MCID: OST025
MIFTS: 65

Osteogenesis Imperfecta Type Iii malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases categories
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Summaries for Osteogenesis Imperfecta Type Iii

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47OMIM, 33MalaCards
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MalaCards: Osteogenesis Imperfecta Type Iii, also known as osteogenesis imperfecta type 3, is related to osteogenesis imperfecta and osteogenesis imperfecta type 4. An important gene associated with Osteogenesis Imperfecta Type Iii is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Cell adhesion Endothelial cell contacts by non junctional mechanisms and Inflammatory Response Pathway. The drugs calcitonin and salmon calcitonin and the compounds nppa and nppb have been mentioned in the context of this disorder. Affiliated tissues include bone, colon and skin, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

Description from OMIM:47 259420, 259440, 610682, 610915, 613848 613982, 614856, 615220 more

Aliases & Classifications for Osteogenesis Imperfecta Type Iii

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62UMLS, 65Wikipedia, 43NIH Rare Diseases, 22GTR, 49Orphanet, 47OMIM, 45Novoseek, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
osteogenesis imperfecta type 3:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

osteogenesis imperfecta type iii 65 62
osteogenesis imperfecta type 3 43 22 49
oi type iii 43 47
oi type 3 43 49
osteogenesis imperfecta, progressively deforming with normal sclerae 43
progressively deforming osteogenesis imperfecta with normal sclerae 65
progressive deforming osteogenesis imperfecta 49
osteogenesis imperfecta, type iii 47
severe osteogenesis imperfecta 49
osteogenesis imperfecta 62
oi, type iii 45


External Ids:

MESH via Orphanet36 C536044
ICD10 via Orphanet26 Q78.0
SNOMED-CT via Orphanet59 385483009
UMLS via Orphanet63 C0268362

Related Diseases for Osteogenesis Imperfecta Type Iii

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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 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
Osteogenesis Imperfecta Type 9 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 Type Iii via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta31.1CD36, PPIB, BGLAP, LEPRE1, SERPINF1, SERPINH1
2osteogenesis imperfecta type 430.5COL1A1, COL1A2
3progressively deforming osteogenesis imperfecta10.5
4arachnoiditis10.3
5brachydactyly10.3
6arachnoid cysts10.3
7cerebellar hypoplasia10.3
8hypophosphatasia10.2
9osteogenesis imperfecta type 510.2
10osteogenesis imperfecta type 810.2
11osteogenesis imperfecta type xiii10.2
12osteogenesis imperfecta, type xiv10.2
13osteogenesis imperfecta, type xv10.2
14osteogenesis imperfecta, type ii10.1COL1A1
15caffey disease10.1COL1A1
16gyrate atrophy10.1RNASE1
17osteogenesis imperfecta type i10.1COL1A1, COL1A2
18col1a1/2-related osteogenesis imperfecta10.1COL1A1, COL1A2
19ehlers–danlos syndrome classical type10.1COL1A1, COL1A2
20idiopathic juvenile osteoporosis10.1BGLAP, COL1A1
21marfan syndrome10.1CD36, COL1A2
22collagen disease10.1COL1A1, CD36
23systemic scleroderma10.1COL1A2, COL1A1
24osteofibrous dysplasia10.1BGLAP, CD36
25hyperostosis10.1BGLAP, COL1A1
26renal osteodystrophy10.1CD36, BGLAP
27gingival overgrowth10.1COL1A1, CD36
28otosclerosis10.1COL1A1, COL1A2, CD36
29ehlers-danlos syndrome10.1COL1A1, COL1A2, CD36
30connective tissue disease10.1COL1A1, COL1A2, CD36
31fibromatosis, gingival10.1SERPINH1, CD36
32primary hyperparathyroidism10.1BGLAP, CD36
33osteoporosis, postmenopausal10.1CD36, COL1A1, BGLAP
34secondary hyperparathyroidism of renal origin10.1BGLAP, CD36
35short stature10.1CD36, COL1A2, BGLAP
36osteomalacia10.1CD36, BGLAP
37rickets10.0BGLAP, CD36
38hypertrophic scars10.0CD36, SERPINH1
39glomerulosclerosis10.0CD36, COL1A2, SERPINH1
40osteoporosis10.0BGLAP, COL1A1, COL1A2, CD36
41osteoarthritis10.0BGLAP, COL1A1, COL1A2, CD36
42myopia 610.0COL1A1, SERPINF1
43bone carcinoma10.0BGLAP, CD36
44keloids10.0CD36, SERPINH1
45pulmonary fibrosis10.0SERPINH1, COL1A1, COL1A2, CD36
46osteosarcoma10.0CD36, BMP1, SERPINF1, BGLAP
47dentinogenesis imperfecta9.9LEPRE1, COL1A1, COL1A2, CRTAP, CD36
48tongue squamous cell carcinoma9.9SERPINF1, SERPINH1, RNASE1, WNT1, BMP1

