WRN, WRN RecQ like helicase, 7486

N. diseases: 172; N. variants: 89
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 GeneticVariation disease BEFREE The WRN protein along with ATM, BRCA1, BRCA2, and RAD51 among others, comprise a DNA repair system by homologous recombination, and its alterations are associated with forms of hereditary PCa. 31831298 2020
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.010 GeneticVariation disease BEFREE Prostatic carcinoma with neuroendocrine differentiation harboring the EWSR1-FEV fusion transcript in a man with the WRN G327X germline mutation: A new variant of prostatic carcinoma or a member of the Ewing sarcoma family of tumors? 31831298 2020
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 GeneticVariation disease BEFREE Inherited mutations in RecQ helicases result in Bloom Syndrome (BLM mutation), Werner Syndrome (WRN mutation), Rothmund-Thomson Syndrome (RECQL4 mutation), and other genetic diseases, including cancer. 31772289 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 GeneticVariation group BEFREE Inherited mutations in RecQ helicases result in Bloom Syndrome (BLM mutation), Werner Syndrome (WRN mutation), Rothmund-Thomson Syndrome (RECQL4 mutation), and other genetic diseases, including cancer. 31772289 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 GeneticVariation group BEFREE Inherited mutations in RecQ helicases result in Bloom Syndrome (BLM mutation), Werner Syndrome (WRN mutation), Rothmund-Thomson Syndrome (RECQL4 mutation), and other genetic diseases, including cancer. 31772289 2019
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		0.080 GeneticVariation disease BEFREE Inherited mutations in RecQ helicases result in Bloom Syndrome (BLM mutation), Werner Syndrome (WRN mutation), Rothmund-Thomson Syndrome (RECQL4 mutation), and other genetic diseases, including cancer. 31772289 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 AlteredExpression disease BEFREE The dual role of HCV NS3 and NS3/4A proteins in regulating the function and expression level of the WRN protein intensifies the effect of impairment on DNA repair. 31462559 2019
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease BEFREE Possible WS was considered and both WRN and LMNA genes were analyzed. 31270292 2019
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease BEFREE We propose that transcriptional misregulation of downstream genes by the absence of WRN protein contributes to the variable premature aging phenotypes of WS. 31259468 2019
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease BEFREE The gene responsible for WS is the WRN gene. 31235391 2019
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 GeneticVariation disease BEFREE Werner syndrome is a rare autosomal recessive disorder where Werner (WRN) gene is mutated. 31085421 2019
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease BEFREE Here, we summarize the latest progress of the molecular understandings of WRN protein, highlight the advantages of using different WS model systems, including Caenorhabditis elegans, Drosophila melanogaster and induced pluripotent stem cell (iPSC) systems. 30666569 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.110 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 GeneticVariation disease BEFREE The induced pluripotent stem cell (iPSC) technology has provided a unique opportunity to develop disease-specific models and personalized treatment for genetic disorders, and is well suitable for the study of Werner syndrome (WS), an autosomal recessive disease with adult onset of premature aging caused by mutations in the RecQ like helicase (WRN) gene. 30206203 2018
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		0.400 GeneticVariation disease BEFREE The induced pluripotent stem cell (iPSC) technology has provided a unique opportunity to develop disease-specific models and personalized treatment for genetic disorders, and is well suitable for the study of Werner syndrome (WS), an autosomal recessive disease with adult onset of premature aging caused by mutations in the RecQ like helicase (WRN) gene. 30206203 2018
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 GeneticVariation disease BEFREE The ocular and systemic findings in this patient in combination with the homozygous WRN mutation indicated the definitive Werner's syndrome diagnosis. 30107835 2018
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 GeneticVariation disease BEFREE Yet, little is known about the impact of WRN mutations on the central nervous system in both humans and mouse models of WS. 29908963 2018
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 AlteredExpression disease BEFREE Further study is needed to elucidate the precise role of retinal WRN protein expression in the development of CMO in those with Werner syndrome. 29705892 2019
CUI: C0410422
Disease: Chronic multifocal osteomyelitis
Chronic multifocal osteomyelitis 		0.010 AlteredExpression disease BEFREE Further study is needed to elucidate the precise role of retinal WRN protein expression in the development of CMO in those with Werner syndrome. 29705892 2019
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		0.030 GeneticVariation disease BEFREE However, in MDR, the gene-gene interaction among the five SNPs (WRN-rs4733220 (G>A), WRN-rs1801195 (T>G), OGG1-rs2072668 (G>C) and OGG1-rs2304277 (A>G)) on ARC risk was significant (OR = 5.03, 95% CI: 3.54~7.13). 29689049 2018
CUI: C0268134
Disease: DNA Repair-Deficiency
DNA Repair-Deficiency 		0.300 Biomarker phenotype CTD_human Reduction of Werner Syndrome Protein Enhances G:C → A:T Transition by O6-Methylguanine in Human Cells. 29616805 2018