ANTXR2, ANTXR cell adhesion molecule 2, 118429

N. diseases: 143; N. variants: 27
Disease: Arthralgia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.110 Biomarker phenotype BEFREE Loss-of-function mutations in capillary morphogenesis gene 2 (CMG2/ANTXR2), a transmembrane surface protein, cause hyaline fibromatosis syndrome (HFS), a severe genetic disorder that is characterized by large subcutaneous nodules, gingival hypertrophy and severe painful joint contracture. 28604699 2017
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.110 CausalMutation phenotype CLINVAR