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
2165 159 1200 0.43 10 1.4E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
955 164 751 0.37 65 1.0E-01
CUI: C0036572
Disease: Seizures
Seizures
2152 553 1061 0.36 144 0.15
CUI: C0025958
Disease: Microcephaly
Microcephaly
1064 27 735 0.34 3 5.2E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
967 579 677 0.32 88 8.4E-02
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
584 68 575 0.31 40 6.9E-02
CUI: C0349588
Disease: Short stature
Short stature
1127 292 659 0.29 66 8.5E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism
1261 77 683 0.28 6 9.6E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1010 0 620 0.28 0 0
CUI: C0038379
Disease: Strabismus
Strabismus
716 89 521 0.26 40 6.6E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
842 0 517 0.24 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
833 95 510 0.24 33 5.4E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
779 0 485 0.23 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
779 0 485 0.23 0 0
CUI: C0004134
Disease: Ataxia
Ataxia
868 68 490 0.22 8 1.3E-02
Delayed speech and language development
560 192 431 0.22 81 0.12
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
850 135 481 0.22 25 3.8E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
595 57 406 0.20 15 2.5E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 77 403 0.20 24 4.0E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
429 74 368 0.20 13 2.1E-02
CUI: C0033377
Disease: Ptosis
Ptosis
607 12 395 0.19 2 3.6E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
473 62 369 0.19 28 4.8E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism
586 53 381 0.19 23 3.9E-02
CUI: C0239234
Disease: Low set ears
Low set ears
489 64 352 0.18 17 2.8E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
725 80 387 0.18 18 2.9E-02