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: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 1 1.8E-03 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 1 1.8E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 1.8E-03 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		103 0 1 1.8E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 1.8E-03 0 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 0 1 1.8E-03 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 1 1.9E-03 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 1 1.9E-03 0 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		93 0 1 1.9E-03 0 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 0 1 1.9E-03 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 1 1.9E-03 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 6 1 1.9E-03 1 5.5E-03
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		87 0 1 1.9E-03 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 1 1.9E-03 0 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		87 0 1 1.9E-03 0 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		86 7 1 1.9E-03 1 5.5E-03
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 0 1 1.9E-03 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 1 1.9E-03 0 0
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		85 0 1 1.9E-03 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 0 1 1.9E-03 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 1 1.9E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 1 1.9E-03 0 0
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		82 19 1 1.9E-03 1 5.2E-03
CUI: C0231835
Disease: Tachypnea
Tachypnea 		82 0 1 1.9E-03 0 0
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		82 0 1 1.9E-03 0 0