MCID: CL1004
MIFTS: 23

Col1a1/2-Related Osteogenesis Imperfecta malady

Categories: Genetic diseases (common), Bone diseases

Aliases & Classifications for Col1a1/2-Related Osteogenesis Imperfecta

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Aliases & Descriptions for Col1a1/2-Related Osteogenesis Imperfecta:

Name: Col1a1/2-Related Osteogenesis Imperfecta 21 22
Brittle Bone Disease 21 22
Oi 21 22
 
Osteogenesis Imperfecta 65
Col1a1/2-Related Oi 22

Classifications:



Summaries for Col1a1/2-Related Osteogenesis Imperfecta

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MalaCards based summary: Col1a1/2-Related Osteogenesis Imperfecta, also known as brittle bone disease, is related to osteogenesis imperfecta, type iv and osteogenesis imperfecta, type iii. An important gene associated with Col1a1/2-Related Osteogenesis Imperfecta is COL1A1 (Collagen Type I Alpha 1), and among its related pathways are ECM-receptor interaction and Binding and Uptake of Ligands by Scavenger Receptors. The drugs calcitonin and salmon calcitonin have been mentioned in the context of this disorder. Affiliated tissues include bone.

GeneReviews summary for NBK1295

Related Diseases for Col1a1/2-Related Osteogenesis Imperfecta

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Graphical network of the top 20 diseases related to Col1a1/2-Related Osteogenesis Imperfecta:



Diseases related to col1a1/2-related osteogenesis imperfecta

Symptoms for Col1a1/2-Related Osteogenesis Imperfecta

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Drugs & Therapeutics for Col1a1/2-Related Osteogenesis Imperfecta

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Col1a1/2-Related Osteogenesis Imperfecta

Inferred drug relations via UMLS65/NDF-RT43:

Genetic Tests for Col1a1/2-Related Osteogenesis Imperfecta

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Genetic tests related to Col1a1/2-Related Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Col1a1/2-Related Osteogenesis Imperfecta22 COL1A1, COL1A2

Anatomical Context for Col1a1/2-Related Osteogenesis Imperfecta

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MalaCards organs/tissues related to Col1a1/2-Related Osteogenesis Imperfecta:

33
Bone

Animal Models for Col1a1/2-Related Osteogenesis Imperfecta or affiliated genes

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Publications for Col1a1/2-Related Osteogenesis Imperfecta

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Articles related to Col1a1/2-Related Osteogenesis Imperfecta:

idTitleAuthorsYear
1
MTHFR genetic polymorphisms and susceptibility to childhood acute lymphoblastic leukemia. (16172254)
2005

Variations for Col1a1/2-Related Osteogenesis Imperfecta

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Expression for genes affiliated with Col1a1/2-Related Osteogenesis Imperfecta

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Search GEO for disease gene expression data for Col1a1/2-Related Osteogenesis Imperfecta.

Pathways for genes affiliated with Col1a1/2-Related Osteogenesis Imperfecta

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Pathways related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

(show all 18)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1COL1A1, COL1A2
2
Show member pathways
9.1COL1A1, COL1A2
39.1COL1A1, COL1A2
49.1COL1A1, COL1A2
5
Show member pathways
9.1COL1A1, COL1A2
6
Show member pathways
9.1COL1A1, COL1A2
7
Show member pathways
9.1COL1A1, COL1A2
8
Show member pathways
9.1COL1A1, COL1A2
99.1COL1A1, COL1A2
109.1COL1A1, COL1A2
119.1COL1A1, COL1A2
129.1COL1A1, COL1A2
139.1COL1A1, COL1A2
149.1COL1A1, COL1A2
159.1COL1A1, COL1A2
169.1COL1A1, COL1A2
179.1COL1A1, COL1A2
189.1COL1A1, COL1A2

GO Terms for genes affiliated with Col1a1/2-Related Osteogenesis Imperfecta

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Cellular components related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:00055849.1COL1A1, COL1A2

Biological processes related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:00301689.4COL1A1, COL1A2
2blood coagulationGO:00075969.4COL1A1, COL1A2
3collagen catabolic processGO:00305749.2COL1A1, COL1A2
4cellular response to amino acid stimulusGO:00712309.1COL1A1, COL1A2
5extracellular matrix disassemblyGO:00226179.1COL1A1, COL1A2
6leukocyte migrationGO:00509009.0COL1A1, COL1A2
7skin morphogenesisGO:00435898.8COL1A1, COL1A2

Sources for Col1a1/2-Related Osteogenesis Imperfecta

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet