MCID: WFS001
MIFTS: 10

Wfs1-Related Disorders malady

Genetic diseases (common) category

Aliases & Classifications for Wfs1-Related Disorders

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Aliases & Descriptions for Wfs1-Related Disorders:

Name: Wfs1-Related Disorders 21 22 24


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 (Wolfram Syndrome 1 (Wolframin)).

GeneReviews summary for wfs

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 Disorders22 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.1441_1447dupCTGAAGG (p.Val483Alafs)duplicationPathogenicrs727503745GRCh37Chr 4, 6302963: 6302969
2WFS1NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr)single nucleotide variantLikely pathogenic, Pathogenicrs28937893GRCh37Chr 4, 6303668: 6303668
3WFS1NM_006005.3(WFS1): c.2486T> C (p.Leu829Pro)single nucleotide variantPathogenicrs104893883GRCh37Chr 4, 6304008: 6304008
4WFS1NM_006005.3(WFS1): c.2096C> T (p.Thr699Met)single nucleotide variantPathogenicrs28937894GRCh37Chr 4, 6303618: 6303618
5WFS1NM_006005.3(WFS1): c.2492G> A (p.Gly831Asp)single nucleotide variantPathogenicrs28937895GRCh37Chr 4, 6304014: 6304014
6WFS1NM_006005.3(WFS1): c.1901A> C (p.Lys634Thr)single nucleotide variantPathogenicrs104893882GRCh37Chr 4, 6303423: 6303423
7WFS1NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys)single nucleotide variantPathogenicrs74315205GRCh37Chr 4, 6304112: 6304112
8WFS1NM_006005.3(WFS1): c.2576G> A (p.Arg859Gln)single nucleotide variantPathogenicrs121912618GRCh37Chr 4, 6304098: 6304098
9WFS1NM_006005.3(WFS1): c.2054G> C (p.Arg685Pro)single nucleotide variantPathogenicrs142668478GRCh37Chr 4, 6303576: 6303576
10WFS1NM_006005.3(WFS1): c.2141A> C (p.Asn714Thr)single nucleotide variantPathogenicrs397517196GRCh37Chr 4, 6303663: 6303663

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet