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: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		7 98 5 0.19 16 0.15
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		9 57 5 0.17 16 0.25
CUI: C2713321
Disease: alpha-L-Iduronidase Deficiency
alpha-L-Iduronidase Deficiency 		4 0 4 0.16 0 0
CUI: C0036489
Disease: Sea-Blue Histiocyte Syndrome
Sea-Blue Histiocyte Syndrome 		5 0 4 0.15 0 0
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		5 0 4 0.15 0 0
CUI: C0850673
Disease: congenital metabolic disorder
congenital metabolic disorder 		5 0 4 0.15 0 0
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		16 0 5 0.14 0 0
CUI: C0521719
Disease: Clouding of corneal stroma
Clouding of corneal stroma 		8 0 4 0.14 0 0
CUI: C3258293
Disease: Valvular disease
Valvular disease 		10 0 4 0.13 0 0
CUI: C0267971
Disease: Storage disease
Storage disease 		28 0 6 0.13 0 0
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		130 8 17 0.12 1 3.3E-02
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		12 0 4 0.12 0 0
CUI: C3825414
Disease: Pain in children
Pain in children 		12 0 4 0.12 0 0
CUI: C0086648
Disease: MPS III B
MPS III B 		13 0 4 0.12 0 0
CUI: C1855418
Disease: Thoracolumbar kyphosis
Thoracolumbar kyphosis 		13 0 4 0.12 0 0
CUI: C0023794
Disease: Lipoidosis
Lipoidosis 		44 0 7 0.11 0 0
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		25 0 5 0.11 0 0
CUI: C1856560
Disease: Bone-marrow foam cells
Bone-marrow foam cells 		5 0 3 0.11 0 0
CUI: C2047520
Disease: Mixed hyperlipidemia (disorder)
Mixed hyperlipidemia (disorder) 		6 0 3 0.11 0 0
CUI: C0037899
Disease: Sphingolipidoses
Sphingolipidoses 		17 0 4 0.11 0 0
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		19 0 4 1.0E-01 0 0
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		143 0 15 9.8E-02 0 0
CUI: C1843366
Disease: NIEMANN-PICK DISEASE, TYPE C2
NIEMANN-PICK DISEASE, TYPE C2 		9 0 3 9.7E-02 0 0
CUI: C0151691
Disease: Decreased HDL cholesterol concentration
Decreased HDL cholesterol concentration 		12 0 3 8.8E-02 0 0
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		26 0 4 8.5E-02 0 0