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 1061 0.36 144 0.15
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
2165 159 1067 0.33 17 2.4E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy
1215 339 712 0.27 52 6.2E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
967 579 633 0.25 54 5.0E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
955 164 613 0.25 42 6.2E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly
1064 27 623 0.24 2 3.5E-03
CUI: C0004134
Disease: Ataxia
Ataxia
868 68 551 0.22 8 1.3E-02
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
1630 348 674 0.22 24 2.7E-02
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
1719 297 637 0.20 15 1.8E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism
1261 77 556 0.19 2 3.2E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus
833 95 484 0.19 19 3.0E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
2872 2897 809 0.19 17 5.0E-03
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
1263 112 537 0.19 9 1.4E-02
CUI: C0349588
Disease: Short stature
Short stature
1127 292 514 0.19 33 4.1E-02
CUI: C0038379
Disease: Strabismus
Strabismus
716 89 449 0.19 31 5.1E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
842 0 468 0.19 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
779 0 449 0.18 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
779 0 449 0.18 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1010 0 482 0.18 0 0
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
3397 1843 843 0.18 19 8.0E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
1112 395 487 0.18 32 3.5E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
2803 824 734 0.17 11 8.1E-03
CUI: C0028754
Disease: Obesity
Obesity
2821 1111 734 0.17 11 6.7E-03
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
1515 85 540 0.17 4 6.3E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
2078 990 619 0.17 11 7.2E-03