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: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		0 14 0 0 1 6.2E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 1 1.4E-04 0 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 1 1.5E-04 0 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 1 1.5E-04 0 0
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		3134 0 1 3.2E-04 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 1 4.6E-04 1 1.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 1 5.5E-04 0 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		1760 0 1 5.7E-04 0 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 0 1 6.1E-04 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 1 8.2E-04 1 2.9E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		1075 0 1 9.3E-04 0 0
CUI: C0003467
Disease: Anxiety
Anxiety 		1048 0 1 9.5E-04 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 1 1.0E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 1 1.0E-03 0 0
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		939 584 1 1.1E-03 1 1.7E-03
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		925 0 1 1.1E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 1 1.2E-03 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 1 1.7E-03 0 0
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		559 0 1 1.8E-03 0 0
CUI: C0040822
Disease: Tremor
Tremor 		528 0 1 1.9E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 1 2.1E-03 0 0
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		411 0 1 2.4E-03 0 0
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		384 0 1 2.6E-03 0 0
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		354 33 1 2.8E-03 1 2.9E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 1 3.0E-03 0 0