WFS1 - wolframin ER transmembrane glycoprotein Gene

Also Known as WFS; WFRS; WFSL; CTRCT41

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7466

About WFS1

Cytogenetic location: 4p16.1 Genomic coordinates (GRCh38): 4:6,269,850-6,303,265 (from NCBI)

This gene has 15 transcripts (splice variants), 267 orthologues and is associated with 14 phenotypes. Ubiquitous expression in ovary (RPKM 44.4), fat (RPKM 34.2) and 24 other tissues.

Summary

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]

WFS1 Products (2)

mRNA Protein Name
NM_001145853.1 NP_001139325.1 wolframin
NM_006005.3 NP_005996.2 wolframin
Molecular Function GO Annotation Evidence References Source
enables ATPase binding IPI
IPI: Inferred from physical interaction
17947299 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17947299 GOA
enables ubiquitin protein ligase binding IDA
IDA: Inferred from direct assay
20160352 GOA
Biological Process GO Annotation Evidence References Source
involved in ERAD pathway IDA
IDA: Inferred from direct assay
20160352 GOA
involved in calcium ion homeostasis IDA
IDA: Inferred from direct assay
14527944 GOA
involved in endoplasmic reticulum calcium ion homeostasis IDA
IDA: Inferred from direct assay
16989814 GOA
involved in glucose homeostasis IMP
IMP: Inferred from mutant phenotype
9817917 GOA
involved in kidney development IMP
IMP: Inferred from mutant phenotype
9817917 GOA
involved in negative regulation of ATF6-mediated unfolded protein response IDA
IDA: Inferred from direct assay
20160352 GOA
involved in negative regulation of apoptotic process IMP
IMP: Inferred from mutant phenotype
23035048 GOA
involved in negative regulation of neuron apoptotic process IMP
IMP: Inferred from mutant phenotype
9771706 GOA
involved in negative regulation of programmed cell death IMP
IMP: Inferred from mutant phenotype
9771706 GOA
involved in negative regulation of response to endoplasmic reticulum stress IMP
IMP: Inferred from mutant phenotype
23035048 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
20160352 GOA
involved in negative regulation of type B pancreatic cell apoptotic process IMP
IMP: Inferred from mutant phenotype
16087305 GOA
involved in nervous system process IMP
IMP: Inferred from mutant phenotype
9817917 GOA
involved in positive regulation of calcium ion transport IDA
IDA: Inferred from direct assay
16989814 GOA
involved in positive regulation of protein metabolic process IDA
IDA: Inferred from direct assay
17947299 GOA
involved in positive regulation of protein ubiquitination IDA
IDA: Inferred from direct assay
20160352 GOA
involved in protein stabilization IDA
IDA: Inferred from direct assay
20160352 GOA
involved in protein stabilization IMP
IMP: Inferred from mutant phenotype
23035048 GOA
involved in renal water homeostasis IMP
IMP: Inferred from mutant phenotype
9817917 GOA
involved in response to endoplasmic reticulum stress IDA
IDA: Inferred from direct assay
15994758 GOA
involved in sensory perception of sound IMP
IMP: Inferred from mutant phenotype
17492394 GOA
involved in visual perception IMP
IMP: Inferred from mutant phenotype
9771706 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
23035048 GOA
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
11181571 GOA
located in secretory granule IDA
IDA: Inferred from direct assay
23035048 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

wolframin

  • Wolfram syndrome 1 (wolframin)

