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: C0456909
Disease: Blindness
Blindness 		393 34 190 0.18 3 2.4E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 256 0.18 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 192 0.18 2 1.6E-02
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 173 0.18 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 198 0.18 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 5 158 0.18 2 2.0E-02
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 12 155 0.17 1 9.4E-03
CUI: C0040822
Disease: Tremor
Tremor 		528 52 199 0.17 2 1.4E-02
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 150 0.17 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 225 0.17 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 183 0.16 9 6.1E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 232 0.16 3 1.3E-02
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 10 133 0.16 3 2.9E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 187 0.15 5 3.0E-02
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 162 0.15 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 153 0.15 9 5.4E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 170 0.15 5 3.1E-02
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 67 147 0.15 5 3.2E-02
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 136 0.15 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 180 0.15 3 2.1E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 144 0.14 3 2.6E-02
CUI: C0085636
Disease: Photophobia
Photophobia 		227 7 134 0.14 1 9.9E-03
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 154 0.14 2 1.6E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 156 0.14 2 1.5E-02
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 120 0.14 0 0