DisGeNET - a database of gene-disease associations

Barakat syndrome, C1840333

Variant: rs104894163 ×

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:

rs104894163

GATA3

0.800

GeneticVariation

UNIPROT

A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome.

26514990

2015

dbSNP:

rs104894163

GATA3

0.800

GeneticVariation

UNIPROT

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.

11389161

2001

dbSNP:

rs104894163

GATA3

0.800

GeneticVariation

UNIPROT

GATA3 haplo-insufficiency causes human HDR syndrome.

10935639

2000

dbSNP:

rs104894163

GATA3

0.800

CausalMutation

CLINVAR