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: C2713321
Disease: alpha-L-Iduronidase Deficiency
alpha-L-Iduronidase Deficiency 		4 0 4 0.80 0 0
CUI: C0850673
Disease: congenital metabolic disorder
congenital metabolic disorder 		5 0 4 0.67 0 0
CUI: C0521719
Disease: Clouding of corneal stroma
Clouding of corneal stroma 		8 0 4 0.44 0 0
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		2 16 2 0.40 7 0.24
CUI: C3258293
Disease: Valvular disease
Valvular disease 		10 0 4 0.36 0 0
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		16 31 5 0.31 9 0.21
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		12 0 4 0.31 0 0
CUI: C3825414
Disease: Pain in children
Pain in children 		12 0 4 0.31 0 0
CUI: C0086648
Disease: MPS III B
MPS III B 		13 0 4 0.29 0 0
CUI: C1855418
Disease: Thoracolumbar kyphosis
Thoracolumbar kyphosis 		13 0 4 0.29 0 0
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		19 0 4 0.20 0 0
CUI: C4479428
Disease: DIAMOND-BLACKFAN ANEMIA 17
DIAMOND-BLACKFAN ANEMIA 17 		1 0 1 0.20 0 0
CUI: C0751463
Disease: Nerve Root Compression
Nerve Root Compression 		2 0 1 0.17 0 0
CUI: C3826291
Disease: Gastroenteritis in children
Gastroenteritis in children 		2 0 1 0.17 0 0
CUI: C4025598
Disease: Urinary glycosaminoglycan excretion
Urinary glycosaminoglycan excretion 		2 0 1 0.17 0 0
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases 		25 0 4 0.15 0 0
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		25 0 4 0.15 0 0
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		26 0 4 0.15 0 0
CUI: C0236794
Disease: Panic disorder without agoraphobia
Panic disorder without agoraphobia 		3 0 1 0.14 0 0
CUI: C0549123
Disease: Large tonsils (finding)
Large tonsils (finding) 		3 0 1 0.14 0 0
CUI: C4725027
Disease: Refractory Acute Leukemia
Refractory Acute Leukemia 		3 0 1 0.14 0 0
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		36 90 5 0.14 11 0.11
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		4 0 1 0.12 0 0
CUI: C0852866
Disease: Cervical cord compression
Cervical cord compression 		4 0 1 0.12 0 0
CUI: C1856920
Disease: Hypoplasia of the femoral head
Hypoplasia of the femoral head 		4 0 1 0.12 0 0