Skip to
  1. Homepage
  2. Rare diseases
  3. Genes
Simple search

Simple search

*
(*) mandatory field




 

COL2A1 - collagen, type II, alpha 1

ORPHA120710
Synonym(s) AOM, arthroophthalmopathy, progressive (Stickler syndrome), Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), SEDC, STL1
Previous symbols and names _
Type gene with protein product
Chromosomal location 12q12-q13.2
OMIM
HGNC 2200
UniProtKB
Genatlas COL2A1
Ensembl ENSG00000139219
IUPHAR-DB -
Reactome P02458

Diseases list



 Assessed
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.