DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: CHARGE Syndrome ×

Variant: rs886040995 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs886040995

CHD7

CUI:	C0265354
Disease:	CHARGE Syndrome

CHARGE Syndrome

0.700

CausalMutation

CLINVAR

Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.

27061523

2016

dbSNP:

rs886040995

CHD7

CUI:	C0265354
Disease:	CHARGE Syndrome

CHARGE Syndrome

0.700

CausalMutation

CLINVAR

Mutation update on the CHD7 gene involved in CHARGE syndrome.

22461308

2012

dbSNP:

rs886040995

CHD7

CUI:	C0265354
Disease:	CHARGE Syndrome

CHARGE Syndrome

0.700

CausalMutation

CLINVAR

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

16155193

2006