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OI1
MCID: OST135
MIFTS: 46

Osteogenesis Imperfecta, Type I (OI1) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Osteogenesis Imperfecta, Type I

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Aliases & Descriptions for Osteogenesis Imperfecta, Type I:

Name: Osteogenesis Imperfecta, Type I 54 13
Osteogenesis Imperfecta Type 1 12 56 14
Osteogenesis Imperfecta Type I 12 50 66
Osteogenesis Imperfecta with Blue Sclerae 50 66
Non-Deforming Osteogenesis Imperfecta 50 56
Osteogenesis Imperfecta Tarda 50 66
Mild Osteogenesis Imperfecta 50 56
Osteogenesis Imperfecta 1 66 29
Adair-Dighton Syndrome 50 56
Van Der Hoeve Syndrome 50 56
Oi, Type I 66 52
Oi Type 1 50 56
Oi1 12 66
Classic Non-Deforming Oi with Blue Sclerae 50
Osteopenic Non-Fracture Syndrome 66
Lobstein's Disease 69
Oi-I 66

Characteristics:

Orphanet epidemiological data:

56
osteogenesis imperfecta type 1
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Sweden); Age of onset: Childhood;

HPO:

32
osteogenesis imperfecta, type i:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 56  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 54 166200
Disease Ontology 12 DOID:0110334
ICD10 33 Q78.0
Orphanet 56 ORPHA216796
ICD10 via Orphanet 34 Q78.0
MeSH 42 D010013
Sources

Summaries for Osteogenesis Imperfecta, Type I

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NIH Rare Diseases : 50 osteogenesis imperfecta (oi) is a group of genetic disorders that mainly affect the bones. osteogenesis imperfecta type 1 is the mildest form of oi and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. fractures occur less frequently in adulthood. people with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. affected individuals are usually of normal or near normal height. most of the mutations that cause osteogenesis imperfecta type 1 occur in the col1a1 gene. these genetic changes reduce the amount of type i collagen produced in the body, which causes bones to be brittle and to fracture easily. oi type 1 exhibits an autosomal dominant pattern of inheritance. last updated: 12/2/2015

MalaCards based summary : Osteogenesis Imperfecta, Type I, also known as osteogenesis imperfecta type 1, is related to classic non-deforming osteogenesis imperfecta with blue sclerae and osteogenesis imperfecta, type v, and has symptoms including osteopenia, hearing impairment and dentinogenesis imperfecta. An important gene associated with Osteogenesis Imperfecta, Type I is COL1A1 (Collagen Type I Alpha 1 Chain). The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and skin.

Disease Ontology : 12 An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

OMIM : 54 Osteogenesis imperfecta type I is a dominantly inherited, generalized connective tissue disorder characterized mainly... (166200) more...

UniProtKB/Swiss-Prot : 66 Osteogenesis imperfecta 1: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta.

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Related Diseases for Osteogenesis Imperfecta, Type I

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Diseases in the Osteogenesis Imperfecta family:

Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type Vii
Osteogenesis Imperfecta, Type Xvii Osteogenesis Imperfecta, Type Iv
Osteogenesis Imperfecta, Type Iii Osteogenesis Imperfecta, Type Ii
Osteogenesis Imperfecta, Type Xiii Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type V Osteogenesis Imperfecta, Type Xvi
Osteogenesis Imperfecta, Type X Osteogenesis Imperfecta, Type Xv
Osteogenesis Imperfecta, Type Xii Osteogenesis Imperfecta, Type Ix
Osteogenesis Imperfecta, Type Vi Osteogenesis Imperfecta, Type Xi
Osteogenesis Imperfecta, Type I Bmp1-Related Osteogenesis Imperfecta
Crtap-Related Osteogenesis Imperfecta Fkbp10-Related Osteogenesis Imperfecta
Ifitm5-Related Osteogenesis Imperfecta P3h1-Related Osteogenesis Imperfecta
Ppib-Related Osteogenesis Imperfecta Serpinf1-Related Osteogenesis Imperfecta
Serpinh1-Related Osteogenesis Imperfecta Sp7-Related Osteogenesis Imperfecta
Tmem38b-Related Osteogenesis Imperfecta Sparc-Related Osteogenesis Imperfecta
Wnt1-Related Osteogenesis Imperfecta

