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: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		48 0 1 8.9E-04 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 1 8.9E-04 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 0 1 9.0E-04 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 1 9.0E-04 0 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		43 0 1 9.0E-04 0 0
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		41 259 1 9.0E-04 1 1.8E-03
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		41 0 1 9.0E-04 0 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 1 9.0E-04 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 0 1 9.0E-04 0 0
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		41 259 1 9.0E-04 1 1.8E-03
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 1 9.0E-04 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 1 9.0E-04 0 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		40 0 1 9.0E-04 0 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		40 0 1 9.0E-04 0 0
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 1 9.0E-04 0 0
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		40 0 1 9.0E-04 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 1 9.0E-04 0 0
CUI: C0560346
Disease: Difficulty running
Difficulty running 		38 0 1 9.0E-04 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 0 1 9.0E-04 0 0
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		37 0 1 9.0E-04 0 0
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		37 0 1 9.0E-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 9.0E-04 0 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		36 0 1 9.0E-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 9.0E-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 9.0E-04 0 0