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ACAN

aggrecan

gene with protein productOMIM: 1557604 заболевания
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)3
Spondyloepimetaphyseal dysplasia, aggrecan typeORPHA:171866
→
Familial osteochondritis dissecansORPHA:251262
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Spondyloepiphyseal dysplasia, Kimberley typeORPHA:93283
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Disease-causing germline mutation(s) (loss of function) in1
Short stature-advanced bone age-early-onset osteoarthritis syndromeORPHA:435804
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Данные: Orphadata (CC-BY-4.0)