WFS1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
WFS1 O76024 CLPP Homo sapiens Q16740 32814053
Intra
WFS1 O76024 CLPP Homo sapiens Q16740 32814053
Intra
WFS1 O76024 CLPP Homo sapiens Q16740 32814053
Intra
WFS1 O76024 USP2 Homo sapiens O75604-3 32814053
Intra
WFS1 O76024 USP2 Homo sapiens O75604-3 32814053
Intra
WFS1 O76024 USP2 Homo sapiens O75604-3 32814053
Intra
WFS1 O76024 DYNLT1 Homo sapiens P63172 32814053
Intra
WFS1 O76024 DYNLT1 Homo sapiens P63172 32814053
Intra
WFS1 O76024 DYNLT1 Homo sapiens P63172 32814053
Intra
WFS1 O76024 WWOX Homo sapiens Q9NZC7-5 32814053
Intra
WFS1 O76024 WWOX Homo sapiens Q9NZC7-5 32814053
Intra
WFS1 O76024 WWOX Homo sapiens Q9NZC7-5 32814053
Intra
WFS1 O76024 AQP6 Homo sapiens Q13520 32296183
Intra
WFS1 O76024 AQP6 Homo sapiens Q13520 32296183
Intra
WFS1 O76024 AQP6 Homo sapiens Q13520 32296183
Intra
WFS1 O76024 GLI4 Homo sapiens P10075 32814053
Intra
WFS1 O76024 GLI4 Homo sapiens P10075 32814053
Intra
WFS1 O76024 GLI4 Homo sapiens P10075 32814053
Intra
WFS1 O76024 FAM209A Homo sapiens Q5JX71 32296183
Intra
WFS1 O76024 FAM209A Homo sapiens Q5JX71 32296183
Intra
WFS1 O76024 FAM209A Homo sapiens Q5JX71 32296183
Intra
WFS1 O76024 IL18RAP Homo sapiens O95256 32814053
Intra
WFS1 O76024 UBE2J2 Homo sapiens Q8N2K1 32814053
Intra
WFS1 O76024 UBE2J2 Homo sapiens Q8N2K1 32814053
Intra
WFS1 O76024 UBE2J2 Homo sapiens Q8N2K1 32814053
Intra
WFS1 O76024 PALS1 Homo sapiens Q8N3R9 32814053
Intra
WFS1 O76024 PALS1 Homo sapiens Q8N3R9 32814053
Intra
WFS1 O76024 PALS1 Homo sapiens Q8N3R9 32814053
Intra
WFS1 O76024 ANXA8 Homo sapiens P13928 32814053
Intra
WFS1 O76024 ANXA8 Homo sapiens P13928 32814053
Intra
WFS1 O76024 ANXA8 Homo sapiens P13928 32814053
Intra
WFS1 O76024 PXN Homo sapiens Q7Z7K5 32814053
Intra
WFS1 O76024 PXN Homo sapiens Q7Z7K5 32814053
Intra
WFS1 O76024 PXN Homo sapiens Q7Z7K5 32814053
Intra
WFS1 O76024 ARNT2 Homo sapiens Q86TN1 32814053
Intra
WFS1 O76024 ARNT2 Homo sapiens Q86TN1 32814053
Intra
WFS1 O76024 ARNT2 Homo sapiens Q86TN1 32814053
Intra
WFS1 O76024 NOTCH1 Homo sapiens Q6IAD4 32814053
Intra
WFS1 O76024 NOTCH1 Homo sapiens Q6IAD4 32814053
Intra
WFS1 O76024 NOTCH1 Homo sapiens Q6IAD4 32814053
Intra
WFS1 O76024 RNF38 Homo sapiens Q9H0F5-2 32814053
Intra
WFS1 O76024 RNF38 Homo sapiens Q9H0F5-2 32814053
Intra
WFS1 O76024 RNF38 Homo sapiens Q9H0F5-2 32814053
Intra
WFS1 O76024 SENP3 Homo sapiens Q9H4L4 32814053
Intra
WFS1 O76024 SENP3 Homo sapiens Q9H4L4 32814053
Intra
WFS1 O76024 SENP3 Homo sapiens Q9H4L4 32814053
Intra
WFS1 O76024 CCT2 Homo sapiens P78371 32814053
Intra
WFS1 O76024 CCT2 Homo sapiens P78371 32814053
Intra
WFS1 O76024 CCT2 Homo sapiens P78371 32814053
Intra
WFS1 O76024 ATP2A2 Homo sapiens P16615 25274773
Intra
WFS1 O76024 ATP2A2 Homo sapiens P16615 25274773
Intra
WFS1 O76024 PSMB8 Homo sapiens P28062-2 32814053
Intra
WFS1 O76024 PSMB8 Homo sapiens P28062-2 32814053
Intra
WFS1 O76024 PSMB8 Homo sapiens P28062-2 32814053
Intra
WFS1 O76024 PIAS1 Homo sapiens O75925 32814053
Intra
WFS1 O76024 PIAS1 Homo sapiens O75925 32814053
Intra
WFS1 O76024 PIAS1 Homo sapiens O75925 32814053
Intra
WFS1 O76024 TERF1 Homo sapiens P54274 21044950
Intra
WFS1 O76024 POLB Homo sapiens P06746 32814053
Intra
WFS1 O76024 POLB Homo sapiens P06746 32814053
Intra
WFS1 O76024 POLB Homo sapiens P06746 32814053
Intra
WFS1 O76024 ATP1B1 Homo sapiens P05026
Y2H
17947299
Intra
WFS1 O76024 ATP1B1 Homo sapiens P05026 17947299
Intra
WFS1 O76024 APP Homo sapiens P05067 32814053
Intra
WFS1 O76024 APP Homo sapiens P05067 32814053
Intra
WFS1 O76024 APP Homo sapiens P05067 32814053
Intra
WFS1 O76024 CD79A Homo sapiens P11912 32296183
Intra
WFS1 O76024 CD79A Homo sapiens P11912 32296183
Intra
WFS1 O76024 CD79A Homo sapiens P11912 32296183
Intra
WFS1 O76024 ESR1 Homo sapiens P03372 32814053
Intra
WFS1 O76024 ESR1 Homo sapiens P03372 32814053
Intra
WFS1 O76024 ESR1 Homo sapiens P03372 32814053
Intra
WFS1 O76024 METTL27 Homo sapiens Q8N6F8 32814053
Intra
WFS1 O76024 METTL27 Homo sapiens Q8N6F8 32814053
Intra
WFS1 O76024 METTL27 Homo sapiens Q8N6F8 32814053
Intra
WFS1 O76024 RNF168 Homo sapiens Q8IYW5 32814053
Intra
WFS1 O76024 RNF168 Homo sapiens Q8IYW5 32814053
Intra
WFS1 O76024 RNF168 Homo sapiens Q8IYW5 32814053
Intra
WFS1 O76024 CITED2 Homo sapiens Q99967 32814053
Intra
WFS1 O76024 CITED2 Homo sapiens Q99967 32814053
Intra
WFS1 O76024 CITED2 Homo sapiens Q99967 32814053
Intra
WFS1 O76024 FBLN5 Homo sapiens Q9UBX5 32814053
Intra
WFS1 O76024 FBLN5 Homo sapiens Q9UBX5 32814053
Intra
WFS1 O76024 FBLN5 Homo sapiens Q9UBX5 32814053
Intra
WFS1 O76024 BECN1 Homo sapiens Q14457 32814053
Intra
WFS1 O76024 BECN1 Homo sapiens Q14457 32814053
Intra
WFS1 O76024 BECN1 Homo sapiens Q14457 32814053
Intra
WFS1 O76024 SMURF1 Homo sapiens Q9HCE7-2 32814053
Intra
WFS1 O76024 SMURF1 Homo sapiens Q9HCE7-2 32814053
Intra
WFS1 O76024 SMURF1 Homo sapiens Q9HCE7-2 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Wolfram-Like Syndrome, Autosomal Dominant
  • Wolfram-Like Syndrome

