OI
MCID: CL1004
MIFTS: 31

Col1a1/2-Related Osteogenesis Imperfecta (OI) malady

Bone diseases category

Summaries for Col1a1/2-Related Osteogenesis Imperfecta

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19GeneReviews, 32MalaCards
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MalaCards: Col1a1/2-Related Osteogenesis Imperfecta, also known as osteogenesis imperfecta, is related to osteogenesis imperfecta type i and osteogenesis imperfecta type iii. An important gene associated with Col1a1/2-Related Osteogenesis Imperfecta is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Development Angiotensin activation of ERK and Development Endothelin-1/EDNRA signaling. The drugs calcitonin and salmon calcitonin and the compounds Collagenase and nppa have been mentioned in the context of this disorder. Affiliated tissues include bone.

GeneReviews summary for oi

Aliases & Classifications for Col1a1/2-Related Osteogenesis Imperfecta

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60UMLS, 19GeneReviews, 20GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases


Aliases & Descriptions:

col1a1/2-related osteogenesis imperfecta 19 20
osteogenesis imperfecta 60
brittle bone disease 19
oi 19


Related Diseases for Col1a1/2-Related Osteogenesis Imperfecta

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17GeneCards, 18GeneDecks
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Diseases related to Col1a1/2-Related Osteogenesis Imperfecta via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta type i31.8COL1A1, COL1A2
2osteogenesis imperfecta type iii31.4COL1A2, COL1A1
3dentinogenesis imperfecta31.2COL1A2, COL1A1
4osteogenesis imperfecta, type ii30.8COL1A2, COL1A1
5osteogenesis imperfecta type 430.8COL1A1, COL1A2
6ehlers-danlos syndrome30.8COL1A2, COL1A1
7osteoporosis30.8COL1A1, COL1A2
8osteogenesis imperfecta30.5COL1A2, COL1A1
9otosclerosis30.3COL1A1, COL1A2
10connective tissue disease30.1COL1A1, COL1A2
11osteogenesis imperfecta type 610.7
12bone fracture10.6
13osteogenesis imperfecta type 510.6
14osteogenesis imperfecta type 910.6
15osteogenesis imperfecta type 810.5
16osteogenesis imperfecta type xiii10.5
17osteogenesis imperfecta type 710.5
18osteogenesis imperfecta type 2a10.5
19osteogenesis imperfecta type xi10.5
20osteogenesis imperfecta type xii10.5
21collagen disease10.4
22osteogenesis imperfecta levin type10.4
23osteogenesis imperfecta type 1a10.4
24osteogenesis imperfecta type x10.4
25osteogenesis imperfecta, type xiv10.4
26osteogenesis imperfecta type 2b10.4
27osteogenesis imperfecta, type xv10.4
28congenital osteogenesis imperfecta - microcephaly - cataracts10.4
29high bone mass osteogenesis imperfecta10.4
30reflex sympathetic dystrophy10.3
31osteonecrosis10.3
32type i ehlers-danlos syndrome10.3
33cerebritis10.3
34spondylolysis10.3
35hypophosphatasia10.3
36breast cancer10.3
37dentinogenesis imperfecta 110.3
38osteoporosis-pseudoglioma syndrome10.3
39crtap-related osteogenesis imperfecta10.3
40ehlers-danlos/osteogenesis imperfecta syndrome10.3
41postural orthostatic tachycardia syndrome10.3
42spondylolisthesis10.2
43thanatophoric dysplasia10.2
44fibrous dysplasia10.2
45n syndrome10.2
46idiopathic juvenile osteoporosis10.2
47aortic aneurysm10.2
48hydrocephalus10.2
49al gazali sabrinathan nair syndrome10.2
50cole carpenter syndrome10.2

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



Diseases related to col1a1/2-related osteogenesis imperfecta

Clinical Features for Col1a1/2-Related Osteogenesis Imperfecta

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Drugs & Therapeutics for Col1a1/2-Related Osteogenesis Imperfecta

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Col1a1/2-Related Osteogenesis Imperfecta

Drug clinical trials:

Search ClinicalTrials for Col1a1/2-Related Osteogenesis Imperfecta

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

Search CenterWatch for Col1a1/2-Related Osteogenesis Imperfecta

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Col1a1/2-Related Osteogenesis Imperfecta