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



Diseases related to osteogenesis imperfecta type iii

Symptoms for Osteogenesis Imperfecta Type Iii

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47OMIM
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Symptoms by clinical synopsis from OMIM:

259420

Clinical features from OMIM:

259420,259440,610682,610915,613848,613982,614856,615220

Drugs & Therapeutics for Osteogenesis Imperfecta Type Iii

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

Search ClinicalTrials for Osteogenesis Imperfecta Type Iii

Search NIH Clinical Center for Osteogenesis Imperfecta Type Iii

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Osteogenesis Imperfecta Type Iii

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22GTR
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Genetic tests related to Osteogenesis Imperfecta Type Iii:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type Iii22

Anatomical Context for Osteogenesis Imperfecta Type Iii

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33MalaCards
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MalaCards organs/tissues related to Osteogenesis Imperfecta Type Iii:

33
Bone, Colon, Skin

Animal Models for Osteogenesis Imperfecta Type Iii or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Osteogenesis Imperfecta Type Iii:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.8COL1A2, COL1A1, SERPINH1, LEPRE1
2MP:00053818.5SERPINF1, SERPINH1, BMP1, COL1A1, CD36
3MP:00053698.4LEPRE1, WNT1, COL1A1, COL1A2, CD36
4MP:00053858.3SERPINF1, SERPINH1, BMP1, COL1A1, COL1A2, CD36
5MP:00107687.8SERPINH1, WNT1, BMP1, COL1A1, COL1A2, CD36
6MP:00053787.2PPIB, LEPRE1, SERPINH1, BMP1, COL1A1, COL1A2
7MP:00053906.9CD36, PPIB, LEPRE1, SERPINH1, WNT1, BMP1

Publications for Osteogenesis Imperfecta Type Iii

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52PubMed
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Articles related to Osteogenesis Imperfecta Type Iii:

(show all 29)
idTitleAuthorsYear
1
Increased nuchal translucency and short femur length as possible early signs of osteogenesis imperfecta type III. (23741540)
2013
2
Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III. (23072183)
2012
3
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. (19208385)
2009
4
New trends in the treatment of osteogenesis imperfecta type III - own experience. (19153548)
2008
5
Severe cerebellar hypoplasia associated with osteogenesis imperfecta type III. (17719950)
2007
6
Carcinoma of left colon presenting as mechanical obstruction in a patient with osteogenesis imperfecta type III. (17171434)
2007
7
Comparison of nanoindentation measurements between osteogenesis imperfecta Type III and Type IV and between different anatomic locations (femur/tibia versus iliac crest). (17453908)
2007
8
Further safety enhancement of a specialized power assisted tricycle for a child with osteogenesis imperfecta type III and design of an adjustble hand power tricycle. (16817593)
2006
9
Safety enhancement of a specialized power assisted tricycle for a child with osteogenesis imperfecta type III. (15850131)
2005
10
Treatment of poor linear growth in a patient with osteogenesis imperfecta type III. (15598484)
2004
11
Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen. (12870654)
2003
12
Calcium kinetics in children with osteogenesis imperfecta type III and IV: pre- and post-growth hormone therapy. (10920211)
2000
13
Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV. (10511119)
1999
14
Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV. (9240878)
1997
15
Histopathologic and electron-microscopic features of corneal and scleral collagen fibers in osteogenesis imperfecta type III. (9248835)
1997
16
Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen. (8728690)
1996
17
A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. (7860070)
1995
18
Type 1 collagen synthesis by skin fibroblasts from 17 patients with osteogenesis imperfecta type III. (8747514)
1995
19
A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. (7749416)
1995
20
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
21
Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III. (8019571)
1994
22
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. (8444468)
1993
23
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. (8100856)
1993
24
Collagen studies in an osteogenesis imperfecta type III family. (3214053)
1988
25
Prenatal diagnosis of osteogenesis imperfecta type III. (3547385)
1987
26
Osteogenesis imperfecta type III: an ancient mutation in Africa? (3425600)
1987
27
Abnormal procollagen synthesis in fibroblasts from three patients of the same family with a severe form of osteogenesis imperfecta (type III). (3768427)
1986
28
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. (3953678)
1986
29
On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa. (3995789)
1985

Variations for Osteogenesis Imperfecta Type Iii

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta Type Iii:

64 (show all 82)
id Symbol AA change Variation ID SNP ID
1COL1A1p.Gly332ArgVAR_001650
2COL1A1p.Gly332ArgVAR_001650
3COL1A1p.Gly350ArgVAR_001651
4COL1A1p.Gly350ArgVAR_001651
5COL1A1p.Gly530SerVAR_001666
6COL1A1p.Gly530SerVAR_001666
7COL1A1p.Gly593CysVAR_001673
8COL1A1p.Gly593CysVAR_001673
9COL1A1p.Gly593SerVAR_001674
10COL1A1p.Gly593SerVAR_001674
11COL1A1p.Gly704CysVAR_001678
12COL1A1p.Gly704CysVAR_001678
13COL1A1p.Gly719SerVAR_001680
14COL1A1p.Gly719SerVAR_001680
15COL1A1p.Gly767SerVAR_001686
16COL1A1p.Gly767SerVAR_001686
17COL1A1p.Gly821SerVAR_001690
18COL1A1p.Gly821SerVAR_001690
19COL1A1p.Gly884SerVAR_001697
20COL1A1p.Gly884SerVAR_001697
21COL1A1p.Gly1022SerVAR_001702
22COL1A1p.Gly1022SerVAR_001702
23COL1A1p.Gly1040SerVAR_001705
24COL1A1p.Gly1040SerVAR_001705
25COL1A1p.Gly1049SerVAR_001708
26COL1A1p.Gly1049SerVAR_001708
27COL1A1p.Gly1058SerVAR_001709
28COL1A1p.Gly1058SerVAR_001709
29COL1A1p.Gly1076SerVAR_001713
30COL1A1p.Gly1076SerVAR_001713
31COL1A1p.Gly1151SerVAR_001722
32COL1A1p.Gly1151SerVAR_001722
33COL1A1p.Gly1187SerVAR_001729
34COL1A1p.Gly1187SerVAR_001729
35COL1A1p.Leu1464ProVAR_001737
36COL1A1p.Leu1464ProVAR_001737
37COL1A1p.Gly866SerVAR_008118
38COL1A1p.Gly866SerVAR_008118
39COL1A1p.Gly203ValVAR_063295
40COL1A1p.Gly203ValVAR_063295
41COL1A2p.Gly337CysVAR_001857
42COL1A2p.Gly337CysVAR_001857
43COL1A2p.Gly337SerVAR_001858
44COL1A2p.Gly337SerVAR_001858
45COL1A2p.Gly349CysVAR_001860
46COL1A2p.Gly349CysVAR_001860
47COL1A2p.Gly460SerVAR_001863
48COL1A2p.Gly460SerVAR_001863
49COL1A2p.Gly517ArgVAR_001865
50COL1A2p.Gly517ArgVAR_001865
51COL1A2p.Gly676ValVAR_001875
52COL1A2p.Gly676ValVAR_001875
53COL1A2p.Gly778SerVAR_001884
54COL1A2p.Gly778SerVAR_001884
55COL1A2p.Gly892AspVAR_001892
56COL1A2p.Gly892AspVAR_001892
57COL1A2p.Gly949SerVAR_001894
58COL1A2p.Gly949SerVAR_001894
59COL1A2p.Gly1012SerVAR_001897
60COL1A2p.Gly1012SerVAR_001897
61COL1A2p.Gly1096AlaVAR_001901
62COL1A2p.Gly1096AlaVAR_001901
63COL1A2p.Thr1148ProVAR_001904rs1800250
64COL1A2p.Thr1148ProVAR_001904rs1800250
65COL1A2p.Gly331AspVAR_008119
66COL1A2p.Gly331AspVAR_008119
67COL1A2p.Gly973ValVAR_008120
68COL1A2p.Gly973ValVAR_008120
69COL1A2p.Gly358SerVAR_063352
70COL1A2p.Gly358SerVAR_063352
71COL1A2p.Gly676AspVAR_063361
72COL1A2p.Gly676AspVAR_063361
73COL1A2p.Gly820SerVAR_063370
74COL1A2p.Gly820SerVAR_063370
75COL1A2p.Gly835CysVAR_063371
76COL1A2p.Gly835CysVAR_063371
77COL1A2p.Gly856ArgVAR_063372
78COL1A2p.Gly856ArgVAR_063372
79COL1A2p.Gly991ValVAR_063377
80COL1A2p.Gly991ValVAR_063377
81COL1A2p.Gly1087AspVAR_063381
82COL1A2p.Gly1087AspVAR_063381

