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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		36 0 10 0.10 0 0
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		36 0 10 0.10 0 0
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		36 0 10 0.10 0 0
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		36 0 10 0.10 0 0
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		37 0 10 1.0E-01 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 49 9.9E-02 1 1.5E-02
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 14 9.3E-02 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 44 9.1E-02 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 32 9.0E-02 0 0
CUI: C0042963
Disease: Vomiting
Vomiting 		303 0 31 9.0E-02 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 20 8.3E-02 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 14 8.2E-02 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 27 8.2E-02 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 25 17 8.0E-02 2 6.9E-02
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		41 0 8 7.5E-02 0 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 0 15 7.2E-02 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 14 7.2E-02 0 0
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		32 0 7 7.1E-02 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 11 7.1E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 50 6.8E-02 2 2.2E-02
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 24 12 6.7E-02 1 3.4E-02
CUI: C0003578
Disease: Apnea
Apnea 		262 0 21 6.7E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 31 6.6E-02 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 0 24 6.6E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 41 6.5E-02 0 0