WRN
MCID: WRN001
MIFTS: 69

Werner Syndrome (WRN)

Categories: Bone diseases, Cancer diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Werner Syndrome

MalaCards integrated aliases for Werner Syndrome:

Name: Werner Syndrome 57 12 25 20 43 58 73 36 29 13 54 6 44 15 71
Werner's Syndrome 12 74 20 43
Adult Progeria 12 43 58
Wrn 57 20 73
Ws 12 43 58
Adult Premature Ageing Syndrome 12
Adult Premature Aging Syndrome 43
Werners Syndrome 43
Syndrome, Werner 39

Characteristics:

Orphanet epidemiological data:

58
werner syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Japan),1-9/100000; Age of onset: Adolescent,Adult;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
werner syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Werner Syndrome

MedlinePlus Genetics : 43 Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected teenagers usually do not have a growth spurt, resulting in short stature. The characteristic aged appearance of individuals with Werner syndrome typically begins to develop when they are in their twenties and includes graying and loss of hair; a hoarse voice; and thin, hardened skin. They may also have a facial appearance described as "bird-like." Many people with Werner syndrome have thin arms and legs and a thick trunk due to abnormal fat deposition.As Werner syndrome progresses, affected individuals may develop disorders of aging early in life, such as cloudy lenses (cataracts) in both eyes, skin ulcers, type 2 diabetes, diminished fertility, severe hardening of the arteries (atherosclerosis), thinning of the bones (osteoporosis), and some types of cancer. It is not uncommon for affected individuals to develop multiple, rare cancers during their lifetime. People with Werner syndrome usually live into their late forties or early fifties. The most common causes of death are cancer and atherosclerosis.

MalaCards based summary : Werner Syndrome, also known as werner's syndrome, is related to premature aging and hutchinson-gilford progeria syndrome. An important gene associated with Werner Syndrome is WRN (WRN RecQ Like Helicase), and among its related pathways/superpathways are Gene Expression and Cell Cycle, Mitotic. The drugs Insulin, Globin Zinc and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and skin, and related phenotypes are cataract and short stature

Disease Ontology : 12 A syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has material basis in mutations in the WRN gene, on chromosome 8.

GARD : 20 Werner syndrome is a condition that causes premature aging. People with this syndrome will develop and grow normally until puberty. At puberty, growth stops and adults with Werner syndrome are typically shorter than average. By the early 20s-30s, people with this syndrome develop conditions usually associated with more advanced ages. In addition, people with Werner syndrome have an increased risk of developing cancer, especially thyroid and skin cancers. Heart attack and cancer are the most common causes of death. Werner syndrome is caused by mutations in the WRN gene and is inherited in an autosomal recessive manner. This condition is diagnosed based on the symptoms and genetic testing. Treatment is based on individual symptoms and focuses on prevention of heart disease and cancer.

OMIM® : 57 Werner syndrome (WRN) is a rare autosomal recessive segmental progeroid syndrome. Patients exhibit not only an appearance of accelerated aging (premature graying, thinning of hair, skin atrophy and atrophy of subcutaneous fat), but also several disorders commonly associated with aging, including bilateral cataracts, diabetes mellitus, osteoporosis, premature arteriosclerosis, and a variety of benign and malignant neoplasms (summary by Oshima et al., 1996). (277700) (Updated 05-Mar-2021)

KEGG : 36 Werner syndrome (WS) is a premature aging disorder with a complex phenotype, which includes many age-related disorders that develop from puberty, including greying and thinning of the hair, bilateral cataract formation, type II diabetes mellitus, osteoporosis and atherosclerosis. WS patients also experience an increased risk of rare non-epithelial cancers, especially sarcomas. Death usually occurs in the fourth decade from cardiovascular compromise or cancer. WS is caused by mutation of WRN gene, that play a major role in genome stability, particularly during DNA replication and telomere metabolism.

UniProtKB/Swiss-Prot : 73 Werner syndrome: A rare autosomal recessive progeroid syndrome characterized by the premature onset of multiple age-related disorders, including atherosclerosis, cancer, non-insulin-dependent diabetes mellitus, ocular cataracts and osteoporosis. The major cause of death, at a median age of 47, is myocardial infarction.

Wikipedia : 74 Werner syndrome (WS) (sometimes Werner's syndrome), also known as "adult progeria", is a rare, autosomal... more...

