HYAL1, hyaluronidase 1, 3373

N. diseases: 58; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses
0.020 Biomarker disease BEFREE This suggests that Hyal2 knockdown exhibits mucopolysaccharidosis-like OA change in articular cartilage similar to Hyal1 knockdown. 28765635 2017
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses
0.020 AlteredExpression disease BEFREE In the present study, we surveyed a variety of patients with phenotypes similar to those observed in MPS, but without significant mucopolysacchariduria to determine if some are based on aberrations in serum hyaluronidase (Hyal-1) activity. 16311883 2005