ASPN, asporin, 54829

N. diseases: 51; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3174352
rs3174352
Entrez Id: 54829;401541
Gene Symbol: ASPN;CENPP
ASPN;CENPP
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		A 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
dbSNP: rs41278695
rs41278695
Entrez Id: 54829;401541
Gene Symbol: ASPN;CENPP
ASPN;CENPP
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs7033979
rs7033979
Entrez Id: 54829;401541
Gene Symbol: ASPN;CENPP
ASPN;CENPP
CUI: C0003864
Disease:
Arthritis 		0.010 GeneticVariation BEFREE The two arthritis-susceptible candidate SNPs, rs7775 (p.Arg324Gly) in the FRZB gene and rs7033979 in the ASPN gene, showed associations with KBD (OR = 1.568, P = 4 × 10<sup>-3</sup> and OR = 0.744, P = 8 × 10<sup>-3</sup>, respectively). 28651521 2017
dbSNP: rs7033979
rs7033979
Entrez Id: 54829;401541
Gene Symbol: ASPN;CENPP
ASPN;CENPP
CUI: C2745963
Disease:
Kashin-Beck Disease 		0.010 GeneticVariation BEFREE These finding suggested that rs7775 in the FRZB gene may increase susceptibility to KBD, while rs7033979 in the ASPN gene may play a protective role in susceptibility to KBD in Tibetans. 28651521 2017
dbSNP: rs13301537
rs13301537
Entrez Id: 54829;401541
Gene Symbol: ASPN;CENPP
ASPN;CENPP
CUI: C0409959
Disease:
Osteoarthritis, Knee 		0.010 GeneticVariation BEFREE Our results showed that ASPN rs13301537 T to C change and variant C genotype may contribute to knee OA risk in a Chinese Han population. 25030405 2014
dbSNP: rs13301537
rs13301537
Entrez Id: 54829;401541
Gene Symbol: ASPN;CENPP
ASPN;CENPP
CUI: C0029408
Disease:
Degenerative polyarthritis 		0.010 GeneticVariation BEFREE The minor allele of ASPN SNP rs13301537 was associated with hand OA progression over 6 years (odds ratio (OR) (95% CI) 1.49 (1.06-2.07); P = 0.020). 23357225 2013