rs587777893, MTOR

N. diseases: 67
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Abnormal cortical gyration
CUI: C1856019
Disease: Abnormal cortical gyration
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Absent speech
CUI: C1854882
Disease: Absent speech
0.700 CausalMutation CLINVAR
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 CausalMutation CLINVAR
Alternating Exotropia
CUI: C0152207
Disease: Alternating Exotropia
0.700 CausalMutation CLINVAR
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Aqueductal Stenosis
CUI: C2936786
Disease: Aqueductal Stenosis
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Calcaneovalgus deformity
CUI: C1860450
Disease: Calcaneovalgus deformity
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Cervical spinal canal stenosis
CUI: C1844925
Disease: Cervical spinal canal stenosis
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Communicating Hydrocephalus
CUI: C0009451
Disease: Communicating Hydrocephalus
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Constipation
CUI: C0009806
Disease: Constipation
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
0.700 CausalMutation CLINVAR
Delayed ability to sit
CUI: C4476710
Disease: Delayed ability to sit
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Delayed ability to stand
CUI: C4476709
Disease: Delayed ability to stand
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Delayed fine motor development
CUI: C4023681
Disease: Delayed fine motor development
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Dysgenesis of corpus callosum
CUI: C0431369
Disease: Dysgenesis of corpus callosum
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Ectopic Tissue
CUI: C0008519
Disease: Ectopic Tissue
0.700 CausalMutation CLINVAR
EEG with generalized slow activity
CUI: C4021217
Disease: EEG with generalized slow activity
0.700 CausalMutation CLINVAR
Extra-axial cerebrospinal fluid accumulation
CUI: C4022871
Disease: Extra-axial cerebrospinal fluid accumulation
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
FOCAL CORTICAL DYSPLASIA OF TAYLOR
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
0.800 CausalMutation CLINVAR
FOCAL CORTICAL DYSPLASIA OF TAYLOR
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
0.800 GeneticVariation UNIPROT Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. 26018084 2015
FOCAL CORTICAL DYSPLASIA OF TAYLOR
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
0.800 GeneticVariation UNIPROT Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. 25799227 2015
FOCAL CORTICAL DYSPLASIA OF TAYLOR
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
0.800 GeneticVariation UNIPROT Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. 25878179 2015