DisGeNET - a database of gene-disease associations

HOLOPROSENCEPHALY 5, C1864827

Variant: rs756225250 ×

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:

rs756225250

ZIC2

AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG

0.700

CausalMutation

CLINVAR

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

19955556

2010

dbSNP:

rs756225250

ZIC2

AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG

0.700

CausalMutation

CLINVAR

In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.

15590697

2005

dbSNP:

rs756225250

ZIC2

AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG

0.700

CausalMutation

CLINVAR

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

11285244

2001

dbSNP:

rs756225250

ZIC2

AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG

0.700

CausalMutation

CLINVAR

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.

9771712

1998