Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0878575
Disease: Peripheral demyelination
Peripheral demyelination
27 3 1 4.0E-03 2 0.25
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception
15 3 1 4.1E-03 2 0.25
CUI: C3150620
Disease: Distal upper limb muscle weakness
Distal upper limb muscle weakness
13 3 2 8.4E-03 2 0.25
CUI: C0003079
Disease: Anisocoria
Anisocoria
7 5 1 4.3E-03 2 0.20
CUI: C0030196
Disease: Pain in limb
Pain in limb
16 5 2 8.3E-03 2 0.20
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot
51 5 2 7.2E-03 2 0.20
CUI: C0020580
Disease: Hypesthesia
Hypesthesia
33 6 4 1.6E-02 2 0.18
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense
33 8 2 7.8E-03 2 0.15
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy
29 8 1 3.9E-03 2 0.15
CUI: C0037763
Disease: Spasm
Spasm
172 9 3 7.6E-03 2 0.14
Ichthyosis follicularis with alopecia and photophobia (IFAP)
2 1 1 4.4E-03 1 0.14
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs
19 1 1 4.1E-03 1 0.14
CUI: C1836835
Disease: Hyporeflexia of upper limbs
Hyporeflexia of upper limbs
5 1 1 4.3E-03 1 0.14
CUI: C1837650
Disease: Lack of spontaneous play
Lack of spontaneous play
5 1 1 4.3E-03 1 0.14
CUI: C1856477
Disease: Slowed horizontal saccades
Slowed horizontal saccades
3 1 2 8.8E-03 1 0.14
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
1 1 1 4.4E-03 1 0.14
CUI: C3552821
Disease: EEG with photoparoxysmal response
EEG with photoparoxysmal response
3 1 1 4.4E-03 1 0.14
CUI: C4531223
Disease: Ichthyosis follicularis
Ichthyosis follicularis
3 1 2 8.8E-03 1 0.14
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness
49 11 4 1.5E-02 2 0.12
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
306 12 10 1.9E-02 2 0.12
CUI: C1849683
Disease: No social interaction
No social interaction
5 3 1 4.3E-03 1 0.11
Abnormality of mitochondrial metabolism
21 3 1 4.0E-03 1 0.11
CUI: C0040264
Disease: Tinnitus
Tinnitus
103 14 5 1.5E-02 2 0.11
CUI: C0241237
Disease: Difficulty standing
Difficulty standing
21 14 1 4.0E-03 2 0.11
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
116 15 4 1.2E-02 2 1.0E-01