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: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 171 0.19 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 252 0.18 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 316 0.18 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 150 0.18 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 153 0.18 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 449 0.18 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 208 0.18 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 189 0.18 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 222 0.17 0 0
CUI: C0040822
Disease: Tremor
Tremor 		528 0 188 0.17 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 132 0.16 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 175 0.16 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 161 0.16 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 221 0.16 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 183 0.15 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 135 0.15 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 133 0.15 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 142 0.15 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 178 0.15 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 166 0.15 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 144 0.15 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 152 0.15 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 118 0.14 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 137 0.14 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 131 0.14 0 0