DisGeNET - a database of gene-disease associations

PDE4D, phosphodiesterase 4D, 5144

N. diseases: 210; N. variants: 68

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:

rs397514464

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

23033274

2013

dbSNP:

rs397514465

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

23033274

2013

dbSNP:

rs397514466

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

23033274

2013

dbSNP:

rs397514467

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

23033274

2013

dbSNP:

rs397514468

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

23033274

2013

dbSNP:

rs397514469

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

23033274

2013

dbSNP:

rs397515433

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

23033274

2013

dbSNP:

rs587777188

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

23033274

2013

dbSNP:

rs17444059

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C2699541
Disease:

Cytokine Measurement

0.800

GeneticVariation

GWASDB

Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.

22610502

2012

dbSNP:

rs17444059

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C2699541
Disease:

Cytokine Measurement

0.800

GeneticVariation

GWASCAT

Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.

22610502

2012

dbSNP:

rs397514464

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies PDE4D mutations in acrodysostosis.

22464252

2012

dbSNP:

rs397514464

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

23043190

2012

dbSNP:

rs397514464

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

22464250

2012

dbSNP:

rs397514465

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

23043190

2012

dbSNP:

rs397514465

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies PDE4D mutations in acrodysostosis.

22464252

2012

dbSNP:

rs397514465

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

22464250

2012

dbSNP:

rs397514466

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

22464250

2012

dbSNP:

rs397514466

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies PDE4D mutations in acrodysostosis.

22464252

2012

dbSNP:

rs397514466

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

23043190

2012

dbSNP:

rs397514467

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies PDE4D mutations in acrodysostosis.

22464252

2012

dbSNP:

rs397514467

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

22464250

2012

dbSNP:

rs397514467

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

23043190

2012

dbSNP:

rs397514468

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

22464250

2012

dbSNP:

rs397514468

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies PDE4D mutations in acrodysostosis.

22464252

2012

dbSNP:

rs397514468

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

CUI:	C3553250
Disease:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

0.800

GeneticVariation

UNIPROT

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

23043190

2012