Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
OVERLAP CONNECTIVE TISSUE DISEASE
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
0.010 GeneticVariation BEFREE Like the previously reported mutation (G171V) that causes the high-bone-mass phenotype, all mutations are located in the aminoterminal part of the gene, before the first epidermal growth factor-like domain. 12579474 2003