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: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 48 3.9E-02 1 2.9E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 44 2.0E-02 2 3.6E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 43 2.0E-02 1 6.0E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 39 3.8E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 39 2.1E-02 3 5.4E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 37 4.3E-03 0 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 37 4.5E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 36 4.0E-02 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 33 0.11 0 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		2872 0 33 1.1E-02 0 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 32 4.8E-03 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 31 6.2E-02 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 31 8.3E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 29 2.9E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 29 2.9E-02 0 0
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		2078 0 28 1.3E-02 0 0
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		1515 0 28 1.8E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 27 2.4E-02 0 0
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		977 0 27 2.6E-02 0 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 0 27 1.6E-02 0 0
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 26 4.0E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 26 3.0E-02 0 0
CUI: C0040822
Disease: Tremor
Tremor 		528 0 26 4.5E-02 0 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 0 26 7.5E-02 0 0
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		1075 0 26 2.3E-02 0 0