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WRN
MCID: WRN001
MIFTS: 69

Werner Syndrome (WRN)

Categories: Bone diseases, Cancer diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Werner Syndrome

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MalaCards integrated aliases for Werner Syndrome:

Name: Werner Syndrome 56 12 24 52 25 58 73 36 29 13 54 6 43 15 71
Werner's Syndrome 12 74 52 25
Adult Progeria 12 25 58
Wrn 56 52 73
Ws 12 25 58
Adult Premature Ageing Syndrome 12
Adult Premature Aging Syndrome 25
Werners Syndrome 25
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:

56
Inheritance:
autosomal recessive


HPO:

31
werner syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Eye diseases Skin diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Werner Syndrome

About this section
Genetics Home Reference : 25 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 atypical werner syndrome 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 Cell Cycle, Mitotic and DNA Double-Strand Break Repair. The drugs Atorvastatin and carnitine have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and bone, 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.

NIH Rare Diseases : 52 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 : 56 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)

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
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Related Diseases for Werner Syndrome

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

(show top 50) (show all 400)
# Related Disease Score Top Affiliating Genes
1 atypical werner syndrome 34.6 WRN LMNA
2 hutchinson-gilford progeria syndrome 32.8 XRCC5 WRN LMNA HELLS
3 bloom syndrome 32.0 WRN TERF2 RECQL5 RECQL4 RECQL HELLS
4 trichothiodystrophy 1, photosensitive 31.9 XRCC5 WRN RECQL4 FEN1
5 autosomal recessive cerebellar ataxia 31.7 XRCC5 WRN NBN MRE11
6 rapadilino syndrome 31.6 WRN RECQL5 RECQL4 RECQL HELLS FEN1
7 familial retinoblastoma 31.6 WRN RECQL4
8 li-fraumeni syndrome 31.5 WRN RECQL4 MRE11
9 seckel syndrome 31.4 XRCC5 WRN NBN MRE11 EXO1
10 progeroid syndrome 31.2 WRN LMNA
11 aging 31.0 WRN PARP1 LMNA
12 skin atrophy 30.7 WRN RECQL4 LMNA
13 cockayne syndrome 30.3 XRCC5 PARP1 HELLS FEN1
14 ataxia-telangiectasia 30.2 XRCC5 RPA1 PARP1 NBN MRE11 BLM
15 hereditary breast ovarian cancer syndrome 29.9 NBN MRE11 BLM
16 nijmegen breakage syndrome 29.6 XRCC5 WRN TERF2 RPA1 NBN MRE11
17 rothmund-thomson syndrome, type 2 29.5 WRN RECQL5 RECQL4 RECQL HELLS FEN1
18 baller-gerold syndrome 29.4 WRN RECQL5 RECQL4 RECQL FEN1 EXO1
19 xeroderma pigmentosum, variant type 29.0 XRCC5 WRN RPA1 RECQL4 RECQL PARP1
20 fanconi anemia, complementation group a 28.5 XRCC5 WRN RECQL5 RECQL4 RECQL PARP1
21 williams-beuren syndrome 12.4
22 waardenburg syndrome, type 2e 12.0
23 waardenburg's syndrome 12.0
24 colorectal cancer 11.8
25 waardenburg syndrome, type 3 11.6
26 waardenburg syndrome, type 4c 11.6
27 tibial hemimelia 11.6
28 soft tissue sarcoma 11.6
29 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 11.5
30 double uterus-hemivagina-renal agenesis 11.5
31 diabetes mellitus, noninsulin-dependent 11.5
32 aicardi-goutieres syndrome 11.5
33 waardenburg syndrome, type 2a 11.5
34 weaver syndrome 11.4
35 spondylosis 11.4
36 waardenburg syndrome, type 2b 11.3
37 waardenburg syndrome, type 2c 11.3
38 waardenburg syndrome, type 2d 11.3
39 waardenburg syndrome, type 4b 11.3
40 medulloblastoma 11.3
41 myocardial infarction 11.3
42 flynn-aird syndrome 11.2
43 waardenburg syndrome, type 4a 11.1
44 adermatoglyphia 11.0
45 schimke immunoosseous dysplasia 11.0
46 xeroderma pigmentosum, complementation group d 11.0
47 xeroderma pigmentosum, complementation group b 11.0
48 xfe progeroid syndrome 11.0
49 ruijs-aalfs syndrome 11.0
50 autosomal genetic disease 11.0

