MCID: WNT005
MIFTS: 10

Wnt1-Related Osteogenesis Imperfecta malady

Categories: Genetic diseases, Bone diseases, Rare diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Wnt1-Related Osteogenesis Imperfecta

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Aliases & Descriptions for Wnt1-Related Osteogenesis Imperfecta:

Name: Wnt1-Related Osteogenesis Imperfecta 24
Osteogenesis Imperfecta, Type Xv 24 68
 
Oi15 24

Classifications:



Summaries for Wnt1-Related Osteogenesis Imperfecta

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MalaCards based summary: Wnt1-Related Osteogenesis Imperfecta, also known as osteogenesis imperfecta, type xv, is related to osteogenesis imperfecta, type xv. An important gene associated with Wnt1-Related Osteogenesis Imperfecta is WNT1 (Wnt Family Member 1).

Related Diseases for Wnt1-Related Osteogenesis Imperfecta

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Symptoms & Phenotypes for Wnt1-Related Osteogenesis Imperfecta

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Drugs & Therapeutics for Wnt1-Related Osteogenesis Imperfecta

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Wnt1-Related Osteogenesis Imperfecta

Genetic Tests for Wnt1-Related Osteogenesis Imperfecta

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Genetic tests related to Wnt1-Related Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Wnt1-Related Osteogenesis Imperfecta24 WNT1

Anatomical Context for Wnt1-Related Osteogenesis Imperfecta

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Publications for Wnt1-Related Osteogenesis Imperfecta

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Variations for Wnt1-Related Osteogenesis Imperfecta

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Clinvar genetic disease variations for Wnt1-Related Osteogenesis Imperfecta:

5
id Gene Variation Type Significance SNP ID Assembly Location
1WNT1NM_005430.3(WNT1): c.859dupC (p.His287Profs)duplicationPathogenic, risk factorrs387907353GRCh37Chr 12, 49375169: 49375169

Expression for genes affiliated with Wnt1-Related Osteogenesis Imperfecta

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Search GEO for disease gene expression data for Wnt1-Related Osteogenesis Imperfecta.

Pathways for genes affiliated with Wnt1-Related Osteogenesis Imperfecta

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GO Terms for genes affiliated with Wnt1-Related Osteogenesis Imperfecta

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Sources for Wnt1-Related Osteogenesis Imperfecta

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet