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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 270 0.22 21 4.9E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 280 0.19 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 251 0.19 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 242 0.19 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 242 0.19 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 294 0.19 6 9.6E-03
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 312 0.18 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 387 0.18 9 1.0E-02
CUI: C0086543
Disease: Cataract
Cataract 		878 0 242 0.18 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 230 0.17 1 2.1E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 190 0.17 1 2.5E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 206 0.16 3 7.1E-03
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 190 0.16 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 240 0.16 7 7.7E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 395 0.16 3 6.1E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 173 0.15 3 7.8E-03
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 170 0.15 3 7.8E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 171 0.15 3 7.3E-03
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 147 0.14 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 158 168 0.14 1 2.0E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 181 0.14 1 2.4E-03
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 194 0.14 0 0
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		163 66 110 0.14 13 3.3E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 219 0.14 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 188 0.13 1 2.5E-03