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: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 1 8.4E-04 0 0
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		39 0 1 8.5E-04 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 1 8.5E-04 0 0
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		39 0 1 8.5E-04 0 0
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		37 0 1 8.5E-04 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 1 8.5E-04 0 0
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		37 0 1 8.5E-04 0 0
CUI: C0018810
Disease: heart rate
heart rate 		36 0 1 8.5E-04 0 0
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		36 0 1 8.5E-04 0 0
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		36 0 1 8.5E-04 0 0
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		36 0 1 8.5E-04 0 0
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		36 0 1 8.5E-04 0 0
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		36 0 1 8.5E-04 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 8.5E-04 0 0
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly 		35 0 1 8.5E-04 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 1 8.5E-04 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 1 8.5E-04 0 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 1 8.5E-04 0 0
CUI: C0020461
Disease: Hyperkalemia
Hyperkalemia 		32 0 1 8.5E-04 0 0
CUI: C0026603
Disease: Motion Sickness
Motion Sickness 		32 0 1 8.5E-04 0 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		32 0 1 8.5E-04 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 0 1 8.5E-04 0 0
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		32 0 1 8.5E-04 0 0
CUI: C0038663
Disease: Suicide attempt
Suicide attempt 		31 0 1 8.5E-04 0 0
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		31 0 1 8.5E-04 0 0