Disease-gene associations mined from literature

Literature associating COL2A1 and metaphyseal dysplasia

COL2A1 [ENSP00000369889]

Collagen alpha-1(II) chain; Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.

Synonyms:  COL2A1,  COL2A1p,  hCOL2A1,  P02458,  P02458p ...

Linkouts:  STRING  Pharos  UniProt  OMIM