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 553 109 5.0E-02 6 1.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 105 5.6E-02 1 1.7E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 1644 101 9.9E-03 1 6.0E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 93 4.2E-02 2 1.1E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 1641 88 1.0E-02 1 6.0E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 1374 86 1.0E-02 1 7.1E-04
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 85 6.6E-02 5 1.4E-02
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		93 39 82 0.51 17 0.34
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 81 7.2E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 3417 80 1.1E-02 1 2.9E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 2793 79 1.2E-02 1 3.5E-04
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		2872 2897 73 2.5E-02 2 6.8E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 70 6.7E-02 3 5.0E-03
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 68 7.4E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 65 6.3E-02 0 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		5725 942 65 1.1E-02 1 1.0E-03
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 63 9.4E-03 0 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		5473 1962 62 1.1E-02 1 5.0E-04
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 0 61 5.1E-02 0 0
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 60 9.3E-03 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 60 0.11 1 1.1E-02
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 112 59 4.4E-02 1 7.2E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 58 0.21 4 2.7E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 58 0.14 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 57 8.5E-02 0 0