Terminology Service for NFDI4Health
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COL1A1 Gene

Go to external page http://purl.obolibrary.org/obo/NCIT_C29949

This gene plays an important structural role in cartilage and mutations in the gene are associated with osteogenesis imperfecta. [ ]

Term info

Label

COL1A1 Gene

Synonyms
  • COL1A1
  • COL1A1 Gene
  • Collagen Type I Alpha 1 Chain Gene
Subsets

NCIT_C116977, NCIT_C142801, NCIT_C142800, NCIT_C142799

Display Name

COL1A1 Gene

HGNC ID

HGNC:2197

Legacy Concept Name

COL1A1_Gene

Maps To

COL1A1

OMIM Number

120150

Preferred Name

COL1A1 Gene

Semantic Type

Gene or Genome

UMLS CUI

C1332772

code

C29949