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: C0004134
Disease: Ataxia
Ataxia 		868 0 46 5.2E-02 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 38 3.7E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 38 2.1E-02 1 1.8E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 37 1.7E-02 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 0 36 2.9E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 33 3.3E-02 0 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 0 33 2.0E-02 0 0
CUI: C0040822
Disease: Tremor
Tremor 		528 0 31 5.6E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 31 3.2E-02 1 6.0E-03
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		86 0 30 0.26 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 30 1.4E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 29 4.2E-03 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 29 3.4E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 29 3.4E-02 0 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 29 3.5E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 28 3.5E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 28 3.5E-02 0 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 27 4.0E-03 0 0
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		1719 0 26 1.5E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 26 5.0E-02 0 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		2872 0 26 9.0E-03 0 0
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		3397 0 25 7.3E-03 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 0 25 5.3E-02 0 0
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		2078 0 25 1.2E-02 0 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 25 3.8E-03 0 0