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: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 117 1.1E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 117 6.2E-02 2 3.5E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 112 5.0E-02 2 3.5E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 106 1.2E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 106 0.12 2 1.7E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 105 1.3E-02 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 101 0.12 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 101 0.12 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 92 9.5E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 91 1.3E-02 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 89 0.31 0 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 85 1.2E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 84 7.8E-02 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 81 8.5E-02 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 79 0.11 1 1.4E-02
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 77 1.1E-02 0 0
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		2803 0 76 2.6E-02 0 0
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 0 76 1.2E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 76 7.1E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 75 0.13 1 8.1E-03
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 74 0.11 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 74 3.2E-02 0 0
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 73 1.1E-02 0 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		5725 0 72 1.2E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 71 0.12 1 1.3E-02