DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: CHARGE Syndrome ×

Variant: rs757160222 ×

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:

rs757160222

CHD7

CUI:	C0265354
Disease:	CHARGE Syndrome

CHARGE Syndrome

0.700

CausalMutation

CLINVAR

Mutations in the CHD7 gene: the experience of a commercial laboratory.

21158681

2010

dbSNP:

rs757160222

CHD7

CUI:	C0265354
Disease:	CHARGE Syndrome

CHARGE Syndrome

0.700

CausalMutation

CLINVAR

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

16400610

2006

dbSNP:

rs757160222

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