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: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		5 20 5 0.31 9 0.21
CUI: C2713321
Disease: alpha-L-Iduronidase Deficiency
alpha-L-Iduronidase Deficiency 		4 0 4 0.25 0 0
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		36 90 10 0.24 23 0.23
CUI: C0850673
Disease: congenital metabolic disorder
congenital metabolic disorder 		5 0 4 0.24 0 0
CUI: C0521719
Disease: Clouding of corneal stroma
Clouding of corneal stroma 		8 0 4 0.20 0 0
CUI: C3258293
Disease: Valvular disease
Valvular disease 		10 0 4 0.18 0 0
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		12 0 4 0.17 0 0
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		19 0 5 0.17 0 0
CUI: C3825414
Disease: Pain in children
Pain in children 		12 0 4 0.17 0 0
CUI: C0086648
Disease: MPS III B
MPS III B 		13 0 4 0.16 0 0
CUI: C1855418
Disease: Thoracolumbar kyphosis
Thoracolumbar kyphosis 		13 0 4 0.16 0 0
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases 		25 0 5 0.14 0 0
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		25 0 5 0.14 0 0
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		26 0 5 0.14 0 0
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		2 16 2 0.12 8 0.21
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		48 0 7 0.12 0 0
CUI: C0345992
Disease: Pilar tumor
Pilar tumor 		3 0 2 0.12 0 0
CUI: C0563211
Disease: Carcinoma of anal canal
Carcinoma of anal canal 		4 0 2 0.11 0 0
CUI: C0009918
Disease: Contracture of joint
Contracture of joint 		36 0 5 0.11 0 0
CUI: C0022594
Disease: Keratosis Blennorrhagica
Keratosis Blennorrhagica 		5 0 2 0.11 0 0
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		5 0 2 0.11 0 0
CUI: C0086501
Disease: Keratoma
Keratoma 		5 0 2 0.11 0 0
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		6 0 2 1.0E-01 0 0
CUI: C0302180
Disease: Condyloma
Condyloma 		40 0 5 9.8E-02 0 0
CUI: C0851135
Disease: In situ cancer
In situ cancer 		8 0 2 9.1E-02 0 0