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: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		945 0 4 4.2E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 4 4.1E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 4 1.9E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 4 2.2E-03 0 0
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		3177 0 3 9.4E-04 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 3 8.2E-03 0 0
CUI: C1833429
Disease: D-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria 		5 6 3 0.50 4 0.24
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		6 14 3 0.43 4 0.16
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 3 1.4E-03 0 0
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		377 0 2 5.3E-03 0 0
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		1018 0 2 2.0E-03 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 1641 2 2.3E-04 1 6.0E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		5473 0 2 3.7E-04 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 2 4.4E-03 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 0 2 1.6E-03 0 0
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		1043 0 2 1.9E-03 0 0
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		3865 0 2 5.2E-04 0 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		116 0 2 1.7E-02 0 0
CUI: C0268594
Disease: Glutaric aciduria
Glutaric aciduria 		8 0 2 0.20 0 0
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		108 0 2 1.8E-02 0 0
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		2528 0 2 7.9E-04 0 0
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		2527 0 2 7.9E-04 0 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 0 2 6.6E-03 0 0
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		1515 0 2 1.3E-03 0 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		925 0 2 2.2E-03 0 0