GeneReviews: NBK1514

Related Diseases for Werner Syndrome

Diseases related to Werner Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 326)
# Related Disease Score Top Affiliating Genes
1 premature aging 31.9 WRN LMNA
2 hutchinson-gilford progeria syndrome 31.8 WRN LMNA HELLS ATM
3 xeroderma pigmentosum, complementation group g 31.6 WRN FEN1 EXO1
4 familial retinoblastoma 31.4 WRN RECQL4
5 rapadilino syndrome 31.4 WRN RECQL5 RECQL4 RECQL HELLS BLM
6 li-fraumeni syndrome 31.2 WRN RECQL4 MRE11 ATM
7 progeroid syndrome 31.2 WRN LMNA
8 aging 31.0 WRN PARP1 LMNA
9 seckel syndrome 30.9 XRCC5 WRN NBN EXO1 ATM
10 bloom syndrome 30.8 WRN TERF2 RPA1 RECQL5 RECQL4 RECQL
11 skin atrophy 30.6 WRN RECQL4 LMNA
12 telangiectasis 30.5 RECQL4 NBN ATM
13 fanconi anemia, complementation group j 30.2 WRN RECQL5 RECQL
14 cockayne syndrome 30.1 XRCC5 RPA1 PARP1 HELLS FEN1
15 ataxia-telangiectasia 29.8 XRCC5 RPA1 PARP1 NBN MRE11 BLM
16 dyskeratosis congenita 29.6 WRN TERF2 RECQL4 ATM
17 hereditary breast ovarian cancer syndrome 29.6 RECQL NBN MRE11 BLM ATM
18 baller-gerold syndrome 29.5 WRN RECQL5 RECQL4 RECQL FEN1 EXO1
19 nijmegen breakage syndrome 29.3 XRCC5 WRN TERF2 RPA1 NBN MRE11
20 rothmund-thomson syndrome, type 2 29.2 WRN RECQL5 RECQL4 RECQL HELLS FEN1
21 xeroderma pigmentosum, variant type 29.2 XRCC5 WRN RPA1 RECQL4 RECQL POLB
22 fanconi anemia, complementation group a 28.2 XRCC5 WRN RPA1 RECQL5 RECQL4 RECQL
23 atypical werner syndrome 11.5
24 colorectal cancer 11.3
25 tibial hemimelia 11.1
26 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 11.0
27 double uterus-hemivagina-renal agenesis 11.0
28 medulloblastoma 11.0
29 myocardial infarction 11.0
30 soft tissue sarcoma 11.0
31 flynn-aird syndrome 11.0
32 aicardi-goutieres syndrome 11.0
33 spondylosis 10.8
34 adermatoglyphia 10.8
35 schimke immunoosseous dysplasia 10.8
36 xfe progeroid syndrome 10.8
37 ruijs-aalfs syndrome 10.8
38 autosomal genetic disease 10.8
39 lens disease 10.8
40 autosomal recessive disease 10.7
41 cataract 10.6
42 systemic scleroderma 10.4
43 hypogonadism 10.3
44 meningioma, familial 10.3
45 spinal meningioma 10.3
46 secretory meningioma 10.3
47 lymphoplasmacyte-rich meningioma 10.3
48 hypertriglyceridemia, familial 10.3
49 ataxia and polyneuropathy, adult-onset 10.3
50 thyroid carcinoma 10.3

Graphical network of the top 20 diseases related to Werner Syndrome:



Diseases related to Werner Syndrome

Symptoms & Phenotypes for Werner Syndrome

Human phenotypes related to Werner Syndrome:

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 lipoatrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100578
4 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
5 slender build 58 31 hallmark (90%) Very frequent (99-80%) HP:0001533
6 premature graying of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002216
7 abnormality of the voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001608
8 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
9 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
10 white forelock 58 31 hallmark (90%) Very frequent (99-80%) HP:0002211
11 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
12 pili torti 58 31 hallmark (90%) Very frequent (99-80%) HP:0003777
13 abnormal hair whorl 58 31 hallmark (90%) Very frequent (99-80%) HP:0010721
14 abnormal thorax morphology 31 hallmark (90%) HP:0000765
15 type ii diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0005978
16 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
17 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
18 hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0000962
19 congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001635
20 myocardial infarction 58 31 frequent (33%) Frequent (79-30%) HP:0001658
21 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
22 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0100585
23 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
24 aplasia/hypoplasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008065
25 decreased fertility 58 31 frequent (33%) Frequent (79-30%) HP:0000144
26 increased bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0011001
27 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
28 pulmonary artery stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0004415
29 lack of skin elasticity 58 31 frequent (33%) Frequent (79-30%) HP:0100679
30 chondrocalcinosis 58 31 frequent (33%) Frequent (79-30%) HP:0000934
31 atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0002621
32 rocker bottom foot 58 31 frequent (33%) Frequent (79-30%) HP:0001838
33 insulin resistance 58 31 frequent (33%) Frequent (79-30%) HP:0000855
34 subcutaneous calcification 58 31 frequent (33%) Frequent (79-30%) HP:0007618
35 aplasia/hypoplasia of the testes 58 31 frequent (33%) Frequent (79-30%) HP:0010468
36 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
37 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
38 secondary amenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000869
39 sarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0100242
40 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
41 abnormality of the cerebral vasculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0100659
42 meningioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002858
43 gastrointestinal carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002672
44 breast carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0003002
45 neoplasm of the lung 58 31 occasional (7.5%) Occasional (29-5%) HP:0100526
46 neoplasm of the small intestine 58 31 occasional (7.5%) Occasional (29-5%) HP:0100833
47 ovarian neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100615
48 renal neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0009726
49 thyroid carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002890
50 squamous cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002860

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Endocrine Features:
diabetes mellitus
hypogonadism

Skeletal:
osteoporosis

Skin Nails Hair Skin:
subcutaneous calcification
scleroderma-like skin, especially of face and distal extremities
ulceration

Head And Neck Nose:
beaked nose

Head And Neck Face:
prematurely aged face

Skin Nails Hair Hair:
thin, sparse, gray
premature balding

Laboratory Abnormalities:
variegated translocation mosaicism in cultured fibroblasts
poor mitogenic response to growth factors

Growth Height:
short stature

Head And Neck Eyes:
retinal degeneration
cataracts

Cardiovascular Heart:
premature arteriosclerosis

Growth Other:
stocky trunk

Skeletal Limbs:
slender limbs

Neoplasia:
malignancy in approximately 10%
osteosarcoma and meningioma especially

Clinical features from OMIM®:

277700 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Werner Syndrome according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.98 DHX9
2 Decreased viability GR00221-A-1 9.98 EXO1 XRCC5
3 Decreased viability GR00221-A-2 9.98 XRCC5
4 Decreased viability GR00221-A-3 9.98 ATM
5 Decreased viability GR00221-A-4 9.98 ATM EXO1
6 Decreased viability GR00240-S-1 9.98 LMNA
7 Decreased viability GR00249-S 9.98 LMNA RPA1 TAGLN
8 Decreased viability GR00301-A 9.98 RPA1
9 Decreased viability GR00381-A-1 9.98 TAGLN
10 Decreased viability GR00386-A-1 9.98 BLM FEN1 LMNA RPA1 TAGLN TERF2
11 Decreased viability GR00402-S-2 9.98 PURG RPA1
12 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.88 MRE11 NBN RPA1
13 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.88 ATM BLM EXO1 MRE11 RPA1
14 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.88 ATM BLM EXO1 FEN1 MRE11 NBN

MGI Mouse Phenotypes related to Werner Syndrome:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.45 ATM BLM DHX9 EXO1 FEN1 HELLS
2 hematopoietic system MP:0005397 10.24 ATM BLM DHX9 EXO1 FEN1 HELLS
3 growth/size/body region MP:0005378 10.22 ATM BLM FEN1 HELLS LMNA NBN
4 homeostasis/metabolism MP:0005376 10.17 ATM EXO1 FEN1 HELLS LMNA MRE11
5 embryo MP:0005380 10.16 ATM BLM DHX9 FEN1 HELLS MRE11
6 immune system MP:0005387 10.16 ATM BLM DHX9 EXO1 FEN1 HELLS
7 endocrine/exocrine gland MP:0005379 10.13 ATM EXO1 FEN1 HELLS LMNA NBN
8 mortality/aging MP:0010768 10.09 ATM BLM DHX9 EXO1 FEN1 HELLS
9 digestive/alimentary MP:0005381 10.02 FEN1 LMNA POLB RECQL4 TAGLN WRN
10 neoplasm MP:0002006 9.7 ATM BLM EXO1 FEN1 MRE11 NBN
11 reproductive system MP:0005389 9.36 ATM EXO1 FEN1 HELLS LMNA MRE11

Drugs & Therapeutics for Werner Syndrome

Drugs for Werner Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Insulin, Globin Zinc
2 Hormone Antagonists
3 Hormones
4 Mitogens
5 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I, Randomized, Double-Blind, Placebo-Controlled, Single Ascending Dose (SAD) Study Including a Food Interaction Study, Followed by a Multiple Ascending Dose (MAD) Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamic Profile of Progerinin in Healthy Volunteers Recruiting NCT04512963 Phase 1 Progerinin;Placebo
2 Descriptive Study of Recombinant Human Insulin-Like Growth Factor for Osteoporosis in Werner's Syndrome Completed NCT00004815 growth hormone

Search NIH Clinical Center for Werner Syndrome

Cochrane evidence based reviews: werner syndrome

Genetic Tests for Werner Syndrome

Genetic tests related to Werner Syndrome:

# Genetic test Affiliating Genes
1 Werner Syndrome 29 WRN

Anatomical Context for Werner Syndrome

MalaCards organs/tissues related to Werner Syndrome:

40
Heart, Eye, Skin, Thyroid, Breast, Bone, Lung

Publications for Werner Syndrome

Articles related to Werner Syndrome:

