rs587777893, MTOR

N. diseases: 67
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Linear hyperpigmentation
CUI: C3278658
Disease: Linear hyperpigmentation
2 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Macrocephaly at birth
CUI: C1836599
Disease: Macrocephaly at birth
6 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Malformations of Cortical Development, Group II
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
101 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Morphological abnormality of the central nervous system
CUI: C4021765
Disease: Morphological abnormality of the central nervous system
7 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Neuronal heterotopia
CUI: C0266491
Disease: Neuronal heterotopia
3 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Pointed chin
CUI: C1844505
Disease: Pointed chin
13 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Premature birth following premature rupture of fetal membranes
CUI: C1851833
Disease: Premature birth following premature rupture of fetal membranes
4 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Severe expressive language delay
CUI: C1851085
Disease: Severe expressive language delay
7 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Severe receptive language delay
CUI: C3532947
Disease: Severe receptive language delay
4 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Small labia majora
CUI: C0566899
Disease: Small labia majora
3 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Tapering fingers (finding)
CUI: C0426886
Disease: Tapering fingers (finding)
19 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Vertebral arch anomaly
CUI: C1835764
Disease: Vertebral arch anomaly
1 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Wide anterior fontanel
CUI: C1866134
Disease: Wide anterior fontanel
5 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Alternating Exotropia
CUI: C0152207
Disease: Alternating Exotropia
1 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Ectopic Tissue
CUI: C0008519
Disease: Ectopic Tissue
4 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
EEG with generalized slow activity
CUI: C4021217
Disease: EEG with generalized slow activity
6 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Hyperextensibility at elbow
CUI: C4023808
Disease: Hyperextensibility at elbow
7 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0