DisGeNET - a database of gene-disease associations

Source: ALL

Disease: SMITH-KINGSMORE SYNDROME ×

Variant: rs869312666 ×

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:

rs869312666

MTOR

CUI:	C4225259
Disease:	SMITH-KINGSMORE SYNDROME

SMITH-KINGSMORE SYNDROME

0.800

GeneticVariation

UNIPROT

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.

27830187

2016

dbSNP:

rs869312666

MTOR

CUI:	C4225259
Disease:	SMITH-KINGSMORE SYNDROME

SMITH-KINGSMORE SYNDROME

0.800

GeneticVariation

UNIPROT

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.

26542245

2015

dbSNP:

rs869312666

MTOR

CUI:	C4225259
Disease:	SMITH-KINGSMORE SYNDROME

SMITH-KINGSMORE SYNDROME

0.800

GeneticVariation

UNIPROT

A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.

25851998

2015

dbSNP:

rs869312666

MTOR

CUI:	C4225259
Disease:	SMITH-KINGSMORE SYNDROME

SMITH-KINGSMORE SYNDROME

0.800

CausalMutation

CLINVAR