Source: ALL
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: C0002534
Disease: Renal Aminoacidurias
Renal Aminoacidurias 		1 0 1 2.8E-02 0 0
CUI: C0034350
Disease: Pyruvate Metabolism, Inborn Errors
Pyruvate Metabolism, Inborn Errors 		1 0 1 2.8E-02 0 0
CUI: C0155002
Disease: Sudden visual loss
Sudden visual loss 		1 0 1 2.8E-02 0 0
CUI: C0423640
Disease: Right Flank Pain
Right Flank Pain 		1 0 1 2.8E-02 0 0
CUI: C1739147
Disease: Subacute necrotising encephalomyopathy
Subacute necrotising encephalomyopathy 		1 0 1 2.8E-02 0 0
CUI: C2919758
Disease: Deficiency of succinate-CoA ligase
Deficiency of succinate-CoA ligase 		1 0 1 2.8E-02 0 0
CUI: C2931111
Disease: Myopia, susceptibility to
Myopia, susceptibility to 		1 0 1 2.8E-02 0 0
CUI: C3150898
Disease: CARDIOMYOPATHY, DILATED, 1GG
CARDIOMYOPATHY, DILATED, 1GG 		1 0 1 2.8E-02 0 0
CUI: C3151476
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) 		1 0 1 2.8E-02 0 0
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		1 0 1 2.8E-02 0 0
CUI: C3501372
Disease: Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive 		1 0 1 2.8E-02 0 0
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		1 0 1 2.8E-02 0 0
CUI: C3554605
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 		1 0 1 2.8E-02 0 0
CUI: C3554607
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 		1 0 1 2.8E-02 0 0
CUI: C4014942
Disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 		1 0 1 2.8E-02 0 0
CUI: C4015643
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 		1 0 1 2.8E-02 0 0
CUI: C4016851
Disease: BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY 		1 0 1 2.8E-02 0 0
CUI: C4025098
Disease: Intermittent hyperpnea at rest
Intermittent hyperpnea at rest 		1 0 1 2.8E-02 0 0
CUI: C4025631
Disease: Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes 		1 0 1 2.8E-02 0 0
CUI: C4225246
Disease: SURF1-related Charcot-Marie-Tooth disease type 4
SURF1-related Charcot-Marie-Tooth disease type 4 		1 0 1 2.8E-02 0 0
CUI: C4304840
Disease: Progressive cavitating leukoencephalopathy
Progressive cavitating leukoencephalopathy 		1 0 1 2.8E-02 0 0
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		1 0 1 2.8E-02 0 0
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS 		1 0 1 2.8E-02 0 0
CUI: C4746984
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 		1 0 1 2.8E-02 0 0
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		1 0 1 2.8E-02 0 0