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: C0035085
Disease: Renal infarction
Renal infarction
0 1 0 0 1 1.6E-02
CUI: C2931928
Disease: Mitochondrial cytopathy
Mitochondrial cytopathy
0 3 0 0 1 1.6E-02
CUI: C3495893
Disease: Congenital thrombophilia
Congenital thrombophilia
0 1 0 0 1 1.6E-02
Homozygous methylenetetrahydrofolate reductase mutation
0 1 0 0 1 1.6E-02
CUI: C4511035
Disease: Isolated thrombocytopenia
Isolated thrombocytopenia
0 9 0 0 1 1.4E-02
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
87 0 1 1.1E-03 0 0
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result
65 0 1 1.1E-03 0 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia
59 0 1 1.1E-03 0 0
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement
50 0 1 1.1E-03 0 0
CUI: C0018520
Disease: Halitosis
Halitosis
48 0 1 1.1E-03 0 0
CUI: C0032987
Disease: Ectopic Pregnancy
Ectopic Pregnancy
48 0 1 1.1E-03 0 0
Focal T2 hyperintense basal ganglia lesion
46 0 1 1.1E-03 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis
44 0 1 1.1E-03 0 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central
43 0 1 1.1E-03 0 0
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia
41 0 1 1.1E-03 0 0
CUI: C0429097
Disease: QRS complex feature
QRS complex feature
41 0 1 1.1E-03 0 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia
41 0 1 1.1E-03 0 0
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
40 0 1 1.1E-03 0 0
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
40 0 1 1.1E-03 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
40 0 1 1.1E-03 0 0
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum
39 0 1 1.1E-03 0 0
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome
39 0 1 1.1E-03 0 0
Abnormal mitochondria in muscle tissue
39 0 1 1.1E-03 0 0
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
37 0 1 1.1E-03 0 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia
36 0 1 1.1E-03 0 0