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: C1970180
Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		4 0 2 0.50 0 0
CUI: C4755254
Disease: Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Hypomyelination with brain stem and spinal cord involvement and leg spasticity 		1 0 1 0.50 0 0
CUI: C1969084
Disease: Pontocerebellar Hypoplasia Type 6
Pontocerebellar Hypoplasia Type 6 		5 0 2 0.40 0 0
CUI: C1969722
Disease: Impaired pursuit initiation and maintenance
Impaired pursuit initiation and maintenance 		2 0 1 0.33 0 0
CUI: C4023376
Disease: Abnormality of the dorsal column of the spinal cord
Abnormality of the dorsal column of the spinal cord 		2 0 1 0.33 0 0
CUI: C0748903
Disease: spinal cord involvement
spinal cord involvement 		9 0 2 0.22 0 0
CUI: C3278204
Disease: Dysmyelinating leukodystrophy
Dysmyelinating leukodystrophy 		4 0 1 0.20 0 0
CUI: C4025609
Disease: EMG: axonal abnormality
EMG: axonal abnormality 		6 0 1 0.14 0 0
CUI: C4021585
Disease: Impaired distal proprioception
Impaired distal proprioception 		7 0 1 0.12 0 0
CUI: C1836843
Disease: Progressive inability to walk
Progressive inability to walk 		10 0 1 9.1E-02 0 0
CUI: C1836904
Disease: Spastic/hyperactive bladder
Spastic/hyperactive bladder 		10 0 1 9.1E-02 0 0
CUI: C4024610
Disease: Leg muscle stiffness
Leg muscle stiffness 		13 0 1 7.1E-02 0 0
CUI: C4023701
Disease: Impaired visuospatial constructive cognition
Impaired visuospatial constructive cognition 		15 0 1 6.2E-02 0 0
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		19 0 1 5.0E-02 0 0
CUI: C1838114
Disease: Generalized limb muscle atrophy
Generalized limb muscle atrophy 		21 0 1 4.5E-02 0 0
CUI: C3894553
Disease: response to simvastatin
response to simvastatin 		21 0 1 4.5E-02 0 0
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy 		23 0 1 4.2E-02 0 0
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		27 7 1 3.6E-02 1 6.2E-02
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		28 0 1 3.4E-02 0 0
CUI: C1849156
Disease: Spastic Ataxia
Spastic Ataxia 		28 0 1 3.4E-02 0 0
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		29 0 1 3.3E-02 0 0
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		31 0 1 3.1E-02 0 0
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		32 0 1 3.0E-02 0 0
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		35 0 1 2.8E-02 0 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		36 0 1 2.7E-02 0 0