(show top 50) (show all 1696)
# Title Authors PMID Year
1
Positional cloning of the Werner's syndrome gene. 6 57 25 61
8602509 1996
2
Homozygous and compound heterozygous mutations at the Werner syndrome locus. 61 54 57 6
8968742 1996
3
Werner syndrome: characterization of mutations in the WRN gene in an affected family. 61 6 57
9450180 1997
4
The Werner syndrome protein is a DNA helicase. 61 54 57 25
9288107 1997
5
Analysis of helicase gene mutations in Japanese Werner's syndrome patients. 61 6 57
9048918 1997
6
Linkage disequilibrium and haplotype studies of chromosome 8p 11.1-21.1 markers and Werner syndrome. 6 57 61
8037212 1994
7
The spectrum of WRN mutations in Werner syndrome patients. 6 61 25
16673358 2006
8
Unusual features of thyroid carcinomas in Japanese patients with Werner syndrome and possible genotype-phenotype relations to cell type and race. 25 57 61
10189141 1999
9
Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population. 61 6 25
9225981 1997
10
Ophthalmological aspects in patients with Werner's syndrome. 57 25 61
2640084 1989
11
Cellular Werner phenotypes in mice expressing a putative dominant-negative human WRN gene. 54 6 61
10628995 2000
12
WRN mutations in Werner syndrome. 57 61 54
10220139 1999
13
The premature ageing syndrome protein, WRN, is a 3'-->5' exonuclease. 25 57
9771700 1998
14
Troglitazone ameliorates insulin resistance in patients with Werner's syndrome. 57 54 61
9253306 1997
15
Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group. 57 54 61
9012406 1997
16
Evidence against DNA polymerase beta as a candidate gene for Werner syndrome. 61 54 57
8168825 1994
17
Structural basis for DNA strand separation by the unconventional winged-helix domain of RecQ helicase WRN. 61 25 54
20159463 2010
18
Telomere dysfunction as a cause of genomic instability in Werner syndrome. 61 57
17284601 2007
19
Werner syndrome and mutations of the WRN and LMNA genes in France. 61 25 54
16786514 2006
20
The enzymatic activities of the Werner syndrome protein are disabled by the amino acid polymorphism R834C. 61 54 25
15489508 2004
21
Normal telomere erosion rates at the single cell level in Werner syndrome fibroblast cells. 61 57
15150162 2004
22
Gene expression profiling in Werner syndrome closely resembles that of normal aging. 61 57
14527998 2003
23
Telomere instability in a human tumor cell line expressing a dominant-negative WRN protein. 6 61
12827497 2003
24
Genetic instability and hematologic disease risk in Werner syndrome patients and heterozygotes. 57 61
10811130 2000
25
Mutations in the WRN gene in mice accelerate mortality in a p53-null background. 61 57
10757812 2000
26
Telomerase prevents the accelerated cell ageing of Werner syndrome fibroblasts. 57 61
10615119 2000
27
Unusual features of thyroid carcinomas in Japanese patients with Werner syndrome and possible genotype-phenotype relations to cell type and race. 61 57
10440702 1999
28
The Werner syndrome protein is involved in RNA polymerase II transcription. 61 25 54
10436020 1999
29
Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines. 57 61
10480367 1999
30
An apoptosis-inducing genotoxin differentiates heterozygotic carriers for Werner helicase mutations from wild-type and homozygous mutants. 57 61
9402954 1997
31
Impaired nuclear localization of defective DNA helicases in Werner's syndrome. 57 61
9241267 1997
32
Down-regulation of the defective transcripts of the Werner's syndrome gene in the cells of patients. 61 54 25
9223443 1997
33
Cloning of a mouse homologue of the human Werner syndrome gene and assignment to 8A4 by fluorescence in situ hybridization. 57 61
9143515 1997
34
Excess of rare cancers in Werner syndrome (adult progeria). 57 61
8722214 1996
35
Genetic association between chromosome 8 microsatellite (MS8-134) and Werner syndrome (WRN): chromosome microdissection and homozygosity mapping. 61 57
7490095 1995
36
Homozygosity mapping of the Werner syndrome locus (WRN). 61 57
7851888 1994
37
Identification of mutations in DNA polymerase beta mRNAs from patients with Werner syndrome. 57 61
7545922 1994
38
The gene responsible for Werner syndrome may be a cell division "counting" gene. 57 61
8265666 1993
39
Werner syndrome and biological ageing: a molecular genetic hypothesis. 57 61
8357345 1993
40
A genetic analysis of the Werner syndrome region on human chromosome 8p. 57 61
8325642 1993
41
Nucleotide sequence analysis of human hypoxanthine phosphoribosyltransferase (HPRT) gene deletions. 61 57
1639404 1992
42
A patient with Werner's syndrome and osteosarcoma presenting as scleroderma. 61 57
1613716 1992
43
Homozygosity mapping and Werner's syndrome. 61 57
1348795 1992
44
Genetic linkage of Werner's syndrome to five markers on chromosome 8. 61 57
1741060 1992
45
Increased frequency of 6-thioguanine-resistant peripheral blood lymphocytes in Werner syndrome patients. 61 57
2303247 1990
46
Clonal structural chromosomal rearrangements in lymphocytes of four patients with Werner's syndrome. 61 57
2369072 1990
47
Mutator phenotype of Werner syndrome is characterized by extensive deletions. 57 61
2762303 1989
48
Spontaneous and induced chromosomal instability in Werner syndrome. 61 57
2459043 1988
49
Diminished response of Werner's syndrome fibroblasts to growth factors PDGF and FGF. 61 57
3022382 1986
50
Cytogenetic studies using various clastogens in two patients with Werner syndrome and control individuals. 61 57
4018799 1985

Variations for Werner Syndrome

ClinVar genetic disease variations for Werner Syndrome:

6 (show top 50) (show all 1238)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WRN NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter) SNV Pathogenic 5444 rs121908446 8:31014977-31014977 8:31157461-31157461
2 WRN NM_000553.6(WRN):c.3493C>T (p.Gln1165Ter) SNV Pathogenic 5445 rs121908447 8:31004913-31004913 8:31147397-31147397
3 WRN NM_000553.6(WRN):c.3139-1G>C SNV Pathogenic 5447 rs113993961 8:30999196-30999196 8:31141680-31141680
4 WRN NM_000553.6(WRN):c.3915dup (p.Ala1306fs) Duplication Pathogenic 5448 rs587776621 8:31014978-31014979 8:31157462-31157463
5 WRN NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) SNV Pathogenic 5449 rs17847577 8:30938648-30938648 8:31081132-31081132
6 WRN NM_000553.6(WRN):c.3686A>T (p.Gln1229Leu) SNV Pathogenic 5450 rs369158322 8:31007970-31007970 8:31150454-31150454
7 WRN RECQL2, 1-BP DEL, NT1396 Deletion Pathogenic 5451
8 WRN NM_000553.6(WRN):c.1730A>T (p.Lys577Met) SNV Pathogenic 5452 rs121908448 8:30948359-30948359 8:31090843-31090843
9 WRN NM_000553.6(WRN):c.2089-3024A>G SNV Pathogenic 38886 rs281865157 8:30966107-30966107 8:31108591-31108591
10 WRN NM_000553.6(WRN):c.2179dup (p.Cys727fs) Duplication Pathogenic 38887 rs281865158 8:30969220-30969221 8:31111704-31111705
11 WRN NM_000553.6(WRN):c.3460-2A>C SNV Pathogenic 38889 rs281865159 8:31004878-31004878 8:31147362-31147362
12 WRN NM_000553.6(WRN):c.3590del (p.Asn1197fs) Deletion Pathogenic 38890 rs281865160 8:31007871-31007871 8:31150355-31150355
13 WRN NM_000553.6(WRN):c.2546_2547dup (p.Gln850fs) Duplication Pathogenic 238140 rs878854136 8:30977854-30977855 8:31120338-31120339
14 WRN NM_000553.6(WRN):c.15del (p.Lys5fs) Deletion Pathogenic 238124 rs878854133 8:30915971-30915971 8:31058455-31058455
15 WRN NM_000553.6(WRN):c.2665C>T (p.Arg889Ter) SNV Pathogenic 404045 rs774765029 8:30982072-30982072 8:31124556-31124556
16 WRN NM_000553.6(WRN):c.502_503del (p.Lys168fs) Deletion Pathogenic 403979 rs776785728 8:30922574-30922575 8:31065058-31065059
17 WRN NM_000553.6(WRN):c.673C>T (p.Arg225Ter) SNV Pathogenic 404010 rs370324188 8:30925792-30925792 8:31068276-31068276
18 WRN NC_000008.11:g.(?_31150341)_(31157530_?)del Deletion Pathogenic 417322 8:31007857-31015046 8:31150341-31157530
19 WRN NM_000553.6(WRN):c.2103_2104del (p.Leu702fs) Deletion Pathogenic 458404 rs1383589957 8:30969144-30969145 8:31111628-31111629
20 WRN NC_000008.11:g.(?_31059147)_(31059271_?)del Deletion Pathogenic 458372 8:30916663-30916787 8:31059147-31059271
21 WRN NM_000553.6(WRN):c.2107dup (p.Thr703fs) Duplication Pathogenic 458405 rs1554526707 8:30969148-30969149 8:31111632-31111633
22 WRN NM_000553.6(WRN):c.327T>A (p.Cys109Ter) SNV Pathogenic 458445 rs371538747 8:30921922-30921922 8:31064406-31064406
23 WRN NM_000553.6(WRN):c.3033_3034AG[2] (p.Ser1013fs) Microsatellite Pathogenic 458440 rs759972548 8:30999011-30999012 8:31141495-31141496
24 WRN NM_000553.6(WRN):c.229dup (p.Asp77fs) Duplication Pathogenic 458413 rs747587698 8:30921820-30921821 8:31064304-31064305
25 WRN NM_000553.6(WRN):c.3408dup (p.Ala1137fs) Duplication Pathogenic 458452 rs1284409960 8:31004588-31004589 8:31147072-31147073
26 WRN NM_000553.6(WRN):c.2221C>T (p.Arg741Ter) SNV Pathogenic 528094 rs763089663 8:30969263-30969263 8:31111747-31111747
27 WRN NM_000553.6(WRN):c.522_523dup (p.Trp175fs) Duplication Pathogenic 528095 rs1361270203 8:30924565-30924566 8:31067049-31067050
28 WRN NM_000553.6(WRN):c.2194C>T (p.Arg732Ter) SNV Pathogenic 528133 rs143916053 8:30969236-30969236 8:31111720-31111720
29 WRN NM_000553.6(WRN):c.2604G>A (p.Trp868Ter) SNV Pathogenic 528134 rs1554528411 8:30977914-30977914 8:31120398-31120398
30 WRN NM_000553.6(WRN):c.2332C>T (p.Gln778Ter) SNV Pathogenic 528157 rs1554527775 8:30973928-30973928 8:31116412-31116412
31 WRN NM_000553.6(WRN):c.509_510dup (p.Cys171fs) Duplication Pathogenic 528158 rs1554519254 8:30924551-30924552 8:31067035-31067036
32 WRN NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs) Indel Pathogenic 566883 rs1563338855 8:30938657-30938658 8:31081141-31081142
33 WRN NM_000553.6(WRN):c.88G>T (p.Glu30Ter) SNV Pathogenic 569323 rs1198210848 8:30916051-30916051 8:31058535-31058535
34 WRN NM_000553.6(WRN):c.2170C>T (p.Gln724Ter) SNV Pathogenic 570679 rs1563357741 8:30969212-30969212 8:31111696-31111696
35 WRN NM_000553.6(WRN):c.3382del (p.Ser1128fs) Deletion Pathogenic 571933 rs778872619 8:31001132-31001132 8:31143616-31143616
36 WRN NM_000553.6(WRN):c.3102T>G (p.Tyr1034Ter) SNV Pathogenic 567775 rs1563376526 8:30999080-30999080 8:31141564-31141564
37 WRN NM_000553.6(WRN):c.751_754AACA[1] (p.Lys252fs) Microsatellite Pathogenic 573403 rs1244318419 8:30933715-30933718 8:31076199-31076202
38 WRN NM_000553.6(WRN):c.3030_3033del (p.Thr1011fs) Deletion Pathogenic 575023 rs748860208 8:30999006-30999009 8:31141490-31141493
39 WRN NM_000553.6(WRN):c.1744C>T (p.Gln582Ter) SNV Pathogenic 568746 rs757808169 8:30948373-30948373 8:31090857-31090857
40 WRN NM_000553.6(WRN):c.554T>G (p.Leu185Ter) SNV Pathogenic 577438 rs1563331288 8:30924598-30924598 8:31067082-31067082
41 WRN NM_000553.6(WRN):c.3961C>T (p.Arg1321Ter) SNV Pathogenic 578242 rs1303126572 8:31015025-31015025 8:31157509-31157509
42 WRN NM_000553.6(WRN):c.3711del (p.Lys1237fs) Deletion Pathogenic 577673 rs1563385391 8:31012160-31012160 8:31154644-31154644
43 WRN NM_000553.6(WRN):c.525del (p.Thr174_Trp175insTer) Deletion Pathogenic 579824 rs752830087 8:30924568-30924568 8:31067052-31067052
44 WRN NM_000553.6(WRN):c.1111G>T (p.Glu371Ter) SNV Pathogenic 580245 rs1563338837 8:30938654-30938654 8:31081138-31081138
45 WRN NM_000553.6(WRN):c.3682del (p.Val1228fs) Deletion Pathogenic 581085 rs1563382597 8:31007966-31007966 8:31150450-31150450
46 WRN NM_000553.6(WRN):c.3382dup (p.Ser1128fs) Duplication Pathogenic 581978 rs778872619 8:31001131-31001132 8:31143615-31143616
47 WRN NM_000553.6(WRN):c.2994T>A (p.Tyr998Ter) SNV Pathogenic 582165 rs1563376347 8:30998972-30998972 8:31141456-31141456
48 WRN NM_000553.6(WRN):c.961G>T (p.Glu321Ter) SNV Pathogenic 641343 rs779012596 8:30938504-30938504 8:31080988-31080988
49 WRN NM_000553.6(WRN):c.859del (p.Asp287fs) Deletion Pathogenic 641348 rs1585427471 8:30938401-30938401 8:31080885-31080885
50 WRN NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer) Deletion Pathogenic 640381 rs1585440064 8:30947991-30947991 8:31090475-31090475

