rs119103263, MFN2

N. diseases: 19
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.
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
11 0.827 0.240 1 11992659 missense variant C/T snv 0.800 0
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.827 0.240 1 11992659 missense variant C/T snv 0.700 1.000 10 2004 2016
Abnormal blistering of the skin
CUI: C2132198
Disease: Abnormal blistering of the skin
10 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
Abnormality of dental enamel
CUI: C4021800
Disease: Abnormality of dental enamel
4 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
Abnormality of the dentition
CUI: C0262444
Disease: Abnormality of the dentition
16 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A
CUI: C4310875
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A
4 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
Cicatrization
CUI: C0008767
Disease: Cicatrization
3 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
Distal muscle weakness
CUI: C0427065
Disease: Distal muscle weakness
16 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
Dystrophia unguium
CUI: C0221260
Disease: Dystrophia unguium
9 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
Electromyogram abnormal
CUI: C0476403
Disease: Electromyogram abnormal
12 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
Hyperpigmentation
CUI: C0162834
Disease: Hyperpigmentation
11 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
Loss of scalp hair
CUI: C0574769
Disease: Loss of scalp hair
4 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
Scarring alopecia of scalp
CUI: C3806301
Disease: Scarring alopecia of scalp
3 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
Weight less than 3rd percentile
CUI: C1844806
Disease: Weight less than 3rd percentile
27 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 0.827 0.240 1 11992659 missense variant C/T snv 0.010 1.000 1 2014 2014
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.827 0.240 1 11992659 missense variant C/T snv 0.010 1.000 1 2014 2014