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: C1969144
Disease: Renal cortical cysts
Renal cortical cysts 		14 0 5 0.14 0 0
CUI: C0546389
Disease: Hepatic periportal necrosis
Hepatic periportal necrosis 		3 0 3 0.11 0 0
CUI: C1856401
Disease: Glutaric Aciduria IIA
Glutaric Aciduria IIA 		3 0 3 0.11 0 0
CUI: C1856403
Disease: Glutaric Aciduria IIB
Glutaric Aciduria IIB 		3 0 3 0.11 0 0
CUI: C1856405
Disease: Glutaric Aciduria IIC
Glutaric Aciduria IIC 		3 0 3 0.11 0 0
CUI: C4025586
Disease: Electron transfer flavoprotein-ubiquinone oxidoreductase defect
Electron transfer flavoprotein-ubiquinone oxidoreductase defect 		3 0 3 0.11 0 0
CUI: C4025603
Disease: Glutaric acidemia
Glutaric acidemia 		5 0 3 0.10 0 0
CUI: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		6 0 3 1.0E-01 0 0
CUI: C1865353
Disease: Ethylmalonic aciduria
Ethylmalonic aciduria 		6 0 3 1.0E-01 0 0
CUI: C0266251
Disease: Gallbladder, Agenesis Of
Gallbladder, Agenesis Of 		7 0 3 9.7E-02 0 0
CUI: C0268594
Disease: Glutaric aciduria
Glutaric aciduria 		8 0 3 9.4E-02 0 0
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		32 0 5 9.3E-02 0 0
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		11 0 3 8.6E-02 0 0
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		13 0 3 8.1E-02 0 0
CUI: C1850259
Disease: Short tibia
Short tibia 		17 0 3 7.3E-02 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 9 4 7.1E-02 3 0.19
CUI: C1850558
Disease: Horizontal sacrum
Horizontal sacrum 		3 0 2 7.1E-02 0 0
CUI: C1861217
Disease: Small foramen magnum
Small foramen magnum 		3 0 2 7.1E-02 0 0
CUI: C4023039
Disease: Rhizomelic leg shortening
Rhizomelic leg shortening 		3 0 2 7.1E-02 0 0
CUI: C4024595
Disease: Abnormal ossification involving the femoral head and neck
Abnormal ossification involving the femoral head and neck 		3 0 2 7.1E-02 0 0
CUI: C0020617
Disease: Hypoglycemic coma
Hypoglycemic coma 		19 0 3 7.0E-02 0 0
CUI: C1859460
Disease: Bowed humerus
Bowed humerus 		4 0 2 6.9E-02 0 0
CUI: C0577063
Disease: Gallbladder absent
Gallbladder absent 		5 0 2 6.7E-02 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 4 6.7E-02 0 0
CUI: C1860105
Disease: Severe short-limb dwarfism
Severe short-limb dwarfism 		5 0 2 6.7E-02 0 0