This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive d... See more...

Aliases for WFS1 Gene

Aliases for WFS1 Gene

  • Wolframin ER Transmembrane Glycoprotein 2 3 5
  • Wolfram Syndrome 1 (Wolframin) 2 3
  • Wolframin 3 4
  • WFS 2 3
  • CTRCT41 3
  • WFRS 3
  • WFSL 3
  • WFS1 5

External Ids for WFS1 Gene

Previous HGNC Symbols for WFS1 Gene

  • DFNA6
  • DFNA14
  • DFNA38

Previous GeneCards Identifiers for WFS1 Gene

  • GC04P006167
  • GC04P006366
  • GC04P006264
  • GC04P006336
  • GC04P006389
  • GC04P006271

Summaries for WFS1 Gene

Entrez Gene Summary for WFS1 Gene

  • This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

GeneCards Summary for WFS1 Gene

WFS1 (Wolframin ER Transmembrane Glycoprotein) is a Protein Coding gene. Diseases associated with WFS1 include Wolfram-Like Syndrome, Autosomal Dominant and Wolfram Syndrome 1. Among its related pathways are Protein processing in endoplasmic reticulum and Unfolded Protein Response (UPR). Gene Ontology (GO) annotations related to this gene include transporter activity and calmodulin binding.

UniProtKB/Swiss-Prot Summary for WFS1 Gene

  • Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store.

Gene Wiki entry for WFS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WFS1 Gene

Genomics for WFS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for WFS1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J006268 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 280.4 +15.9 15862 14.5 SP1 NCOR1 ZNF600 NFIC POLR2A ZIC2 MXD4 BCL11A KLF11 MBD2 WFS1 PPP2R2C JAKMIP1 CRMP1 HSALNG0032622 lnc-PPP2R2C-2 lnc-WFS1-4
GH04J006259 Enhancer 0.2 Ensembl 250.7 +0.3 333 1.4 WFS1 HSALNG0032622 lnc-WFS1-4 ENSG00000288588 PPP2R2C
GH04J006308 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 +49.0 48970 1.3 ZIC2 MXD4 ZNF341 HOMEZ ZBTB7B THAP11 ELF1 KLF9 SMAD4 SP2 LOC107986257 WFS1 piR-43980 PPP2R2C
GH04J006262 Enhancer 0.7 Ensembl 26.4 +3.4 3433 2.4 REST TRIM22 ZFP64 HOMEZ CTCF SMAD4 RAD21 SMC3 TFAP4 ELF3 WFS1 JAKMIP1 LINC02495 ENSG00000251408 HSALNG0032622 lnc-WFS1-4 PPP2R2C
GH04J006297 Enhancer 0.6 VISTA dbSUPER 25.4 +37.7 37745 2.2 ZNF133 WFS1 HSALNG0032623 piR-43022 LOC107986257 PPP2R2C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WFS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WFS1

Top Transcription factor binding sites by QIAGEN in the WFS1 gene promoter:
  • Arnt
  • GATA-1
  • Gfi-1
  • MyoD
  • NRSF form 1
  • NRSF form 2
  • Pax-4a
  • PPAR-gamma1
  • PPAR-gamma2
  • ZID

Genomic Locations for WFS1 Gene

Latest Assembly
42,898 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
33,416 bases
Plus strand

(GRCh37/hg19 by Ensembl)
33,417 bases
Plus strand

Genomic View for WFS1 Gene

Genes around WFS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WFS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WFS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WFS1 Gene

Proteins for WFS1 Gene

  • Protein details for WFS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B2R797
    • D3DVT1
    • Q8N6I3
    • Q9UNW6

    Protein attributes for WFS1 Gene

    890 amino acids
    Molecular mass:
    100292 Da
    Quaternary structure:
    No Data Available

neXtProt entry for WFS1 Gene

Post-translational modifications for WFS1 Gene

  • Glycosylation at Asn661 and Asn746
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for WFS1 Gene

Domains & Families for WFS1 Gene

Gene Families for WFS1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for WFS1 Gene

Suggested Antigen Peptide Sequences for WFS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51211, highly similar to Wolframin (B4DJ99_HUMAN)
  • Wolframin (WFS1_HUMAN)
genes like me logo Genes that share domains with WFS1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for WFS1 Gene

Function for WFS1 Gene

Molecular function for WFS1 Gene

UniProtKB/Swiss-Prot Function:
Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store.
GENATLAS Biochemistry:
putative transmembrane protein,100.3kDa,highly expressed in pancreatic islets,with loss of function by mutations in Wolfram syndrome

