| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.090 | GeneticVariation | disease | BEFREE | In a recent sequencing study, an individual with juvenile-onset diabetes was observed to be homozygous for a rare missense variant (c.1672C>T, p.R558C) in the WFS1 gene. | 30014265 | 2018 | ||||
|
0.090 | Biomarker | disease | BEFREE | WFS1 protein dysfunction results in a range of neuroendocrine syndromes and is mostly characterized by juvenile-onset diabetes mellitus and optic atrophy. | 29406269 | 2018 | ||||
|
0.090 | Biomarker | disease | BEFREE | These results provide new insights into the roles of WFS1 in UPR and mechanism of monogenic DM. | 28271591 | 2017 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | WFS1 mutations are responsible for Wolfram syndrome (WS) characterized by juvenile-onset diabetes mellitus and optic atrophy, and for low-frequency sensorineural hearing loss (LFSNHL). | 24890733 | 2015 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | The objectives of this work were to estimate the prevalence of patients fulfilling clinical criteria for WS in a cohort of subjects diagnosed as T1DM and to identify causal WFS1 gene mutations in those individuals meeting clinical criteria for the disease. | 25895475 | 2015 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Wolfram syndrome is an autosomal recessive disorder caused by mutations in WFS1 and is characterized by insulin-dependent diabetes mellitus, optic atrophy, and deafness. | 24227685 | 2014 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Homozygous or compound heterozygous WFS1 mutations were found in 22 of the 399 JOD probands (5.5%), resulting in WFS (17 probands) or in non-syndromic non-autoimmune diabetes mellitus (DM, five probands). | 18806274 | 2008 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene. | 15008830 | 2004 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | These data suggest that the WFS1 gene may have a role in the development of common type 1 diabetes as a nonautoimmune genetic basis. | 10679252 | 2000 |