Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (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: 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: 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: 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: C0162834
Disease: Hyperpigmentation
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: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		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: C4024877
Disease: Hyperpigmented/hypopigmented macules
Hyperpigmented/hypopigmented macules 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
CUI: C1840077
Disease: Anteverted nostril
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
MTOR
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		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: C0566899
Disease: Small labia majora
Small labia majora 		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: C4021765
Disease: Morphological abnormality of the central nervous system
Morphological abnormality of the central nervous system 		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: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis 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: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		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: C1854882
Disease: Absent speech
Absent speech 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
CUI: C2936786
Disease: Aqueductal Stenosis
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: rs587777893
rs587777893
MTOR
CUI: C0009806
Disease: Constipation
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: rs587777893
rs587777893
MTOR
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
CUI: C1849683
Disease: No social interaction
No social interaction 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		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: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		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: C4317146
Disease: Acid reflux
Acid reflux 		A 0.700 CausalMutation CLINVAR