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 26

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 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 Disorders26 24 WFS1

Anatomical Context for Wfs1-Related Disorders

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Animal Models for Wfs1-Related Disorders or affiliated genes

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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet