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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 351 0.17 8 1.3E-02
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 115 0.17 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 121 0.16 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 119 0.16 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 100 0.16 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 7 107 0.16 1 1.8E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 137 0.15 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 141 0.15 1 9.6E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 136 0.15 2 1.4E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 359 0.15 1 4.8E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 355 0.15 6 1.0E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 170 0.15 3 7.8E-03
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 114 0.15 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 84 0.15 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 202 0.15 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 94 0.15 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 111 0.15 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 128 0.14 1 1.1E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 211 0.14 2 5.9E-03
CUI: C0017601
Disease: Glaucoma
Glaucoma 		770 198 166 0.14 2 8.1E-03
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 83 0.14 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 97 0.14 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 67 107 0.14 7 6.3E-02
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 99 0.13 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 214 0.13 2 1.6E-02