Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.110 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.110 GeneticVariation BEFREE Here we show that a 52-year-old postmenopausal woman with severe osteopenia and a compression fracture of a thoracic vertebra had a mutation in the gene for the alpha 2(I) chain of type I collagen (COL1A2) similar to mutations that cause OI. cDNA was prepared from the woman's skin fibroblast RNA and assayed for the presence of a mutation by treating DNA heteroduplexes with carbodiimide. 2052622

1991