HYAL1, hyaluronidase 1, 3373

N. diseases: 58; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11130248
rs11130248
Entrez Id: 3373
Gene Symbol: HYAL1
HYAL1
CUI: C0022548
Disease:
Keloid 		0.800 GeneticVariation GWASDB A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population. 20711176 2010
dbSNP: rs11130248
rs11130248
Entrez Id: 3373
Gene Symbol: HYAL1
HYAL1
CUI: C0022548
Disease:
Keloid 		0.800 GeneticVariation GWASCAT A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population. 20711176 2010
dbSNP: rs34136796
rs34136796
Entrez Id: 3373;8372;24142
Gene Symbol: HYAL1;HYAL3;NAA80
HYAL1;HYAL3;NAA80
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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
dbSNP: rs1377666593
rs1377666593
Entrez Id: 3373;8372;24142
Gene Symbol: HYAL1;HYAL3;NAA80
HYAL1;HYAL3;NAA80
CUI: C0030567
Disease:
Parkinson Disease 		0.010 GeneticVariation BEFREE Further, cases carrying combination of heterozygous genotypes of CYP2D6*4 or CYP2D6*10A(188C > T) and NAT2*5 were found to be at significantly higher risk for PD demonstrating the importance of gene-gene interactions in determining susceptibility to PD. 20364044 2010