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: C1836646
Disease: Dermal translucency
Dermal translucency 		10 0 1 9.1E-02 0 0
CUI: C1836843
Disease: Progressive inability to walk
Progressive inability to walk 		10 0 1 9.1E-02 0 0
CUI: C1863749
Disease: Carpal bone hypoplasia
Carpal bone hypoplasia 		10 0 1 9.1E-02 0 0
CUI: C0234517
Disease: Anarthria speech disorder
Anarthria speech disorder 		11 0 1 8.3E-02 0 0
CUI: C1837761
Disease: Narrow nasal ridge
Narrow nasal ridge 		11 0 2 0.18 0 0
CUI: C0037301
Disease: Skin Wrinkling
Skin Wrinkling 		12 0 1 7.7E-02 0 0
CUI: C0003742
Disease: Arcus Senilis
Arcus Senilis 		13 0 1 7.1E-02 0 0
CUI: C1389102
Disease: Atrophy of the spinal cord
Atrophy of the spinal cord 		13 0 1 7.1E-02 0 0
CUI: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies 		13 0 1 7.1E-02 0 0
CUI: C2931356
Disease: Spastic paraplegia type 5A, recessive
Spastic paraplegia type 5A, recessive 		13 0 1 7.1E-02 0 0
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		14 0 1 6.7E-02 0 0
CUI: C0422895
Disease: Primitive reflex
Primitive reflex 		14 0 1 6.7E-02 0 0
CUI: C1838319
Disease: Primitive reflexes (palmomental, snout, glabellar)
Primitive reflexes (palmomental, snout, glabellar) 		14 0 1 6.7E-02 0 0
CUI: C0393556
Disease: Complicated hereditary spastic paraplegia
Complicated hereditary spastic paraplegia 		16 0 1 5.9E-02 0 0
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs 		16 0 1 5.9E-02 0 0
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies 		16 0 1 5.9E-02 0 0
CUI: C0080274
Disease: Urinary Retention
Urinary Retention 		17 0 1 5.6E-02 0 0
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		17 0 1 5.6E-02 0 0
CUI: C3665335
Disease: Cutis laxa, autosomal recessive
Cutis laxa, autosomal recessive 		17 1 2 0.12 1 0.17
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		18 0 1 5.3E-02 0 0
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		19 0 1 5.0E-02 0 0
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		20 0 1 4.8E-02 0 0
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
Abnormal upper motor neuron morphology 		20 0 1 4.8E-02 0 0
CUI: C0431370
Disease: Atrophy of corpus callosum
Atrophy of corpus callosum 		21 0 1 4.5E-02 0 0
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		21 0 1 4.5E-02 0 0