MTOR

mechanistic target of rapamycin kinase

5 disorders 2 causative 2 no genetic record 1 untyped 1p36.22 gene with protein product

HGNC:3942 Monarch NCBI Gene 2475 ENSG00000198793 UniProt P42345 OMIM 601231

Previous symbols: FRAP, FRAP2, FRAP1. Aliases: mTOR, RAFT1, RAPT1, FLJ44809.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Focal Cortical Dysplasia Type II	causative somatic
Hemimegalencephaly	causative somatic	mechanism: Postzygotic Somatic Variant in the PI3K-AKT3-mTOR Pathway
Central Nervous System Germ Cell Tumor	untyped Recurrent somatic PI3K-pathway point mutation somatic	mechanism: Recurrent AKT-mTOR Signaling Alterations
Hepatocellular Carcinoma	no genetic record	discussion: (unnamed)
Long-Olsen-Distelmaier Syndrome	no genetic record	mechanism: Amino-Acid-Insensitive mTORC1 Signaling

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes MONDO:0100283	AD	Definitive 2021-07-29	no dismech entry

Mechanism modules · computed from kb/

mtorc1_hyperactivation via Long-Olsen-Distelmaier Syndrome
pi3k_akt_mtor_cortical_overgrowth named in the module itself

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.