Clinvar genetic disease variations for Osteogenesis Imperfecta Type Iii:

1 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1COL1A2NM_000089.3(COL1A2): c.4001_4004delATAA (p.Asn1334Serfs)deletionPathogenicrs72659345GRCh37Chr 7, 94059605: 94059608
2COL1A2NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val)single nucleotide variantPathogenicrs121912907GRCh37Chr 7, 94044575: 94044575
3COL1A2COL1A2, VAL255DELdeletionPathogenic
4COL1A2NM_000089.3(COL1A2): c.2575G> A (p.Gly859Ser)single nucleotide variantPathogenicrs72658200GRCh37Chr 7, 94053657: 94053657
5COL1A2NM_000089.3(COL1A2): c.3017G> C (p.Gly1006Ala)single nucleotide variantPathogenicrs121912911GRCh37Chr 7, 94055754: 94055754
6COL1A2NM_000089.3(COL1A2): c.2251G> A (p.Gly751Ser)single nucleotide variantPathogenicrs72658176GRCh37Chr 7, 94049916: 94049916
7COL1A2NM_000089.3(COL1A2): c.1099G> T (p.Gly367Trp)single nucleotide variantPathogenicrs72656402GRCh37Chr 7, 94039741: 94039741
8COL1A2NM_000089.3(COL1A2): c.3269G> A (p.Gly1090Asp)single nucleotide variantPathogenicrs267606742GRCh37Chr 7, 94056940: 94056940
9COL1A2NM_000089.3(COL1A2): c.3295G> A (p.Gly1099Arg)single nucleotide variantPathogenicrs72659338GRCh37Chr 7, 94056966: 94056966
10COL1A1NM_000088.3(COL1A1): c.2110G> T (p.Gly704Cys)single nucleotide variantPathogenicrs67368147GRCh37Chr 17, 48269166: 48269166
11COL1A1NM_000088.3(COL1A1): c.3064G> A (p.Gly1022Ser)single nucleotide variantPathogenicrs66523073GRCh37Chr 17, 48266138: 48266138
12COL1A1COL1A1, EX22DELdeletionPathogenic
13COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
14COL1A1NM_000088.3(COL1A1): c.1588G> A (p.Gly530Ser)single nucleotide variantPathogenicrs67682641GRCh37Chr 17, 48271736: 48271736
15COL1A1NM_000088.3(COL1A1): c.3118G> A (p.Gly1040Ser)single nucleotide variantPathogenicrs72653178GRCh37Chr 17, 48265980: 48265980
16COL1A1NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser)single nucleotide variantPathogenicrs72653131GRCh37Chr 17, 48267406: 48267406
17COL1A1NM_000088.3(COL1A1): c.4391T> C (p.Leu1464Pro)single nucleotide variantPathogenicrs72656353GRCh37Chr 17, 48262867: 48262867
18COL1A1COL1A1, 562-BP DELdeletionPathogenic
19COL1A1NM_000088.3(COL1A1): c.761G> A (p.Gly254Glu)single nucleotide variantPathogenicrs72645320GRCh37Chr 17, 48274414: 48274414

Expression for genes affiliated with Osteogenesis Imperfecta Type Iii

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Osteogenesis Imperfecta Type Iii

Search GEO for disease gene expression data for Osteogenesis Imperfecta Type Iii.

