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: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		23 0 10 0.15 0 0
CUI: C4022762
Disease: Elevated brain lactate level by MRS
Elevated brain lactate level by MRS 		7 0 5 9.3E-02 0 0
CUI: C2750913
Disease: Neuronal loss in basal ganglia
Neuronal loss in basal ganglia 		8 0 5 9.1E-02 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		9 0 5 8.9E-02 0 0
CUI: C1851959
Disease: Fluctuations in consciousness
Fluctuations in consciousness 		10 0 5 8.8E-02 0 0
CUI: C2750915
Disease: Basal ganglia gliosis
Basal ganglia gliosis 		10 0 5 8.8E-02 0 0
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology 		10 0 5 8.8E-02 0 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology 		10 0 5 8.8E-02 0 0
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements 		11 0 5 8.6E-02 0 0
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		11 0 5 8.6E-02 0 0
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		118 0 13 8.3E-02 0 0
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		16 0 5 7.9E-02 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		17 0 5 7.8E-02 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 5 7.7E-02 0 0
CUI: C1864498
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE 		5 0 4 7.5E-02 0 0
CUI: C0155550
Disease: Neural hearing loss
Neural hearing loss 		6 0 4 7.4E-02 0 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		21 0 5 7.4E-02 0 0
CUI: C4272578
Disease: Autosomal Recessive Osteopetrosis
Autosomal Recessive Osteopetrosis 		24 0 5 7.0E-02 0 0
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis 		27 0 5 6.8E-02 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 7 6.7E-02 0 0
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II 		13 0 4 6.6E-02 0 0
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		47 0 6 6.5E-02 0 0
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		81 0 8 6.4E-02 0 0
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		34 0 5 6.2E-02 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 8 6.1E-02 0 0