Source: INFERRED

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 GeneticVariation CLINVAR Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. 11746045

2001
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		0.750 CausalMutation CLINVAR