Details
| Type | Protein Coding |
| Official Symbol | COL11A2 |
| Official Name | collagen type XI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2187] |
| Ensembl ID | ENSG00000235708 |
| Bio databases IDs | |
| Aliases | collagen type XI alpha 2 chain |
| Species | Human, Homo sapiens |
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
phenotypes
- DEAFNESS AUTOSOMAL DOMINANT 13
- DEAFNESS AUTOSOMAL RECESSIVE 53
- FIBROCHONDROGENESIS 2
- OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA AUTOSOMAL DOMINANT
- OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA AUTOSOMAL RECESSIVE
- AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA
- DEAFNESS AUTOSOMAL DOMINANT TYPE 13
- DEAFNESS AUTOSOMAL RECESSIVE TYPE 53
- STICKLER SYNDROME TYPE 3