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 CausalMutation CLINVAR
Hyperextensibility at elbow
CUI: C4023808
Disease: Hyperextensibility at elbow
0.700 CausalMutation CLINVAR
Myopia
CUI: C0027092
Disease: Myopia
0.700 CausalMutation CLINVAR
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
0.700 CausalMutation CLINVAR
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
0.700 CausalMutation CLINVAR
Hypopigmentation disorder
CUI: C0162835
Disease: Hypopigmentation disorder
0.700 CausalMutation CLINVAR
Optic Disk Drusen
CUI: C0029128
Disease: Optic Disk Drusen
0.700 CausalMutation CLINVAR
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
Macular hypopigmented whorls, streaks, and patches
CUI: C3806616
Disease: Macular hypopigmented whorls, streaks, and patches
0.700 CausalMutation CLINVAR
Profound global developmental delay
CUI: C3553450
Disease: Profound global developmental delay
0.700 CausalMutation CLINVAR
MEGALENCEPHALY, AUTOSOMAL DOMINANT
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
0.700 CausalMutation CLINVAR
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
0.700 CausalMutation CLINVAR
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
0.700 CausalMutation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR
Hyperextensibility at wrists
CUI: C1850853
Disease: Hyperextensibility at wrists
0.700 CausalMutation CLINVAR
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
0.700 CausalMutation CLINVAR
Irritation - emotion
CUI: C2700617
Disease: Irritation - emotion
0.700 CausalMutation CLINVAR
Alternating Exotropia
CUI: C0152207
Disease: Alternating Exotropia
0.700 CausalMutation CLINVAR
Ectopic Tissue
CUI: C0008519
Disease: Ectopic Tissue
0.700 CausalMutation CLINVAR
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 CausalMutation CLINVAR
No social interaction
CUI: C1849683
Disease: No social interaction
0.700 CausalMutation CLINVAR
Salaam Seizures
CUI: C1527366
Disease: Salaam Seizures
0.700 CausalMutation CLINVAR
Hyperpigmented/hypopigmented macules
CUI: C4024877
Disease: Hyperpigmented/hypopigmented macules
0.700 CausalMutation CLINVAR
Long narrow head
CUI: C0221358
Disease: Long narrow head
0.700 CausalMutation CLINVAR