UniProtKB/Swiss-Prot genetic disease variations for Werner Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 WRN p.Lys125Asn VAR_026588 rs387906337
2 WRN p.Lys135Glu VAR_026589 rs267607008

Cosmic variations for Werner Syndrome:

9 (show all 50)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM106056882 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 3
2 COSM111763021 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 3
3 COSM144313682 TP53 soft tissue,upper leg,sarcoma,NS c.524A>G p.H175R 17:7674890-7674890 3
4 COSM105659131 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 3
5 COSM93187807 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 3
6 COSM143375075 TP53 soft tissue,upper leg,sarcoma,NS c.524A>G p.H175R 17:7674890-7674890 3
7 COSM105624912 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 3
8 COSM122766413 TP53 soft tissue,upper leg,sarcoma,NS c.103C>T p.Q35* 17:7675113-7675113 3
9 COSM145021980 TP53 soft tissue,upper leg,sarcoma,NS c.524A>G p.H175R 17:7674890-7674890 3
10 COSM93215390 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 3
11 COSM143182864 TP53 soft tissue,upper leg,sarcoma,NS c.22C>T p.Q8* 17:7675113-7675113 3
12 COSM144334467 TP53 soft tissue,upper leg,sarcoma,NS c.382C>T p.Q128* 17:7675113-7675113 3
13 COSM143972614 TP53 soft tissue,upper leg,sarcoma,NS c.22C>T p.Q8* 17:7675113-7675113 3
14 COSM87902864 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 3
15 COSM112257156 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 3
16 COSM142564162 TP53 soft tissue,upper leg,sarcoma,NS c.524A>G p.H175R 17:7674890-7674890 3
17 COSM144655779 TP53 soft tissue,upper leg,sarcoma,NS c.524A>G p.H175R 17:7674890-7674890 3
18 COSM142840367 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 3
19 COSM122737959 TP53 soft tissue,upper leg,sarcoma,NS c.245A>G p.H82R 17:7674890-7674890 3
20 COSM144111084 TP53 soft tissue,upper leg,sarcoma,NS c.22C>T p.Q8* 17:7675113-7675113 3
21 COSM121881087 TP53 soft tissue,upper leg,sarcoma,NS c.245A>G p.H82R 17:7674890-7674890 3
22 COSM142860117 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 3
23 COSM144089819 TP53 soft tissue,upper leg,sarcoma,NS c.164A>G p.H55R 17:7674890-7674890 3
24 COSM144682712 TP53 soft tissue,upper leg,sarcoma,NS c.382C>T p.Q128* 17:7675113-7675113 3
25 COSM143159971 TP53 soft tissue,upper leg,sarcoma,NS c.164A>G p.H55R 17:7674890-7674890 3
26 COSM122275322 TP53 soft tissue,upper leg,sarcoma,NS c.245A>G p.H82R 17:7674890-7674890 3
27 COSM144041526 TP53 soft tissue,upper leg,sarcoma,NS c.466C>T p.Q156* 17:7675113-7675113 3
28 COSM142592590 TP53 soft tissue,upper leg,sarcoma,NS c.382C>T p.Q128* 17:7675113-7675113 3
29 COSM106084061 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 3
30 COSM112284809 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 3
31 COSM143401670 TP53 soft tissue,upper leg,sarcoma,NS c.382C>T p.Q128* 17:7675113-7675113 3
32 COSM122302302 TP53 soft tissue,upper leg,sarcoma,NS c.103C>T p.Q35* 17:7675113-7675113 3
33 COSM143947426 TP53 soft tissue,upper leg,sarcoma,NS c.164A>G p.H55R 17:7674890-7674890 3
34 COSM144017515 TP53 soft tissue,upper leg,sarcoma,NS c.608A>G p.H203R 17:7674890-7674890 3
35 COSM121910283 TP53 soft tissue,upper leg,sarcoma,NS c.103C>T p.Q35* 17:7675113-7675113 3
36 COSM111790424 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 3
37 COSM145045823 TP53 soft tissue,upper leg,sarcoma,NS c.382C>T p.Q128* 17:7675113-7675113 3
38 COSM87935416 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 3
39 COSM92479334 SH2B3 soft tissue,upper leg,sarcoma,NS c.232G>A p.E78K 12:111418377-111418377 3
40 COSM135372634 NUP93 soft tissue,upper leg,sarcoma,NS c.116C>T p.A39V 16:56748363-56748363 3
41 COSM88525472 NUP93 soft tissue,upper leg,sarcoma,NS c.116C>T p.A39V 16:56748363-56748363 3
42 COSM97107943 NRAS soft tissue,skin,sarcoma,NS c.38G>C p.G13A 1:114716123-114716123 3
43 COSM95516578 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
44 COSM95520543 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
45 COSM95523461 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
46 COSM95526780 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
47 COSM87494413 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 9:77815650-77815650 3
48 COSM98577250 ANKRD11 soft tissue,upper leg,sarcoma,NS c.2882G>T p.R961L 16:89283660-89283660 3
49 COSM87618826 ANKRD11 soft tissue,upper leg,sarcoma,NS c.2882G>T p.R961L 16:89283660-89283660 3
50 COSM147901996 ANKRD11 soft tissue,upper leg,sarcoma,NS c.2882G>T p.R961L 16:89283660-89283660 3

Expression for Werner Syndrome

Search GEO for disease gene expression data for Werner Syndrome.

