Source: ALL
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: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		2 6 2 1.00 1 0.12
CUI: C0030446
Disease: Paralytic Ileus
Paralytic Ileus 		4 0 1 0.20 0 0
CUI: C4024612
Disease: Tibialis muscle weakness
Tibialis muscle weakness 		5 0 1 0.17 0 0
CUI: C4024946
Disease: Focal white matter lesions
Focal white matter lesions 		14 0 1 6.7E-02 0 0
CUI: C1849148
Disease: Decreased sensory nerve conduction velocity
Decreased sensory nerve conduction velocity 		15 0 1 6.2E-02 0 0
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		28 0 1 3.4E-02 0 0
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		29 0 1 3.3E-02 0 0
CUI: C0041466
Disease: Typhoid Fever
Typhoid Fever 		31 0 1 3.1E-02 0 0
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		31 0 1 3.1E-02 0 0
CUI: C3714524
Disease: Fibromyxosarcoma
Fibromyxosarcoma 		33 0 1 2.9E-02 0 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 0 1 2.3E-02 0 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		43 0 1 2.3E-02 0 0
CUI: C1443924
Disease: Severe diarrhea
Severe diarrhea 		47 0 1 2.1E-02 0 0
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		51 0 1 1.9E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 131 2 1.9E-02 1 7.5E-03
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 1 1.9E-02 0 0
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		59 0 1 1.7E-02 0 0
CUI: C0009024
Disease: Clonus
Clonus 		60 0 1 1.6E-02 0 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		70 0 1 1.4E-02 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		144 93 2 1.4E-02 1 1.1E-02
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		75 0 1 1.3E-02 0 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		86 0 1 1.1E-02 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 1.1E-02 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 2 1.1E-02 1 7.8E-03
CUI: C0017160
Disease: Gastroenteritis
Gastroenteritis 		94 0 1 1.1E-02 0 0