Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777893
rs587777893
MTOR
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		A 0.800 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 GeneticVariation UNIPROT Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. 26018084

2015
dbSNP: rs587777893
rs587777893
MTOR
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
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
dbSNP: rs587777893
rs587777893
MTOR
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 GeneticVariation UNIPROT Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. 25878179

2015
dbSNP: rs587777893
rs587777893
MTOR
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
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
dbSNP: rs587777893
rs587777893
MTOR
CUI: C1835764
Disease: Vertebral arch anomaly
Vertebral arch anomaly 		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
MTOR
CUI: C1844505
Disease: Pointed chin
Pointed chin 		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
MTOR
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		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
MTOR
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
CUI: C1856019
Disease: Abnormal cortical gyration
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
MTOR
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		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
MTOR
CUI: C0027092
Disease: Myopia
Myopia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		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
MTOR
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
CUI: C4022871
Disease: Extra-axial cerebrospinal fluid accumulation
Extra-axial cerebrospinal fluid accumulation 		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
MTOR
CUI: C1851833
Disease: Premature birth following premature rupture of fetal membranes
Premature birth following premature rupture of fetal membranes 		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
MTOR
CUI: C1844925
Disease: Cervical spinal canal stenosis
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: rs587777893
rs587777893
MTOR
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
CUI: C0029128
Disease: Optic Disk Drusen
Optic Disk Drusen 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		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
MTOR
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		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
MTOR
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		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
MTOR
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
CUI: C1854882
Disease: Absent speech
Absent speech 		A 0.700 CausalMutation CLINVAR