MCID: CL1004
MIFTS: 30

Col1a1/2-Related Osteogenesis Imperfecta malady

Genetic diseases (common), Bone diseases categories

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 19 20
Osteogenesis Imperfecta 61
 
Brittle Bone Disease 19
Oi 19


Classifications:



Summaries for Col1a1/2-Related Osteogenesis Imperfecta

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MalaCards based summary: Col1a1/2-Related Osteogenesis Imperfecta, also known as osteogenesis imperfecta, is related to osteogenesis imperfecta, type iv 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 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

Related Diseases for Col1a1/2-Related Osteogenesis Imperfecta

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

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type iv30.8COL1A2, COL1A1
2osteogenesis imperfecta, type iii30.5COL1A1, COL1A2
3osteogenesis imperfecta, type i30.5COL1A2, COL1A1
4osteogenesis imperfecta30.5COL1A2, COL1A1
5osteogenesis imperfecta, type ii30.4COL1A1, COL1A2
6dentinogenesis imperfecta29.9COL1A2, COL1A1
7osteoporosis29.6COL1A1, COL1A2
8osteogenesis imperfecta, type v10.6
9osteogenesis imperfecta, type viii10.5
10osteogenesis imperfecta, type xiii10.4
11osteogenesis imperfecta, type xiv10.4
12osteogenesis imperfecta, type xv10.4
13postural orthostatic tachycardia syndrome10.4
14osteogenesis imperfecta, type vii10.3
15osteogenesis imperfecta, type xi10.2
16chronic orthostatic intolerance10.2
17osteogenesis imperfecta, type x10.1
18osteogenesis imperfecta, type xii10.1
19osteogenesis imperfecta, type ix10.1
20orthostatic intolerance10.1
21dentinogenesis imperfecta, shields type ii10.1
22osteogenesis imperfecta type 2a10.1
23osteogenesis imperfecta, type vi10.1
24cole carpenter syndrome10.1
25osteogenesis imperfecta type 2b10.1
26ehlers-danlos syndrome, type i10.0COL1A2, COL1A1
27otosclerosis10.0COL1A1, COL1A2
28tooth agenesis10.0
29osteogenesis imperfecta type 1a10.0
30perinatally lethal osteogenesis imperfecta10.0
31ehlers-danlos/osteogenesis imperfecta syndrome10.0
32high bone mass osteogenesis imperfecta10.0
33ehlers-danlos syndrome9.9COL1A1, COL1A2
34connective tissue disease9.9COL1A1, COL1A2
35pulmonary fibrosis9.9COL1A2, COL1A1
36osteoarthritis9.9COL1A2, COL1A1
37systemic scleroderma9.8COL1A2, COL1A1

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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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 UMLS61/NDF-RT40:

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 Imperfecta20 COL1A1, COL1A2

Anatomical Context for Col1a1/2-Related Osteogenesis Imperfecta

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

31
Bone

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

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

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1COL1A2, COL1A1

Publications for Col1a1/2-Related Osteogenesis Imperfecta

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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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Clinvar genetic disease variations for Col1a1/2-Related Osteogenesis Imperfecta:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A1NM_000088.3(COL1A1): c.3583G> T (p.Gly1195Cys)single nucleotide variantPathogenicrs72656334GRCh37Chr 17, 48264232: 48264232
2COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
3COL1A1NM_000088.3(COL1A1): c.787G> A (p.Gly263Arg)single nucleotide variantPathogenicrs72645323GRCh37Chr 17, 48274388: 48274388
4COL1A1NM_000088.3(COL1A1): c.1200+1G> Asingle nucleotide variantPathogenicrs72648320GRCh37Chr 17, 48272794: 48272794
5COL1A1NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter)single nucleotide variantPathogenicrs72653173GRCh37Chr 17, 48266126: 48266126
6COL1A2NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser)single nucleotide variantPathogenicrs72656387GRCh37Chr 7, 94038679: 94038679

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 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling FAK signaling59
Development Endothelin 1 EDNRA transactivation of EGFR59
9.1COL1A2, COL1A1
2
Show member pathways
Development EDNRB signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
9.1COL1A1, COL1A2
3
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility59
Cytoskeleton remodeling Integrin outside in signaling59
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases59
Cell adhesion Tight junctions59
Development MAG dependent inhibition of neurite outgrowth59
9.1COL1A2, COL1A1
4
Show member pathways
9.1COL1A1, COL1A2
5
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
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
Metalloproteases in connective tissue degradation
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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Compounds related to Col1a1/2-Related Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

(show all 15)
idCompoundScoreTop Affiliating Genes
1nppa449.4COL1A2, COL1A1
2carbodiimide449.4COL1A2, COL1A1
3nppb28 44 6011.4COL1A2, COL1A1
4xbai449.4COL1A1, COL1A2
5ecori449.4COL1A2, COL1A1
6rsai449.4COL1A2, COL1A1
7mspi449.3COL1A2, COL1A1
8procollagen449.3COL1A1, COL1A2
9simvastatin44 50 60 28 24 1114.3COL1A2, COL1A1
10chloramphenicol44 1 50 1112.2COL1A2, COL1A1
11ribonucleic acid449.2COL1A2, COL1A1
12vitamin d449.1COL1A1, COL1A2
13oligonucleotide449.1COL1A2, COL1A1
14thymidine44 2410.0COL1A2, COL1A1
15aspartate448.8COL1A2, COL1A1

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
1endoplasmic reticulum lumenGO:00057889.1COL1A2, COL1A1
2collagen type IGO:00055849.0COL1A2, COL1A1
3extracellular matrixGO:00310128.8COL1A2, COL1A1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:00435899.4COL1A2, COL1A1
2protein heterotrimerizationGO:00702089.4COL1A2, COL1A1
3collagen fibril organizationGO:00301999.4COL1A1, COL1A2
4blood vessel developmentGO:00015689.3COL1A1, COL1A2
5cellular response to amino acid stimulusGO:00712309.3COL1A2, COL1A1
6collagen catabolic processGO:00305749.3COL1A2, COL1A1
7extracellular matrix disassemblyGO:00226179.2COL1A1, COL1A2
8leukocyte migrationGO:00509009.2COL1A2, COL1A1
9skeletal system developmentGO:00015019.1COL1A2, COL1A1
10blood coagulationGO:00075969.1COL1A2, COL1A1
11platelet activationGO:00301689.0COL1A1, COL1A2
12extracellular matrix organizationGO:00301988.8COL1A2, COL1A1

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428029.1COL1A2, COL1A1
2platelet-derived growth factor bindingGO:00484079.0COL1A2, COL1A1
3extracellular matrix structural constituentGO:00052018.8COL1A2, COL1A1

Sources for Col1a1/2-Related Osteogenesis Imperfecta

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet