DisGeNET - a database of gene-disease associations

Source: UNIPROT

Gene: MTOR ×

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:

rs1057519914

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

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

27830187

2016

dbSNP:

rs1057519914

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

25878179

2015

dbSNP:

rs1057519914

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

25799227

2015

dbSNP:

rs1057519914

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

26018084

2015

dbSNP:

rs369088781

MTOR

CUI:	C4225259
Disease:	SMITH-KINGSMORE SYNDROME

SMITH-KINGSMORE SYNDROME

0.700

GeneticVariation

UNIPROT

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

27830187

2016

dbSNP:

rs369088781

MTOR

CUI:	C4225259
Disease:	SMITH-KINGSMORE SYNDROME

SMITH-KINGSMORE SYNDROME

0.700

GeneticVariation

UNIPROT

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

26542245

2015

dbSNP:

rs369088781

MTOR

CUI:	C4225259
Disease:	SMITH-KINGSMORE SYNDROME

SMITH-KINGSMORE SYNDROME

0.700

GeneticVariation

UNIPROT

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

25851998

2015

dbSNP:

rs587777895

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

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

27830187

2016

dbSNP:

rs587777895

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

26018084

2015

dbSNP:

rs587777895

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

25799227

2015

dbSNP:

rs587777895

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

25878179

2015

dbSNP:

rs913197212

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

GeneticVariation

UNIPROT