MCID: WFS001
MIFTS: 3

Wfs1-Related Disorders

Aliases & Classifications for Wfs1-Related Disorders

MalaCards integrated aliases for Wfs1-Related Disorders:

Name: Wfs1-Related Disorders 23 28

Summaries for Wfs1-Related Disorders

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

GeneReviews: NBK4144

Related Diseases for Wfs1-Related Disorders

Symptoms & Phenotypes for Wfs1-Related Disorders

Drugs & Therapeutics for Wfs1-Related Disorders

Search Clinical Trials , NIH Clinical Center for Wfs1-Related Disorders

Genetic Tests for Wfs1-Related Disorders

Genetic tests related to Wfs1-Related Disorders:

# Genetic test Affiliating Genes
1 Wfs1-Related Disorders 28 WFS1

Anatomical Context for Wfs1-Related Disorders

Publications for Wfs1-Related Disorders

Articles related to Wfs1-Related Disorders:

# Title Authors Year
1
WFS1-Related Disorders ( 20301750 )
1993

Variations for Wfs1-Related Disorders

ClinVar genetic disease variations for Wfs1-Related Disorders:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WFS1 NM_006005.3(WFS1): c.2054G> C (p.Arg685Pro) single nucleotide variant Pathogenic rs142668478 GRCh37 Chromosome 4, 6303576: 6303576
2 WFS1 NM_006005.3(WFS1): c.2141A> C (p.Asn714Thr) single nucleotide variant Pathogenic rs397517196 GRCh37 Chromosome 4, 6303663: 6303663
3 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 GRCh37 Chromosome 4, 6279306: 6279306
4 WFS1 NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28937893 GRCh37 Chromosome 4, 6303668: 6303668
5 WFS1 NM_006005.3(WFS1): c.2486T> C (p.Leu829Pro) single nucleotide variant Pathogenic rs104893883 GRCh37 Chromosome 4, 6304008: 6304008
6 WFS1 NM_006005.3(WFS1): c.1901A> C (p.Lys634Thr) single nucleotide variant Pathogenic rs104893882 GRCh37 Chromosome 4, 6303423: 6303423
7 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315205 GRCh37 Chromosome 4, 6304112: 6304112

Expression for Wfs1-Related Disorders

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

Pathways for Wfs1-Related Disorders

GO Terms for Wfs1-Related Disorders

Sources for Wfs1-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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