Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia
1.000 GermlineCausalMutation ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135

2011

Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia
1.000 GermlineCausalMutation ORPHANET In one family with OSMED, a homozygous Gly-->Arg substitution has been described in COL11A2, which codes for the alpha2 chain of type XI collagen. 10677296

2000