COL2A1
collagen type II alpha 1 chain
Ассоциированные заболевания
Герминативная мутация (причина)16
Legg-Calvé-Perthes diseaseORPHA:2380
→Spondyloepiphyseal dysplasia with metatarsal shorteningORPHA:137678
→Kniest dysplasiaORPHA:485
→Spondyloperipheral dysplasia-short ulna syndromeORPHA:1856
→Autosomal dominant rhegmatogenous retinal detachmentORPHA:209867
→Spondyloepiphyseal dysplasia, Stanescu typeORPHA:459051
→Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritisORPHA:93279
→Spondyloepimetaphyseal dysplasia congenita, Strudwick typeORPHA:93346
→Achondrogenesis type 2ORPHA:93296
→HypochondrogenesisORPHA:93297
→Spondylometaphyseal dysplasia, Schmidt typeORPHA:93316
→Stickler syndrome type 1ORPHA:90653
→DysspondyloenchondromatosisORPHA:85198
→Familial avascular necrosis of femoral headORPHA:86820
→Platyspondylic dysplasia, Torrance typeORPHA:85166
→Spondyloepiphyseal dysplasia congenitaORPHA:94068
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