Gene: MTOR

Alternate names for this Gene: FRAP|FRAP1|FRAP2|RAFT1|RAPT1|SKS

Gene Summary: The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.22

Description of this Gene: mechanistic target of rapamycin kinase

Type of Gene: protein-coding

rs587777893 in MTOR gene and Abnormal cortical gyration PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Anteverted nostril PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Aqueductal Stenosis PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs2300092 in MTOR gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs587777893 in MTOR gene and Calcaneovalgus deformity PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Cervical spinal canal stenosis PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs1057519917 in MTOR gene and Colorectal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs587777893 in MTOR gene and Communicating Hydrocephalus PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Constipation PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs12139042 in MTOR gene and Corneal Topography PMID 24963161 2014 CMPK1 and RBP3 are associated with corneal curvature in Asian populations.

PMID 21665993 2011 Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore.

rs1057519917 in MTOR gene and Cutaneous Melanoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs587777893 in MTOR gene and Delayed ability to sit PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Delayed ability to stand PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Delayed fine motor development PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Delayed speech and language development PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Depressed nasal bridge PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Dilated ventricles (finding) PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Dysgenesis of corpus callosum PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Extra-axial cerebrospinal fluid accumulation PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs1057519914 in MTOR gene and FOCAL CORTICAL DYSPLASIA OF TAYLOR PMID 25878179 2015 Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

PMID 27830187 2016 Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.

PMID 25799227 2015 Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

PMID 26018084 2015 Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

rs1057519915 in MTOR gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs587777893 in MTOR gene and Generalized hypotonia PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Gestational Diabetes PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs1057519913 in MTOR gene and Glioblastoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs587777893 in MTOR gene and Gross motor development delay PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Hyperpigmentation PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Hyperpigmented streaks PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Hypoplasia of corpus callosum PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Irregular hyperpigmentation PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Irregular hyperpigmentation of back PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Large head (disorder) PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Linear hyperpigmentation PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Low set ears PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Macrocephaly at birth PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Malformations of Cortical Development, Group II PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs1057519915 in MTOR gene and Malignant Uterine Corpus Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519913 in MTOR gene and Mammary Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs587777893 in MTOR gene and Morphological abnormality of the central nervous system PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Neuronal heterotopia PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs1057519917 in MTOR gene and Papillary renal cell carcinoma, sporadic PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs587777893 in MTOR gene and Pointed chin PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Polymicrogyria PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Premature Birth PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Premature birth following premature rupture of fetal membranes PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs1057519913 in MTOR gene and Renal Cell Carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519777 in MTOR gene and Renal carcinoma PMID 24631838 2014 A diverse array of cancer-associated MTOR mutations are hyperactivating and can predict rapamycin sensitivity.

PMID 24622468 2014 Tumor genetic analyses of patients with metastatic renal cell carcinoma and extended benefit from mTOR inhibitor therapy.

rs369088781 in MTOR gene and SMITH-KINGSMORE SYNDROME PMID 27830187 2016 Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.

PMID 25851998 2015 A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.

PMID 26542245 2015 Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.

rs587777893 in MTOR gene and Severe expressive language delay PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Severe global developmental delay PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Severe receptive language delay PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Small labia majora PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Tapering fingers (finding) PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs1057519780 in MTOR gene and Transitional cell carcinoma of bladder PMID 24625776 2014 Activating mTOR mutations in a patient with an extraordinary response on a phase I trial of everolimus and pazopanib.

rs1057519917 in MTOR gene and Uterine Cervical Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs587777893 in MTOR gene and Vertebral arch anomaly PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs587777893 in MTOR gene and Wide anterior fontanel PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.