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20GeneTests
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Genetic tests related to Col1a1/2-Related Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Col1a1/2-Related Osteogenesis Imperfecta20 COL1A1, COL1A2

Anatomical Context for Col1a1/2-Related Osteogenesis Imperfecta

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32MalaCards
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MalaCards organs/tissues related to Col1a1/2-Related Osteogenesis Imperfecta:

32
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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50PubMed
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Articles related to Col1a1/2-Related Osteogenesis Imperfecta:

idTitleAuthorsYear
1
COL1A1/2-Related Osteogenesis Imperfecta (20301472)
1993

Genetic 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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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Col1a1/2-Related Osteogenesis Imperfecta

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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Sources:
12EMD Millipore, 53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 29KEGG, 49PharmGKB
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Pathways related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 25)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1COL1A1, COL1A2
2
Development Endothelin-1/EDNRA signaling
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9.1COL1A2, COL1A1
3
Cell adhesion Integrin-mediated cell adhesion and migration
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9.1COL1A2, COL1A1
49.1COL1A2, COL1A1
5
Cell adhesion ECM remodeling
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9.1COL1A1, COL1A2
6
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9.1COL1A1, COL1A2
7
Hide members
9.1COL1A1, COL1A2
8
Hide members
9.1COL1A1, COL1A2
9
Hide members
9.1COL1A1, COL1A2
109.1COL1A2, COL1A1
11
Hide members
9.1COL1A2, COL1A1
129.1COL1A1, COL1A2
139.1COL1A1, COL1A2
149.1COL1A2, COL1A1
159.1COL1A2, COL1A1
169.1COL1A1, COL1A2
179.1COL1A1, COL1A2
189.1COL1A2, COL1A1
199.1COL1A1, COL1A2
20
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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9.1COL1A2, COL1A1
21
Hide members
9.1COL1A1, COL1A2
229.1COL1A2, COL1A1
239.1COL1A2, COL1A1
24
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
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9.1COL1A1, COL1A2
259.1COL1A2, COL1A1

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

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Sources:
11DrugBank, 44Novoseek, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB, 24HMDB, 2BitterDB
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Compounds related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1Collagenase119.4COL1A2, COL1A1
2nppa449.4COL1A1, COL1A2
3carbodiimide449.4COL1A1, COL1A2
4nppb44 59 2811.4COL1A1, COL1A2
5xbai449.4COL1A1, COL1A2
6ecori449.4COL1A2, COL1A1
7rsai449.3COL1A1, COL1A2
8mspi449.3COL1A2, COL1A1
9procollagen449.3COL1A1, COL1A2
10simvastatin44 49 59 28 11 2414.2COL1A1, COL1A2
11chloramphenicol44 2 1111.2COL1A1, COL1A2
12ribonucleic acid449.1COL1A1, COL1A2
13aspartate449.1COL1A1, COL1A2
14vitamin d449.0COL1A1, COL1A2
15thymidine44 249.8COL1A2, COL1A1

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

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16Gene Ontology
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Cellular components related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.1COL1A1, COL1A2
2collagen type IGO:0055849.0COL1A1, COL1A2
3extracellular matrixGO:0310128.8COL1A1, COL1A2

Biological processes related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:0435899.4COL1A2, COL1A1
2protein heterotrimerizationGO:0702089.4COL1A2, COL1A1
3cellular response to amino acid stimulusGO:0712309.4COL1A2, COL1A1
4collagen fibril organizationGO:0301999.3COL1A2, COL1A1
5blood vessel developmentGO:0015689.3COL1A1, COL1A2
6collagen catabolic processGO:0305749.3COL1A2, COL1A1
7extracellular matrix disassemblyGO:0226179.2COL1A1, COL1A2
8leukocyte migrationGO:0509009.2COL1A2, COL1A1
9skeletal system developmentGO:0015019.1COL1A2, COL1A1
10blood coagulationGO:0075969.1COL1A1, COL1A2
11platelet activationGO:0301689.0COL1A1, COL1A2
12extracellular matrix organizationGO:0301988.8COL1A2, COL1A1

Molecular functions related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428029.1COL1A1, COL1A2
2platelet-derived growth factor bindingGO:0484079.0COL1A1, COL1A2
3extracellular matrix structural constituentGO:0052018.8COL1A1, COL1A2

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Col1a1/2-Related Osteogenesis Imperfecta

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet