DisGeNET - a database of gene-disease associations

PPP2R5D, protein phosphatase 2 regulatory subunit B'delta, 5528

N. diseases: 33; N. variants: 7

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:

rs863225079

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C4225354
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 35

0.800

GeneticVariation

UNIPROT

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

26168268

2015

dbSNP:

rs863225079

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C4225354
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 35

0.800

GeneticVariation

UNIPROT

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs863225082

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C4225354
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 35

0.800

GeneticVariation

UNIPROT

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs863225082

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C4225354
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 35

0.800

CausalMutation

CLINVAR

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

26168268

2015

dbSNP:

rs863225082

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C4225354
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 35

0.800

GeneticVariation

UNIPROT

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

26168268

2015

dbSNP:

rs863225082

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C4225354
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 35

0.800

CausalMutation

CLINVAR

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

25972378

2015

dbSNP:

rs869320691

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C4225354
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 35

0.800

GeneticVariation

UNIPROT

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

26168268

2015

dbSNP:

rs869320691

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C4225354
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 35

0.800

GeneticVariation

UNIPROT

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs876657383

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C4225354
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 35

0.800

GeneticVariation

UNIPROT

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs876657383

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C4225354
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 35

0.800

GeneticVariation

UNIPROT

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

26168268

2015

dbSNP:

rs863225079

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C4225354
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 35

0.800

CausalMutation

CLINVAR

dbSNP:

rs869320691

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C4225354
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 35

0.800

CausalMutation

CLINVAR

dbSNP:

rs876657383

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C4225354
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 35

0.800

CausalMutation

CLINVAR

dbSNP:

rs863225080

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

26576547

2016

dbSNP:

rs863225082

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

26576547

2016

dbSNP:

rs863225082

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

26576547

2016

dbSNP:

rs863225080

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

26168268

2015

dbSNP:

rs863225080

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs863225080

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

25972378

2015

dbSNP:

rs863225082

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

25972378

2015

dbSNP:

rs863225082

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

26168268

2015

dbSNP:

rs863225082

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

25972378

2015

dbSNP:

rs863225082

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

26168268

2015

dbSNP:

rs863225082

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs863225082

Entrez Id:	4201;5528
Gene Symbol:	MEA1;PPP2R5D

MEA1;PPP2R5D

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015