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: C4022762
Disease: Elevated brain lactate level by MRS
Elevated brain lactate level by MRS 		7 0 5 0.38 0 0
CUI: C2750913
Disease: Neuronal loss in basal ganglia
Neuronal loss in basal ganglia 		8 0 5 0.36 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		9 0 5 0.33 0 0
CUI: C1851959
Disease: Fluctuations in consciousness
Fluctuations in consciousness 		10 0 5 0.31 0 0
CUI: C2750915
Disease: Basal ganglia gliosis
Basal ganglia gliosis 		10 0 5 0.31 0 0
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology 		10 0 5 0.31 0 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology 		10 0 5 0.31 0 0
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements 		11 0 5 0.29 0 0
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		16 0 5 0.23 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		17 0 5 0.22 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 5 0.21 0 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		21 0 5 0.19 0 0
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		3 4 2 0.17 3 0.33
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 2 0.15 3 0.30
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		34 0 5 0.12 0 0
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		41 0 5 0.11 0 0
CUI: C0262665
Disease: Abnormal vocal cord morphology
Abnormal vocal cord morphology 		1 2 1 9.1E-02 2 0.25
CUI: C0796205
Disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1
SPINOCEREBELLAR ATAXIA, X-LINKED 1 		1 0 1 9.1E-02 0 0
CUI: C1321325
Disease: Elliptical nystagmus
Elliptical nystagmus 		1 0 1 9.1E-02 0 0
CUI: C1739147
Disease: Subacute necrotising encephalomyopathy
Subacute necrotising encephalomyopathy 		1 0 1 9.1E-02 0 0
CUI: C1838876
Disease: MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE
MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE 		1 0 1 9.1E-02 0 0
CUI: C1856932
Disease: Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth) 		1 0 1 9.1E-02 0 0
CUI: C1968537
Disease: Severe speech delay
Severe speech delay 		1 0 1 9.1E-02 0 0
CUI: C2931111
Disease: Myopia, susceptibility to
Myopia, susceptibility to 		1 0 1 9.1E-02 0 0
CUI: C3276611
Disease: Absent or delayed speech development
Absent or delayed speech development 		1 0 1 9.1E-02 0 0