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: C0086650
Disease: MPS III D
MPS III D 		4 0 4 0.31 0 0
CUI: C1868556
Disease: Ovoid thoracolumbar vertebrae
Ovoid thoracolumbar vertebrae 		4 0 4 0.31 0 0
CUI: C2713321
Disease: alpha-L-Iduronidase Deficiency
alpha-L-Iduronidase Deficiency 		4 0 4 0.31 0 0
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		5 0 4 0.29 0 0
CUI: C0850673
Disease: congenital metabolic disorder
congenital metabolic disorder 		5 0 4 0.29 0 0
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		25 69 8 0.27 1 6.3E-03
CUI: C0086649
Disease: MPS III C
MPS III C 		6 0 4 0.27 0 0
CUI: C0426820
Disease: Thick rib
Thick rib 		6 0 4 0.27 0 0
CUI: C1854827
Disease: Heparan sulfate excretion in urine
Heparan sulfate excretion in urine 		7 0 4 0.25 0 0
CUI: C0521719
Disease: Clouding of corneal stroma
Clouding of corneal stroma 		8 0 4 0.24 0 0
CUI: C1854834
Disease: Dense calvaria
Dense calvaria 		3 0 3 0.23 0 0
CUI: C3258293
Disease: Valvular disease
Valvular disease 		10 0 4 0.21 0 0
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		36 0 8 0.20 0 0
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		12 0 4 0.19 0 0
CUI: C3825414
Disease: Pain in children
Pain in children 		12 0 4 0.19 0 0
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		19 0 5 0.19 0 0
CUI: C1855418
Disease: Thoracolumbar kyphosis
Thoracolumbar kyphosis 		13 0 4 0.18 0 0
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		16 0 4 0.16 0 0
CUI: C0554309
Disease: Prerenal uremia syndrome
Prerenal uremia syndrome 		9 0 3 0.16 0 0
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		17 15 4 0.15 4 3.9E-02
CUI: C4025583
Disease: Cellular metachromasia
Cellular metachromasia 		2 0 2 0.15 0 0
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		48 0 8 0.15 0 0
CUI: C1404837
Disease: Drug-induced Nephropathy
Drug-induced Nephropathy 		12 0 3 0.14 0 0
CUI: C0522051
Disease: Acute chest pain
Acute chest pain 		13 0 3 0.13 0 0
CUI: C0878681
Disease: Dent's disease
Dent's disease 		23 0 4 0.12 0 0