MCID: WFS001

Wfs1-Related Disorders malady

Category: Genetic diseases (common)

Aliases & Classifications for Wfs1-Related Disorders

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Aliases & Descriptions for Wfs1-Related Disorders:

Name: Wfs1-Related Disorders 23 24 27

Classifications:



Summaries for Wfs1-Related Disorders

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MalaCards based summary: Wfs1-Related Disorders An important gene associated with Wfs1-Related Disorders is WFS1 (Wolframin ER Transmembrane Glycoprotein).

GeneReviews for NBK4144

Related Diseases for Wfs1-Related Disorders

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Symptoms & Phenotypes for Wfs1-Related Disorders

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Drugs & Therapeutics for Wfs1-Related Disorders

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Wfs1-Related Disorders

Genetic Tests for Wfs1-Related Disorders

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Genetic tests related to Wfs1-Related Disorders:

id Genetic test Affiliating Genes
1 Wfs1-Related Disorders27 24 WFS1

Anatomical Context for Wfs1-Related Disorders

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Publications for Wfs1-Related Disorders

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Articles related to Wfs1-Related Disorders:

idTitleAuthorsYear
1
WFS1-Related Disorders (20301750)
1993

Variations for Wfs1-Related Disorders

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Clinvar genetic disease variations for Wfs1-Related Disorders:

5
id Gene Variation Type Significance SNP ID Assembly Location
1WFS1NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr)SNVLikely pathogenic, Pathogenicrs28937893GRCh37Chr 4, 6303668: 6303668
2WFS1NM_006005.3(WFS1): c.2096C> T (p.Thr699Met)SNVPathogenicrs28937894GRCh37Chr 4, 6303618: 6303618
3WFS1NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys)SNVPathogenicrs74315205GRCh37Chr 4, 6304112: 6304112
4WFS1NM_006005.3(WFS1): c.2576G> A (p.Arg859Gln)SNVPathogenicrs121912618GRCh37Chr 4, 6304098: 6304098

Expression for genes affiliated with Wfs1-Related Disorders

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Search GEO for disease gene expression data for Wfs1-Related Disorders.

Pathways for genes affiliated with Wfs1-Related Disorders

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GO Terms for genes affiliated with Wfs1-Related Disorders

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Sources for Wfs1-Related Disorders

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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