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 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 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 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
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
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
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
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
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
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
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
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
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Hyperpigmentation
CUI: C0162834
Disease: Hyperpigmentation
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Irregular hyperpigmentation of back
CUI: C4024854
Disease: Irregular hyperpigmentation of back
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Premature Birth
CUI: C0151526
Disease: Premature Birth
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016