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: C1608410
Disease: Head titubation
Head titubation 		7 0 3 0.13 0 0
CUI: C4021585
Disease: Impaired distal proprioception
Impaired distal proprioception 		7 1 3 0.13 1 0.20
CUI: C1969462
Disease: Demyelinating motor neuropathy
Demyelinating motor neuropathy 		2 0 2 0.11 0 0
CUI: C3888962
Disease: POLG mutation
POLG mutation 		3 0 2 1.0E-01 0 0
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		38 6 5 9.6E-02 1 1.0E-01
CUI: C0007795
Disease: Diffuse Cerebral Sclerosis of Schilder
Diffuse Cerebral Sclerosis of Schilder 		4 0 2 9.5E-02 0 0
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 9.5E-02 0 0
CUI: C3278204
Disease: Dysmyelinating leukodystrophy
Dysmyelinating leukodystrophy 		4 0 2 9.5E-02 0 0
CUI: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		27 0 4 9.5E-02 0 0
CUI: C1969084
Disease: Pontocerebellar Hypoplasia Type 6
Pontocerebellar Hypoplasia Type 6 		5 13 2 9.1E-02 2 0.12
CUI: C4025609
Disease: EMG: axonal abnormality
EMG: axonal abnormality 		6 0 2 8.7E-02 0 0
CUI: C4476759
Disease: Stooped posture
Stooped posture 		6 0 2 8.7E-02 0 0
CUI: C0033922
Disease: Psychomotor Disorders
Psychomotor Disorders 		7 0 2 8.3E-02 0 0
CUI: C0424304
Disease: Inappropriate laughter
Inappropriate laughter 		7 0 2 8.3E-02 0 0
CUI: C0751456
Disease: Developmental Psychomotor Disorders
Developmental Psychomotor Disorders 		7 0 2 8.3E-02 0 0
CUI: C1836843
Disease: Progressive inability to walk
Progressive inability to walk 		10 3 2 7.4E-02 1 0.14
CUI: C4274084
Disease: Pelizaeus Merzbacher like disease
Pelizaeus Merzbacher like disease 		10 0 2 7.4E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		11 0 2 7.1E-02 0 0
CUI: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		11 0 2 7.1E-02 0 0
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		43 0 4 6.9E-02 0 0
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		12 0 2 6.9E-02 0 0
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		75 0 6 6.8E-02 0 0
CUI: C0231688
Disease: Gait, Shuffling
Gait, Shuffling 		28 0 3 6.8E-02 0 0
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction 		28 0 3 6.8E-02 0 0
CUI: C1849156
Disease: Spastic Ataxia
Spastic Ataxia 		28 0 3 6.8E-02 0 0