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: C0878575
Disease: Peripheral demyelination
Peripheral demyelination 		27 0 5 0.13 0 0
CUI: C1854988
Disease: Molybdenum Cofactor Deficiency, Complementation Group A
Molybdenum Cofactor Deficiency, Complementation Group A 		2 0 2 0.12 0 0
CUI: C3810487
Disease: Increased urinary hypoxanthine
Increased urinary hypoxanthine 		2 0 2 0.12 0 0
CUI: C0220988
Disease: Xanthinuria
Xanthinuria 		3 0 2 0.12 0 0
CUI: C1848431
Disease: Xanthine nephrolithiasis
Xanthine nephrolithiasis 		3 0 2 0.12 0 0
CUI: C3806447
Disease: Increased urinary taurine
Increased urinary taurine 		3 0 2 0.12 0 0
CUI: C1832342
Disease: Talipes cavus equinovarus
Talipes cavus equinovarus 		4 0 2 0.11 0 0
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		28 0 4 1.0E-01 0 0
CUI: C1827700
Disease: Luxation of lens
Luxation of lens 		7 0 2 9.5E-02 0 0
CUI: C4021581
Disease: Distal upper limb amyotrophy
Distal upper limb amyotrophy 		8 0 2 9.1E-02 0 0
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy 		21 0 3 8.8E-02 0 0
CUI: C1408182
Disease: Hereditary motor and sensory neuropathy, types I-IV
Hereditary motor and sensory neuropathy, types I-IV 		21 0 3 8.8E-02 0 0
CUI: C2875300
Disease: Peroneal muscular atrophy (axonal type) (hypertrophic type)
Peroneal muscular atrophy (axonal type) (hypertrophic type) 		21 0 3 8.8E-02 0 0
CUI: C3806442
Disease: Myoclonic spasms
Myoclonic spasms 		10 0 2 8.3E-02 0 0
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		26 0 3 7.7E-02 0 0
CUI: C0268119
Disease: Combined molybdoflavoprotein enzyme deficiency
Combined molybdoflavoprotein enzyme deficiency 		13 0 2 7.4E-02 0 0
CUI: C0221333
Disease: Hypouricemia
Hypouricemia 		14 0 2 7.1E-02 0 0
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		14 0 2 7.1E-02 0 0
CUI: C1853171
Disease: Multiple prenatal fractures
Multiple prenatal fractures 		15 0 2 6.9E-02 0 0
CUI: C0234174
Disease: Sucking reflex
Sucking reflex 		1 0 1 6.2E-02 0 0
CUI: C0234966
Disease: Astasia
Astasia 		1 0 1 6.2E-02 0 0
CUI: C0235146
Disease: Euphoric mood
Euphoric mood 		1 0 1 6.2E-02 0 0
CUI: C0422879
Disease: CNS symptom
CNS symptom 		1 0 1 6.2E-02 0 0
CUI: C1291266
Disease: Deficiency of aldehyde oxidase
Deficiency of aldehyde oxidase 		1 0 1 6.2E-02 0 0
CUI: C1739147
Disease: Subacute necrotising encephalomyopathy
Subacute necrotising encephalomyopathy 		1 0 1 6.2E-02 0 0