DisGeNET - a database of gene-disease associations

Mental Retardation, X-Linked 19, C0796225

Gene: RPS6KA3 ×

Source: UNIPROT ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs122454129

RPS6KA3

0.800

GeneticVariation

UNIPROT

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

17100996

2006

dbSNP:

rs387906703

RPS6KA3

0.800

GeneticVariation

UNIPROT

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

17100996

2006

dbSNP:

rs122454129

RPS6KA3

0.800

GeneticVariation

UNIPROT

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation.

10319851

1999

dbSNP:

rs387906703

RPS6KA3

0.800

GeneticVariation

UNIPROT

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation.

10319851

1999