Diseases related to Osteogenesis Imperfecta, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
id Related Disease Score Top Affiliating Genes
1 classic non-deforming osteogenesis imperfecta with blue sclerae 11.0
2 osteogenesis imperfecta, type v 10.9
3 osteogenesis imperfecta, type xv 10.9
4 osteogenesis imperfecta, type viii 10.9
5 osteogenesis imperfecta, type iv 10.9
6 osteogenesis imperfecta, type xiii 10.9
7 osteogenesis imperfecta, type xiv 10.9
8 osteogenesis imperfecta 10.7
9 otosclerosis 10.1
10 thrombosis 9.8
11 vaginitis 9.8
12 kidney disease 9.8
13 autosomal dominant polycystic kidney disease 9.8
14 polycystic kidney disease 9.8

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



Diseases related to Osteogenesis Imperfecta, Type I
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Symptoms & Phenotypes for Osteogenesis Imperfecta, Type I

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Symptoms by clinical synopsis from OMIM:

166200

Clinical features from OMIM:

166200

Human phenotypes related to Osteogenesis Imperfecta, Type I:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 hearing impairment 32 HP:0000365
3 dentinogenesis imperfecta 32 HP:0000703
4 thin skin 32 HP:0000963
5 wormian bones 32 HP:0002645
6 aortic dilatation 32 HP:0001724
7 joint hypermobility 32 HP:0001382
8 mitral valve prolapse 32 HP:0001634
9 recurrent fractures 32 HP:0002757
10 bruising susceptibility 32 HP:0000978
11 blue sclerae 32 HP:0000592
12 femoral bowing 32 HP:0002980
13 increased susceptibility to fractures 32 HP:0002659
14 growth abnormality 32 HP:0001507
15 otosclerosis 32 HP:0000362
16 biconcave flattened vertebrae 32 HP:0003321
Sources

Drugs & Therapeutics for Osteogenesis Imperfecta, Type I

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Drugs for Osteogenesis Imperfecta, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 3
2 Hormones Phase 3
3 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
4
Cyclosporine Approved, Investigational, Vet_approved Phase 1 79217-60-0, 59865-13-3 5284373 6435893
5
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
6
Busulfan Approved, Investigational Phase 1 55-98-1 2478
7
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
8 Alkylating Agents Phase 1
9 Dermatologic Agents Phase 1
10 Anti-Infective Agents Phase 1
11 Immunosuppressive Agents Phase 1
12 Antifungal Agents Phase 1
13 Antirheumatic Agents Phase 1
14 Antineoplastic Agents, Alkylating Phase 1
15 Calcineurin Inhibitors Phase 1
16 Immunoglobulins Phase 1
17 Antibodies, Monoclonal Phase 1
18 Antibodies Phase 1
19
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


id Name Status NCT ID Phase
1 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3
2 A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804 Recruiting NCT03118570 Phase 2
3 Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow Transplantation Completed NCT00705120 Phase 1
4 Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta Not yet recruiting NCT03064074 Phase 1
5 Whole Body Vibration Training in Children With Osteogenesis Imperfecta and Limited Mobility Completed NCT03029312
6 BBD Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625
7 Urinary Biomarkers of OI Pathobiology Recruiting NCT02531087

Search NIH Clinical Center for Osteogenesis Imperfecta, Type I

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Genetic Tests for Osteogenesis Imperfecta, Type I

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Genetic tests related to Osteogenesis Imperfecta, Type I:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type I 29
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Anatomical Context for Osteogenesis Imperfecta, Type I

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MalaCards organs/tissues related to Osteogenesis Imperfecta, Type I:

