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: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency
5 0 4 0.80 0 0
Methylmalonic acidemia with homocystinuria
2 0 2 0.50 0 0
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
2 0 2 0.50 0 0
Decreased methionine synthase activity
6 0 3 0.43 0 0
CUI: C1848556
Disease: Decreased adenosylcobalamin
Decreased adenosylcobalamin
7 0 3 0.38 0 0
CUI: C4021736
Disease: Decreased methylcobalamin
Decreased methylcobalamin
7 0 3 0.38 0 0
CUI: C0238801
Disease: Bone marrow megaloblastic (finding)
Bone marrow megaloblastic (finding)
4 0 2 0.33 0 0
CUI: C1848555
Disease: Hypomethioninemia
Hypomethioninemia
5 0 2 0.29 0 0
Decreased methylmalonyl-CoA mutase activity
5 0 2 0.29 0 0
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder)
1 0 1 0.25 0 0
CUI: C3495552
Disease: Cystathionase Deficiency
Cystathionase Deficiency
1 0 1 0.25 0 0
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia
11 0 3 0.25 0 0
HOMOCYSTEINE, TOTAL PLASMA, ELEVATED
1 0 1 0.25 0 0
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria
2 0 1 0.20 0 0
CUI: C1272348
Disease: Disorder of vitamin B12
Disorder of vitamin B12
2 0 1 0.20 0 0
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
3 0 1 0.17 0 0
CUI: C2733623
Disease: Bone Fibrosarcoma
Bone Fibrosarcoma
5 0 1 0.12 0 0
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic
26 0 3 0.11 0 0
CUI: C0017675
Disease: Glossitis
Glossitis
7 0 1 1.0E-01 0 0
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria
33 0 3 8.8E-02 0 0
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement
23 0 2 8.0E-02 0 0
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia
10 0 1 7.7E-02 0 0
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
39 0 3 7.5E-02 0 0
CUI: C0040038
Disease: Thromboembolism
Thromboembolism
25 0 2 7.4E-02 0 0
CUI: C0035320
Disease: Retinal Neovascularization
Retinal Neovascularization
12 0 1 6.7E-02 0 0