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: C0201874
Disease: Amino acids measurement
Amino acids measurement 		53 0 1 8.2E-04 0 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		49 0 1 8.2E-04 0 0
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		49 0 1 8.2E-04 0 0
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		48 0 1 8.2E-04 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 1 8.2E-04 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		44 0 1 8.2E-04 0 0
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		43 0 1 8.2E-04 0 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		43 0 1 8.2E-04 0 0
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		42 0 1 8.2E-04 0 0
CUI: C0234860
Disease: Weak cry
Weak cry 		42 0 1 8.2E-04 0 0
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		41 0 1 8.3E-04 0 0
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 1 8.3E-04 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 1 8.3E-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 8.3E-04 0 0
CUI: C0085615
Disease: Right bundle branch block
Right bundle branch block 		39 0 1 8.3E-04 0 0
CUI: C0233763
Disease: Hallucinations, Visual
Hallucinations, Visual 		39 0 1 8.3E-04 0 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		39 0 1 8.3E-04 0 0
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		39 0 1 8.3E-04 0 0
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		39 0 1 8.3E-04 0 0
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		38 0 1 8.3E-04 0 0
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		38 0 1 8.3E-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 8.3E-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 8.3E-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 8.3E-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 8.3E-04 0 0