OI
MCID: OST005
MIFTS: 70

Osteogenesis Imperfecta (OI) malady

Bone diseases category

Summaries for Osteogenesis Imperfecta

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8Disease Ontology, 42NIH Rare Diseases, 33MedlinePlus, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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MedlinePlus:33 Osteogenesis imperfecta (oi) is a genetic disorder in which bones break easily. sometimes the bones break for no known reason. oi can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. oi is caused by one of several genes that aren't working properly. when these genes don't work, it affects how you make collagen, a protein that helps make bones strong. oi can range from mild to severe, and symptoms vary from person to person. a person may have just a few or as many as several hundred fractures in a lifetime. no single test can identify oi. your doctor using your medical and family history, physical exam, and imaging and lab tests to diagnose it. your doctor may also test your collagen (from skin) or genes (from blood). there is no cure, but you can manage symptoms. treatments include exercise, pain medicine, physical therapy, wheelchairs, braces, and surgery. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards: Osteogenesis Imperfecta, also known as brittle bone disease, is related to osteogenesis imperfecta type i and osteogenesis imperfecta type iii. An important gene associated with Osteogenesis Imperfecta is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Platelet Adhesion to exposed collagen and Osteoblast Signaling. The drugs calcitonin and salmon calcitonin and the compounds procollagen and estrogen have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related mouse phenotypes are skeleton and growth/size.

Disease Ontology:8 An osteochondrodysplasia that has material basis in a deficiency in type-i collagen which results in brittle bones and defective connective tissue.

NIH Rare Diseases:42 Osteogenesis imperfecta (oi) is a group of genetic disorders that mainly affect the bones. people with this condition have bones that break easily, often from mild trauma or with no apparent cause. multiple fractures are common, and in severe cases, can occur even before birth. milder cases may involve only a few fractures over a person's lifetime. there are at least eight recognized forms of osteogenesis imperfecta, designated type i through type viii. the types can be distinguished by their signs and symptoms, as well as by genetic factors. depending on the genetic cause, oi may be inherited in an autosomal dominant (more commonly) or autosomal recessive pattern. last updated: 10/3/2011

Genetics Home Reference:21 Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.

Wikipedia:63 Osteogenesis imperfecta (OI and sometimes known as brittle bone disease, or \"Lobstein syndrome\") is a... more...

Description from OMIM:46 610854, 166200, 259420, 610968, 166220 610915, 610682, 166210, 259440, 166240 more

Aliases & Classifications for Osteogenesis Imperfecta

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8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 33MedlinePlus, 60UMLS, 34MeSH, 46OMIM, 56SNOMED-CT
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Classifications:

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


Aliases & Descriptions:

osteogenesis imperfecta 8 63 42 20 22 21 10 44 33 60
brittle bone disease 8 63 42 21
fragilitas ossium 63 42 21
vrolik disease 63 42 21
oi 63 42 21
osteopsathyrosis 8 63
osteogenesis imperfecta, recessive perinatal lethal 60
ekman-lobstein disease 63
lobstein's syndrome 8
vrolik's disease 8


Related Diseases for Osteogenesis Imperfecta

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17GeneCards, 18GeneDecks
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Diseases in the Osteogenesis Imperfecta Type Iii family:

osteogenesis imperfecta Osteogenesis Imperfecta Type I
Osteogenesis Imperfecta Type 9 Osteogenesis Imperfecta Type 1a
Osteogenesis Imperfecta Type 2a Osteogenesis Imperfecta Type 2b
Osteogenesis Imperfecta Type 4 Osteogenesis Imperfecta Type 5
Osteogenesis Imperfecta Type 6 Osteogenesis Imperfecta Type 7
Osteogenesis Imperfecta Type 8 Crtap-Related Osteogenesis Imperfecta
Lepre1-Related Osteogenesis Imperfecta Ppib-Related Osteogenesis Imperfecta
Fkbp10-Related Osteogenesis Imperfecta Serpinf1-Related Osteogenesis Imperfecta
Serpinh1-Related Osteogenesis Imperfecta Sp7-Related Osteogenesis Imperfecta
Ifitm5-Related Osteogenesis Imperfecta Bmp1-Related Osteogenesis Imperfecta
Osteogenesis Imperfecta Type Xi Osteogenesis Imperfecta Type X
Osteogenesis Imperfecta Type Xii Osteogenesis Imperfecta Type Xiii
Osteogenesis Imperfecta, Type Ii Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type Xv

