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: C3275686
Disease: CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY 		2 0 2 0.25 0 0
CUI: C4751573
Disease: Periodic paralysis with later-onset distal motor neuropathy
Periodic paralysis with later-onset distal motor neuropathy 		2 0 2 0.25 0 0
CUI: C0342779
Disease: ATP synthase deficiency
ATP synthase deficiency 		3 0 2 0.22 0 0
CUI: C4023125
Disease: Decreased activity of mitochondrial ATP synthase complex
Decreased activity of mitochondrial ATP synthase complex 		3 0 2 0.22 0 0
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		4 0 2 0.20 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 4 0.17 0 0
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		7 0 2 0.15 0 0
CUI: C2748884
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		9 0 2 0.13 0 0
CUI: C1838868
Disease: Corticospinal tract atrophy
Corticospinal tract atrophy 		1 0 1 0.12 0 0
CUI: C1838916
Disease: ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET 		1 0 1 0.12 0 0
CUI: C1839022
Disease: Striatonigral Degeneration, Infantile, Mitochondrial
Striatonigral Degeneration, Infantile, Mitochondrial 		1 0 1 0.12 0 0
CUI: C3275684
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 		1 0 1 0.12 0 0
CUI: C3276276
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 		1 0 1 0.12 0 0
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		1 4 1 0.12 1 0.25
CUI: C3279708
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 		1 0 1 0.12 0 0
CUI: C3808899
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 		1 0 1 0.12 0 0
CUI: C4015062
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 		1 0 1 0.12 0 0
CUI: C4016603
Disease: SEIZURES AND LACTIC ACIDOSIS
SEIZURES AND LACTIC ACIDOSIS 		1 0 1 0.12 0 0
CUI: C4225415
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 		1 0 1 0.12 0 0
CUI: C4748269
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 		1 0 1 0.12 0 0
CUI: C4755299
Disease: MT-ATP6-related mitochondrial spastic paraplegia
MT-ATP6-related mitochondrial spastic paraplegia 		1 0 1 0.12 0 0
CUI: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy 		12 0 2 0.11 0 0
CUI: C0026755
Disease: Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency 		3 0 1 1.0E-01 0 0
CUI: C0476369
Disease: Echocardiogram abnormal
Echocardiogram abnormal 		3 0 1 1.0E-01 0 0
CUI: C1837670
Disease: Progressive intervertebral space narrowing
Progressive intervertebral space narrowing 		3 0 1 1.0E-01 0 0