  • WFSL

  • Hearing Loss, Progressive, With Optic Atrophy And/Or Impaired Glucose Regulation

  • Wolfram-Like Syndrome Autosomal Dominant

  • Hearing Loss Progressive With Optic Atrophy And/Or Impaired Glucose Regulation

  • Wolfram Syndrome-Like Disease

  • Wolfram-Like Disorder

Cataract 41
  • CTRCT41

  • Cataract 41, Congenital Nuclear Type

  • Congenital Nuclear Type Cataract 41

  • Congenital Nuclear Cataract 41

  • Cataract, Type 41

Wolfram Syndrome 1
  • WFS1

  • Didmoad

  • Wfs

  • Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness

  • Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness

  • Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Syndrome

  • Wolfram Syndrome

Deafness, Autosomal Dominant 6
  • DFNA6

  • Dfna14

  • Dfna38

  • Deafness, Autosomal Dominant 6/14/38

  • Autosomal Dominant Nonsyndromic Deafness 6

  • Deafness, Autosomal Dominant 14

  • Deafness, Autosomal Dominant 38

  • Autosomal Dominant Deafness 14

  • Autosomal Dominant Deafness 38

  • Autosomal Dominant Deafness 6

  • Deafness, Autosomal Dominant, 6

  • Deafness Autosomal Dominant 14

  • Deafness Autosomal Dominant 38

  • Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 6

  • Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 6

Wolfram Syndrome
  • Didmoad Syndrome

  • Didmoad

  • Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness

  • Wfs

  • Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness

  • Didmoadud

  • Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome

  • Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome

Hydronephrosis
  • Stricture Of Ureteropelvic Junction With Hydronephrosis

  • Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified

Diaphragm Disease
  • Abnormality Of The Diaphragm

  • Disease Of Diaphragm

  • Diaphragmatic Disorder

  • Disorder Of Diaphragm

Duane Retraction Syndrome 1
  • Duane Syndrome

  • Duane Retraction Syndrome

  • Drs

  • Duane Anomaly

  • Stilling-Turk-Duane Syndrome

  • DURS1

  • Dus

  • Retraction Syndrome

  • Duane Anomaly, Isolated

  • Type 1 Duane Retraction Syndrome

Laryngomalacia
  • Congenital Laryngomalacia

  • Congenital Laryngeal Stridor

  • Laryngomalacia Congenital

  • Floppy Epiglottis

Diabetes Mellitus
  • Diabetes

Diaphragmatic Eventration
Duane Retraction Syndrome
  • Stilling-Turk-Duane Syndrome

  • Duane'S Syndrome

  • Duane Syndrome

  • Isolated Duane Retraction Syndrome

  • Co-Contractive Retraction Syndrome

  • Duane Anomaly, Isolated

  • Ocular Retraction Syndrome

  • Drs

  • Durs

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Night Blindness
  • Nyctalopia

Sensorineural Hearing Loss
  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency

Dandy-Walker Syndrome
  • Dandy-Walker Malformation

  • DWS

  • Atresia Of Foramina Of Magendie And Luschka

  • Dandy-Walker Complex

  • Dandy-Walker Cyst

  • Dandy-Walker Deformity

  • Dandy Walker Cyst

  • Dw Complex

  • Dandy-Walker Syndrome Or Malformation

  • Dandy-Walker Variant

  • Mega Cisterna Magna

  • Dwm

  • Hydrocephalus, Internal, Dandy-Walker Type

  • Hydrocephalus, Noncommunicating, Dandy-Walker Type

  • Luschka-Magendie Foramina Atresia

  • Isolated Dandy-Walker Malformation

  • Mega-Cisterna Magna

  • Dandy Walker Variant

  • Atresia Of Foramen Of Luschka

  • Atresia Of Foramen Of Magendie

  • Congenital Blockage Of Foramen Magendie

Cleft Palate, Isolated
  • Cleft Palate

  • Isolated Cleft Palate

  • CPI

  • Cp

  • Palatoschisis

  • Cleft Palate Isolated

  • Uranostaphyloschisis

  • Congenital Fissure Of Palate

  • Cleft Of Secondary Palate

Early-Onset Nuclear Cataract
Rare Genetic Deafness
  • Rare Genetic Hearing Loss

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna
  • Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

  • Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

  • Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

  • Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

  • Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

  • Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

  • Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Diabetes Insipidus
Wolfram Syndrome 2
  • WFS2

Insulinoma
  • Islet Cell Adenoma

  • Insulin-Producing Tumor Of Islet Cells

  • Adenoma Islet Cell

  • Islet Cell Tumor

  • Experimental Organism Islet Cell Adenoma Neoplasm

3-Methylglutaconic Aciduria, Type Iii
  • Optic Atrophy

  • 3-Methylglutaconic Aciduria Type 3

  • Costeff Syndrome

  • Mga3

  • Costeff Optic Atrophy Syndrome

  • Optic Atrophy Plus Syndrome

  • Infantile Optic Atrophy With Chorea And Spastic Paraplegia

  • 3-Methylglutaconic Aciduria Type Iii

  • Autosomal Recessive Optic Atrophy Plus Syndrome

  • Autosomal Recessive Optic Atrophy Type 3

  • Opa3 Defect

  • MGCA3

  • Mga, Type Iii

  • Iraqi Jewish Optic Atrophy Plus

  • Mga Type Iii

  • Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

  • Iraqi-Jewish 'Optic Atrophy Plus'

