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: C0546389
Disease: Hepatic periportal necrosis
Hepatic periportal necrosis
3 0 3 0.23 0 0
CUI: C1856401
Disease: Glutaric Aciduria IIA
Glutaric Aciduria IIA
3 0 3 0.23 0 0
CUI: C1856403
Disease: Glutaric Aciduria IIB
Glutaric Aciduria IIB
3 0 3 0.23 0 0
CUI: C1856405
Disease: Glutaric Aciduria IIC
Glutaric Aciduria IIC
3 0 3 0.23 0 0
Electron transfer flavoprotein-ubiquinone oxidoreductase defect
3 0 3 0.23 0 0
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria
11 0 4 0.20 0 0
CUI: C4025603
Disease: Glutaric acidemia
Glutaric acidemia
5 0 3 0.20 0 0
Neutral Lipid Storage Disease with Myopathy
6 0 3 0.19 0 0
CUI: C1865353
Disease: Ethylmalonic aciduria
Ethylmalonic aciduria
6 0 3 0.19 0 0
CUI: C0268594
Disease: Glutaric aciduria
Glutaric aciduria
8 0 3 0.17 0 0
Trifunctional Protein Deficiency, Type 2
2 0 2 0.15 0 0
CUI: C1860449
Disease: Equinus calcaneus
Equinus calcaneus
3 0 2 0.14 0 0
CUI: C1849686
Disease: Diffuse hepatic steatosis
Diffuse hepatic steatosis
4 0 2 0.13 0 0
CUI: C0342784
Disease: Pearson's marrow-pancreas syndrome
Pearson's marrow-pancreas syndrome
5 0 2 0.12 0 0
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts
14 0 3 0.12 0 0
CUI: C1856438
Disease: Hypoketotic hypoglycemia
Hypoketotic hypoglycemia
15 0 3 0.12 0 0
Distal peripheral sensory neuropathy
6 0 2 0.12 0 0
CUI: C4551566
Disease: Equinovarus deformity of foot
Equinovarus deformity of foot
6 0 2 0.12 0 0
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid
8 0 2 0.11 0 0
CUI: C3277184
Disease: Decreased patellar reflex
Decreased patellar reflex
8 0 2 0.11 0 0
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
8 0 2 0.11 0 0
CUI: C0020617
Disease: Hypoglycemic coma
Hypoglycemic coma
19 0 3 0.10 0 0
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N
10 0 2 9.5E-02 0 0
Carnitine palmitoyl transferase 2 deficiency
11 0 2 9.1E-02 0 0
Trifunctional Protein Deficiency With Myopathy And Neuropathy
23 0 3 9.1E-02 0 0