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: C0557874
Disease: Global developmental delay
Global developmental delay
1825 553 1200 0.43 10 1.4E-02
CUI: C0036572
Disease: Seizures
Seizures
2152 553 1067 0.33 17 2.4E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly
1064 27 705 0.28 3 1.6E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism
1261 77 717 0.26 2 8.5E-03
CUI: C0349588
Disease: Short stature
Short stature
1127 292 675 0.26 3 6.7E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
967 579 634 0.25 7 9.6E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
955 164 629 0.25 4 1.3E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1010 0 637 0.25 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
505 98 501 0.23 63 0.32
CUI: C0028738
Disease: Nystagmus
Nystagmus
833 95 534 0.22 1 4.0E-03
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
779 0 513 0.21 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
779 0 513 0.21 0 0
CUI: C0038379
Disease: Strabismus
Strabismus
716 89 497 0.21 2 8.1E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
850 0 500 0.20 0 0
CUI: C0004134
Disease: Ataxia
Ataxia
868 68 468 0.18 2 8.9E-03
Delayed speech and language development
560 192 417 0.18 2 5.7E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
1112 395 498 0.18 10 1.8E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
725 0 430 0.17 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
842 0 445 0.17 0 0
CUI: C0086543
Disease: Cataract
Cataract
878 0 447 0.17 0 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
1630 348 543 0.17 6 1.2E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 77 384 0.16 2 8.5E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy
1215 339 471 0.16 23 4.8E-02
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
1098 73 451 0.16 5 2.2E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment
740 337 395 0.16 3 6.1E-03