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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Sources:
19GeneReviews, 33MalaCards
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MalaCards: 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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Sources:
19GeneReviews, 20GeneTests, 22GTR
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Classifications:

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


Aliases & Descriptions:

wfs1-related disorders 19 20 22


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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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Wfs1-Related Disorders

Search NIH Clinical Center for Wfs1-Related Disorders

Genetic Tests for Wfs1-Related Disorders

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Sources:
20GeneTests, 22GTR
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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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Sources:
52PubMed
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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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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Wfs1-Related Disorders:

1
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Wfs1-Related Disorders

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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
  • Antibodies

Sources for Wfs1-Related Disorders

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet