1. Gene
  2. WFS1 - wolframin ER transmembrane glycoprotein Gene

WFS1 - wolframin ER transmembrane glycoprotein Gene

中文名称:沃尔夫拉明 ER 跨膜糖蛋白

种属: Homo sapiens

同用名: WFS; WFRS; WFSL; CTRCT41

基因 ID: 7466 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种跨膜蛋白,该蛋白主要位于内质网中,在大脑、胰腺、心脏和胰岛素瘤 β 细胞系中以最高水平普遍表达。该基因的突变与 Wolfram 综合征有关,也称为 DIDMOAD (尿崩症、糖尿病、视神经萎缩和耳聋) ,一种常染色体隐性遗传病。这种疾病会影响大脑和中枢神经系统。该基因的突变也可导致常染色体显性遗传性耳聋 6 (DFNA6) ,也称为 DFNA14 或 DFNA38。已发现该基因的可变剪接转录物变体。[RefSeq 提供,2009 年 3 月]

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 基因产物(2)

mRNA Protein Name
NM_001145853.1 NP_001139325.1 wolframin
NM_006005.3 NP_005996.2 wolframin
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ATPase binding IPI
IPI: 通过物理相互作用推断
17947299 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17947299 GOA
enables ubiquitin protein ligase binding IDA
IDA: 通过直接分析推断
20160352 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ERAD pathway IDA
IDA: 通过直接分析推断
20160352 GOA
involved in calcium ion homeostasis IDA
IDA: 通过直接分析推断
14527944 GOA
involved in endoplasmic reticulum calcium ion homeostasis IDA
IDA: 通过直接分析推断
16989814 GOA
involved in glucose homeostasis IMP
IMP: 通过突变表型推断
9817917 GOA
involved in kidney development IMP
IMP: 通过突变表型推断
9817917 GOA
involved in negative regulation of ATF6-mediated unfolded protein response IDA
IDA: 通过直接分析推断
20160352 GOA
involved in negative regulation of apoptotic process IMP
IMP: 通过突变表型推断
23035048 GOA
involved in negative regulation of neuron apoptotic process IMP
IMP: 通过突变表型推断
9771706 GOA
involved in negative regulation of programmed cell death IMP
IMP: 通过突变表型推断
9771706 GOA
involved in negative regulation of response to endoplasmic reticulum stress IMP
IMP: 通过突变表型推断
23035048 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
20160352 GOA
involved in negative regulation of type B pancreatic cell apoptotic process IMP
IMP: 通过突变表型推断
16087305 GOA
involved in nervous system process IMP
IMP: 通过突变表型推断
9817917 GOA
involved in positive regulation of calcium ion transport IDA
IDA: 通过直接分析推断
16989814 GOA
involved in positive regulation of protein metabolic process IDA
IDA: 通过直接分析推断
17947299 GOA
involved in positive regulation of protein ubiquitination IDA
IDA: 通过直接分析推断
20160352 GOA
involved in protein stabilization IDA
IDA: 通过直接分析推断
20160352 GOA
involved in protein stabilization IMP
IMP: 通过突变表型推断
23035048 GOA
involved in renal water homeostasis IMP
IMP: 通过突变表型推断
9817917 GOA
involved in response to endoplasmic reticulum stress IDA
IDA: 通过直接分析推断
15994758 GOA
involved in sensory perception of sound IMP
IMP: 通过突变表型推断
17492394 GOA
involved in visual perception IMP
IMP: 通过突变表型推断
9771706 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
23035048 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
11181571 GOA
located in secretory granule IDA
IDA: 通过直接分析推断
23035048 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

wolframin

Wolfram syndrome 1 (wolframin)

WFS1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra WFS1 O76024 CLPP Homo sapiens Q16740
Validated Y2H
32814053
Intra WFS1 O76024 CLPP Homo sapiens Q16740
Y2H Array
32814053
Intra WFS1 O76024 CLPP Homo sapiens Q16740
Y2H Pooling
32814053
Intra WFS1 O76024 USP2 Homo sapiens O75604-3
Validated Y2H
32814053
Intra WFS1 O76024 USP2 Homo sapiens O75604-3
Y2H Array
32814053
Intra WFS1 O76024 USP2 Homo sapiens O75604-3
Y2H Pooling
32814053
Intra WFS1 O76024 DYNLT1 Homo sapiens P63172
Validated Y2H
32814053
Intra WFS1 O76024 DYNLT1 Homo sapiens P63172
Y2H Pooling
32814053
Intra WFS1 O76024 DYNLT1 Homo sapiens P63172
Y2H Array
32814053
Intra WFS1 O76024 WWOX Homo sapiens Q9NZC7-5
Validated Y2H
32814053
Intra WFS1 O76024 WWOX Homo sapiens Q9NZC7-5
Y2H Array
32814053
Intra WFS1 O76024 WWOX Homo sapiens Q9NZC7-5
Y2H Pooling
32814053
Intra WFS1 O76024 AQP6 Homo sapiens Q13520
Y2H Prey Pooling
32296183
Intra WFS1 O76024 AQP6 Homo sapiens Q13520
Y2H Array
32296183
Intra WFS1 O76024 AQP6 Homo sapiens Q13520
Validated Y2H
32296183
Intra WFS1 O76024 GLI4 Homo sapiens P10075
Validated Y2H
32814053
Intra WFS1 O76024 GLI4 Homo sapiens P10075
Y2H Array
32814053
Intra WFS1 O76024 GLI4 Homo sapiens P10075
Y2H Pooling
32814053
Intra WFS1 O76024 FAM209A Homo sapiens Q5JX71
Y2H Prey Pooling
32296183
Intra WFS1 O76024 FAM209A Homo sapiens Q5JX71
Validated Y2H
32296183
Intra WFS1 O76024 FAM209A Homo sapiens Q5JX71
Y2H Array
32296183
Intra WFS1 O76024 IL18RAP Homo sapiens O95256
Lumier
32814053
Intra WFS1 O76024 UBE2J2 Homo sapiens Q8N2K1
Validated Y2H
32814053
Intra WFS1 O76024 UBE2J2 Homo sapiens Q8N2K1
Y2H Pooling
32814053
Intra WFS1 O76024 UBE2J2 Homo sapiens Q8N2K1
Y2H Array
32814053
Intra WFS1 O76024 PALS1 Homo sapiens Q8N3R9
Validated Y2H
32814053
Intra WFS1 O76024 PALS1 Homo sapiens Q8N3R9
Y2H Pooling
32814053
Intra WFS1 O76024 PALS1 Homo sapiens Q8N3R9
Y2H Array
32814053
Intra WFS1 O76024 ANXA8 Homo sapiens P13928
Validated Y2H
32814053
Intra WFS1 O76024 ANXA8 Homo sapiens P13928
Y2H Pooling
32814053
Intra WFS1 O76024 ANXA8 Homo sapiens P13928
Y2H Array
32814053
Intra WFS1 O76024 PXN Homo sapiens Q7Z7K5
Y2H Pooling
32814053
Intra WFS1 O76024 PXN Homo sapiens Q7Z7K5
Validated Y2H
32814053
Intra WFS1 O76024 PXN Homo sapiens Q7Z7K5
Y2H Array
32814053
Intra WFS1 O76024 ARNT2 Homo sapiens Q86TN1
Validated Y2H
32814053
Intra WFS1 O76024 ARNT2 Homo sapiens Q86TN1
Y2H Array
32814053
Intra WFS1 O76024 ARNT2 Homo sapiens Q86TN1
Y2H Pooling
32814053
Intra WFS1 O76024 NOTCH1 Homo sapiens Q6IAD4
Y2H Pooling
32814053
Intra WFS1 O76024 NOTCH1 Homo sapiens Q6IAD4
Validated Y2H
32814053
Intra WFS1 O76024 NOTCH1 Homo sapiens Q6IAD4
Y2H Array
32814053
Intra WFS1 O76024 RNF38 Homo sapiens Q9H0F5-2
Validated Y2H
32814053
Intra WFS1 O76024 RNF38 Homo sapiens Q9H0F5-2
Y2H Array
32814053
Intra WFS1 O76024 RNF38 Homo sapiens Q9H0F5-2
Y2H Pooling
32814053
Intra WFS1 O76024 SENP3 Homo sapiens Q9H4L4
Validated Y2H
32814053
Intra WFS1 O76024 SENP3 Homo sapiens Q9H4L4
Y2H Array
32814053
