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: C0023380
Disease: Lethargy
Lethargy 		160 0 14 6.8E-02 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 7 6.7E-02 0 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		549 0 38 6.7E-02 0 0
CUI: C4755264
Disease: Severe intellectual disability and progressive spastic paraplegia
Severe intellectual disability and progressive spastic paraplegia 		5 0 4 6.7E-02 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 21 6.5E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 29 6.4E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 37 6.3E-02 0 0
CUI: C0037020
Disease: Shyness
Shyness 		9 0 4 6.2E-02 0 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		94 0 9 6.2E-02 0 0
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		43 0 6 6.2E-02 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		9 0 4 6.2E-02 0 0
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction 		28 0 5 6.1E-02 0 0
CUI: C4023698
Disease: Everted upper lip vermilion
Everted upper lip vermilion 		12 0 4 6.0E-02 0 0
CUI: C0454596
Disease: Dysarthria, Spastic
Dysarthria, Spastic 		30 0 5 6.0E-02 0 0
CUI: C1389102
Disease: Atrophy of the spinal cord
Atrophy of the spinal cord 		13 0 4 5.9E-02 0 0
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		32 5 5 5.8E-02 1 0.20
CUI: C0747251
Disease: Progressive spastic paraparesis
Progressive spastic paraparesis 		14 0 4 5.8E-02 0 0
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		33 0 5 5.7E-02 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 0 32 5.6E-02 0 0
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		74 0 7 5.6E-02 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 6 5.4E-02 0 0
CUI: C0751603
Disease: Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Hereditary Spastic Paraplegia 		20 0 4 5.3E-02 0 0
CUI: C0085606
Disease: Urgency of micturition
Urgency of micturition 		40 1 5 5.3E-02 1 1.00
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		21 0 4 5.3E-02 0 0
CUI: C1846566
Disease: Degeneration of the lateral corticospinal tracts
Degeneration of the lateral corticospinal tracts 		21 0 4 5.3E-02 0 0