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: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		16 31 10 0.24 23 0.23
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		25 0 11 0.22 0 0
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		19 0 9 0.20 0 0
CUI: C0086648
Disease: MPS III B
MPS III B 		13 0 8 0.20 0 0
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		48 0 13 0.18 0 0
CUI: C1854827
Disease: Heparan sulfate excretion in urine
Heparan sulfate excretion in urine 		7 0 6 0.16 0 0
CUI: C4024726
Disease: Mucopolysacchariduria
Mucopolysacchariduria 		8 0 6 0.16 0 0
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		19 0 7 0.15 0 0
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		130 0 21 0.14 0 0
CUI: C1855418
Disease: Thoracolumbar kyphosis
Thoracolumbar kyphosis 		13 0 6 0.14 0 0
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		5 20 5 0.14 11 0.11
CUI: C0426820
Disease: Thick rib
Thick rib 		6 0 5 0.14 0 0
CUI: C0521719
Disease: Clouding of corneal stroma
Clouding of corneal stroma 		8 0 5 0.13 0 0
CUI: C1836855
Disease: Vacuolated lymphocytes
Vacuolated lymphocytes 		8 0 5 0.13 0 0
CUI: C4317149
Disease: Vacuolated Lymphocyte Count
Vacuolated Lymphocyte Count 		8 0 5 0.13 0 0
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		17 0 6 0.13 0 0
CUI: C1865841
Disease: Flared iliac wings
Flared iliac wings 		19 0 6 0.12 0 0
CUI: C0086650
Disease: MPS III D
MPS III D 		4 0 4 0.11 0 0
CUI: C1868556
Disease: Ovoid thoracolumbar vertebrae
Ovoid thoracolumbar vertebrae 		4 0 4 0.11 0 0
CUI: C2713321
Disease: alpha-L-Iduronidase Deficiency
alpha-L-Iduronidase Deficiency 		4 0 4 0.11 0 0
CUI: C4021541
Disease: Anterior beaking of lumbar vertebrae
Anterior beaking of lumbar vertebrae 		4 0 4 0.11 0 0
CUI: C0850673
Disease: congenital metabolic disorder
congenital metabolic disorder 		5 0 4 0.11 0 0
CUI: C0086649
Disease: MPS III C
MPS III C 		6 38 4 0.11 1 7.9E-03
CUI: C2718068
Disease: beta-Galactosidase Deficiency
beta-Galactosidase Deficiency 		6 0 4 0.11 0 0
CUI: C0267971
Disease: Storage disease
Storage disease 		28 0 6 0.10 0 0