DisGeNET - a database of gene-disease associations

HETEROTAXY, VISCERAL, 1, X-LINKED, C1844020

Variant: rs373628598 ×

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:

rs373628598

ZIC3

0.700

GeneticVariation

UNIPROT

Genetic and functional analyses of ZIC3 variants in congenital heart disease.

24123890

2014

dbSNP:

rs373628598

ZIC3

0.700

GeneticVariation

UNIPROT

Characterization of the interactions of human ZIC3 mutants with GLI3.

17764085

2008

dbSNP:

rs373628598

ZIC3

0.700

GeneticVariation

UNIPROT

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

14681828

2004