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 0.33 0 0
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome
5 0 4 0.31 0 0
CUI: C0850673
Disease: congenital metabolic disorder
congenital metabolic disorder
5 0 4 0.31 0 0
CUI: C0521719
Disease: Clouding of corneal stroma
Clouding of corneal stroma
8 0 4 0.25 0 0
CUI: C3258293
Disease: Valvular disease
Valvular disease
10 0 4 0.22 0 0
CUI: C3825414
Disease: Pain in children
Pain in children
12 0 4 0.20 0 0
CUI: C0086648
Disease: MPS III B
MPS III B
13 0 4 0.19 0 0
CUI: C1855418
Disease: Thoracolumbar kyphosis
Thoracolumbar kyphosis
13 0 4 0.19 0 0
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
16 0 4 0.17 0 0
CUI: C3151343
Disease: SPINOCEREBELLAR ATAXIA 32
SPINOCEREBELLAR ATAXIA 32
2 0 2 0.17 0 0
CUI: C0032586
Disease: Polyradiculopathy
Polyradiculopathy
3 0 2 0.15 0 0
CUI: C0268641
Disease: Amino acid transport disorder
Amino acid transport disorder
3 0 2 0.15 0 0
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A
19 0 4 0.15 0 0
CUI: C0349390
Disease: Non-fluent aphasia
Non-fluent aphasia
4 0 2 0.14 0 0
AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)
4 0 2 0.14 0 0
Hexosaminidase alpha-Subunit Deficiency (Variant B)
4 0 2 0.14 0 0
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY
4 0 2 0.14 0 0
CUI: C2146481
Disease: Bilateral vocal cord paralysis
Bilateral vocal cord paralysis
4 0 2 0.14 0 0
CUI: C0282550
Disease: Persian Gulf Syndrome
Persian Gulf Syndrome
5 0 2 0.13 0 0
CUI: C0917814
Disease: Aphasia, Expressive
Aphasia, Expressive
5 0 2 0.13 0 0
CUI: C3825276
Disease: Stereotyped behavior (Psychiatry)
Stereotyped behavior (Psychiatry)
5 0 2 0.13 0 0
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases
25 0 4 0.12 0 0
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA
25 0 4 0.12 0 0
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
26 0 4 0.12 0 0
CUI: C0393547
Disease: Bulbospinal Neuronopathy
Bulbospinal Neuronopathy
7 0 2 0.12 0 0