Diseases related to Osteogenesis Imperfecta via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 159)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta type i31.8COL1A1, COL1A2
2osteogenesis imperfecta type iii31.4COL1A2, COL1A1
3dentinogenesis imperfecta31.2CD36, LEPRE1, COL1A1, IBSP, CRTAP, DSPP
4osteogenesis imperfecta type 630.9BP10, FKBP10
5osteogenesis imperfecta, type ii30.8COL1A1, COL1A2
6osteogenesis imperfecta type 430.8COL1A1, COL1A2
7ehlers-danlos syndrome30.8COL1A1, COL1A2, CD36, DSPP, COL2A1
8osteoporosis30.8SP7, CD36, IBSP, BGLAP, COL2A1, COL1A2
9col1a1/2-related osteogenesis imperfecta30.6COL1A1, COL1A2
10collagen disease30.6COL1A1, CD36, COL2A1
11osteonecrosis30.5BGLAP
12fibrous dysplasia30.3BGLAP, IBSP
13otosclerosis30.3COL1A1, CD36, COL1A2
14idiopathic juvenile osteoporosis30.3COL1A1, BGLAP
15osteochondrodysplasia30.1COL2A1
16connective tissue disease30.1COL2A1, COL1A1, DSPP, CD36, COL1A2
17rickets30.1CD36, BGLAP
18secondary syphilis30.1IBSP, BGLAP, CD36
19hyperparathyroidism30.1BGLAP
20dwarfism30.1COL2A1
21osteoarthritis30.1COL1A1, COL2A1, BGLAP, COL1A2, IBSP, DSPP
22bone fracture10.6
23osteogenesis imperfecta type 510.6
24osteogenesis imperfecta type 910.6
25osteogenesis imperfecta type 810.5
26osteogenesis imperfecta type xiii10.5
27osteogenesis imperfecta type 710.5
28osteogenesis imperfecta type 2a10.5
29osteogenesis imperfecta type xi10.5
30osteogenesis imperfecta type xii10.5
31osteogenesis imperfecta levin type10.4
32osteogenesis imperfecta type 1a10.4
33osteogenesis imperfecta type x10.4
34osteogenesis imperfecta, type xiv10.4
35osteogenesis imperfecta type 2b10.4
36osteogenesis imperfecta, type xv10.4
37congenital osteogenesis imperfecta - microcephaly - cataracts10.4
38high bone mass osteogenesis imperfecta10.4
39reflex sympathetic dystrophy10.3
40type i ehlers-danlos syndrome10.3
41cerebritis10.3
42spondylolysis10.3
43hypophosphatasia10.3
44breast cancer10.3
45dentinogenesis imperfecta 110.3
46osteoporosis-pseudoglioma syndrome10.3
47crtap-related osteogenesis imperfecta10.3
48ehlers-danlos/osteogenesis imperfecta syndrome10.3
49postural orthostatic tachycardia syndrome10.3
50spondylolisthesis10.2

Graphical network of the top 20 diseases related to Osteogenesis Imperfecta:



Diseases related to osteogenesis imperfecta

Clinical Features for Osteogenesis Imperfecta

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46OMIM
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Clinical features from OMIM:

610854,166200,259420,610968,166220,610915,610682,166210,259440,166240

Drugs & Therapeutics for Osteogenesis Imperfecta

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

Search CenterWatch for Osteogenesis Imperfecta

Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta

Search NIH Clinical Center for Osteogenesis Imperfecta

Search CenterWatch for Osteogenesis Imperfecta

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Osteogenesis Imperfecta

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20GeneTests, 22GTR
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Genetic tests related to Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta20 22

Anatomical Context for Osteogenesis Imperfecta

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32MalaCards
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MalaCards organs/tissues related to Osteogenesis Imperfecta:

32
Bone, Skin, Testes, Bone marrow, Breast, Heart, Colon, Uterus, Lung, Skeletal muscle, Endothelial

Animal Models for Osteogenesis Imperfecta or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Osteogenesis Imperfecta:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.7SERPINH1, COL2A1, COL1A2, IBSP, BMP1, CRTAP
2MP:00053789.7COL1A2, COL1A1, IBSP, BMP1, PPIB, CRTAP
3MP:00053719.5COL2A1, COL1A2, COL1A1, IBSP, FKBP10, LEPRE1

Publications for Osteogenesis Imperfecta

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50PubMed
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Articles related to Osteogenesis Imperfecta:

(show top 50)    (show all 839)
idTitleAuthorsYear
1
Musculoskeletal functional outcomes in children with osteogenesis imperfecta: associations with disease severity and pamidronate therapy. (23863411)
2014
2
Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V. (23977282)
2013
3
Osteogenesis imperfecta in adults: phenotypic characteristics and response to treatment in an Irish cohort. (23918528)
2013
4
Zebra lines in osteogenesis imperfecta on bisphosphonate therapy. (23440989)
2013
5
Fracture during Intravenous Bisphosphonate Treatment in a Child with Osteogenesis Imperfecta: An Argument for a More Frequent, Low-Dose Treatment Regimen. (24356182)
2013
6
In Utero Stem Cell Transplantation for Radical Treatment of Osteogenesis Imperfecta: Perspectives and Controversies. (24347264)
2013
7
Gender-dependence of bone structure and properties in adult osteogenesis imperfecta murine model. (23536112)
2013
8
Genotype-phenotype study in type V osteogenesis imperfecta. (23612438)
2013
9
Intrapartum fetal pain management in lethal osteogenesis imperfecta. (22753020)
2012
10
Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapy. (22511244)
2012
11
Osteogenesis Imperfecta with Celiac Disease and Type II Diabetes Mellitus Associated: Improvement with a Gluten-Free Diet. (22481956)
2012
12
Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists. (21739105)
2012
13
Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional ultrasound and computed tomography. (21450031)
2011
14
Osteogenesis imperfecta. (21666952)
2011
15
An unusual presentation of osteogenesis imperfecta type I. (23754901)
2011
16
Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta. (20855225)
2011
17
Nanoscale morphology of Type I collagen is altered in the Brtl mouse model of Osteogenesis Imperfecta. (20696252)
2011
18
GH in combination with bisphosphonate treatment in osteogenesis imperfecta. (20592128)
2010
19
A randomized, controlled dose-ranging study of risedronate in children with moderate and severe osteogenesis imperfecta. (19580461)
2010
20
Severe osteogenesis imperfecta in cyclophilin B-deficient mice. (19997487)
2009
21
Impairment of diastolic function in adult patients affected by osteogenesis imperfecta clinically asymptomatic for cardiac disease: casuality or causality? (18207586)
2009
22
Use of intrapulmonary percussive ventilation (IPV) in the management of pulmonary complications of an infant with osteogenesis imperfecta. (19824049)
2009
23
Effects of bisphosphonates in children with osteogenesis imperfecta: an AACPDM systematic review. (19087101)
2009
24
Bilateral subdural hematomas in an adult with osteogenesis imperfecta. (19560688)
2009
25
Femoral artery thrombosis after internal fixation of a transverse acetabular fracture in a patient with osteogenesis imperfecta type I. (18271949)
2008
26
Hyperplastic callus formation in osteogenesis imperfecta type V: follow-up of three generations over ten years. (18256825)
2008
27
Audiological findings in osteogenesis imperfecta. (19323351)
2008
28
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. (17277775)
2007
29
Pregnancy management in type III maternal osteogenesis imperfecta. (17896267)
2007
30
A new mutation in COL1A1 gene in a family with osteogenesis imperfecta. (16638323)
2006
31
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. (16705691)
2006
32
Odontoblast dysfunction in osteogenesis imperfecta: an LM, SEM, and ultrastructural study. (12489189)
2002
33
Structural models of osteogenesis imperfecta-associated variants in the COL1A1 gene. (12488462)
2002
34
Calcium kinetics in children with osteogenesis imperfecta type III and IV: pre- and post-growth hormone therapy. (10920211)
2000
35
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen. (9600458)
1998
36
Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability. (9268111)
1997
37
Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation. (9367795)
1997
38
Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis. (8804334)
1996
39
Osteogenesis imperfecta type II: microvascular changes in the CNS. (7671457)
1995
40
A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. (7860070)
1995
41
A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals. (8081394)
1994
42
Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta. (8456807)
1993
43
Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch. (1284475)
1992
44
The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele. (1551666)
1992
45
Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method. (2064612)
1991
46
A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain. (1988452)
1991
47
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent. (2339700)
1990
48
RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation. (2470760)
1989
49
Congenital pseudarthrosis of the tibia associated with cleidocranial dysostosis and osteogenesis imperfecta. A case report. (3594994)
1987
50
On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa. (3995789)
1985

