ANTXR2, ANTXR cell adhesion molecule 2, 118429

N. diseases: 143; N. variants: 27
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4333130
rs4333130
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.820 GeneticVariation BEFREE The association between ANTXR2 rs4333130 and AS was independent of HLA-B27 status. 26590821 2016
dbSNP: rs4333130
rs4333130
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.820 GeneticVariation BEFREE The strongest haplotype association was observed with rs4690127-rs6823031-rs4333130 (P = 2.5 × 10(-4)). rs6534639 and rs4333130 showed a cis-interaction (P = 0.027) in AS. 26728147 2016
dbSNP: rs4333130
rs4333130
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.820 GeneticVariation GWASDB Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. 20062062 2010
dbSNP: rs4333130
rs4333130
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.820 GeneticVariation GWASCAT Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. 20062062 2010
dbSNP: rs4389526
rs4389526
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.810 GeneticVariation BEFREE Taken together, this study shows no association between ANTXR2 polymorphisms and AS susceptibility in a Chinese Han population, but meta-analysis showed that rs4389526 in the ANTXR2 gene was weakly associated with AS susceptibility in both Caucasian and Chinese Han patients. 30255098 2018
dbSNP: rs4389526
rs4389526
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C0038013
Disease:
Ankylosing spondylitis 		A 0.810 GeneticVariation GWASCAT Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. 21743469 2011
dbSNP: rs4389526
rs4389526
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C0038013
Disease:
Ankylosing spondylitis 		A 0.810 GeneticVariation GWASDB Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. 21743469 2011
dbSNP: rs137852902
rs137852902
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C2745948
Disease:
Hyalinosis, Systemic 		0.810 GeneticVariation UNIPROT Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant. 15725249 2005
dbSNP: rs137852902
rs137852902
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C2745948
Disease:
Hyalinosis, Systemic 		0.810 GeneticVariation UNIPROT The JHF family-specific homoallelic missense mutation G105D destabilizes a von Willebrand factor A extracellular domain alpha-helix, whereas the other mutation, L329R, occurs within the transmembrane domain of the protein. 12973667 2003
dbSNP: rs137852902
rs137852902
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C2745948
Disease:
Hyalinosis, Systemic 		0.810 GeneticVariation UNIPROT Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. 14508707 2003
dbSNP: rs137852902
rs137852902
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C2745948
Disease:
Hyalinosis, Systemic 		0.810 GeneticVariation BEFREE The JHF family-specific homoallelic missense mutation G105D destabilizes a von Willebrand factor A extracellular domain alpha-helix, whereas the other mutation, L329R, occurs within the transmembrane domain of the protein. 12973667 2003
dbSNP: rs137852902
rs137852902
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C2745948
Disease:
Hyalinosis, Systemic 		T 0.810 CausalMutation CLINVAR
dbSNP: rs137852901
rs137852901
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C2745948
Disease:
Hyalinosis, Systemic 		0.800 GeneticVariation UNIPROT Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant. 15725249 2005
dbSNP: rs137852903
rs137852903
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C2745948
Disease:
Hyalinosis, Systemic 		0.800 GeneticVariation UNIPROT Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant. 15725249 2005
dbSNP: rs137852905
rs137852905
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C2745948
Disease:
Hyalinosis, Systemic 		0.800 GeneticVariation UNIPROT Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant. 15725249 2005
dbSNP: rs137852901
rs137852901
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C2745948
Disease:
Hyalinosis, Systemic 		0.800 GeneticVariation UNIPROT Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. 12973667 2003
dbSNP: rs137852901
rs137852901
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C2745948
Disease:
Hyalinosis, Systemic 		0.800 GeneticVariation UNIPROT Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. 14508707 2003
dbSNP: rs137852903
rs137852903
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C2745948
Disease:
Hyalinosis, Systemic 		0.800 GeneticVariation UNIPROT Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. 14508707 2003
dbSNP: rs137852903
rs137852903
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C2745948
Disease:
Hyalinosis, Systemic 		0.800 GeneticVariation UNIPROT The JHF family-specific homoallelic missense mutation G105D destabilizes a von Willebrand factor A extracellular domain alpha-helix, whereas the other mutation, L329R, occurs within the transmembrane domain of the protein. 12973667 2003
dbSNP: rs137852905
rs137852905
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C2745948
Disease:
Hyalinosis, Systemic 		0.800 GeneticVariation UNIPROT Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. 14508707 2003
dbSNP: rs137852905
rs137852905
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C2745948
Disease:
Hyalinosis, Systemic 		0.800 GeneticVariation UNIPROT An ISH compound mutation, I189T, is predicted to create a novel and destabilizing internal cavity within the protein. 12973667 2003
dbSNP: rs137852901
rs137852901
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C2745948
Disease:
Hyalinosis, Systemic 		C 0.800 CausalMutation CLINVAR
dbSNP: rs137852903
rs137852903
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C2745948
Disease:
Hyalinosis, Systemic 		C 0.800 CausalMutation CLINVAR
dbSNP: rs137852905
rs137852905
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C2745948
Disease:
Hyalinosis, Systemic 		G 0.800 CausalMutation CLINVAR
dbSNP: rs12499307
rs12499307
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019