation

CLINVAR

Mutation update on the CHD7 gene involved in CHARGE syndrome.

22461308

2012

dbSNP:

rs864622523

CHD7

0.700

GeneticVariation

CLINVAR