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: C0034350
Disease: Pyruvate Metabolism, Inborn Errors
Pyruvate Metabolism, Inborn Errors
1 0 1 2.9E-02 0 0
CUI: C0155002
Disease: Sudden visual loss
Sudden visual loss
1 0 1 2.9E-02 0 0
CUI: C0235909
Disease: Impaired psychomotor development
Impaired psychomotor development
1 0 1 2.9E-02 0 0
CUI: C0268090
Disease: Manganese deficiency
Manganese deficiency
1 0 1 2.9E-02 0 0
CUI: C0423640
Disease: Right Flank Pain
Right Flank Pain
1 0 1 2.9E-02 0 0
colon (non-specific) polyp hyperplastic
1 0 1 2.9E-02 0 0
CUI: C0745745
Disease: liver disease parenchymal
liver disease parenchymal
1 0 1 2.9E-02 0 0
Subacute necrotising encephalomyopathy
1 0 1 2.9E-02 0 0
Pyruvate dehydrogenase phosphatase deficiency
1 0 1 2.9E-02 0 0
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
1 0 1 2.9E-02 0 0
Pyruvate Dehydrogenase E2 Deficiency
1 0 1 2.9E-02 0 0
CUI: C3150898
Disease: CARDIOMYOPATHY, DILATED, 1GG
CARDIOMYOPATHY, DILATED, 1GG
1 0 1 2.9E-02 0 0
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5
1 0 1 2.9E-02 0 0
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
1 0 1 2.9E-02 0 0
CUI: C4013993
Disease: Bilateral striatal necrosis
Bilateral striatal necrosis
1 0 1 2.9E-02 0 0
ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY
1 0 1 2.9E-02 0 0
Childhood-onset spasticity with hyperglycinemia
1 0 1 2.9E-02 0 0
SURF1-related Charcot-Marie-Tooth disease type 4
1 0 1 2.9E-02 0 0
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
1 0 1 2.9E-02 0 0
Progressive cavitating leukoencephalopathy
1 0 1 2.9E-02 0 0
CUI: C4318382
Disease: Cardiac Conduction Defects
Cardiac Conduction Defects
1 0 1 2.9E-02 0 0
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS
1 0 1 2.9E-02 0 0
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
1 0 1 2.9E-02 0 0
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
1 0 1 2.9E-02 0 0
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
1 0 1 2.9E-02 0 0