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: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		25 0 8 0.22 0 0
CUI: C2713321
Disease: alpha-L-Iduronidase Deficiency
alpha-L-Iduronidase Deficiency 		4 0 4 0.21 0 0
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		5 0 4 0.20 0 0
CUI: C0850673
Disease: congenital metabolic disorder
congenital metabolic disorder 		5 0 4 0.20 0 0
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		36 0 9 0.20 0 0
CUI: C0086648
Disease: MPS III B
MPS III B 		13 0 5 0.19 0 0
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		48 7 10 0.18 4 4.3E-02
CUI: C0521719
Disease: Clouding of corneal stroma
Clouding of corneal stroma 		8 0 4 0.17 0 0
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		16 0 5 0.17 0 0
CUI: C3258293
Disease: Valvular disease
Valvular disease 		10 0 4 0.16 0 0
CUI: C3179194
Disease: GALNS Deficiency
GALNS Deficiency 		3 0 3 0.16 0 0
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		4 0 3 0.15 0 0
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		12 0 4 0.15 0 0
CUI: C3825414
Disease: Pain in children
Pain in children 		12 0 4 0.15 0 0
CUI: C1855418
Disease: Thoracolumbar kyphosis
Thoracolumbar kyphosis 		13 0 4 0.14 0 0
CUI: C2718068
Disease: beta-Galactosidase Deficiency
beta-Galactosidase Deficiency 		6 0 3 0.14 0 0
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		26 0 5 0.12 0 0
CUI: C1846433
Disease: Prominent sternum
Prominent sternum 		8 0 3 0.12 0 0
CUI: C4024726
Disease: Mucopolysacchariduria
Mucopolysacchariduria 		8 0 3 0.12 0 0
CUI: C0009918
Disease: Contracture of joint
Contracture of joint 		36 0 6 0.12 0 0
CUI: C0149645
Disease: Cervical myelopathy
Cervical myelopathy 		12 0 3 0.11 0 0
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		23 0 4 0.11 0 0
CUI: C1854783
Disease: Grayish enamel
Grayish enamel 		2 0 2 0.11 0 0
CUI: C1854785
Disease: Constricted iliac wings
Constricted iliac wings 		2 0 2 0.11 0 0
CUI: C1854786
Disease: Epiphyseal deformities of tubular bones
Epiphyseal deformities of tubular bones 		2 0 2 0.11 0 0