DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Wieacker-Wolff syndrome ×

Gene: ZC4H2 ×

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:

rs1057520297

ZC4H2

CUI:	C0796200
Disease:	Wieacker-Wolff syndrome

Wieacker-Wolff syndrome

0.800

GeneticVariation

UNIPROT

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

26056227

2015

dbSNP:

rs1057520297

ZC4H2

CUI:	C0796200
Disease:	Wieacker-Wolff syndrome

Wieacker-Wolff syndrome

0.800

GeneticVariation

UNIPROT

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

23623388

2013

dbSNP:

rs1057520299

ZC4H2

CUI:	C0796200
Disease:	Wieacker-Wolff syndrome

Wieacker-Wolff syndrome

0.800

GeneticVariation

UNIPROT

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

26056227

2015

dbSNP:

rs1057520299

ZC4H2

CUI:	C0796200
Disease:	Wieacker-Wolff syndrome

Wieacker-Wolff syndrome

0.800

GeneticVariation

UNIPROT

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

23623388

2013

dbSNP:

rs398122938

ZC4H2

CUI:	C0796200
Disease:	Wieacker-Wolff syndrome

Wieacker-Wolff syndrome

0.800

GeneticVariation

UNIPROT

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

26056227

2015

dbSNP:

rs398122938

ZC4H2

CUI:	C0796200
Disease:	Wieacker-Wolff syndrome

Wieacker-Wolff syndrome

0.800

GeneticVariation

UNIPROT

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

23623388

2013

dbSNP:

rs398122939

ZC4H2

CUI:	C0796200
Disease:	Wieacker-Wolff syndrome

Wieacker-Wolff syndrome

0.800

GeneticVariation

UNIPROT

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

26056227

2015

dbSNP:

rs398122939

ZC4H2

CUI:	C0796200
Disease:	Wieacker-Wolff syndrome

Wieacker-Wolff syndrome

0.800

GeneticVariation

UNIPROT

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

23623388

2013

dbSNP:

rs879255235

ZC4H2

CUI:	C0796200
Disease:	Wieacker-Wolff syndrome

Wieacker-Wolff syndrome

0.800

GeneticVariation

UNIPROT

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

26056227

2015

dbSNP:

rs879255235

ZC4H2

CUI:	C0796200
Disease:	Wieacker-Wolff syndrome

Wieacker-Wolff syndrome

0.800

GeneticVariation

UNIPROT

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

23623388

2013

dbSNP:

rs879255236

ZC4H2

CUI:	C0796200
Disease:	Wieacker-Wolff syndrome

Wieacker-Wolff syndrome

0.800

GeneticVariation

UNIPROT

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

26056227

2015

dbSNP:

rs879255236

ZC4H2

CUI:	C0796200
Disease:	Wieacker-Wolff syndrome

Wieacker-Wolff syndrome

0.800

GeneticVariation

UNIPROT

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

23623388

2013