Source: INFERRED ×
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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 6 837 0.45 2 3.9E-03
CUI: C0036572
Disease: Seizures
Seizures 		1292 417 835 0.44 138 0.18
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 714 0.42 65 0.11
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 631 0.38 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 633 0.36 88 8.8E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 13 603 0.32 3 5.8E-03
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 622 0.32 65 8.9E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 587 0.31 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 499 0.30 39 7.1E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		803 83 480 0.27 33 5.9E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		734 0 465 0.27 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 462 0.26 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 462 0.26 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		556 192 409 0.25 81 0.13
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 432 0.24 24 4.0E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		609 17 388 0.23 5 9.7E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 382 0.23 24 4.3E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		574 49 378 0.23 13 2.4E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		558 0 366 0.22 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		459 62 348 0.22 28 5.2E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 47 366 0.22 18 3.4E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		574 52 357 0.21 23 4.3E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 340 0.21 17 3.1E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		508 34 332 0.20 8 1.5E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		413 30 309 0.20 18 3.5E-02