Pathways for genes affiliated with Osteogenesis Imperfecta Type Iii

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Sources:
50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database, 55Reactome, 30KEGG, 51PharmGKB, 53QIAGEN
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Pathways related to Osteogenesis Imperfecta Type Iii according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0COL1A2, COL1A1
210.0COL1A1, COL1A2
3
Show member pathways
10.0COL1A1, COL1A2
4
Show member pathways
Cytoskeleton remodeling FAK signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
9.7CREB3L1, COL1A2, COL1A1
59.4COL1A2, BGLAP
69.3COL1A1, COL1A2, CD36
7
Show member pathways
9.3CD36, COL1A2, COL1A1
8
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
9.3CD36, COL1A2, COL1A1
99.1COL1A2, COL1A1, BGLAP
10
Show member pathways
8.0CRTAP, PPIB, LEPRE1, SERPINH1, BMP1, COL1A1
11
Show member pathways
8.0PPIB, LEPRE1, SERPINH1, BMP1, COL1A1, COL1A2

Compounds for genes affiliated with Osteogenesis Imperfecta Type Iii

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Sources:
45Novoseek, 29IUPHAR, 61Tocris Bioscience, 24HMDB, 11DrugBank, 51PharmGKB
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Compounds related to Osteogenesis Imperfecta Type Iii according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1nppa4510.4COL1A2, COL1A1
2nppb29 45 6112.3COL1A2, COL1A1
3xbai4510.3COL1A2, COL1A1
4ecori4510.2COL1A1, COL1A2
5rsai4510.2COL1A1, COL1A2
6cyanogen bromide459.9CD36, COL1A2
7carbodiimide459.9RNASE1, COL1A1, COL1A2
8L-Proline24 1110.8PPIB, LEPRE1
9mspi459.7COL1A2, COL1A1
10acetone459.6RNASE1, CD36
11glycosaminoglycan459.6SERPINF1, COL1A1, CD36
12ribonucleic acid459.5COL1A2, COL1A1, RNASE1
13simvastatin45 51 61 29 24 1114.5BGLAP, COL1A1, COL1A2
14ti6al4v459.5CD36, BGLAP
1522-oxacalcitriol459.4CD36, BGLAP
16teriparatide45 1110.4BGLAP, CD36
17etidronate459.4BGLAP, CD36
18ibandronate45 1110.4CD36, BGLAP
19alizarin459.4CD36, BGLAP
20calcium carbonate459.4CD36, BGLAP
21vitamin k2459.4CD36, BGLAP
22tartrate459.4CD36, BGLAP
23polyglycolic acid459.4CD36, BGLAP
24pamidronate45 51 1111.4CD36, BGLAP
25risedronate45 51 29 61 1113.4BGLAP, CD36
26clodronate45 51 1111.4CD36, BGLAP
27chitosan459.4CD36, BGLAP
28pyridinoline459.3BGLAP, CD36
29titanium459.3CD36, BGLAP
30fluorescein45 1110.2SERPINF1, BGLAP
31deoxypyridinoline459.2BGLAP, CD36
32hydroxyproline45 24 1111.2CD36, COL1A1, BGLAP
33zoledronic acid459.2BGLAP, CD36
34oligonucleotide459.1SERPINH1, RNASE1, WNT1, COL1A1, COL1A2
35alendronate45 51 1111.1BGLAP, CD36
36budesonide45 51 1111.0CD36, BGLAP
37vitamin d458.9CD36, COL1A2, COL1A1, BGLAP
38aspartate458.7BGLAP, RNASE1, BMP1, COL1A1, COL1A2
39ascorbic acid45 249.6BGLAP, LEPRE1, SERPINH1, CD36
40estrogen458.6BGLAP, WNT1, COL1A1, COL1A2, CD36
41dexamethasone45 51 29 1111.6BGLAP, SERPINF1, COL1A1, CD36
42arginine458.4BGLAP, RNASE1, BMP1, COL1A1
43h2o2458.4BGLAP, SERPINF1, RNASE1, CD36
44retinoic acid45 249.4BGLAP, SERPINF1, WNT1, COL1A1, CD36
45procollagen458.3CD36, COL1A2, COL1A1, BMP1, SERPINH1, BGLAP
46vegf457.9BGLAP, SERPINF1, SERPINH1, RNASE1, COL1A1, CD36
47heparin45 29 24 1110.7PPIB, BGLAP, SERPINF1, RNASE1, BMP1, CD36
48cysteine457.7BGLAP, SERPINF1, RNASE1, BMP1, COL1A1, COL1A2
49calcium45 51 24 1110.7BGLAP, SERPINF1, RNASE1, BMP1, COL1A1, COL1A2
50serine457.3BGLAP, SERPINF1, SERPINH1, RNASE1, BMP1, COL1A1