Pathways for Werner Syndrome

Pathways related to Werner Syndrome according to GeneCards Suite gene sharing:

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 WRN RPA1 PARP1 NBN MRE11 EXO1
2
Show member pathways
13.37 WRN TERF2 RPA1 NBN MRE11 LMNA
3
Show member pathways
13.06 XRCC5 WRN RPA1 POLB PARP1 NBN
4
Show member pathways
12.9 WRN RPA1 NBN MRE11 EXO1 BLM
5
Show member pathways
12.75 WRN RPA1 POLB PARP1 FEN1
6
Show member pathways
12.61 WRN RPA1 NBN MRE11 EXO1 BLM
7
Show member pathways
12.61 XRCC5 POLB PARP1 NBN MRE11 LMNA
8
Show member pathways
12.46 WRN RPA1 PARP1 BLM
9
Show member pathways
12.44 TERF2 RPA1 NBN MRE11 LMNA BLM
10
Show member pathways
12.25 XRCC5 NBN MRE11 ATM
11
Show member pathways
12.23 TERF2 NBN MRE11 ATM
12
Show member pathways
12.21 WRN RPA1 NBN MRE11 EXO1 BLM
13
Show member pathways
11.98 WRN RPA1 NBN MRE11 EXO1 BLM
14 11.91 XRCC5 WRN TERF2 RPA1 RECQL5 RECQL4
15
Show member pathways
11.77 RPA1 FEN1 EXO1
16
Show member pathways
11.77 NBN MRE11 HELLS BLM ATM
17
Show member pathways
11.71 NBN MRE11 ATM
18 11.41 MRE11 BLM ATM
19 11.41 NBN MRE11 ATM
20 11.38 NBN BLM ATM
21 11.32 XRCC5 WRN TERF2 NBN MRE11 BLM
22 11.24 XRCC5 NBN MRE11 ATM
23
Show member pathways
11.17 XRCC5 TERF2 NBN MRE11
24 10.97 TERF2 ATM
25 10.93 XRCC5 WRN NBN MRE11 FEN1
26
Show member pathways
10.9 NBN MRE11 ATM

GO Terms for Werner Syndrome

Cellular components related to Werner Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.16 XRCC5 WRN TERF2 RPA1 RECQL5 RECQL
2 nucleus GO:0005634 10.13 XRCC5 WRN TERF2 RPA1 RECQL5 RECQL4
3 nucleolus GO:0005730 10.08 XRCC5 WRN PARP1 NBN FEN1 DHX9
4 protein-containing complex GO:0032991 9.99 XRCC5 POLB PARP1 FEN1 DHX9 BLM
5 nuclear body GO:0016604 9.89 TERF2 PARP1 LMNA EXO1 DHX9
6 PML body GO:0016605 9.76 RPA1 NBN MRE11 BLM
7 site of double-strand break GO:0035861 9.71 PARP1 NBN MRE11 LMNA
8 chromosome GO:0005694 9.65 XRCC5 WRN TERF2 RECQL5 RECQL4 RECQL
9 replication fork GO:0005657 9.62 WRN NBN MRE11 BLM
10 site of DNA damage GO:0090734 9.61 XRCC5 RPA1 PARP1
11 Mre11 complex GO:0030870 9.54 TERF2 NBN MRE11
12 nuclear telomere cap complex GO:0000783 9.52 XRCC5 TERF2
13 chromosome, telomeric region GO:0000781 9.36 XRCC5 WRN TERF2 RPA1 RECQL4 PARP1

Biological processes related to Werner Syndrome according to GeneCards Suite gene sharing:

