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: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		A 0.800 CausalMutation CLINVAR

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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		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: 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: 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: C1837397
Disease: Severe global developmental delay
Severe global developmental 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: C4476709
Disease: Delayed ability to stand
Delayed ability to stand 		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: C3532947
Disease: Severe receptive language delay
Severe receptive 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: C1860450
Disease: Calcaneovalgus deformity
Calcaneovalgus deformity 		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: C4476710
Disease: Delayed ability to sit
Delayed ability to sit 		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: C3278658
Disease: Linear hyperpigmentation
Linear 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: C0239234
Disease: Low set ears
Low set ears 		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: 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: C1837658
Disease: Gross motor development delay
Gross motor development 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: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		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: 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: 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