WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs771409809
rs771409809
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C1852464
Disease:
Abnormality of the cervical spine 		T 0.700 CausalMutation CLINVAR
dbSNP: rs771409809
rs771409809
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C1848873
Disease:
Abnormality of the diaphragm 		T 0.700 CausalMutation CLINVAR
dbSNP: rs771409809
rs771409809
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C4021789
Disease:
Abnormality of the vertebral column 		T 0.700 CausalMutation CLINVAR
dbSNP: rs734312
rs734312
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0522254
Disease:
Analgesic Overuse Headache 		0.010 GeneticVariation BEFREE To test the influence of WFS1 polymorphisms on medication overuse headache (MOH), a chronic headache condition related to symptomatic drugs overuse, we analyzed 82 MOH patients for the WFS1 His611Arg polymorphism, and performed a comparison between clinical features of Arg/Arg (R/R) and non-R/R individuals. 17719176 2007
dbSNP: rs771409809
rs771409809
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0003706
Disease:
Arachnodactyly 		T 0.700 CausalMutation CLINVAR
dbSNP: rs4689388
rs4689388
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C1272321
Disease:
Autoantibody measurement 		T 0.700 GeneticVariation GWASDB Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. 19734900 2009
dbSNP: rs1801208
rs1801208
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0004364
Disease:
Autoimmune Diseases 		0.010 GeneticVariation BEFREE Frequencies of autoimmunity characteristics (ICA or GAD-Ab positiveness and combination of autoimmune thyroid disease) were decreased in the R456H-positive patients compared to the R456H-negative patients. 10679252 2000
dbSNP: rs1801208
rs1801208
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0178468
Disease:
Autoimmune thyroid disease 		0.010 GeneticVariation BEFREE Frequencies of autoimmunity characteristics (ICA or GAD-Ab positiveness and combination of autoimmune thyroid disease) were decreased in the R456H-positive patients compared to the R456H-negative patients. 10679252 2000
dbSNP: rs1805069
rs1805069
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0005586
Disease:
Bipolar Disorder 		0.010 GeneticVariation BEFREE None had the A559T and A602V mutations, and no association of G576S and H611R with bipolar disorder was found. 12565131 2003
dbSNP: rs2230720
rs2230720
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0005586
Disease:
Bipolar Disorder 		0.010 GeneticVariation BEFREE None had the A559T and A602V mutations, and no association of G576S and H611R with bipolar disorder was found. 12565131 2003
dbSNP: rs55814513
rs55814513
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0005586
Disease:
Bipolar Disorder 		0.010 GeneticVariation BEFREE None had the A559T and A602V mutations, and no association of G576S and H611R with bipolar disorder was found. 12565131 2003
dbSNP: rs734312
rs734312
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0005586
Disease:
Bipolar Disorder 		0.010 GeneticVariation BEFREE None had the A559T and A602V mutations, and no association of G576S and H611R with bipolar disorder was found. 12565131 2003
dbSNP: rs398123066
rs398123066
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C3805412
Disease:
CATARACT 41 		0.800 GeneticVariation UNIPROT
dbSNP: rs398123066
rs398123066
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C3805412
Disease:
CATARACT 41 		G 0.800 CausalMutation CLINVAR
dbSNP: rs771409809
rs771409809
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C1840379
Disease:
Cerebellar vermis hypoplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs734312
rs734312
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0852733
Disease:
Completed Suicide 		0.010 GeneticVariation BEFREE The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, and rs734312 in WFS1 gene were associated to the male completed suicide. 19115052 2009
dbSNP: rs387906930
rs387906930
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C1865866
Disease:
Congenital sensorineural hearing loss 		0.010 GeneticVariation BEFREE Their father has congenital sensorineural hearing loss and developed optic atrophy.He is heterozygous for A684V in WFS1. 21067485 2010
dbSNP: rs4689388
rs4689388
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0010068
Disease:
Coronary heart disease 		0.700 GeneticVariation GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011
dbSNP: rs771409809
rs771409809
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0010964
Disease:
Dandy-Walker Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104893882
rs104893882
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C1833021
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family. 12181639 2002
dbSNP: rs104893882
rs104893882
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C1833021
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. 11709537 2001
dbSNP: rs104893882
rs104893882
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C1833021
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. 18688868 2008
dbSNP: rs104893882
rs104893882
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C1833021
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss. 21356526 2011
dbSNP: rs104893882
rs104893882
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C1833021
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment. 17517145 2007
dbSNP: rs104893882
rs104893882
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C1833021
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings. 18518985 2008