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: C3554182
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 		1 11 1 1.00 2 0.18
CUI: C4013993
Disease: Bilateral striatal necrosis
Bilateral striatal necrosis 		1 1 1 1.00 1 0.50
CUI: C4318382
Disease: Cardiac Conduction Defects
Cardiac Conduction Defects 		1 1 1 1.00 1 0.50
CUI: C1859200
Disease: Inability to walk by childhood/adolescence
Inability to walk by childhood/adolescence 		4 2 1 0.25 1 0.33
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		8 5 1 0.12 1 0.17
CUI: C0086447
Disease: Ileal Pouches
Ileal Pouches 		13 0 1 7.7E-02 0 0
CUI: C0949856
Disease: Oxidative Phosphorylation Deficiencies
Oxidative Phosphorylation Deficiencies 		18 0 1 5.6E-02 0 0
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		24 1 1 4.2E-02 1 0.50
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 1 2.9E-02 0 0
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		35 0 1 2.9E-02 0 0
CUI: C0376620
Disease: Pouchitis
Pouchitis 		38 0 1 2.6E-02 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 3 1 2.4E-02 1 0.25
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		43 0 1 2.3E-02 0 0
CUI: C0243066
Disease: Atresia
Atresia 		44 0 1 2.3E-02 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 1 2.2E-02 0 0
CUI: C0271055
Disease: Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment 		47 0 1 2.1E-02 0 0
CUI: C0949857
Disease: Mitochondrial Respiratory Chain Deficiencies
Mitochondrial Respiratory Chain Deficiencies 		49 0 1 2.0E-02 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 11 1 1.9E-02 1 8.3E-02
CUI: C0343386
Disease: Clostridium difficile infection
Clostridium difficile infection 		57 0 1 1.8E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 1 1.7E-02 0 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		59 0 1 1.7E-02 0 0
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		72 0 1 1.4E-02 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 7 1 1.3E-02 1 0.12
CUI: C0002418
Disease: Amblyopia
Amblyopia 		85 29 1 1.2E-02 1 3.3E-02
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 1.1E-02 0 0