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: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		11 0 5 0.29 0 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		21 2 6 0.23 1 0.50
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: C4022580
Disease: Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors 		2 0 2 0.18 0 0
CUI: C1864238
Disease: Prolonged miniature endplate currents
Prolonged miniature endplate currents 		3 0 2 0.17 0 0
CUI: C4022576
Disease: Slow pupillary light response
Slow pupillary light response 		4 0 2 0.15 0 0
CUI: C1862481
Disease: Limited wrist extension
Limited wrist extension 		5 0 2 0.14 0 0
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		50 0 7 0.13 0 0
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: C4025676
Disease: Abnormality of the knee
Abnormality of the knee 		10 0 2 0.11 0 0
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		11 0 2 1.0E-01 0 0
CUI: C0585006
Disease: Deficiency of enoyl-CoA hydratase
Deficiency of enoyl-CoA hydratase 		1 0 1 9.1E-02 0 0
CUI: C1533628
Disease: Pseudo-Zellweger syndrome
Pseudo-Zellweger syndrome 		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: C1836890
Disease: Hypoplasia of the ciliary body
Hypoplasia of the ciliary body 		1 0 1 9.1E-02 0 0