DisGeNET - a database of gene-disease associations

PDE6B, phosphodiesterase 6B, 5158

N. diseases: 64; N. variants: 37

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:

rs121918581

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C3151107
Disease:

RETINITIS PIGMENTOSA 40 (disorder)

0.800

GeneticVariation

UNIPROT

Next-generation genetic testing for retinitis pigmentosa.

22334370

2012

dbSNP:

rs121918581

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C3151107
Disease:

RETINITIS PIGMENTOSA 40 (disorder)

0.800

GeneticVariation

UNIPROT

A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa.

9543643

1998

dbSNP:

rs121918581

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C3151107
Disease:

RETINITIS PIGMENTOSA 40 (disorder)

0.800

GeneticVariation

UNIPROT

Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.

8956055

1996

dbSNP:

rs121918581

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C3151107
Disease:

RETINITIS PIGMENTOSA 40 (disorder)

0.800

GeneticVariation

UNIPROT

Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa.

8698075

1996

dbSNP:

rs121918581

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C3151107
Disease:

RETINITIS PIGMENTOSA 40 (disorder)

0.800

GeneticVariation

UNIPROT

A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family.

8557257

1996

dbSNP:

rs121918581

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C3151107
Disease:

RETINITIS PIGMENTOSA 40 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.

8595886

1995

dbSNP:

rs121918582

Entrez Id:	5158;101928521
Gene Symbol:	PDE6B;PDE6B-AS1

PDE6B;PDE6B-AS1

CUI:	C1876182
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2

0.800

GeneticVariation

UNIPROT

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.

8075643

1994

dbSNP:

rs121918581

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C3151107
Disease:

RETINITIS PIGMENTOSA 40 (disorder)

0.800

GeneticVariation

UNIPROT

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.

8394174

1993

dbSNP:

rs121918581

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C3151107
Disease:

RETINITIS PIGMENTOSA 40 (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs121918582

Entrez Id:	5158;101928521
Gene Symbol:	PDE6B;PDE6B-AS1

PDE6B;PDE6B-AS1

CUI:	C1876182
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs370898371

Entrez Id:	5158;101928521
Gene Symbol:	PDE6B;PDE6B-AS1

PDE6B;PDE6B-AS1

CUI:	C0035334
Disease:

Retinitis Pigmentosa

0.700

GeneticVariation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

dbSNP:

rs527236091

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C0035334
Disease:

Retinitis Pigmentosa

0.700

GeneticVariation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

dbSNP:

rs727504075

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C0035334
Disease:

Retinitis Pigmentosa

0.700

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

dbSNP:

rs869312177

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C0035334
Disease:

Retinitis Pigmentosa

TCTGGG

0.700

GeneticVariation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

dbSNP:

rs758052437

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C3151107
Disease:

RETINITIS PIGMENTOSA 40 (disorder)

0.700

GeneticVariation

CLINVAR

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

26872967

2016

dbSNP:

rs869312177

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C3151107
Disease:

RETINITIS PIGMENTOSA 40 (disorder)

TCTGGG

0.700

GeneticVariation

CLINVAR

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

26872967

2016

dbSNP:

rs201541131

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C0035334
Disease:

Retinitis Pigmentosa

0.700

GeneticVariation

CLINVAR

Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.

25823529

2015

dbSNP:

rs35476224

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C0037369
Disease:

Smoking

0.700

GeneticVariation

GWASCAT

Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

26053186

2015

dbSNP:

rs35476224

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C1519383
Disease:

Smoking Behaviors

0.700

GeneticVariation

GWASCAT

Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

26053186

2015

dbSNP:

rs555600300

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C0035334
Disease:

Retinitis Pigmentosa

0.700

GeneticVariation

CLINVAR

NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

26667666

2015

dbSNP:

rs863223339

Entrez Id:	5158;101928521
Gene Symbol:	PDE6B;PDE6B-AS1

PDE6B;PDE6B-AS1

CUI:	C0035334
Disease:

Retinitis Pigmentosa

0.700

CausalMutation

CLINVAR

Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

26497376

2015

dbSNP:

rs727504075

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C0035334
Disease:

Retinitis Pigmentosa

0.700

CausalMutation

CLINVAR

Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

25097241

2014

dbSNP:

rs144590560

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C3151107
Disease:

RETINITIS PIGMENTOSA 40 (disorder)

0.700

GeneticVariation

UNIPROT

Next-generation genetic testing for retinitis pigmentosa.

22334370

2012

dbSNP:

rs370898371

Entrez Id:	5158;101928521
Gene Symbol:	PDE6B;PDE6B-AS1

PDE6B;PDE6B-AS1

CUI:	C0035334
Disease:

Retinitis Pigmentosa

0.700

GeneticVariation

CLINVAR

Next-generation genetic testing for retinitis pigmentosa.

22334370

2012

dbSNP:

rs555600300

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

CUI:	C3151107
Disease:

RETINITIS PIGMENTOSA 40 (disorder)

0.700

GeneticVariation

UNIPROT

Next-generation genetic testing for retinitis pigmentosa.

22334370

2012