39
Bone, Eye, Skin, Testes, Kidney
Sources

Publications for Osteogenesis Imperfecta, Type I

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Articles related to Osteogenesis Imperfecta, Type I:

(show top 50) (show all 58)
id Title Authors Year
1
Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI). ( 28058531 )
2017
2
Isolated olecranon fractures in children affected by osteogenesis imperfecta type I treated with single screw or tension band wiring system: Outcomes and pitfalls in relation to bone mineral density. ( 28514292 )
2017
3
Static postural control in youth with osteogenesis imperfecta type I. ( 28433416 )
2017
4
Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease. ( 27059743 )
2016
5
Ultrasonographic early diagnosis of osteogenesis imperfecta type I: implications for pre and post-natal therapy. ( 27052443 )
2016
6
Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate. ( 26957348 )
2016
7
Ultrasound findings of a fetus with osteogenesis imperfecta type I. ( 27040421 )
2016
8
Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions. ( 26478226 )
2015
9
Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family. ( 25696019 )
2015
10
Validity of an accelerometer as a vertical ground reaction force measuring device in healthy children and adolescents and in children and adolescents with osteogenesis imperfecta type I. ( 24879019 )
2014
11
Osteogenesis imperfecta type I: A case report. ( 24926339 )
2014
12
A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1. ( 24682174 )
2014
13
Muscle Anatomy and Dynamic Muscle Function in Osteogenesis Imperfecta Type I. ( 24248189 )
2013
14
Eleven years of experience with bisphosphonate plus alfacalcidol treatment in a man with osteogenesis imperfecta type I. ( 23293527 )
2013
15
Teriparatide treatment in adult patients with osteogenesis imperfecta type I. ( 23907723 )
2013
16
Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations. ( 24296239 )
2013
17
Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists. ( 21739105 )
2012
18
Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father. ( 22795108 )
2012
19
Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception. ( 22795118 )
2012
20
Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with osteogenesis imperfecta type I assessed by high-resolution pQCT. ( 22407910 )
2012
21
Ebstein's anomaly in a child with osteogenesis imperfecta type I. ( 22461818 )
2011
22
An unusual presentation of osteogenesis imperfecta type I. ( 23754901 )
2011
23
[Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I]. ( 19199251 )
2009
24
25-gauge sutureless vitrectomy in osteogenesis imperfecta type I. ( 25389586 )
2009
25
Femoral artery thrombosis after internal fixation of a transverse acetabular fracture in a patient with osteogenesis imperfecta type I. ( 18271949 )
2008
26
[Molecular diagnosis of osteogenesis imperfecta type I]. ( 19145934 )
2008
27
A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family. ( 18755172 )
2008
28
Stimulation of collagen biosynthesis by flavonoid glycosides in skin fibroblasts of osteogenesis imperfecta type I and the potential mechanism of their action. ( 17982699 )
2007
29
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. ( 16786509 )
2006
30
Single-dose pharmacokinetics and tolerability of alendronate 35- and 70-milligram tablets in children and adolescents with osteogenesis imperfecta type I. ( 15827104 )
2005
31
Effect of treatment with alendronate in osteogenesis imperfecta type I: a case report. ( 15647630 )
2004
32
Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I. ( 15580207 )
2004
33
Gene symbol: COL1A1. Disease: Osteogenesis imperfecta type I. ( 15046069 )
2004
34
Hypercalciuria in osteogenesis imperfecta type I. ( 14520592 )
2003
35
Effects of treatment with etidronate and alfacalcidol for osteogenesis imperfecta type I: a case report. ( 12665966 )
2003
36
Increased bone resorption with decreased activity and increased recruitment of osteoblasts in osteogenesis imperfecta type I. ( 11984701 )
2002
37
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. ( 11317364 )
2001
38
MRI-visible pericochlear lesions in osteogenesis imperfecta type I. ( 11044947 )
2000
39
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. ( 11113887 )
2000
40
Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV. ( 10942108 )
2000
41
Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains. ( 10686420 )
2000
42
Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing. ( 10521849 )
1999
43
Bone density measurements by computed tomography in osteogenesis imperfecta type I. ( 10550462 )
1999
44
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. ( 9443882 )
1998
45
A four base pair insertion polymorphism in the 3' untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I. ( 9503369 )
1998
46
Hearing loss (in nonoperated ears) in relation to age in osteogenesis imperfecta type I. ( 9228859 )
1997
47
Scanning electron microscopy of teeth in osteogenesis imperfecta type I. ( 8734703 )
1996
48
Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. ( 8808594 )
1996
49
Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I. ( 8544188 )
1995
50
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. ( 7942841 )
1994
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Variations for Osteogenesis Imperfecta, Type I

