MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 68; N. variants: 36
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1856019
Disease:
Abnormal cortical gyration 		A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
dbSNP: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1854882
Disease:
Absent speech 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4317146
Disease:
Acid reflux 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0152207
Disease:
Alternating Exotropia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1840077
Disease:
Anteverted nostril 		A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
dbSNP: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C2936786
Disease:
Aqueductal Stenosis 		A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
dbSNP: rs869312671
rs869312671
Entrez Id: 2475;100873935
Gene Symbol: MTOR;MTOR-AS1
MTOR;MTOR-AS1
CUI: C0856975
Disease:
Autistic behavior 		T 0.700 CausalMutation CLINVAR
dbSNP: rs2300092
rs2300092
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11581010
rs11581010
Entrez Id: 2475;106479804
Gene Symbol: MTOR;RNU6-537P
MTOR;RNU6-537P
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs2791643
rs2791643
Entrez Id: 2475;100873935
Gene Symbol: MTOR;MTOR-AS1
MTOR;MTOR-AS1
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1860450
Disease:
Calcaneovalgus deformity 		A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
dbSNP: rs878855328
rs878855328
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C3887548
Disease:
Central Apnea 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1844925
Disease:
Cervical spinal canal stenosis 		A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
dbSNP: rs1057519917
rs1057519917
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0009404
Disease:
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs587777894
rs587777894
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0009404
Disease:
Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs587777894
rs587777894
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0009404
Disease:
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0009451
Disease:
Communicating Hydrocephalus 		A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
dbSNP: rs869312666
rs869312666
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0266617
Disease:
Congenital anomaly of face 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0009806
Disease:
Constipation 		A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
dbSNP: rs17036350
rs17036350
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0524957
Disease:
Corneal Topography 		T 0.800 GeneticVariation GWASDB Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore. 21665993 2011
dbSNP: rs17036350
rs17036350
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0524957
Disease:
Corneal Topography 		T 0.800 GeneticVariation GWASCAT Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore. 21665993 2011
dbSNP: rs74225573
rs74225573
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0524957
Disease:
Corneal Topography 		C 0.800 GeneticVariation GWASCAT CMPK1 and RBP3 are associated with corneal curvature in Asian populations. 24963161 2014
dbSNP: rs74225573
rs74225573
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0524957
Disease:
Corneal Topography 		C 0.800 GeneticVariation GWASDB CMPK1 and RBP3 are associated with corneal curvature in Asian populations. 24963161 2014
dbSNP: rs12139042
rs12139042
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0524957
Disease:
Corneal Topography 		A 0.700 GeneticVariation GWASDB CMPK1 and RBP3 are associated with corneal curvature in Asian populations. 24963161 2014
dbSNP: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4048268
Disease:
Cortical visual impairment 		A 0.700 CausalMutation CLINVAR