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: C0231519
Disease: Gegenhalten
Gegenhalten 		5 0 5 0.21 0 0
CUI: C0233608
Disease: Catatonic Rigidity
Catatonic Rigidity 		5 0 5 0.21 0 0
CUI: C0239325
Disease: Extensor Rigidity
Extensor Rigidity 		5 0 5 0.21 0 0
CUI: C0277821
Disease: Extrapyramidal Rigidity
Extrapyramidal Rigidity 		5 0 5 0.21 0 0
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		5 0 5 0.21 0 0
CUI: C1320474
Disease: Nuchal Rigidity
Nuchal Rigidity 		6 0 5 0.20 0 0
CUI: C3277376
Disease: Multiple mitochondrial DNA deletions
Multiple mitochondrial DNA deletions 		6 0 5 0.20 0 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		10 0 5 0.17 0 0
CUI: C4024946
Disease: Focal white matter lesions
Focal white matter lesions 		14 0 5 0.15 0 0
CUI: C0577655
Disease: Quadriceps weakness
Quadriceps weakness 		15 0 5 0.15 0 0
CUI: C0813217
Disease: Expressionless face
Expressionless face 		31 0 7 0.15 0 0
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		24 0 6 0.14 0 0
CUI: C0234379
Disease: Resting Tremor
Resting Tremor 		57 0 10 0.14 0 0
CUI: C0344424
Disease: Ventricular Arrhythmia by ECG Finding
Ventricular Arrhythmia by ECG Finding 		17 0 5 0.14 0 0
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0 		17 0 5 0.14 0 0
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0 		17 0 5 0.14 0 0
CUI: C4022792
Disease: Reduced ejection fraction
Reduced ejection fraction 		18 0 5 0.14 0 0
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		47 0 8 0.13 0 0
CUI: C4024895
Disease: Atrophy/Degeneration involving the caudate nucleus
Atrophy/Degeneration involving the caudate nucleus 		3 0 3 0.12 0 0
CUI: C1850303
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 		4 0 3 0.12 0 0
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		33 0 6 0.12 0 0
CUI: C1837251
Disease: Basal ganglia cysts
Basal ganglia cysts 		6 0 3 0.11 0 0
CUI: C4025597
Disease: Subsarcolemmal accumulations of abnormally shaped mitochondria
Subsarcolemmal accumulations of abnormally shaped mitochondria 		6 0 3 0.11 0 0
CUI: C1866180
Disease: Horizontal pendular nystagmus
Horizontal pendular nystagmus 		7 0 3 0.11 0 0
CUI: C0028734
Disease: Nocturia
Nocturia 		28 0 5 0.11 0 0