MCID: WFS001
MIFTS: 10

Wfs1-Related Disorders malady

Genetic diseases (common) category
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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 (Wolfram syndrome 1 (wolframin)).

GeneReviews summary for wfs

Aliases & Classifications for Wfs1-Related Disorders

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Wfs1-Related Disorders, Aliases & Descriptions:

Name: Wfs1-Related Disorders 19 20 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


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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Drug clinical trials:

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Search 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 Disorders20 22 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:

6
id Gene Name Type Significance SNP ID Assembly Location
1WFS1NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr)single nucleotide variantPathogenicrs28937893GRCh37Chr 4, 6303668: 6303668
2WFS1NM_006005.3(WFS1): c.2486T> C (p.Leu829Pro)single nucleotide variantPathogenicrs104893883GRCh37Chr 4, 6304008: 6304008
3WFS1NM_006005.3(WFS1): c.2096C> T (p.Thr699Met)single nucleotide variantPathogenicrs28937894GRCh37Chr 4, 6303618: 6303618
4WFS1NM_006005.3(WFS1): c.2492G> A (p.Gly831Asp)single nucleotide variantPathogenicrs28937895GRCh37Chr 4, 6304014: 6304014
5WFS1NM_006005.3(WFS1): c.1901A> C (p.Lys634Thr)single nucleotide variantPathogenicrs104893882GRCh37Chr 4, 6303423: 6303423
6WFS1NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys)single nucleotide variantPathogenicrs74315205GRCh37Chr 4, 6304112: 6304112
7WFS1NM_006005.3(WFS1): c.2576G> A (p.Arg859Gln)single nucleotide variantPathogenicrs121912618GRCh37Chr 4, 6304098: 6304098

Expression for genes affiliated with Wfs1-Related Disorders

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Expression patterns in normal tissues for genes affiliated with Wfs1-Related Disorders

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

Pathways for genes affiliated with Wfs1-Related Disorders

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Compounds for genes affiliated with Wfs1-Related Disorders

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GO Terms for genes affiliated with Wfs1-Related Disorders

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Products for genes affiliated with Wfs1-Related Disorders

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  • Antibodies
  • Proteins
  • Lysates

Sources for Wfs1-Related Disorders

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet