HYAL1, hyaluronidase 1, 3373

N. diseases: 58; N. variants: 5
Disease: Hyaluronidase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1291490
Disease: Hyaluronidase Deficiency
Hyaluronidase Deficiency 		0.900 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1291490
Disease: Hyaluronidase Deficiency
Hyaluronidase Deficiency 		0.900 Biomarker disease GENOMICS_ENGLAND Biology of hyaluronan: Insights from genetic disorders of hyaluronan metabolism. 26322170 2015
CUI: C1291490
Disease: Hyaluronidase Deficiency
Hyaluronidase Deficiency 		0.900 Biomarker disease MGD A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis. 18344557 2008
CUI: C1291490
Disease: Hyaluronidase Deficiency
Hyaluronidase Deficiency 		0.900 Biomarker disease GENOMICS_ENGLAND Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. 10339581 1999
CUI: C1291490
Disease: Hyaluronidase Deficiency
Hyaluronidase Deficiency 		0.900 GermlineCausalMutation disease ORPHANET Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. 10339581 1999
CUI: C1291490
Disease: Hyaluronidase Deficiency
Hyaluronidase Deficiency 		0.900 GeneticVariation disease UNIPROT Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. 10339581 1999
CUI: C1291490
Disease: Hyaluronidase Deficiency
Hyaluronidase Deficiency 		0.900 Biomarker disease GENOMICS_ENGLAND Clinical and biochemical manifestations of hyaluronidase deficiency. 8793927 1996
CUI: C1291490
Disease: Hyaluronidase Deficiency
Hyaluronidase Deficiency 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1291490
Disease: Hyaluronidase Deficiency
Hyaluronidase Deficiency 		0.900 CausalMutation disease CLINVAR
CUI: C1291490
Disease: Hyaluronidase Deficiency
Hyaluronidase Deficiency 		0.900 Biomarker disease CTD_human