Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781637328
rs781637328
ANTXR2
0.700 GeneticVariation UNIPROT Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant. 15725249

2005
dbSNP: rs781637328
rs781637328
ANTXR2
0.700 GeneticVariation UNIPROT Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. 12973667

2003
dbSNP: rs781637328
rs781637328
ANTXR2
0.700 GeneticVariation UNIPROT Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. 14508707

2003