OI
MCID: CL1004
MIFTS: 32

Col1a1/2-Related Osteogenesis Imperfecta (OI) malady

Genetic diseases (common), Bone diseases categories
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Summaries for Col1a1/2-Related Osteogenesis Imperfecta

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19GeneReviews, 33MalaCards
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MalaCards: Col1a1/2-Related Osteogenesis Imperfecta, also known as osteogenesis imperfecta, is related to osteogenesis imperfecta type 4 and osteogenesis imperfecta. An important gene associated with Col1a1/2-Related Osteogenesis Imperfecta is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Development Endothelin 1 EDNRA signaling and Development Angiotensin activation of ERK. The drugs calcitonin and salmon calcitonin and the compounds nppa and carbodiimide have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotype limbs/digits/tail.

GeneReviews summary for oi

Aliases & Classifications for Col1a1/2-Related Osteogenesis Imperfecta

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62UMLS, 19GeneReviews, 20GeneTests
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Classifications:

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


Aliases & Descriptions:

col1a1/2-related osteogenesis imperfecta 19 20
osteogenesis imperfecta 62
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 all 36)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta type 430.8COL1A2, COL1A1
2osteogenesis imperfecta30.6COL1A2, COL1A1
3osteogenesis imperfecta type i30.5COL1A2, COL1A1
4osteogenesis imperfecta type iii30.5COL1A1, COL1A2
5dentinogenesis imperfecta30.3COL1A2, COL1A1
6osteogenesis imperfecta, type ii30.2COL1A1, COL1A2
7osteoporosis29.8COL1A1, COL1A2
8osteogenesis imperfecta type 510.5
9osteogenesis imperfecta type 810.5
10osteogenesis imperfecta, type xiv10.4
11osteogenesis imperfecta, type xv10.4
12postural orthostatic tachycardia syndrome10.3
13osteogenesis imperfecta type 710.3
14osteogenesis imperfecta type 610.2
15osteogenesis imperfecta type xi10.2
16chronic orthostatic intolerance10.2
17osteogenesis imperfecta type 2a10.1
18osteogenesis imperfecta type 2b10.1
19osteogenesis imperfecta type 910.1
20osteogenesis imperfecta type x10.1
21osteogenesis imperfecta type xii10.1
22orthostatic intolerance10.1
23oi type ii10.1
24cole carpenter syndrome10.1
25osteogenesis imperfecta type xiii10.1
26ehlers–danlos syndrome classical type10.0COL1A2, COL1A1
27otosclerosis10.0COL1A1, COL1A2
28ehlers-danlos syndrome10.0COL1A1, COL1A2
29connective tissue disease10.0COL1A1, COL1A2
30pulmonary fibrosis10.0COL1A2, COL1A1
31osteoarthritis10.0COL1A2, COL1A1
32systemic scleroderma10.0COL1A2, COL1A1
33tooth agenesis10.0
34osteogenesis imperfecta type 1a10.0
35ehlers-danlos/osteogenesis imperfecta syndrome10.0
36high bone mass osteogenesis imperfecta10.0

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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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Col1a1/2-Related Osteogenesis Imperfecta

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

Inferred drug relations via UMLS62/NDF-RT41:

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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33MalaCards
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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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37MGI
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MGI Mouse Phenotypes related to Col1a1/2-Related Osteogenesis Imperfecta:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1COL1A2, COL1A1

Publications for Col1a1/2-Related Osteogenesis Imperfecta

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52PubMed
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Articles related to Col1a1/2-Related Osteogenesis Imperfecta:

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

Variations for Col1a1/2-Related Osteogenesis Imperfecta

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Col1a1/2-Related Osteogenesis Imperfecta:

1
id Gene Name Type Significance SNP ID Assembly Location
1COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524

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

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Sources:
2BioGPS, 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:
50PathCards, 60Thomson Reuters, 30KEGG, 55Reactome, 53QIAGEN, 38NCBI BioSystems Database, 51PharmGKB, 12EMD Millipore
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Pathways related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling FAK signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
9.1COL1A2, COL1A1
2
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.1COL1A1, COL1A2
3
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.1COL1A2, COL1A1
4
Show member pathways
9.1COL1A1, COL1A2
5
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
9.1COL1A2, COL1A1
6
Show member pathways
9.1COL1A2, COL1A1
7
Show member pathways
9.1COL1A2, COL1A1
89.1COL1A2, COL1A1
9
Show member pathways
9.1COL1A2, COL1A1
109.1COL1A1, COL1A2
119.1COL1A2, COL1A1
129.1COL1A2, COL1A1
139.1COL1A2, COL1A1
149.1COL1A1, COL1A2
15
Show member pathways
9.1COL1A2, COL1A1
16
Show member pathways
9.1COL1A2, COL1A1
179.1COL1A1, COL1A2
189.1COL1A2, COL1A1
19
Show member pathways
9.1COL1A2, COL1A1

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

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Sources:
45Novoseek, 29IUPHAR, 61Tocris Bioscience, 51PharmGKB, 24HMDB, 11DrugBank, 3BitterDB
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Compounds related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1nppa459.4COL1A2, COL1A1
2carbodiimide459.4COL1A2, COL1A1
3nppb29 45 6111.4COL1A2, COL1A1
4xbai459.4COL1A1, COL1A2
5ecori459.4COL1A2, COL1A1
6rsai459.4COL1A2, COL1A1
7mspi459.3COL1A2, COL1A1
8procollagen459.3COL1A1, COL1A2
9simvastatin45 51 61 29 24 1114.3COL1A2, COL1A1
10chloramphenicol45 3 51 1112.2COL1A2, COL1A1
11ribonucleic acid459.2COL1A2, COL1A1
12vitamin d459.1COL1A1, COL1A2
13oligonucleotide459.1COL1A2, COL1A1
14thymidine45 2410.0COL1A2, COL1A1
15aspartate458.8COL1A2, 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:0057889.1COL1A2, COL1A1
2collagen type IGO:0055849.0COL1A2, COL1A1
3extracellular matrixGO:0310128.8COL1A2, COL1A1

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
3collagen fibril organizationGO:0301999.4COL1A1, COL1A2
4blood vessel developmentGO:0015689.3COL1A1, COL1A2
5cellular response to amino acid stimulusGO:0712309.3COL1A2, COL1A1
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:0075969.1COL1A2, COL1A1
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:0428029.1COL1A2, COL1A1
2platelet-derived growth factor bindingGO:0484079.0COL1A2, COL1A1
3extracellular matrix structural constituentGO:0052018.8COL1A2, COL1A1

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

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  • Antibodies
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Sources for Col1a1/2-Related Osteogenesis Imperfecta

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet