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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 131 7.1E-02 12 2.1E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 118 5.4E-02 14 2.5E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 102 4.6E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 90 8.0E-02 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 86 8.4E-03 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 75 0.11 4 5.8E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 73 8.4E-03 0 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 73 8.8E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 70 0.12 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 69 7.5E-02 4 3.4E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 68 0.14 5 7.2E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 66 0.12 8 7.0E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 66 6.3E-02 3 1.6E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 62 9.8E-02 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 61 0.11 3 3.6E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 61 7.0E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 61 7.0E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 60 5.6E-02 3 5.0E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 58 8.2E-03 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 56 4.1E-02 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 56 5.9E-02 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 56 0.10 1 1.5E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 56 4.6E-02 6 1.9E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 55 5.7E-02 1 1.1E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 55 7.9E-02 2 2.5E-02