  • Optic Atrophy 3, Autosomal Recessive

  • Opa3, Autosomal Recessive

  • Opa3-Related 3-Methylglutaconic Aciduria

  • Iraqi-Jewish Optic Atrophy Plus

  • Atrophy Of Optic Disc

  • 3-Alpha Methylglutaconic Aciduria Type Iii

  • Optic Atrophy 3

  • Optic Atrophy Infantile With Chorea And Spastic Paraplegia

  • Autosomal Recessive Opa3

  • Autosomal Recessive Optic Atrophy 3

  • 3-Methylglutaconic Aciduria 3

  • 3-Alpha-Methylglutaconic Aciduria Type 3

  • Optic Atrophy 3 Autosomal Recessive

  • Atrophy, Optic

  • Atrophy, Optic, Plus Syndrome

  • Optic Nerve Atrophy

  • Primary Optic Atrophy

  • Oa - [Optic Atrophy]

  • Second Cranial Nerve Atrophy

  • Second Cranium Nerve Atrophy

Nonsyndromic Hearing Loss
  • Nonsyndromic Deafness

  • Nonsyndromic Hearing Impairment

  • Nonsyndromic Hearing Loss And Deafness

  • Deafness, Nonsyndromic

  • Isolated Deafness

Spastic Ataxia
  • Spax

  • Ataxia, Spastic

Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
  • Konigsmark Syndrome

  • DFNA1

  • Autosomal Dominant Nonsyndromic Deafness 1

  • Lfhl1

  • Deafness, Autosomal Dominant 1

  • Autosomal Dominant Deafness 1

  • Autosomal Dominant Deafness 1, With Or Without Thrombocytopenia

  • Hereditary Low Frequency Hearing Loss 1

  • Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome

  • Diaph1-Related Sensorineural Deafness-Thrombocytopenia Syndrome

  • Hereditary Low-Frequency Hearing Loss

  • Hereditary Low-Frequency Sensorineural Hearing Loss

  • Lfsnhl1

  • Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 1

  • Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 1

  • Deafness, Autosomal Dominant, Type 1

Thiamine-Responsive Megaloblastic Anemia Syndrome
  • TRMA

  • Rogers Syndrome

  • Thiamine-Responsive Myelodysplasia

  • Thiamine-Responsive Anemia Syndrome

  • Thiamine Metabolism Dysfunction Syndrome 1

  • Thmd1

  • Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness

  • Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Deafness

  • Thiamine Responsive Megaloblastic Anemia Syndrome

  • Megaloblastic Anemia Thiamine-Responsive With Diabetes Mellitus And Sensorineural Deafness

  • Thiamine-Responsive Megaloblastic Anemia

  • Thiamine-Responsive Anaemia Syndrome

  • Thiamine-Responsive Megaloblastic Anaemia Syndrome

  • Thiamine-Responsive Megaloblastic Anaemia With Diabetes Mellitus And Sensorineural Deafness

  • Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Hearing Loss

Cranial Nerve Disease
  • Cranial Nerve Disorder

  • Disorder Of Cranial Nerve

  • Cranial Nerve Diseases

Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
  • Dominant Optic Atrophy Plus Syndrome

  • DOA+

  • Adoa

  • Autosomal Dominant Optic Atrophy

  • Doa

  • Optic Atrophy Plus Syndrome

  • Dominant Optic Atrophy

  • Optic Atrophy With Or Without Deafness Ophthalmoplegia Myopathy Ataxia And Neuropathy

  • Optic Atrophy, Dominant

  • 3-Methylglutaconic Aciduria Type 3

  • Optic Atrophy, Autosomal Dominant

Optic Atrophy 7 With Or Without Auditory Neuropathy
  • Optic Atrophy 7

  • OPA7

  • Autosomal Recessive Optic Atrophy, Opa7 Type

  • Optic Atrophy-7

  • Atrophy, Optic, Type 7, With/Without Auditory Neuropathy

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Neuropathy
  • Peripheral Neuropathy