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10.18 XRCC5 WRN RPA1 RECQL5 POLB PARP1
2 cell cycle GO:0007049 10.07 TERF2 RECQL5 NBN HELLS ATM
3 DNA duplex unwinding GO:0032508 10.02 XRCC5 WRN RECQL5 RECQL4 RECQL NBN
4 regulation of signal transduction by p53 class mediator GO:1901796 10 WRN RPA1 NBN MRE11 EXO1 BLM
5 DNA recombination GO:0006310 9.97 XRCC5 WRN RPA1 RECQL5 RECQL4 RECQL
6 telomere maintenance GO:0000723 9.96 XRCC5 WRN TERF2 RPA1 RECQL4 PARP1
7 double-strand break repair GO:0006302 9.95 XRCC5 WRN PARP1 NBN MRE11 FEN1
8 double-strand break repair via nonhomologous end joining GO:0006303 9.93 XRCC5 POLB NBN MRE11 ATM
9 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.92 WRN MRE11 FEN1 EXO1
10 meiotic cell cycle GO:0051321 9.91 RPA1 NBN MRE11 EXO1
11 DNA unwinding involved in DNA replication GO:0006268 9.91 WRN RPA1 RECQL5 RECQL4 RECQL BLM
12 double-strand break repair via homologous recombination GO:0000724 9.9 WRN RPA1 RECQL5 RECQL4 RECQL PARP1
13 base-excision repair GO:0006284 9.86 WRN RPA1 POLB FEN1
14 DNA double-strand break processing GO:0000729 9.83 NBN MRE11 BLM ATM
15 positive regulation of type I interferon production GO:0032481 9.82 XRCC5 MRE11 DHX9
16 t-circle formation GO:0090656 9.81 WRN NBN EXO1 BLM
17 telomeric D-loop disassembly GO:0061820 9.8 WRN TERF2 RECQL4 BLM
18 cellular response to gamma radiation GO:0071480 9.78 XRCC5 WRN ATM
19 mitotic G2 DNA damage checkpoint GO:0007095 9.77 NBN MRE11 BLM
20 regulation of telomere maintenance GO:0032204 9.77 XRCC5 TERF2 LMNA
21 positive regulation of telomere maintenance GO:0032206 9.76 TERF2 NBN MRE11
22 DNA strand renaturation GO:0000733 9.75 RECQL4 RECQL BLM
23 G-quadruplex DNA unwinding GO:0044806 9.74 WRN DHX9 BLM
24 DNA replication GO:0006260 9.73 WRN RPA1 RECQL5 RECQL4 POLB NBN
25 negative regulation of telomere capping GO:1904354 9.72 TERF2 NBN ATM
26 telomere maintenance via telomerase GO:0007004 9.68 RPA1 MRE11
27 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.68 RPA1 PARP1
28 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.68 RPA1 PARP1
29 replicative senescence GO:0090399 9.67 WRN ATM
30 isotype switching GO:0045190 9.67 NBN EXO1
31 somatic hypermutation of immunoglobulin genes GO:0016446 9.66 POLB EXO1
32 cellular metabolic process GO:0044237 9.66 WRN BLM
33 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.65 TERF2 PARP1
34 protein localization to chromosome, telomeric region GO:0070198 9.65 XRCC5 TERF2
35 cellular response to X-ray GO:0071481 9.65 XRCC5 ATM
36 regulation of telomere maintenance via telomerase GO:0032210 9.64 TERF2 ATM
37 cellular response to camptothecin GO:0072757 9.63 RECQL5 BLM
38 telomeric 3' overhang formation GO:0031860 9.63 NBN MRE11
39 negative regulation of t-circle formation GO:1904430 9.62 XRCC5 TERF2
40 DNA repair GO:0006281 9.47 XRCC5 WRN RPA1 RECQL5 RECQL4 RECQL

Molecular functions related to Werner Syndrome according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.62 XRCC5 WRN TERF2 TAGLN RPA1 RECQL5
2 nucleotide binding GO:0000166 10.23 XRCC5 WRN RECQL5 RECQL4 RECQL HELLS
3 ATP binding GO:0005524 10.18 XRCC5 WRN RECQL5 RECQL4 RECQL HELLS
4 hydrolase activity GO:0016787 10.17 XRCC5 WRN RECQL5 RECQL4 RECQL MRE11
5 DNA binding GO:0003677 10.17 XRCC5 WRN TERF2 RPA1 RECQL PURG
6 nucleic acid binding GO:0003676 10.14 WRN RPA1 RECQL5 RECQL4 RECQL DHX9
7 double-stranded DNA binding GO:0003690 9.89 XRCC5 MRE11 FEN1 DHX9
8 nuclease activity GO:0004518 9.88 WRN MRE11 FEN1 EXO1
9 helicase activity GO:0004386 9.86 XRCC5 WRN RECQL5 RECQL4 RECQL HELLS
10 single-stranded DNA binding GO:0003697 9.83 RPA1 DHX9 BLM
11 protein N-terminus binding GO:0047485 9.83 PARP1 NBN ATM
12 endonuclease activity GO:0004519 9.82 MRE11 FEN1 EXO1
13 exonuclease activity GO:0004527 9.8 WRN MRE11 FEN1 EXO1
14 manganese ion binding GO:0030145 9.79 WRN MRE11 FEN1
15 damaged DNA binding GO:0003684 9.77 XRCC5 RPA1 POLB NBN FEN1
16 5'-3' exonuclease activity GO:0008409 9.69 MRE11 FEN1 EXO1
17 3'-5' exonuclease activity GO:0008408 9.66 WRN MRE11
18 four-way junction DNA binding GO:0000400 9.65 WRN BLM
19 RNA-DNA hybrid ribonuclease activity GO:0004523 9.65 FEN1 EXO1
20 bubble DNA binding GO:0000405 9.65 WRN RECQL4 BLM
21 G-rich strand telomeric DNA binding GO:0098505 9.63 TERF2 RPA1
22 G-quadruplex DNA binding GO:0051880 9.63 WRN BLM
23 annealing helicase activity GO:0036310 9.63 RECQL4 RECQL BLM
24 5'-flap endonuclease activity GO:0017108 9.62 FEN1 EXO1
25 double-stranded telomeric DNA binding GO:0003691 9.62 XRCC5 TERF2
26 Y-form DNA binding GO:0000403 9.61 WRN BLM
27 telomeric D-loop binding GO:0061821 9.58 WRN RECQL4 BLM
28 8-hydroxy-2'-deoxyguanosine DNA binding GO:1905773 9.57 WRN BLM
29 telomeric G-quadruplex DNA binding GO:0061849 9.56 WRN BLM
30 forked DNA-dependent helicase activity GO:0061749 9.55 WRN BLM
31 four-way junction helicase activity GO:0009378 9.55 WRN RECQL5 RECQL4 RECQL BLM
32 flap endonuclease activity GO:0048256 9.54 FEN1 EXO1
33 3'-5' DNA helicase activity GO:0043138 9.43 WRN RECQL5 RECQL4 RECQL DHX9 BLM
34 DNA helicase activity GO:0003678 9.23 XRCC5 WRN RECQL5 RECQL4 RECQL MRE11

Sources for Werner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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