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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 144 6.6E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 129 5.9E-02 10 1.8E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 123 6.5E-02 5 8.8E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 108 1.2E-02 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 108 1.1E-02 0 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 105 1.3E-02 0 0
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 112 82 6.0E-02 1 7.5E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 81 0.12 6 2.9E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 80 7.6E-02 7 3.9E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 79 7.4E-02 2 3.3E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 75 6.4E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 74 1.1E-02 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 0 74 5.6E-02 0 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		2872 0 74 2.5E-02 0 0
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 0 71 1.1E-02 0 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 71 1.0E-02 0 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 71 1.1E-02 0 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		5725 0 71 1.2E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 70 5.7E-02 8 2.0E-02
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 0 66 3.8E-02 0 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		5473 0 63 1.1E-02 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 63 4.6E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 63 5.1E-02 1 3.2E-03
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 62 9.5E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 61 7.3E-02 0 0