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: C1838868
Disease: Corticospinal tract atrophy
Corticospinal tract atrophy 		1 0 1 1.00 0 0
CUI: C1839022
Disease: Striatonigral Degeneration, Infantile, Mitochondrial
Striatonigral Degeneration, Infantile, Mitochondrial 		1 0 1 1.00 0 0
CUI: C3275684
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 		1 3 1 1.00 1 0.33
CUI: C4016603
Disease: SEIZURES AND LACTIC ACIDOSIS
SEIZURES AND LACTIC ACIDOSIS 		1 0 1 1.00 0 0
CUI: C4225415
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 		1 0 1 1.00 0 0
CUI: C4755299
Disease: MT-ATP6-related mitochondrial spastic paraplegia
MT-ATP6-related mitochondrial spastic paraplegia 		1 0 1 1.00 0 0
CUI: C3275686
Disease: CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY 		2 0 1 0.50 0 0
CUI: C4751573
Disease: Periodic paralysis with later-onset distal motor neuropathy
Periodic paralysis with later-onset distal motor neuropathy 		2 0 1 0.50 0 0
CUI: C0026755
Disease: Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency 		3 0 1 0.33 0 0
CUI: C1838103
Disease: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 		3 0 1 0.33 0 0
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome 		3 0 1 0.33 0 0
CUI: C3888962
Disease: POLG mutation
POLG mutation 		3 0 1 0.33 0 0
CUI: C4024895
Disease: Atrophy/Degeneration involving the caudate nucleus
Atrophy/Degeneration involving the caudate nucleus 		3 0 1 0.33 0 0
CUI: C0268581
Disease: Holocarboxylase Synthetase Deficiency
Holocarboxylase Synthetase Deficiency 		4 0 1 0.25 0 0
CUI: C0854021
Disease: Abnormal visual field test
Abnormal visual field test 		4 0 1 0.25 0 0
CUI: C4324304
Disease: MLASA syndrome
MLASA syndrome 		4 0 1 0.25 0 0
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		4 0 1 0.25 0 0
CUI: C1837251
Disease: Basal ganglia cysts
Basal ganglia cysts 		6 0 1 0.17 0 0
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		7 2 1 0.14 1 0.50
CUI: C1866180
Disease: Horizontal pendular nystagmus
Horizontal pendular nystagmus 		7 0 1 0.14 0 0
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		7 0 1 0.14 0 0
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		8 0 1 0.12 0 0
CUI: C2748884
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		9 0 1 0.11 0 0
CUI: C0795996
Disease: STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
STRIATONIGRAL DEGENERATION, INFANTILE (disorder) 		10 0 1 1.0E-01 0 0
CUI: C2750915
Disease: Basal ganglia gliosis
Basal ganglia gliosis 		10 0 1 1.0E-01 0 0