DisGeNET - a database of gene-disease associations

Coffin-Lowry syndrome, C0265252

Variant: rs122454131 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs122454131

RPS6KA3

0.810

GeneticVariation

UNIPROT

Cardiomyopathy in Coffin-Lowry syndrome.

15214012

2004

dbSNP:

rs122454131

RPS6KA3

0.810

GeneticVariation

UNIPROT

Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.

14986828

2003

dbSNP:

rs122454131

RPS6KA3

0.810

GeneticVariation

BEFREE

Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.

14986828

2003

dbSNP:

rs122454131

RPS6KA3

0.810

GeneticVariation

UNIPROT

Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).

10094187

1999

dbSNP:

rs122454131

RPS6KA3

0.810

GeneticVariation

UNIPROT

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.

10528858

1999

dbSNP:

rs122454131

RPS6KA3

0.810

GeneticVariation

UNIPROT

Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.

9837815

1998

dbSNP:

rs122454131

RPS6KA3

0.810

GeneticVariation

UNIPROT

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.

8955270

1996

dbSNP:

rs122454131

RPS6KA3

0.810

CausalMutation

CLINVAR