Intra WFS1 O76024 SENP3 Homo sapiens Q9H4L4
Y2H Pooling
32814053
Intra WFS1 O76024 CCT2 Homo sapiens P78371
Y2H Array
32814053
Intra WFS1 O76024 CCT2 Homo sapiens P78371
Y2H Pooling
32814053
Intra WFS1 O76024 CCT2 Homo sapiens P78371
Validated Y2H
32814053
Intra WFS1 O76024 ATP2A2 Homo sapiens P16615
Anti Tag CoIP
25274773
Intra WFS1 O76024 ATP2A2 Homo sapiens P16615
Anti Bait CoIP
25274773
Intra WFS1 O76024 PSMB8 Homo sapiens P28062-2
Validated Y2H
32814053
Intra WFS1 O76024 PSMB8 Homo sapiens P28062-2
Y2H Array
32814053
Intra WFS1 O76024 PSMB8 Homo sapiens P28062-2
Y2H Pooling
32814053
Intra WFS1 O76024 PIAS1 Homo sapiens O75925
Y2H Pooling
32814053
Intra WFS1 O76024 PIAS1 Homo sapiens O75925
Validated Y2H
32814053
Intra WFS1 O76024 PIAS1 Homo sapiens O75925
Y2H Array
32814053
Intra WFS1 O76024 TERF1 Homo sapiens P54274
Pull Down
21044950
Intra WFS1 O76024 POLB Homo sapiens P06746
Y2H Array
32814053
Intra WFS1 O76024 POLB Homo sapiens P06746
Validated Y2H
32814053
Intra WFS1 O76024 POLB Homo sapiens P06746
Y2H Pooling
32814053
Intra WFS1 O76024 ATP1B1 Homo sapiens P05026
Y2H
17947299
Intra WFS1 O76024 ATP1B1 Homo sapiens P05026
Anti Tag CoIP
17947299
Intra WFS1 O76024 APP Homo sapiens P05067
Y2H Array
32814053
Intra WFS1 O76024 APP Homo sapiens P05067
Y2H Pooling
32814053
Intra WFS1 O76024 APP Homo sapiens P05067
Validated Y2H
32814053
Intra WFS1 O76024 CD79A Homo sapiens P11912
Validated Y2H
32296183
Intra WFS1 O76024 CD79A Homo sapiens P11912
Y2H Array
32296183
Intra WFS1 O76024 CD79A Homo sapiens P11912
Y2H Prey Pooling
32296183
Intra WFS1 O76024 ESR1 Homo sapiens P03372
Validated Y2H
32814053
Intra WFS1 O76024 ESR1 Homo sapiens P03372
Y2H Pooling
32814053
Intra WFS1 O76024 ESR1 Homo sapiens P03372
Y2H Array
32814053
Intra WFS1 O76024 METTL27 Homo sapiens Q8N6F8
Y2H Array
32814053
Intra WFS1 O76024 METTL27 Homo sapiens Q8N6F8
Validated Y2H
32814053
Intra WFS1 O76024 METTL27 Homo sapiens Q8N6F8
Y2H Pooling
32814053
Intra WFS1 O76024 RNF168 Homo sapiens Q8IYW5
Y2H Pooling
32814053
Intra WFS1 O76024 RNF168 Homo sapiens Q8IYW5
Validated Y2H
32814053
Intra WFS1 O76024 RNF168 Homo sapiens Q8IYW5
Y2H Array
32814053
Intra WFS1 O76024 CITED2 Homo sapiens Q99967
Y2H Pooling
32814053
Intra WFS1 O76024 CITED2 Homo sapiens Q99967
Validated Y2H
32814053
Intra WFS1 O76024 CITED2 Homo sapiens Q99967
Y2H Array
32814053
Intra WFS1 O76024 FBLN5 Homo sapiens Q9UBX5
Validated Y2H
32814053
Intra WFS1 O76024 FBLN5 Homo sapiens Q9UBX5
Y2H Array
32814053
Intra WFS1 O76024 FBLN5 Homo sapiens Q9UBX5
Y2H Pooling
32814053
Intra WFS1 O76024 BECN1 Homo sapiens Q14457
Validated Y2H
32814053
Intra WFS1 O76024 BECN1 Homo sapiens Q14457
Y2H Array
32814053
Intra WFS1 O76024 BECN1 Homo sapiens Q14457
Y2H Pooling
32814053
Intra WFS1 O76024 SMURF1 Homo sapiens Q9HCE7-2
Y2H Pooling
32814053
Intra WFS1 O76024 SMURF1 Homo sapiens Q9HCE7-2
Validated Y2H
32814053
Intra WFS1 O76024 SMURF1 Homo sapiens Q9HCE7-2
Y2H Array
32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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