rs137852902, ANTXR2

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyalinosis, Systemic
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
Hyalinosis, Systemic
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
Hyalinosis, Systemic
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
Hyalinosis, Systemic
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
Hyalinosis, Systemic
CUI: C2745948
Disease: Hyalinosis, Systemic
0.810 CausalMutation CLINVAR