Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
1 0 1 0.11 0 0
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
1 0 1 0.11 0 0
MT-ATP6-related mitochondrial spastic paraplegia
1 0 1 0.11 0 0
CUI: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy
12 3 2 0.11 1 0.20
Wolff-Parkinson-White Syndrome, CTCAE
2 0 1 1.0E-01 0 0
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2
2 2 1 1.0E-01 1 0.25
Mitochondrial neurogastrointestinal encephalomyopathy syndrome
2 0 1 1.0E-01 0 0
CUI: C0026755
Disease: Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency
3 0 1 9.1E-02 0 0
CUI: C0232310
Disease: P mitrale (finding)
P mitrale (finding)
3 0 1 9.1E-02 0 0
CUI: C0238705
Disease: Left atrial hypertrophy
Left atrial hypertrophy
3 0 1 9.1E-02 0 0
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
3 0 1 9.1E-02 0 0
Progressive intervertebral space narrowing
3 0 1 9.1E-02 0 0
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
3 0 1 9.1E-02 0 0
Familial Hypertrophic Cardiomyopathy Type 4
3 0 1 9.1E-02 0 0
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome
3 0 1 9.1E-02 0 0
CUI: C3888962
Disease: POLG mutation
POLG mutation
3 0 1 9.1E-02 0 0
Atrophy/Degeneration involving the caudate nucleus
3 0 1 9.1E-02 0 0
CUI: C4523900
Disease: Axonal edema
Axonal edema
3 0 1 9.1E-02 0 0
Holocarboxylase Synthetase Deficiency
4 0 1 8.3E-02 0 0
CUI: C0520888
Disease: Inverted T wave
Inverted T wave
4 0 1 8.3E-02 0 0
Brain Diseases, Metabolic, Inherited
4 0 1 8.3E-02 0 0
CUI: C0752109
Disease: Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic, Inborn
4 0 1 8.3E-02 0 0
Central Nervous System Inborn Metabolic Diseases
4 0 1 8.3E-02 0 0
CUI: C0854021
Disease: Abnormal visual field test
Abnormal visual field test
4 0 1 8.3E-02 0 0
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
4 0 1 8.3E-02 0 0