Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		0.750 GermlineCausalMutation ORPHANET Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia. 23545312

2013
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		0.750 GermlineCausalMutation ORPHANET Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. 15316962

2004