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: C4317149
Disease: Vacuolated Lymphocyte Count
Vacuolated Lymphocyte Count 		8 0 8 1.00 0 0
CUI: C4021541
Disease: Anterior beaking of lumbar vertebrae
Anterior beaking of lumbar vertebrae 		4 0 3 0.33 0 0
CUI: C0268228
Disease: Neuraminidase 1 deficiency
Neuraminidase 1 deficiency 		3 0 2 0.22 0 0
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		3 0 2 0.22 0 0
CUI: C0162819
Disease: Skin Diseases, Vascular
Skin Diseases, Vascular 		11 0 3 0.19 0 0
CUI: C1856560
Disease: Bone-marrow foam cells
Bone-marrow foam cells 		5 0 2 0.18 0 0
CUI: C2718068
Disease: beta-Galactosidase Deficiency
beta-Galactosidase Deficiency 		6 0 2 0.17 0 0
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		9 0 2 0.13 0 0
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		36 0 5 0.13 0 0
CUI: C0235328
Disease: Obstruction of colon
Obstruction of colon 		1 0 1 0.12 0 0
CUI: C0267971
Disease: Storage disease
Storage disease 		28 0 4 0.12 0 0
CUI: C0268221
Disease: Fucosidosis Type I
Fucosidosis Type I 		1 0 1 0.12 0 0
CUI: C0268222
Disease: Fucosidosis Type II
Fucosidosis Type II 		1 0 1 0.12 0 0
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		10 0 2 0.12 0 0
CUI: C0349711
Disease: Sialic storage disease
Sialic storage disease 		1 0 1 0.12 0 0
CUI: C0521527
Disease: Shortened trunk
Shortened trunk 		1 0 1 0.12 0 0
CUI: C0860475
Disease: Lactose intolerant
Lactose intolerant 		1 0 1 0.12 0 0
CUI: C1257960
Disease: Mannosidase Deficiency Diseases
Mannosidase Deficiency Diseases 		1 0 1 0.12 0 0
CUI: C1856275
Disease: Glycoprotein Storage Disease
Glycoprotein Storage Disease 		1 0 1 0.12 0 0
CUI: C1856641
Disease: Cervical platyspondyly
Cervical platyspondyly 		1 0 1 0.12 0 0
CUI: C1963905
Disease: Infantile free sialic acid storage disease
Infantile free sialic acid storage disease 		1 0 1 0.12 0 0
CUI: C1968633
Disease: Intimal thickening in the coronary arteries
Intimal thickening in the coronary arteries 		1 0 1 0.12 0 0
CUI: C1968748
Disease: Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement
Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement 		1 0 1 0.12 0 0
CUI: C2673285
Disease: Hydrops fetalis (type II, congenital)
Hydrops fetalis (type II, congenital) 		1 0 1 0.12 0 0
CUI: C2673302
Disease: Urinary excretion of sialylated oligosaccharides
Urinary excretion of sialylated oligosaccharides 		1 0 1 0.12 0 0