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 8.2E-04 0 0
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		39 0 1 8.2E-04 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 1 8.2E-04 0 0
CUI: C0560346
Disease: Difficulty running
Difficulty running 		38 0 1 8.2E-04 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 0 1 8.2E-04 0 0
CUI: C0236773
Disease: Depressed bipolar I disorder
Depressed bipolar I disorder 		37 0 1 8.2E-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 8.2E-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 8.2E-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 8.2E-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 8.2E-04 0 0
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		36 0 1 8.2E-04 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 8.2E-04 0 0
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness 		35 0 1 8.2E-04 0 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		34 0 1 8.2E-04 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 9 1 8.2E-04 1 9.0E-03
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		33 0 1 8.2E-04 0 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 1 8.2E-04 0 0
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		32 0 1 8.2E-04 0 0
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		32 0 1 8.2E-04 0 0
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		31 0 1 8.2E-04 0 0
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		31 0 1 8.2E-04 0 0
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		31 0 1 8.2E-04 0 0
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		30 0 1 8.3E-04 0 0
CUI: C0151872
Disease: Prothrombin time increased
Prothrombin time increased 		30 0 1 8.3E-04 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 1 8.3E-04 0 0