MCID: WFS001
MIFTS: 7

Wfs1-Related Disorders

Categories: Genetic diseases

Aliases & Classifications for Wfs1-Related Disorders

MalaCards integrated aliases for Wfs1-Related Disorders:

Name: Wfs1-Related Disorders 23 24 29

Classifications:



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:

id Genetic test Affiliating Genes
1 Wfs1-Related Disorders 29 24 WFS1

Anatomical Context for Wfs1-Related Disorders

Publications for Wfs1-Related Disorders

Articles related to Wfs1-Related Disorders:

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

Variations for Wfs1-Related Disorders

ClinVar genetic disease variations for Wfs1-Related Disorders:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WFS1 NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28937893 GRCh37 Chromosome 4, 6303668: 6303668
2 WFS1 NM_006005.3(WFS1): c.2486T> C (p.Leu829Pro) single nucleotide variant Pathogenic rs104893883 GRCh37 Chromosome 4, 6304008: 6304008
3 WFS1 NM_006005.3(WFS1): c.2492G> A (p.Gly831Asp) single nucleotide variant Pathogenic rs28937895 GRCh37 Chromosome 4, 6304014: 6304014
4 WFS1 NM_006005.3(WFS1): c.1901A> C (p.Lys634Thr) single nucleotide variant Pathogenic rs104893882 GRCh37 Chromosome 4, 6303423: 6303423
5 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic rs74315205 GRCh37 Chromosome 4, 6304112: 6304112
6 WFS1 NM_006005.3(WFS1): c.2054G> C (p.Arg685Pro) single nucleotide variant Pathogenic rs142668478 GRCh37 Chromosome 4, 6303576: 6303576
7 WFS1 NM_006005.3(WFS1): c.2141A> C (p.Asn714Thr) single nucleotide variant Pathogenic rs397517196 GRCh37 Chromosome 4, 6303663: 6303663

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....