  • Peripheral Neuropathies

Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
  • Wolcott-Rallison Syndrome

  • Med-Iddm Syndrome

  • Iddm-Med Syndrome

  • Wolcott Rallison Syndrome

  • WRS

  • Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus

  • Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia

  • Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus

Optic Atrophy 6
  • OPA6

  • Optic Atrophy, Congenital Or Early Infantile, Autosomal Recessive

Waardenburg Syndrome, Type 1
  • Waardenburg Syndrome Type 1

  • WS1

  • Waardenburg Syndrome Type I

  • Waardenburg Syndrome With Dystopia Canthorum

  • Waardenburg'S Syndrome Type 1

  • Waardenburg Syndrome 1

  • Waardenburg Syndrome, Type I

  • Waardenburg Syndrome

Bipolar Disorder
  • Bipolar Depression

  • Manic Disorder

  • Depression, Bipolar

  • Bipolar Disorder Manic Phase

  • Depressive-Manic Psych.

  • Manic Bipolar Affective Disorder

  • Manic Bipolar I Disorder

  • Manic Depression

  • Manic Depressive Disorder

  • Mixed Bipolar Disorder

  • Bipolar Affective Disorder

  • Bipolar Affective Psychosis

  • Bipolar Spectrum Disorder

  • Manic Depressive Illness

  • Depression Bipolar

  • Bipolar Disorder, Mixed

  • Major Affective Disorder

  • Major Affective Disorder 1

  • Major Affective Disorder 2

Deafness, Autosomal Recessive 18a
  • Deafness, Autosomal Recessive 18

  • DFNB18A

  • Dfnb18

  • Autosomal Recessive Nonsyndromic Deafness 18a

  • Autosomal Recessive Deafness 18a

  • Deafness, Autosomal Recessive, 18a

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 18

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 18

  • Deafness, Autosomal Recessive, Type 18a

Deafness, Autosomal Dominant 13
  • DFNA13

  • Autosomal Dominant Nonsyndromic Deafness 13

  • Autosomal Dominant Deafness 13

  • Deafness, Autosomal Dominant, 13

  • Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 13

  • Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 13

  • Deafness, Autosomal Dominant, Type 13

Wolf-Hirschhorn Syndrome
  • Pitt-Rogers-Danks Syndrome

  • WHS

  • Chromosome 4p16.3 Deletion Syndrome

  • Wittwer Syndrome

  • 4p- Syndrome

  • Pitt Syndrome

  • 4p Deletion Syndrome

  • Distal Deletion 4p

  • Distal Monosomy 4p

  • Telomeric Deletion 4p

  • Prds

  • 4p Syndrome

  • Chromosome 4p Syndrome

  • Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

  • Wolf Syndrome

  • Chromosome 4p Deletion Syndrome

  • Chromosome 4p Monosomy

  • Del Syndrome

  • Monosomy 4p

  • Partial Monosomy 4p

  • Chromosome 4 Short Arm Deletion

Dipsogenic Diabetes Insipidus
  • Primary Polydipsia

  • Doid:0081058

  • Psychogenic Polydipsia

Deafness, Autosomal Dominant 9
  • DFNA9

  • Autosomal Dominant Nonsyndromic Deafness 9

  • Autosomal Dominant Deafness 9

  • Deafness, Autosomal Dominant, 9

