DisGeNET - a database of gene-disease associations

Severe intellectual disability, C0036857

Variant: rs1554150607 ×

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:

rs1554150607

MEF2C

0.700

CausalMutation

CLINVAR

Refining the phenotype associated with MEF2C point mutations.

23001426

2013

dbSNP:

rs1554150607

MEF2C

0.700

CausalMutation

CLINVAR

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

20513142

2010

dbSNP:

rs1554150607

MEF2C

0.700

CausalMutation

CLINVAR

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.

19592390

2010

dbSNP:

rs1554150607

MEF2C

0.700

CausalMutation

CLINVAR

Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.

19876902

2009