DisGeNET - a database of gene-disease associations

CHD7, chromodomain helicase DNA binding protein 7, 55636

N. diseases: 419; N. variants: 247

Disease: Mild hearing impairment ×

Variant: rs387906271 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387906271

rs387906271

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C4022758
Disease:

Mild hearing impairment

C

0.700

CausalMutation

CLINVAR