  • Deafness, Autosomal Dominant, Type 9

Optic Nerve Disease
  • Optic Neuropathy

  • Disorder Of The Second Nerve

  • Optic Nerve Disorder

  • Optic Nerve

  • Abnormality Of The Optic Nerve

  • Optic Nerve Disorders

  • Neuropathy, Optic

  • Disorder Of The Optic Nerve

Asperger Syndrome
  • Asperger Disorder

  • Asperger Syndrome, Susceptibility To

Deafness, Autosomal Dominant 44
  • DFNA44

  • Autosomal Dominant Nonsyndromic Deafness 44

  • Autosomal Dominant Deafness 44

  • Deafness, Autosomal Dominant, 44

  • Deafness, Autosomal Dominant, Type 44

Infantile Cerebellar-Retinal Degeneration
  • ICRD

  • Infantile Cerebellar Retinal Degeneration

  • Degeneration, Cerebellar-Retinal, Infantile

Gestational Diabetes Insipidus
  • Transient Diabetes Insipidus Of Pregnancy

  • Diabetes Insipidus Gestational

  • Gestagenic Diabetes Insipidus

  • Doid:0081057

Neonatal Diabetes
  • Neonatal Diabetes Mellitus

  • Diabetes Mellitus Syndrome In Newborn Infant

  • Ndm

Type 1 Diabetes Mellitus
  • Diabetes Mellitus, Insulin-Dependent

  • Diabetes Mellitus Type 1

  • IDDM

  • Type 1 Diabetes

  • Insulin-Dependent Diabetes Mellitus

  • T1D

  • Juvenile-Onset Diabetes

  • Jod

  • Diabetes Mellitus, Type 1

  • Diabetes Mellitus, Insulin-Dependent-1

  • Type I Diabetes Mellitus

  • Autoimmune Diabetes

  • Juvenile Diabetes

  • Juvenile-Onset Diabetes Mellitus

  • Diabetes, Insulin Dependent

  • Insulin-Dependent Diabetes Mellitus-1

  • Diabetes Mellitus Insulin-Dependent

  • Diabetes Autoimmune

  • Diabetes Mellitus, Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 1, Susceptibility To

  • Diabetes Type 1

  • Type I Diabetes

  • Diabetes, Autoimmune

  • T1dm - [Type 1 Diabetes Mellitus]

  • Iddm - [Insulin Dependent Diabetes Mellitus]

  • Type 1 Iddm

  • Juvenile Diabetes Mellitus Without Compications

  • Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

  • Juvenile-Onset Diabetes Mellitus Without Compications

  • Ketosis-Prone Diabetes Mellitus Without Compications

  • Juvenile-Onset-Type Diabetes Mellitus Without Compications

Auditory System Disease
  • Ear Diseases

  • Ear And Mastoid Disease

Pontocerebellar Hypoplasia, Type 1e
  • Pontocerebellar Hypoplasia Type 1

  • PCH1E

  • Norman Disease

  • Pch1

  • Pontocerebellar Hypoplasia With Anterior Horn Cell Disease

  • Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy

  • Pontocerebellar Hypoplasia Type 1e

  • Pontocerebellar Hypoplasia 1e

  • Doid:0112322

  • Doid:0112330

Mood Disorder
  • Mood Disorders

  • Episodic Mood Disorder

Cortical Deafness
Permanent Neonatal Diabetes Mellitus
  • Pndm

  • Permanent Diabetes Mellitus Of Infancy

  • Pdmi

  • Neonatal Diabetes Mellitus, Permanent

Maturity-Onset Diabetes Of The Young, Type 2
  • Maturity-Onset Diabetes Of The Young Type 2

