DisGeNET - a database of gene-disease associations

POGZ, pogo transposable element derived with ZNF domain, 23126

N. diseases: 117; N. variants: 68

Disease: Dysmorphic features ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1313319892

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Pogo transposase contains a putative helix-turn-helix DNA binding domain that recognises a 12 bp sequence within the terminal inverted repeats.

9862965

1999

dbSNP:

rs1553212545

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Pogo transposase contains a putative helix-turn-helix DNA binding domain that recognises a 12 bp sequence within the terminal inverted repeats.

9862965

1999

dbSNP:

rs1553212626

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Pogo transposase contains a putative helix-turn-helix DNA binding domain that recognises a 12 bp sequence within the terminal inverted repeats.

9862965

1999

dbSNP:

rs1553212978

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Pogo transposase contains a putative helix-turn-helix DNA binding domain that recognises a 12 bp sequence within the terminal inverted repeats.

9862965

1999

dbSNP:

rs864321674

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Pogo transposase contains a putative helix-turn-helix DNA binding domain that recognises a 12 bp sequence within the terminal inverted repeats.

9862965

1999

dbSNP:

rs1313319892

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

22495311

2012

dbSNP:

rs1313319892

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

De novo gene disruptions in children on the autistic spectrum.

22542183

2012

dbSNP:

rs1553212545

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

22495311

2012

dbSNP:

rs1553212545

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

De novo gene disruptions in children on the autistic spectrum.

22542183

2012

dbSNP:

rs1553212626

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

22495311

2012

dbSNP:

rs1553212626

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

De novo gene disruptions in children on the autistic spectrum.

22542183

2012

dbSNP:

rs1553212978

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

De novo gene disruptions in children on the autistic spectrum.

22542183

2012

dbSNP:

rs1553212978

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

22495311

2012

dbSNP:

rs864321674

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

De novo gene disruptions in children on the autistic spectrum.

22542183

2012

dbSNP:

rs864321674

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

22495311

2012

dbSNP:

rs1313319892

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

24267886

2013

dbSNP:

rs1313319892

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

23375656

2013

dbSNP:

rs1553212545

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

24267886

2013

dbSNP:

rs1553212545

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

23375656

2013

dbSNP:

rs1553212626

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

24267886

2013

dbSNP:

rs1553212626

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

23375656

2013

dbSNP:

rs1553212978

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

23375656

2013

dbSNP:

rs1553212978

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

24267886

2013

dbSNP:

rs864321674

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

23375656

2013

dbSNP:

rs864321674

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

24267886

2013