OI15
MCID: WNT005
MIFTS: 10

Wnt1-Related Osteogenesis Imperfecta (OI15) malady

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

Aliases & Classifications for Wnt1-Related Osteogenesis Imperfecta

Aliases & Descriptions for Wnt1-Related Osteogenesis Imperfecta:

Name: Wnt1-Related Osteogenesis Imperfecta 24
Osteogenesis Imperfecta, Type Xv 24 69
Oi15 24

Classifications:



Summaries for Wnt1-Related Osteogenesis Imperfecta

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

Symptoms & Phenotypes for Wnt1-Related Osteogenesis Imperfecta

Drugs & Therapeutics for Wnt1-Related Osteogenesis Imperfecta

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

Genetic Tests for Wnt1-Related Osteogenesis Imperfecta

Genetic tests related to Wnt1-Related Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Wnt1-Related Osteogenesis Imperfecta 24

Anatomical Context for Wnt1-Related Osteogenesis Imperfecta

Publications for Wnt1-Related Osteogenesis Imperfecta

Variations for Wnt1-Related Osteogenesis Imperfecta

ClinVar genetic disease variations for Wnt1-Related Osteogenesis Imperfecta:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WNT1 NM_005430.3(WNT1): c.859dupC (p.His287Profs) duplication Pathogenic,risk factor rs387907353 GRCh37 Chromosome 12, 49375169: 49375169
2 WNT1 NM_005430.3(WNT1): c.624+4A> G single nucleotide variant Pathogenic rs387907354 GRCh37 Chromosome 12, 49374476: 49374476
3 WNT1 NM_005430.3(WNT1): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs387907355 GRCh37 Chromosome 12, 49374413: 49374413
4 WNT1 NM_005430.3(WNT1): c.884C> A (p.Ser295Ter) single nucleotide variant Pathogenic rs387907356 GRCh37 Chromosome 12, 49375194: 49375194
5 WNT1 NM_005430.3(WNT1): c.946_949dupAACA (p.Ser317Lysfs) duplication Pathogenic rs387907357 GRCh37 Chromosome 12, 49375256: 49375259
6 WNT1 NM_005430.3(WNT1): c.1063G> T (p.Val355Phe) single nucleotide variant Pathogenic rs387907358 GRCh37 Chromosome 12, 49375373: 49375373
7 WNT1 NM_005430.3(WNT1): c.1025delC (p.Glu343Serfs) deletion Pathogenic rs727505392 GRCh37 Chromosome 12, 49375335: 49375335

Expression for Wnt1-Related Osteogenesis Imperfecta

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

Pathways for Wnt1-Related Osteogenesis Imperfecta

GO Terms for Wnt1-Related Osteogenesis Imperfecta

Sources for Wnt1-Related Osteogenesis Imperfecta

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
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