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UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type I:

66 (show all 26)
id Symbol AA change Variation ID SNP ID
1 COL1A1 p.Gly221Cys VAR_001644
2 COL1A1 p.Gly224Cys VAR_001645
3 COL1A1 p.Gly263Arg VAR_001646
4 COL1A1 p.Gly263Val VAR_001647
5 COL1A1 p.Gly272Cys VAR_001648
6 COL1A1 p.Gly1079Ser VAR_001714
7 COL1A1 p.Gly1195Cys VAR_001731
8 COL1A1 p.Gly194Arg VAR_063292
9 COL1A1 p.Gly200Val VAR_063294
10 COL1A1 p.Gly266Glu VAR_063298
11 COL1A1 p.Gly287Ser VAR_063299
12 COL1A1 p.Gly320Val VAR_063302
13 COL1A1 p.Val349Phe VAR_063304
14 COL1A1 p.Pro555Arg VAR_063313
15 COL1A1 p.Gly647Ser VAR_063319
16 COL1A1 p.Gly722Ser VAR_063321
17 COL1A1 p.Gly1157Asp VAR_063338
18 COL1A1 p.Asp1219Glu VAR_063339
19 COL1A2 p.Gly211Asp VAR_001852 rs72656378
20 COL1A2 p.Gly328Ser VAR_001855 rs66612022
21 COL1A2 p.Gly736Cys VAR_001879 rs72658173
22 COL1A2 p.Gly835Ser VAR_001890 rs72658193
23 COL1A2 p.Gly247Arg VAR_063346
24 COL1A2 p.Gly319Arg VAR_063350 rs72656393
25 COL1A2 p.Gly733Cys VAR_063363 rs72658172
26 COL1A2 p.Cys1195Tyr VAR_063383 rs72659342

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type I:

