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: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		44 35 12 0.22 3 8.6E-02
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		17 0 6 0.18 0 0
CUI: C0268559
Disease: Hyperglycinemia
Hyperglycinemia 		14 0 5 0.16 0 0
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		33 4 7 0.14 2 0.40
CUI: C1848579
Disease: Decreased methylmalonyl-CoA mutase activity
Decreased methylmalonyl-CoA mutase activity 		5 0 3 0.12 0 0
CUI: C1848556
Disease: Decreased adenosylcobalamin
Decreased adenosylcobalamin 		7 0 3 0.11 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		13 0 3 9.1E-02 0 0
CUI: C0154246
Disease: Urea Cycle Disorders, Inborn
Urea Cycle Disorders, Inborn 		14 0 3 8.8E-02 0 0
CUI: C4749367
Disease: Mesial temporal lobe epilepsy with hippocampal sclerosis
Mesial temporal lobe epilepsy with hippocampal sclerosis 		14 0 3 8.8E-02 0 0
CUI: C0342720
Disease: Adenosylcobalamin synthesis defect
Adenosylcobalamin synthesis defect 		2 0 2 8.7E-02 0 0
CUI: C0679424
Disease: iron loading anemia
iron loading anemia 		2 0 2 8.7E-02 0 0
CUI: C1272348
Disease: Disorder of vitamin B12
Disorder of vitamin B12 		2 0 2 8.7E-02 0 0
CUI: C3854422
Disease: Root canal infection
Root canal infection 		2 0 2 8.7E-02 0 0
CUI: C0263949
Disease: Proliferative synovitis
Proliferative synovitis 		3 0 2 8.3E-02 0 0
CUI: C0341052
Disease: Chronic sialadenitis
Chronic sialadenitis 		3 0 2 8.3E-02 0 0
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		3 169 2 8.3E-02 3 1.8E-02
CUI: C2939127
Disease: Indolent ulcer
Indolent ulcer 		3 0 2 8.3E-02 0 0
CUI: C1266177
Disease: Dysembryoplastic neuroepithelial tumor
Dysembryoplastic neuroepithelial tumor 		17 0 3 8.1E-02 0 0
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		17 0 3 8.1E-02 0 0
CUI: C0002992
Disease: Angiomatosis
Angiomatosis 		4 0 2 8.0E-02 0 0
CUI: C0206114
Disease: Periodontal Attachment Loss
Periodontal Attachment Loss 		4 0 2 8.0E-02 0 0
CUI: C0333040
Disease: Fungus ball
Fungus ball 		4 0 2 8.0E-02 0 0
CUI: C0340354
Disease: Q fever endocarditis
Q fever endocarditis 		4 0 2 8.0E-02 0 0
CUI: C0554021
Disease: Recurrent mouth ulcers
Recurrent mouth ulcers 		4 0 2 8.0E-02 0 0
CUI: C0751615
Disease: Intracranial Arachnoid Cysts
Intracranial Arachnoid Cysts 		4 0 2 8.0E-02 0 0