Source: BEFREE ×
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 		14 7 9 0.41 4 0.29
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		18 0 7 0.25 0 0
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		4 1 4 0.24 1 9.1E-02
CUI: C2713321
Disease: alpha-L-Iduronidase Deficiency
alpha-L-Iduronidase Deficiency 		4 0 4 0.24 0 0
CUI: C0850673
Disease: congenital metabolic disorder
congenital metabolic disorder 		5 0 4 0.22 0 0
CUI: C0521719
Disease: Clouding of corneal stroma
Clouding of corneal stroma 		8 0 4 0.19 0 0
CUI: C1855418
Disease: Thoracolumbar kyphosis
Thoracolumbar kyphosis 		8 0 4 0.19 0 0
CUI: C3258293
Disease: Valvular disease
Valvular disease 		10 0 4 0.17 0 0
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		24 0 6 0.17 0 0
CUI: C0086648
Disease: MPS III B
MPS III B 		11 0 4 0.17 0 0
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		11 2 4 0.17 1 8.3E-02
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		12 0 4 0.16 0 0
CUI: C3825414
Disease: Pain in children
Pain in children 		12 0 4 0.16 0 0
CUI: C0037926
Disease: Compression of spinal cord
Compression of spinal cord 		28 0 6 0.15 0 0
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		26 0 5 0.13 0 0
CUI: C0009918
Disease: Contracture of joint
Contracture of joint 		35 0 6 0.13 0 0
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		2 0 2 0.12 0 0
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases 		22 0 4 0.11 0 0
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		43 0 6 0.11 0 0
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		48 0 6 0.10 0 0
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		6 0 2 9.5E-02 0 0
CUI: C2718068
Disease: beta-Galactosidase Deficiency
beta-Galactosidase Deficiency 		6 0 2 9.5E-02 0 0
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		19 0 3 9.1E-02 0 0
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI 		8 0 2 8.7E-02 0 0
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		24 0 3 7.9E-02 0 0