GO Terms for genes affiliated with Osteogenesis Imperfecta Type Iii

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

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:00558410.0COL1A2, COL1A1
2macromolecular complexGO:0329919.4PPIB, LEPRE1, CRTAP
3extracellular matrixGO:0310129.2COL1A2, COL1A1, SERPINF1
4membrane-bounded vesicleGO:0319889.2BGLAP, BMP1
5proteinaceous extracellular matrixGO:0055789.1LEPRE1, WNT1, BMP1, CRTAP
6endoplasmic reticulumGO:0057838.8CRTAP, SERPINH1, LEPRE1, PPIB
7endoplasmic reticulum lumenGO:0057888.2CRTAP, COL1A2, COL1A1, WNT1, SERPINH1, LEPRE1
8extracellular regionGO:0055767.6BGLAP, SERPINF1, RNASE1, WNT1, BMP1, COL1A1
9extracellular spaceGO:0056157.5BGLAP, SERPINF1, SERPINH1, WNT1, BMP1, COL1A1

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:04358910.2COL1A2, COL1A1
2protein heterotrimerizationGO:07020810.2COL1A1, COL1A2
3collagen biosynthetic processGO:03296410.1COL1A1, SERPINH1
4negative regulation of cell-substrate adhesionGO:01081210.0COL1A1, WNT1
5negative regulation of post-translational protein modificationGO:190187410.0CRTAP, LEPRE1
6blood vessel developmentGO:0015689.9COL1A1, COL1A2
7extracellular matrix disassemblyGO:0226179.9COL1A2, COL1A1, BMP1
8response to unfolded proteinGO:0069869.8CREB3L1, SERPINH1
9regulation of proteolysisGO:0301629.7SERPINH1, SERPINF1
10cellular response to amino acid stimulusGO:0712309.7COL1A2, COL1A1
11regulation of bone mineralizationGO:0305009.5CREB3L1, BGLAP
12chaperone-mediated protein foldingGO:0610779.5CRTAP, LEPRE1, PPIB
13odontogenesisGO:0424769.5COL1A2, BGLAP
14protein stabilizationGO:0508219.5PPIB, LEPRE1, CRTAP
15platelet activationGO:0301689.4COL1A1, COL1A2, CD36
16collagen fibril organizationGO:0301999.4LEPRE1, SERPINH1, COL1A1, COL1A2
17skeletal system developmentGO:0015019.1BGLAP, BMP1, COL1A1, COL1A2
18bone developmentGO:0603488.7WNT1, LEPRE1, BGLAP, PPIB
19extracellular matrix organizationGO:0301988.3CRTAP, PPIB, LEPRE1, SERPINH1, BMP1, COL1A1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00520110.0COL1A2, COL1A1
2platelet-derived growth factor bindingGO:0484079.9COL1A2, COL1A1
3collagen bindingGO:0055189.1SERPINH1, LEPRE1, PPIB
4protein complex bindingGO:0324038.9PPIB, LEPRE1, CRTAP

Products for genes affiliated with Osteogenesis Imperfecta Type Iii

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Sources for Osteogenesis Imperfecta Type Iii

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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