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: C0155002
Disease: Sudden visual loss
Sudden visual loss 		1 0 1 2.4E-02 0 0
CUI: C0264787
Disease: Nonobstructive cardiomyopathy
Nonobstructive cardiomyopathy 		1 0 1 2.4E-02 0 0
CUI: C0266260
Disease: Accessory hepatic duct
Accessory hepatic duct 		1 0 1 2.4E-02 0 0
CUI: C1839028
Disease: Mitochondrial Myopathy with Diabetes
Mitochondrial Myopathy with Diabetes 		1 0 1 2.4E-02 0 0
CUI: C1864840
Disease: Combined Oxidative Phosphorylation Deficiency 3
Combined Oxidative Phosphorylation Deficiency 3 		1 0 1 2.4E-02 0 0
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 		1 0 1 2.4E-02 0 0
CUI: C3151556
Disease: Abnormal iron deposition in mitochondria
Abnormal iron deposition in mitochondria 		1 0 1 2.4E-02 0 0
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT 		1 0 1 2.4E-02 0 0
CUI: C3554079
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 		1 0 1 2.4E-02 0 0
CUI: C3554182
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 		1 11 1 2.4E-02 1 7.7E-02
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		1 0 1 2.4E-02 0 0
CUI: C4013993
Disease: Bilateral striatal necrosis
Bilateral striatal necrosis 		1 1 1 2.4E-02 1 0.33
CUI: C4016608
Disease: MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS 		1 0 1 2.4E-02 0 0
CUI: C4021215
Disease: EEG with periodic lateralized epileptiform discharges
EEG with periodic lateralized epileptiform discharges 		1 0 1 2.4E-02 0 0
CUI: C4022447
Disease: Abnormality of the tympanic membrane
Abnormality of the tympanic membrane 		1 0 1 2.4E-02 0 0
CUI: C4073241
Disease: Abnormality of nasopharyngeal adenoids
Abnormality of nasopharyngeal adenoids 		1 0 1 2.4E-02 0 0
CUI: C4225200
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 		1 0 1 2.4E-02 0 0
CUI: C4225206
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 		1 0 1 2.4E-02 0 0
CUI: C4225251
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 		1 0 1 2.4E-02 0 0
CUI: C4225322
Disease: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE 		1 0 1 2.4E-02 0 0
CUI: C4225421
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 		1 0 1 2.4E-02 0 0
CUI: C4280681
Disease: Gastrojejunal tube feeding in infancy
Gastrojejunal tube feeding in infancy 		1 0 1 2.4E-02 0 0
CUI: C4304840
Disease: Progressive cavitating leukoencephalopathy
Progressive cavitating leukoencephalopathy 		1 0 1 2.4E-02 0 0
CUI: C4318382
Disease: Cardiac Conduction Defects
Cardiac Conduction Defects 		1 1 1 2.4E-02 1 0.33
CUI: C4722144
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 (finding)
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 (finding) 		1 0 1 2.4E-02 0 0