Genetic Variations for Osteogenesis Imperfecta

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Expression for genes affiliated with Osteogenesis Imperfecta

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Osteogenesis Imperfecta

Search GEO for disease gene expression data for Osteogenesis Imperfecta.

Pathways for genes affiliated with Osteogenesis Imperfecta

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

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4COL1A1, COL1A2
210.3IBSP, COL1A1
310.3CD36, COL1A1, COL1A2
410.3CD36, COL1A1, COL1A2
510.3COL1A2, COL1A1, BMP1
610.3BMP1, COL1A1, COL1A2
7
Cell adhesion ECM remodeling
Hide members
10.3COL2A1, COL1A2, COL1A1
810.3COL2A1, COL1A2, COL1A1
910.3COL2A1, COL1A2, COL1A1
10
Hide members
10.3COL2A1, COL1A2, COL1A1
1110.2IBSP, COL1A1, COL1A2, COL2A1
12
Hide members
10.2IBSP, COL1A1, COL1A2, COL2A1
13
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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10.1COL2A1, COL1A2, COL1A1, BGLAP, IBSP
14
Hide members
10.0SERPINH1, COL2A1, COL1A2, COL1A1, BMP1, PPIB

Compounds for genes affiliated with Osteogenesis Imperfecta

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44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB, 28IUPHAR
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Compounds related to Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1procollagen4410.8COL2A1, COL1A2
2estrogen4410.7GLYAT
3Collagenase1110.7COL1A2, COL1A1, COL2A1
4ti6al4v4410.7BGLAP, CD36
5carbodiimide4410.7RNASE1, COL1A2, COL1A1
6ibandronate44 1111.7IBSP, BGLAP, CD36
7calcium carbonate4410.6CD36, DSPP, BGLAP
8tartrate4410.6BGLAP, CD36, DSPP
9nppa4410.6COL1A2, COL1A1
10polyglycolic acid4410.6BGLAP, DSPP, CD36
11chitosan4410.6CD36, IBSP, BGLAP
12chlorhexidine gluconate4410.6SERPINH1, DSPP
13alizarin4410.6CD36, IBSP, BGLAP, SP7
14acetone4410.6DSPP, CD36, RNASE1
15titanium4410.6BGLAP, CD36, IBSP
16zoledronic acid4410.6IBSP, BGLAP, CD36
17methylmethacrylate4410.6IBSP, DSPP
18deoxypyridinoline4410.6BGLAP, IBSP, CD36
19pyridinoline4410.6COL2A1, BGLAP, CD36, IBSP
20alendronate44 49 1112.6BGLAP, DSPP, CD36
2122-oxacalcitriol4410.6BGLAP, CD36
22hydroxyapatite4410.6BGLAP, DSPP, IBSP, CD36
23fluorescein44 1111.6DSPP, BGLAP, SERPINF1
24alginate4410.6CD36, BGLAP, COL2A1
25glycosaminoglycan4410.5SERPINF1, CD36, IBSP, COL2A1, COL1A1
26hydroxyproline44 11 2412.5CD36, IBSP, BGLAP, COL1A1, COL2A1
27etidronate4410.5CD36, BGLAP
28hydroxylysine4410.5COL1A1, COL2A1
29glutamate4410.5IBSP, RNASE1, BMP1
30teriparatide44 1111.5BGLAP, CD36
31serine4410.5RNASE1, COL2A1, SERPINF1, COL1A2, BGLAP, BMP1
32silver nitrate4410.4DSPP, CD36
33guanidine hydrochloride4410.4RNASE1, BGLAP, DSPP
34vitamin d4410.4COL2A1, COL1A2, COL1A1, BGLAP, DSPP, IBSP
35grgds4410.4IBSP, CD36
