DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Depressed nasal bridge ×

Gene: MTOR ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2475
Gene Symbol:	MTOR

MTOR

CUI:	C1836542
Disease:	Depressed nasal bridge

Depressed nasal bridge

0.100

CausalMutation

CLINVAR

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

27159400

2016

Entrez Id:	2475
Gene Symbol:	MTOR

MTOR

CUI:	C1836542
Disease:	Depressed nasal bridge

Depressed nasal bridge

0.100

Biomarker

HPO