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: C0814144
Disease: endocrine system cancer
endocrine system cancer 		0 1 0 0 1 0.50
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 1 1.9E-03 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 0 1 2.0E-03 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 1 2.0E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 1 2.1E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 2.1E-03 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 1 2.1E-03 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 1 2.1E-03 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 1 2.2E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 2.2E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 2.2E-03 0 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		127 0 1 2.2E-03 0 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		123 0 1 2.3E-03 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 1 2.3E-03 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 1 2.3E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 2.3E-03 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 1 2.3E-03 0 0
CUI: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive 		104 0 1 2.4E-03 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 1 2.4E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 2.4E-03 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 1 2.4E-03 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 1 2.4E-03 0 0
CUI: C0566620
Disease: Nasal voice
Nasal voice 		93 0 1 2.4E-03 0 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		93 0 1 2.4E-03 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 1 2.4E-03 0 0