36heparin44 28 11 2413.4BGLAP, IBSP, BMP1, PPIB, CD36, RNASE1
37oligonucleotide4410.3COL1A2, IBSP, COL2A1, RNASE1, COL1A1, SERPINH1
38tannins4410.3CD36, DSPP
39h2o24410.3RNASE1, BGLAP, SERPINF1, GGT1, DSPP, CD36
40vegf4410.3COL1A1, BGLAP, SERPINF1, SP7, SERPINH1, RNASE1
41arginine4410.3RNASE1, DSPP, BMP1, GGT1, BGLAP, COL1A1
42aspartate4410.3RNASE1, COL1A2, GGT1, DSPP, BMP1, COL1A1
43dexamethasone44 49 28 1113.3COL2A1, DSPP, COL1A1, BGLAP, IBSP, SP7
44alanine4410.3BMP1, BGLAP, RNASE1, COL1A1, GGT1, COL2A1
451,25 dihydroxy vitamin d34410.3COL1A1, BGLAP, IBSP
46ascorbic acid44 2411.2COL2A1, SP7, DSPP, GGT1, SERPINH1, LEPRE1
47alpha tocopherol4410.1BGLAP, GGT1, CD36
48cysteine4410.1IBSP, COL2A1, COL1A1, BGLAP, BMP1, DSPP
49calcium44 49 11 2413.1COL2A1, RNASE1, COL1A2, DSPP, BMP1, IBSP
50vitamin k24410.0CD36, BGLAP

GO Terms for genes affiliated with Osteogenesis Imperfecta

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16Gene Ontology
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Cellular components related to Osteogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:00558410.3COL1A1, COL1A2
2proteinaceous extracellular matrixGO:00557810.2LEPRE1, DSPP, CRTAP, BMP1
3endoplasmic reticulum lumenGO:00578810.0SERPINH1, COL2A1, COL1A2, COL1A1, PPIB, CRTAP
4extracellular spaceGO:00561510.0COL2A1, COL1A2, COL1A1, BGLAP, BMP1, SERPINH1
5extracellular regionGO:0055769.6COL2A1, COL1A2, COL1A1, BGLAP, IBSP, BMP1

Biological processes related to Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1collagen biosynthetic processGO:03296410.5SERPINH1, COL1A1
2skin morphogenesisGO:04358910.5COL1A1, COL1A2
3osteoblast differentiationGO:00164910.5COL1A1, BGLAP, SP7
4cartilage development involved in endochondral bone morphogenesisGO:06035110.5COL2A1, COL1A1
5collagen fibril organizationGO:03019910.4COL2A1, COL1A2, COL1A1, LEPRE1, SERPINH1
6regulation of bone mineralizationGO:03050010.3IFITM5, BGLAP
7ossificationGO:00150310.3DSPP, BMP1, IBSP
8collagen catabolic processGO:03057410.3COL2A1, COL1A2, COL1A1
9skeletal system developmentGO:00150110.3DSPP, BMP1, BGLAP, COL1A1, COL1A2, COL2A1
10extracellular matrix disassemblyGO:02261710.2COL1A1, COL1A2, COL2A1
11extracellular matrix organizationGO:03019810.1SERPINH1, COL2A1, COL1A2, COL1A1, IBSP, BMP1
12protein heterotrimerizationGO:07020810.1COL1A1, COL1A2

Molecular functions related to Osteogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00520110.3DSPP, COL1A1, COL1A2
2platelet-derived growth factor bindingGO:04840710.0COL1A1, COL1A2, COL2A1

Products for genes affiliated with Osteogenesis Imperfecta

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  • Antibodies
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Sources for 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