DisGeNET - a database of gene-disease associations

PPP2R1A, protein phosphatase 2 scaffold subunit Aalpha, 5518

N. diseases: 104; N. variants: 8

Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 ×

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:

rs863225094

Entrez Id:	5518
Gene Symbol:	PPP2R1A

PPP2R1A

CUI:	C4225352
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 36

0.800

GeneticVariation

UNIPROT

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

25533962

2015

dbSNP:

rs863225094

Entrez Id:	5518
Gene Symbol:	PPP2R1A

PPP2R1A

CUI:	C4225352
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 36

0.800

GeneticVariation

UNIPROT

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

26168268

2015

dbSNP:

rs786205227

Entrez Id:	5518
Gene Symbol:	PPP2R1A

PPP2R1A

CUI:	C4225352
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 36

0.800

GeneticVariation

CLINVAR

dbSNP:

rs786205227

Entrez Id:	5518
Gene Symbol:	PPP2R1A

PPP2R1A

CUI:	C4225352
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 36

0.800

GeneticVariation

UNIPROT

dbSNP:

rs786205227

Entrez Id:	5518
Gene Symbol:	PPP2R1A

PPP2R1A

CUI:	C4225352
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 36

0.800

CausalMutation

CLINVAR

dbSNP:

rs786205228

Entrez Id:	5518
Gene Symbol:	PPP2R1A

PPP2R1A

CUI:	C4225352
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 36

0.800

CausalMutation

CLINVAR

dbSNP:

rs786205228

Entrez Id:	5518
Gene Symbol:	PPP2R1A

PPP2R1A

CUI:	C4225352
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 36

0.800

GeneticVariation

UNIPROT

dbSNP:

rs863225094

Entrez Id:	5518
Gene Symbol:	PPP2R1A

PPP2R1A

CUI:	C4225352
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 36

0.800

CausalMutation

CLINVAR

dbSNP:

rs1057519946

Entrez Id:	5518
Gene Symbol:	PPP2R1A

PPP2R1A

CUI:	C4225352
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 36

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1555791268

Entrez Id:	5518
Gene Symbol:	PPP2R1A

PPP2R1A

CUI:	C4225352
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 36

0.700

GeneticVariation

CLINVAR