rs587777893, MTOR

N. diseases: 67
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
FOCAL CORTICAL DYSPLASIA OF TAYLOR
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
0.800 GeneticVariation UNIPROT Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 27830187 2016
FOCAL CORTICAL DYSPLASIA OF TAYLOR
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
0.800 CausalMutation CLINVAR
Vertebral arch anomaly
CUI: C1835764
Disease: Vertebral arch anomaly
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Pointed chin
CUI: C1844505
Disease: Pointed chin
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Wide anterior fontanel
CUI: C1866134
Disease: Wide anterior fontanel
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Hyperextensibility at elbow
CUI: C4023808
Disease: Hyperextensibility at elbow
0.700 CausalMutation CLINVAR
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
Irregular hyperpigmentation
CUI: C1860236
Disease: Irregular hyperpigmentation
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Myopia
CUI: C0027092
Disease: Myopia
0.700 CausalMutation CLINVAR
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
0.700 CausalMutation CLINVAR
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
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
Premature birth following premature rupture of fetal membranes
CUI: C1851833
Disease: Premature birth following premature rupture of fetal membranes
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
Hypopigmentation disorder
CUI: C0162835
Disease: Hypopigmentation disorder
0.700 CausalMutation CLINVAR
Optic Disk Drusen
CUI: C0029128
Disease: Optic Disk Drusen
0.700 CausalMutation CLINVAR
Tapering fingers (finding)
CUI: C0426886
Disease: Tapering fingers (finding)
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia 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
Severe expressive language delay
CUI: C1851085
Disease: Severe expressive language delay
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
EEG with generalized slow activity
CUI: C4021217
Disease: EEG with generalized slow activity
0.700 CausalMutation CLINVAR
Absent speech
CUI: C1854882
Disease: Absent speech
0.700 CausalMutation CLINVAR