DisGeNET - a database of gene-disease associations

HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME, C4693578

Variant: rs869320802 ×

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:

rs869320802

rs869320802

CTBP1 ; CTBP1-AS

A

0.800

CausalMutation

CLINVAR

dbSNP:

rs869320802

rs869320802

CTBP1 ; CTBP1-AS

0.800

GeneticVariation

UNIPROT