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: C4016438
Disease: GLUTARIC ACIDEMIA IIC, LATE-ONSET
GLUTARIC ACIDEMIA IIC, LATE-ONSET 		1 0 1 1.00 0 0
CUI: C0546389
Disease: Hepatic periportal necrosis
Hepatic periportal necrosis 		3 0 1 0.33 0 0
CUI: C1856401
Disease: Glutaric Aciduria IIA
Glutaric Aciduria IIA 		3 0 1 0.33 0 0
CUI: C1856403
Disease: Glutaric Aciduria IIB
Glutaric Aciduria IIB 		3 0 1 0.33 0 0
CUI: C1856405
Disease: Glutaric Aciduria IIC
Glutaric Aciduria IIC 		3 0 1 0.33 0 0
CUI: C4025586
Disease: Electron transfer flavoprotein-ubiquinone oxidoreductase defect
Electron transfer flavoprotein-ubiquinone oxidoreductase defect 		3 0 1 0.33 0 0
CUI: C0410214
Disease: Myopathy with Abnormal Lipid Metabolism
Myopathy with Abnormal Lipid Metabolism 		4 2 1 0.25 1 0.20
CUI: C4025603
Disease: Glutaric acidemia
Glutaric acidemia 		5 0 1 0.20 0 0
CUI: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		6 0 1 0.17 0 0
CUI: C1865353
Disease: Ethylmalonic aciduria
Ethylmalonic aciduria 		6 0 1 0.17 0 0
CUI: C0268594
Disease: Glutaric aciduria
Glutaric aciduria 		8 0 1 0.12 0 0
CUI: C0476237
Disease: Metabolic symptoms
Metabolic symptoms 		9 0 1 0.11 0 0
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
Carnitine palmitoyl transferase 2 deficiency 		11 0 1 9.1E-02 0 0
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		11 0 1 9.1E-02 0 0
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		13 0 1 7.7E-02 0 0
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts 		14 0 1 7.1E-02 0 0
CUI: C0020617
Disease: Hypoglycemic coma
Hypoglycemic coma 		19 0 1 5.3E-02 0 0
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY 		21 0 1 4.8E-02 0 0
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		27 0 1 3.7E-02 0 0
CUI: C0001122
Disease: Acidosis
Acidosis 		28 0 1 3.6E-02 0 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		36 0 1 2.8E-02 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 1 2.7E-02 0 0
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		39 45 1 2.6E-02 3 6.5E-02
CUI: C0268238
Disease: Triglyceride storage disease with ichthyosis
Triglyceride storage disease with ichthyosis 		41 0 1 2.4E-02 0 0
CUI: C0017979
Disease: Glycosuria
Glycosuria 		53 0 1 1.9E-02 0 0