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: C0036572
Disease: Seizures
Seizures 		2152 553 154 7.0E-02 18 2.7E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 149 8.0E-02 8 1.2E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 135 6.1E-02 3 1.1E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 120 9.4E-02 10 2.2E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 108 0.10 5 1.8E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 100 0.18 2 1.1E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 99 8.6E-02 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 98 9.6E-03 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 88 0.20 2 9.8E-03
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 87 0.24 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 85 9.7E-03 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 83 0.12 2 1.2E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 83 1.0E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 80 6.6E-02 3 5.8E-03
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 77 7.9E-02 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 76 0.13 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 75 7.9E-02 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 75 0.13 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 73 1.0E-02 0 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		2872 0 72 2.4E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 71 0.11 1 3.2E-03
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		533 0 70 0.11 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 70 0.26 0 0
CUI: C0040822
Disease: Tremor
Tremor 		528 52 69 0.11 1 5.6E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 69 0.12 0 0