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: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		33 4 32 0.71 4 0.11
CUI: C0276096
Disease: Mastitis-metritis-agalactia syndrome
Mastitis-metritis-agalactia syndrome 		23 3 12 0.22 3 8.6E-02
CUI: C1848556
Disease: Decreased adenosylcobalamin
Decreased adenosylcobalamin 		7 0 7 0.16 0 0
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		29 0 10 0.16 0 0
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia 		11 0 7 0.15 0 0
CUI: C1848579
Disease: Decreased methylmalonyl-CoA mutase activity
Decreased methylmalonyl-CoA mutase activity 		5 0 5 0.11 0 0
CUI: C1848580
Disease: Decreased methionine synthase activity
Decreased methionine synthase activity 		6 0 5 0.11 0 0
CUI: C4021736
Disease: Decreased methylcobalamin
Decreased methylcobalamin 		7 0 5 0.11 0 0
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		39 0 8 0.11 0 0
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		26 0 6 9.4E-02 0 0
CUI: C1848555
Disease: Hypomethioninemia
Hypomethioninemia 		5 0 4 8.9E-02 0 0
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		23 0 5 8.1E-02 0 0
CUI: C0796208
Disease: MENTAL RETARDATION, X-LINKED 3
MENTAL RETARDATION, X-LINKED 3 		3 7 3 6.8E-02 1 2.4E-02
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		83 0 8 6.7E-02 0 0
CUI: C0238801
Disease: Bone marrow megaloblastic (finding)
Bone marrow megaloblastic (finding) 		4 0 3 6.7E-02 0 0
CUI: C0268618
Disease: Cystathioninemia
Cystathioninemia 		4 0 3 6.7E-02 0 0
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		5 0 3 6.5E-02 0 0
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		119 0 9 5.8E-02 0 0
CUI: C0268559
Disease: Hyperglycinemia
Hyperglycinemia 		14 0 3 5.5E-02 0 0
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		17 0 3 5.2E-02 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 10 5.2E-02 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		18 0 3 5.1E-02 0 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		85 0 6 4.9E-02 0 0
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		42 0 4 4.9E-02 0 0
CUI: C0032371
Disease: Poliomyelitis
Poliomyelitis 		23 0 3 4.7E-02 0 0