UMLS. CSP-HL7-ICD9CM-NCI-NDFRT-RXNORM
%
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
A A A+ A- A0 A1 A2 A3 A4 A5 A6 A7 A8 A9 AA AB AC AD AE AF AG AH AI AJ AK AL AM AN AO AP AQ AR AS AT AU AV AW AX AY AZ
AL AL- AL7 ALA ALB ALC ALD ALE ALF ALG ALH ALI ALK ALL ALM ALN ALO ALP ALR ALS ALT ALU ALV ALW ALZ

Alpha 1 Type I Collagen

[Collagen I (Alpha 1), encoded by the COL1A1 gene, is the major component of type I collagen, the fibrillar collagen found in most connective tissues, and the only component of the collagen found in cartilage. Mutations in this gene are associated with osteogenesis imperfecta, Ehlers-Danlos syndrome, and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. (from LocusLink) ( NCI )]
UMLS (NCI) C0972255
COL1A1
Collagen Alpha 1(I) Chain
Collagen I (Alpha 1)
Collagen I, Alpha-1 Polypeptide
Collagen of Skin, Tendon and Bone, Alpha-1 Chain
Collagen of Skin, Tendon, and Bone, Alpha-1 Chain
Collagen, Type I, Alpha 1
Osteogenesis Imperfecta Type IV
 
Amino Acid, Peptide, or Protein
Biologically Active Substance

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