Phenotypes From GWAS Catalog for WFS1 Gene

Gene Ontology (GO) - Molecular Function for WFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 21044950
GO:0005516 calmodulin binding IEA --
GO:0031625 ubiquitin protein ligase binding IDA 20160352
GO:0033613 activating transcription factor binding IEA --
GO:0048306 calcium-dependent protein binding IEA --
genes like me logo Genes that share ontologies with WFS1: view
genes like me logo Genes that share phenotypes with WFS1: view

Human Phenotype Ontology for WFS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for WFS1 Gene

MGI Knock Outs for WFS1:

Animal Models for research

  • Taconic Biosciences Mouse Models for WFS1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WFS1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for WFS1 Gene

Localization for WFS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WFS1 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WFS1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 2
nucleus 2
cytosol 2
extracellular 1
cytoskeleton 1
peroxisome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for WFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,ISS --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005789 endoplasmic reticulum membrane NAS,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with WFS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for WFS1 Gene

Pathways & Interactions for WFS1 Gene

genes like me logo Genes that share pathways with WFS1: view

Pathways by source for WFS1 Gene

SIGNOR curated interactions for WFS1 Gene


Gene Ontology (GO) - Biological Process for WFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 20160352
GO:0001822 kidney development IMP 9817917
GO:0003091 renal water homeostasis IMP 9817917
GO:0006983 ER overload response TAS 17947299
GO:0007601 visual perception IMP 9771706
genes like me logo Genes that share ontologies with WFS1: view

Drugs & Compounds for WFS1 Gene

(1) Drugs for WFS1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for WFS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with WFS1: view

Transcripts for WFS1 Gene

mRNA/cDNA for WFS1 Gene

8 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WFS1

Alternative Splicing Database (ASD) splice patterns (SP) for WFS1 Gene

No ASD Table

Relevant External Links for WFS1 Gene

GeneLoc Exon Structure for

Expression for WFS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WFS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for WFS1 Gene

This gene is overexpressed in Ovary (10.7) and Prostate (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WFS1 Gene

Protein tissue co-expression partners for WFS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WFS1

SOURCE GeneReport for Unigene cluster for WFS1 Gene:


mRNA Expression by UniProt/SwissProt for WFS1 Gene:

Tissue specificity: Highly expressed in heart followed by brain, placenta, lung and pancreas. Weakly expressed in liver, kidney and skeletal muscle. Also expressed in islet and beta-cell insulinoma cell line.

Evidence on tissue expression from TISSUES for WFS1 Gene

  • Nervous system(4.8)
  • Pancreas(2.9)
  • Eye(2.8)
  • Lung(2.4)
  • Muscle(2.3)
  • Skin(2.3)
  • Heart(2.2)
  • Kidney(2.2)
  • Liver(2.1)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WFS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • hypothalamus
  • inner ear
  • middle ear
  • mouth
  • neck
  • outer ear
  • pharynx
  • pituitary gland
  • thyroid
  • esophagus
  • heart
  • heart valve
  • lung
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • toe
  • upper limb
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with WFS1: view

Primer products for research

No data available for mRNA differential expression in normal tissues for WFS1 Gene

Orthologs for WFS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for WFS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia WFS1 29
  • 98.74 (n)
(Bos Taurus)
Mammalia WFS1 29 30
  • 87.09 (n)
(Canis familiaris)
Mammalia WFS1 29 30
  • 85.56 (n)
(Rattus norvegicus)
Mammalia Wfs1 29
  • 84.87 (n)
(Mus musculus)
Mammalia Wfs1 29 16 30
  • 84.83 (n)
(Monodelphis domestica)
Mammalia WFS1 30
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia WFS1 30
  • 45 (a)
(Gallus gallus)
Aves WFS1 29 30
  • 71.61 (n)
(Anolis carolinensis)
Reptilia WFS1 30
  • 76 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia wfs1 29
  • 71.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3995 29
(Danio rerio)
Actinopterygii wfs1b 29 30
  • 61.67 (n)
wfs1a 30
  • 45 (a)
Fruit Fly
(Drosophila melanogaster)
Insecta wfs1 29 30
  • 44.2 (n)
CG4917 31
  • 24 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004409 29
  • 42.56 (n)
Species where no ortholog for WFS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for WFS1 Gene

Gene Tree for WFS1 (if available)
Gene Tree for WFS1 (if available)
Evolutionary constrained regions (ECRs) for WFS1: view image
Alliance of Genome Resources:
Additional Orthologs for WFS1

Paralogs for WFS1 Gene

No data available for Paralogs for WFS1 Gene

Variants for WFS1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for WFS1 Gene

