DisGeNET - a database of gene-disease associations

HES7, hes family bHLH transcription factor 7, 84667

N. diseases: 63; N. variants: 6

Disease: SPONDYLOCOSTAL DYSOSTOSIS 5 ×

Variant: rs113994160 ×

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:

rs113994160

rs113994160

Entrez Id:	84667
Gene Symbol:	HES7

HES7

CUI:	C4083048
Disease:

SPONDYLOCOSTAL DYSOSTOSIS 5

A

0.700

CausalMutation

CLINVAR