  • MODY2

  • Mody Glucokinase-Related

  • Mody Type 2

  • Mody, Type 2

  • Mody, Glucokinase-Related

  • Mody, Type Ii

  • Maturity-Onset Diabetes Of The Young 2

  • Mody-2

  • Diabetes Of The Young, Maturity-Onset, Type 2

  • Diabetes Mellitus Autosomal Dominant Type Ii

Waardenburg'S Syndrome
  • Waardenburg Syndrome

  • Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome

  • Van Der Hoeve Halbertsona Waardenburg Syndrome

  • Waardenburg Shah Syndrome

  • Waardenburg, Types I And/Or Ii

  • Mende Syndrome

  • Waardenburgs Syndrome

  • Waardenburg Syndrome, Type 4a

Neurogenic Bladder
  • Neurogenic Dysfunction Of The Urinary Bladder

  • Neurogenic Urinary Bladder Disorder

  • Neuropathic Bladder

  • Bladder Neurogenic

  • Urinary Bladder, Neurogenic

  • Neurogenic Urinary Bladder

Inner Ear Disease
  • Labyrinthine Dysfunction

  • Diseases Of Inner Ear

  • Labyrinthine Disease

  • Abnormality Of The Inner Ear

  • Labyrinth Diseases

  • Labyrinthine Disorder

  • Nonfunctioning Labyrinth

  • Labyrinthine Loss Of Function

  • Labyrinthine Syndrome

  • Labyrinthine Disorder Nos

Maturity-Onset Diabetes Of The Young
  • MODY

  • Maturity Onset Diabetes Mellitus In Young

  • Mason-Type Diabetes

  • Mason Type Diabetes

  • Maturity Onset Diabetes Of The Young

  • Mody Syndrome

  • Diabetes Of The Young, Maturity-Onset

Deafness, Autosomal Dominant 4a
  • Deafness, Autosomal Dominant 4

  • DFNA4A

  • Dfna4

  • Autosomal Dominant Nonsyndromic Deafness 4a

  • Autosomal Dominant Deafness 4a

  • Deafness, Autosomal Dominant, 4a

  • Deafness Autosomal Dominant 4

  • Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4

  • Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4

  • Deafness, Autosomal Dominant, Type 4a

Maturity-Onset Diabetes Of The Young, Type 3
  • Maturity-Onset Diabetes Of The Young Type 3

  • MODY3

  • Mody, Type Iii

  • Mody Type 3

  • Mody, Type 3

  • Maturity-Onset Diabetes Of The Young 3

  • Mody-3

  • Diabetes Of The Young, Maturity-Onset, Type 3

Maturity-Onset Diabetes Of The Young, Type 1
  • Maturity-Onset Diabetes Of The Young Type 1

  • MODY1

  • Mild Juvenile Diabetes Mellitus

  • Mody, Type I

  • Diabetes Mellitus Type 2

  • Mody Type 1

  • Mody, Type 1

  • Maturity-Onset Diabetes Of The Young 1

  • Mody-1

  • Diabetes Of The Young, Maturity-Onset, Type 1

Cornelia De Lange Syndrome 1
  • De Lange Syndrome

  • CDLS1

  • Cdl

  • Cdls

  • Typus Degenerativus Amstelodamensis

  • Brachmann-De Lange Syndrome

  • Bdls

  • Amstelodamensis Typus Degenerativus

  • Cornelia De Lange Syndrome, Type 1

Autosomal Dominant Nonsyndromic Deafness
  • Autosomal Dominant Deafness

Leber Hereditary Optic Neuropathy, Modifier Of
  • Leber Optic Atrophy

  • Leber Hereditary Optic Neuropathy

  • LHON

  • Leber'S Hereditary Optic Neuropathy

  • Leber Optic Atrophy, Susceptibility To

  • Leber'S Optic Atrophy

  • LOAM

  • Loas

  • Leber'S Disease

  • Leber'S Optic Neuropathy

  • Optic Atrophy, Hereditary, Leber

  • Lhon, Modifier Of

  • Optic Atrophy, Leber Type

  • Hereditary Optic Neuroretinopathy

  • Leber Hereditary Optic Atrophy

  • Loa

  • Optic Atrophy Leber Type

  • Leber Hereditary Optic Neuropathy, Modifier

  • Leber Hereditary Optic Neuropathy Susceptibility

  • Modifier Of Leber Hereditary Optic Neuropathy

  • Lebers Hereditary Optic Neuropathy

  • Leber Congenital Amaurosis

Leber Plus Disease
  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber

Usher Syndrome
  • Deafness-Retinitis Pigmentosa Syndrome

  • Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

  • Graefe-Usher Syndrome

  • Hallgren Syndrome

  • Usher'S Syndrome

  • Retinitis Pigmentosa-Deafness Syndrome

  • Retinitis Pigmentosa-Hearing Loss Syndrome

  • Ush

  • Usher Syndromes

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus WFS1 VGNC VGNC:107478
Canis familiaris WFS1 VGNC VGNC:48407
Rattus norvegicus WFS1 RGD RGD:68954
Bos taurus WFS1 VGNC VGNC:36936
Macaca mulatta WFS1 VGNC VGNC:78793
Mus musculus WFS1 MGD MGI:1328355
Others WFS1 NCBI