Arg-456-His, Arg-611-His and Ile-720-Val polymorphisms are in tight linkage disequilibrium with one another and associated with type 1 diabetes in Japanese.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WFS1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1000139 Uncertain Significance: not provided 6,289,083(+) C/T
NM_006005.3(WFS1):c.412C>T (p.Arg138Cys)
1001196 Uncertain Significance: not provided 6,302,279(+) C/G
NM_006005.3(WFS1):c.2484C>G (p.Ile828Met)
1003765 Uncertain Significance: not provided 6,301,188(+) G/A
NM_006005.3(WFS1):c.1393G>A (p.Ala465Thr)
1004079 Uncertain Significance: not provided 6,301,612(+) T/G
NM_006005.3(WFS1):c.1817T>G (p.Val606Gly)
1008197 Uncertain Significance: not provided 6,302,043(+) G/A
NM_006005.3(WFS1):c.2248G>A (p.Ala750Thr)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for WFS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for WFS1 Gene

Variant ID Type Subtype PubMed ID
dgv640n27 CNV loss 19166990
dgv8933n54 CNV loss 21841781
esv1010760 CNV deletion 20482838
esv2726993 CNV deletion 23290073
esv2726994 CNV deletion 23290073
esv2726996 CNV deletion 23290073
esv2726997 CNV deletion 23290073
esv3306214 CNV mobile element insertion 20981092
esv3409014 CNV insertion 20981092
esv34196 OTHER inversion 12058347
esv3563322 CNV deletion 23714750
esv3563323 CNV deletion 23714750
nsv1074681 CNV deletion 25765185
nsv1123746 CNV deletion 24896259
nsv1145021 CNV deletion 24896259
nsv4212 CNV insertion 18451855
nsv469711 CNV loss 16826518
nsv593495 CNV loss 21841781
nsv593498 CNV loss 21841781

Variation tolerance for WFS1 Gene

Residual Variation Intolerance Score: 98.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.84; 96.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WFS1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

Disorders for WFS1 Gene

MalaCards: The human disease database

(65) MalaCards diseases for WFS1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
wolfram-like syndrome, autosomal dominant
  • wfsl
wolfram syndrome 1
  • wfs1
cataract 41
  • ctrct41
deafness, autosomal dominant 6
  • dfna6
wolfram syndrome
  • diabetes insipidus and mellitus with optic atrophy and deafness
- elite association - COSMIC cancer census association via MalaCards
Search WFS1 in MalaCards View complete list of genes associated with diseases


  • Wolfram syndrome 1 (WFS1) [MIM:222300]: A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. {ECO:0000269 PubMed:10521293, ECO:0000269 PubMed:11161832, ECO:0000269 PubMed:11295831, ECO:0000269 PubMed:15605410, ECO:0000269 PubMed:21538838, ECO:0000269 PubMed:22226368, ECO:0000269 PubMed:9771706, ECO:0000269 PubMed:9817917}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA6 is a low-frequency hearing loss in which frequencies of 2000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high-frequency hearing is generally preserved, patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high-frequency loss later in life. DFNA6 worsens over time without progressing to profound deafness. {ECO:0000269 PubMed:11709537, ECO:0000269 PubMed:11709538, ECO:0000269 PubMed:12181639, ECO:0000269 PubMed:17517145, ECO:0000269 PubMed:18518985, ECO:0000269 PubMed:18688868, ECO:0000269 PubMed:21356526, ECO:0000269 PubMed:24462758, ECO:0000269 PubMed:25388789}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296]: A disease characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges. {ECO:0000269 PubMed:16648378, ECO:0000269 PubMed:20069065, ECO:0000269 PubMed:21538838}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Cataract 41 (CTRCT41) [MIM:116400]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. {ECO:0000269 PubMed:23531866}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for WFS1 Gene

Wolfram syndrome,autosomal recessive,progressive neurodegenerative disorder,diabetes insipidus,non autoimmune insulin dependent diabetes mellitus,(optic atrophy,neurosensory deafness,renal-tract abnormalities,late ataxia and myoclonus),peripheral neuropathy psychiatric illness,Dueto-vasopressin neuron loss in the supraoptic nucleus and defect in precursor processing

Additional Disease Information for WFS1

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with WFS1: view

Publications for WFS1 Gene

  1. Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. (PMID: 20069065) Hogewind BF … Cremers CW (Molecular vision 2010) 3 4 22 72
  2. A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings. (PMID: 18518985) Bramhall NF … Street VA (BMC medical genetics 2008) 3 4 22 72
  3. Common variants in WFS1 confer risk of type 2 diabetes. (PMID: 17603484) Sandhu MS … Barroso I (Nature genetics 2007) 3 22 40 72
  4. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. (PMID: 11709537) Bespalova IN … Lesperance MM (Human molecular genetics 2001) 3 4 22 72
  5. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. (PMID: 11709538) Young TL … Cator T (Human molecular genetics 2001) 3 4 22 72

Products for WFS1 Gene

Sources for WFS1 Gene