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: C4025566
Disease: Muscle abnormality related to mitochondrial dysfunction
Muscle abnormality related to mitochondrial dysfunction 		5 0 4 0.12 0 0
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		38 6 7 0.11 1 8.3E-02
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		39 4 7 0.11 1 1.0E-01
CUI: C1854372
Disease: Impaired vibration sensation at ankles
Impaired vibration sensation at ankles 		9 0 4 0.11 0 0
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		32 5 6 0.11 2 0.20
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		26 0 5 9.6E-02 0 0
CUI: C0231687
Disease: Spastic gait
Spastic gait 		62 0 8 9.4E-02 0 0
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		16 0 4 9.3E-02 0 0
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs 		16 0 4 9.3E-02 0 0
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		16 6 4 9.3E-02 1 8.3E-02
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		75 0 9 9.3E-02 0 0
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		28 0 5 9.3E-02 0 0
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		43 0 6 8.8E-02 0 0
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		48 11 6 8.2E-02 1 5.9E-02
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 4 7.3E-02 0 0
CUI: C0239831
Disease: Hand muscle weakness
Hand muscle weakness 		14 0 3 7.1E-02 0 0
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		74 0 7 7.1E-02 0 0
CUI: C0234378
Disease: Static Tremor
Static Tremor 		62 0 6 6.9E-02 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		144 0 11 6.7E-02 0 0
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		68 0 6 6.5E-02 0 0
CUI: C1853247
Disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		2 0 2 6.5E-02 0 0
CUI: C4524082
Disease: Segawa syndrome
Segawa syndrome 		2 0 2 6.5E-02 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 17 12 6.3E-02 1 4.3E-02
CUI: C0542223
Disease: Loss of speech
Loss of speech 		37 8 4 6.2E-02 1 7.1E-02
CUI: C0751603
Disease: Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Hereditary Spastic Paraplegia 		20 0 3 6.2E-02 0 0