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: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease CLINGEN Mutational inactivation of the gene WRN causes Werner syndrome, an autosomal recessive disease characterized by premature aging, elevated genomic instability and increased cancer incidence. 15235603 2004
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease CLINGEN The gene responsible for WS (known as WRN) was identified by positional cloning. 8602509 1996
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease CLINGEN Analysis of helicase gene mutations in Japanese Werner's syndrome patients. 9048918 1997
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease CLINGEN Accelerated loss of telomeric repeats may not explain accelerated replicative decline of Werner syndrome cells. 8641691 1996
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease CLINGEN The gene defective in WS, WRN, encodes a DNA helicase. 10757812 2000
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease CLINGEN Primary tail fibroblast cultures from K577M-WRN mice showed three characteristics of WS cells: hypersensitivity to 4-nitroquinoline-1-oxide (4NQO), reduced replicative potential, and reduced expression of the endogenous WRN protein. 10628995 2000
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease CLINGEN Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. 10678659 2000
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Unusual features of thyroid carcinomas in Japanese patients with Werner syndrome and possible genotype-phenotype relations to cell type and race. 10440702 1999
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy. 28338660 2017
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND The gene responsible for WS (known as WRN) was identified by positional cloning. 8602509 1996
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND The gene responsible for WS (known as WRN) was identified by positional cloning. 8602509 1996
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 GeneticVariation disease UNIPROT The present communication summarizes, from among 99 WS subjects, the spectrum of 50 distinct mutations discovered by our group and by others since the WRN gene (also called RECQL2 or REQ3) was first cloned in 1996; 25 of these have not previously been published. 16673358 2006
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.350 GeneticVariation disease UNIPROT
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 GermlineCausalMutation disease ORPHANET The present communication summarizes, from among 99 WS subjects, the spectrum of 50 distinct mutations discovered by our group and by others since the WRN gene (also called RECQL2 or REQ3) was first cloned in 1996; 25 of these have not previously been published. 16673358 2006
CUI: C0025286
Disease: Meningioma
Meningioma 		0.410 Biomarker disease HPO
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.410 Biomarker disease HPO
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.180 Biomarker disease HPO
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.130 Biomarker group HPO
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.120 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.120 Biomarker disease HPO
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.110 Biomarker disease HPO
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.110 Biomarker disease HPO
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.110 Biomarker disease HPO
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.110 Biomarker disease HPO
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.110 Biomarker disease HPO