COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Abnormal type II collagen ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4020803
Disease: Abnormal type II collagen
Abnormal type II collagen 		0.010 Biomarker disease BEFREE The genetic alteration found in this patient suggested that this prevented the normal splicing of COL2A1, resulting in an abnormal type II collagen product. 14644246 2003