HYAL1, hyaluronidase 1, 3373

N. diseases: 58; N. variants: 5
Disease: Hyaluronidase Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893743
rs104893743
Entrez Id: 3373
Gene Symbol: HYAL1
HYAL1
CUI: C1291490
Disease:
Hyaluronidase Deficiency 		0.700 GeneticVariation 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
dbSNP: rs1553713075
rs1553713075
Entrez Id: 3373
Gene Symbol: HYAL1
HYAL1
CUI: C1291490
Disease:
Hyaluronidase Deficiency 		CGGGCCACACGGAA 0.700 CausalMutation CLINVAR