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 8.2E-02 0 0
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		21 0 6 8.1E-02 0 0
CUI: C2750913
Disease: Neuronal loss in basal ganglia
Neuronal loss in basal ganglia 		8 0 5 8.1E-02 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 20 8.0E-02 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		9 0 5 7.9E-02 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 11 7.9E-02 0 0
CUI: C1851959
Disease: Fluctuations in consciousness
Fluctuations in consciousness 		10 0 5 7.8E-02 0 0
CUI: C2750915
Disease: Basal ganglia gliosis
Basal ganglia gliosis 		10 0 5 7.8E-02 0 0
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology 		10 0 5 7.8E-02 0 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		25 0 6 7.7E-02 0 0
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements 		11 0 5 7.7E-02 0 0
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		11 0 5 7.7E-02 0 0
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		11 0 5 7.7E-02 0 0
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses 		28 0 6 7.4E-02 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 9 7.2E-02 0 0
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		16 0 5 7.1E-02 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		17 0 5 7.0E-02 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 5 6.9E-02 0 0
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		34 0 6 6.9E-02 0 0
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		36 0 6 6.7E-02 0 0
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		36 0 6 6.7E-02 0 0
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		36 0 6 6.7E-02 0 0
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		36 0 6 6.7E-02 0 0
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		36 0 6 6.7E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 6 6.7E-02 0 0