DisGeNET - a database of gene-disease associations

Mental Retardation, Autosomal Dominant 1, C1969562

Variant: rs1553517991 ×

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:

rs1553517991

MBD5

0.700

CausalMutation

CLINVAR

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

23587880

2014

dbSNP:

rs1553517991

MBD5

0.700

CausalMutation

CLINVAR

Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

23422940

2013