DisGeNET - a database of gene-disease associations

PPP1CB, protein phosphatase 1 catalytic subunit beta, 5500

N. diseases: 105; N. variants: 10

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:

rs1114167429

Entrez Id:	5500
Gene Symbol:	PPP1CB

PPP1CB

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

30368668

2019

dbSNP:

rs886037952

Entrez Id:	5500
Gene Symbol:	PPP1CB

PPP1CB

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

30368668

2019

dbSNP:

rs886037954

Entrez Id:	5500;245711
Gene Symbol:	PPP1CB;SPDYA

PPP1CB;SPDYA

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

30368668

2019

dbSNP:

rs886037955

Entrez Id:	5500;245711
Gene Symbol:	PPP1CB;SPDYA

PPP1CB;SPDYA

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

30368668

2019

dbSNP:

rs1114167429

Entrez Id:	5500
Gene Symbol:	PPP1CB

PPP1CB

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.

27868344

2017

dbSNP:

rs1114167429

Entrez Id:	5500
Gene Symbol:	PPP1CB

PPP1CB

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

28211982

2017

dbSNP:

rs886037952

Entrez Id:	5500
Gene Symbol:	PPP1CB

PPP1CB

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

28211982

2017

dbSNP:

rs886037952

Entrez Id:	5500
Gene Symbol:	PPP1CB

PPP1CB

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.

27868344

2017

dbSNP:

rs886037954

Entrez Id:	5500;245711
Gene Symbol:	PPP1CB;SPDYA

PPP1CB;SPDYA

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.

27868344

2017

dbSNP:

rs886037954

Entrez Id:	5500;245711
Gene Symbol:	PPP1CB;SPDYA

PPP1CB;SPDYA

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

28211982

2017

dbSNP:

rs886037955

Entrez Id:	5500;245711
Gene Symbol:	PPP1CB;SPDYA

PPP1CB;SPDYA

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

28211982

2017

dbSNP:

rs886037955

Entrez Id:	5500;245711
Gene Symbol:	PPP1CB;SPDYA

PPP1CB;SPDYA

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.

27868344

2017

dbSNP:

rs1114167429

Entrez Id:	5500
Gene Symbol:	PPP1CB

PPP1CB

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

27264673

2016

dbSNP:

rs1114167429

Entrez Id:	5500
Gene Symbol:	PPP1CB

PPP1CB

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

27681385

2016

dbSNP:

rs886037952

Entrez Id:	5500
Gene Symbol:	PPP1CB

PPP1CB

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

27681385

2016

dbSNP:

rs886037952

Entrez Id:	5500
Gene Symbol:	PPP1CB

PPP1CB

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

27264673

2016

dbSNP:

rs886037954

Entrez Id:	5500;245711
Gene Symbol:	PPP1CB;SPDYA

PPP1CB;SPDYA

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

27681385

2016

dbSNP:

rs886037954

Entrez Id:	5500;245711
Gene Symbol:	PPP1CB;SPDYA

PPP1CB;SPDYA

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

27264673

2016

dbSNP:

rs886037955

Entrez Id:	5500;245711
Gene Symbol:	PPP1CB;SPDYA

PPP1CB;SPDYA

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

27264673

2016

dbSNP:

rs886037955

Entrez Id:	5500;245711
Gene Symbol:	PPP1CB;SPDYA

PPP1CB;SPDYA

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

GeneticVariation

UNIPROT

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

27681385

2016

dbSNP:

rs1114167429

Entrez Id:	5500
Gene Symbol:	PPP1CB

PPP1CB

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs886037952

Entrez Id:	5500
Gene Symbol:	PPP1CB

PPP1CB

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs886037954

Entrez Id:	5500;245711
Gene Symbol:	PPP1CB;SPDYA

PPP1CB;SPDYA

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs886037954

Entrez Id:	5500;245711
Gene Symbol:	PPP1CB;SPDYA

PPP1CB;SPDYA

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs886037955

Entrez Id:	5500;245711
Gene Symbol:	PPP1CB;SPDYA

PPP1CB;SPDYA

CUI:	C4479577
Disease:

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2

0.800

CausalMutation

CLINVAR