6 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1 COL1A2 COL1A2, EX11DEL deletion Pathogenic
2 COL1A1 NM_000088.3(COL1A1): c.814G> T (p.Gly272Cys) single nucleotide variant Pathogenic rs72645331 GRCh37 Chromosome 17, 48274022: 48274022
3 COL1A1 NM_000088.3(COL1A1): c.4358_4362delAATTC (p.Glu1453Glyfs) deletion Pathogenic rs72656352 GRCh37 Chromosome 17, 48262896: 48262900
4 COL1A1 NM_000088.3(COL1A1): c.1066G> T (p.Gly356Cys) single nucleotide variant Pathogenic rs72645365 GRCh37 Chromosome 17, 48273017: 48273017
5 COL1A1 NM_000088.3(COL1A1): c.3235G> A (p.Gly1079Ser) single nucleotide variant Pathogenic rs72654802 GRCh37 Chromosome 17, 48265483: 48265483
6 COL1A1 COL1A1, IVS26DS, G-A, +1 single nucleotide variant Pathogenic
7 COL1A1 NM_000088.3(COL1A1): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72656314 GRCh37 Chromosome 17, 48264847: 48264847
8 COL1A1 COL1A1, IVS19DS, G-C, +1 single nucleotide variant Pathogenic
9 COL1A1 NM_000088.3(COL1A1): c.2161C> T (p.Gln721Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922145 GRCh37 Chromosome 17, 48268818: 48268818
10 COL1A1 NM_000088.3(COL1A1): c.91C> T (p.Gln31Ter) single nucleotide variant Pathogenic rs794726873 GRCh37 Chromosome 17, 48278784: 48278784
11 COL1A1 NM_000088.3(COL1A1): c.959G> A (p.Gly320Asp) single nucleotide variant Likely pathogenic rs72645353 GRCh37 Chromosome 17, 48273559: 48273559
12 COL1A1 NM_000088.3(COL1A1): c.1767+2T> G single nucleotide variant Pathogenic rs794727394 GRCh37 Chromosome 17, 48271302: 48271302
13 COL1A1 NM_000088.3(COL1A1): c.2866G> A (p.Gly956Arg) single nucleotide variant Likely pathogenic rs797045033 GRCh38 Chromosome 17, 50189239: 50189239
14 COL1A1 NM_000088.3(COL1A1): c.2775delT (p.Gly926Valfs) deletion Pathogenic rs878853274 GRCh37 Chromosome 17, 48266792: 48266792
15 COL1A1 NM_000088.3(COL1A1): c.1678G> A (p.Gly560Ser) single nucleotide variant Pathogenic rs67507747 GRCh37 Chromosome 17, 48271393: 48271393
16 COL1A1 NM_000088.3(COL1A1): c.3935G> A (p.Trp1312Ter) single nucleotide variant Likely pathogenic rs886039880 GRCh37 Chromosome 17, 48263748: 48263748
17 COL1A1 NM_000088.3(COL1A1): c.1875+1G> C single nucleotide variant Pathogenic rs72651622 GRCh37 Chromosome 17, 48270157: 48270157
18 COL1A1 NM_000088.3(COL1A1): c.2434G> A (p.Gly812Ser) single nucleotide variant Likely pathogenic rs886042260 GRCh37 Chromosome 17, 48267705: 48267705
19 COL1A1 NM_000088.3(COL1A1): c.3567delT (p.Gly1190Valfs) deletion Pathogenic rs886042286 GRCh37 Chromosome 17, 48264248: 48264248
20 COL1A1 NM_000088.3(COL1A1): c.2930G> T (p.Gly977Val) single nucleotide variant Likely pathogenic rs886042308 GRCh37 Chromosome 17, 48266536: 48266536
21 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
22 COL1A1 NM_000088.3(COL1A1): c.896delG (p.Gly299Valfs) deletion Pathogenic rs886042473 GRCh37 Chromosome 17, 48273852: 48273852
23 COL1A1 NM_000088.3(COL1A1): c.643-2A> G single nucleotide variant Pathogenic rs886042602 GRCh37 Chromosome 17, 48275148: 48275148
24 COL1A1 NM_000088.3(COL1A1): c.2991delT (p.Gly998Valfs) deletion Pathogenic rs886042603 GRCh37 Chromosome 17, 48266318: 48266318
25 COL1A1 NM_000088.3(COL1A1): c.3939C> A (p.Tyr1313Ter) single nucleotide variant Pathogenic rs886042609 GRCh37 Chromosome 17, 48263744: 48263744
26 COL1A1 NM_000088.3(COL1A1): c.3162delT (p.Gly1055Alafs) deletion Pathogenic rs72654794 GRCh37 Chromosome 17, 48265936: 48265936
27 COL1A1 NM_000088.3(COL1A1): c.2089C> T (p.Arg697Ter) single nucleotide variant Pathogenic rs72651642 GRCh37 Chromosome 17, 48269187: 48269187
28 COL1A2 NM_000089.3(COL1A2): c.2656G> A (p.Gly886Ser) single nucleotide variant Likely pathogenic rs886043796 GRCh37 Chromosome 7, 94053738: 94053738
Sources

Expression for Osteogenesis Imperfecta, Type I

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Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type I.
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Pathways for Osteogenesis Imperfecta, Type I

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GO Terms for Osteogenesis Imperfecta, Type I

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Sources for Osteogenesis Imperfecta, Type I

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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