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



Diseases related to Werner Syndrome
Sources

Symptoms & Phenotypes for Werner Syndrome

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Human phenotypes related to Werner Syndrome:

58 31 (show top 50) (show all 66)
# 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 abnormality of the thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0000765
10 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
11 white forelock 58 31 hallmark (90%) Very frequent (99-80%) HP:0002211
12 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
13 pili torti 58 31 hallmark (90%) Very frequent (99-80%) HP:0003777
14 abnormal hair whorl 58 31 hallmark (90%) Very frequent (99-80%) HP:0010721
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 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0100585
20 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
21 congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001635
22 chondrocalcinosis 58 31 frequent (33%) Frequent (79-30%) HP:0000934
23 myocardial infarction 58 31 frequent (33%) Frequent (79-30%) HP:0001658
24 lack of skin elasticity 58 31 frequent (33%) Frequent (79-30%) HP:0100679
25 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
26 aplasia/hypoplasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008065
27 decreased fertility 58 31 frequent (33%) Frequent (79-30%) HP:0000144
28 increased bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0011001
29 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
30 pulmonary artery stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0004415
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 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
37 neoplasm of the lung 58 31 occasional (7.5%) Occasional (29-5%) HP:0100526
38 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
39 secondary amenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000869
40 sarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0100242
41 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
42 abnormality of the cerebral vasculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0100659
43 meningioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002858
44 gastrointestinal carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002672
45 breast carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0003002
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:

56
Growth Height:
short stature

Endocrine Features:
diabetes mellitus
hypogonadism

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

Skeletal:
osteoporosis

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

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.93 DHX9
2 Decreased viability GR00221-A-1 9.93 EXO1 XRCC5
3 Decreased viability GR00221-A-2 9.93 XRCC5
4 Decreased viability GR00221-A-4 9.93 EXO1
5 Decreased viability GR00240-S-1 9.93 LMNA
6 Decreased viability GR00249-S 9.93 LMNA RPA1 TAGLN
7 Decreased viability GR00301-A 9.93 RPA1
8 Decreased viability GR00381-A-1 9.93 TAGLN
9 Decreased viability GR00386-A-1 9.93 BLM FEN1 LMNA RPA1 TAGLN TERF2
10 Decreased viability GR00402-S-2 9.93 PURG RPA1
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.84 MRE11 NBN RPA1
12 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.84 BLM EXO1 MRE11 RPA1
13 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.84 BLM EXO1 FEN1 MRE11 NBN RPA1

MGI Mouse Phenotypes related to Werner Syndrome:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.44 BLM DHX9 EXO1 FEN1 HELLS LMNA
2 hematopoietic system MP:0005397 10.28 BLM DHX9 EXO1 FEN1 HELLS LMNA
3 immune system MP:0005387 10.22 BLM DHX9 EXO1 FEN1 HELLS LMNA
4 growth/size/body region MP:0005378 10.21 BLM FEN1 HELLS LMNA NBN PARP1
5 homeostasis/metabolism MP:0005376 10.18 EXO1 FEN1 HELLS LMNA MRE11 NBN
6 endocrine/exocrine gland MP:0005379 10.16 EXO1 FEN1 HELLS LMNA NBN POLB
7 embryo MP:0005380 10.13 BLM DHX9 FEN1 HELLS MRE11 NBN
8 digestive/alimentary MP:0005381 10.1 FEN1 LMNA POLB RECQL4 TAGLN WRN
9 mortality/aging MP:0010768 10.06 BLM DHX9 EXO1 FEN1 HELLS LMNA
10 integument MP:0010771 9.86 BLM HELLS LMNA PARP1 POLB RECQL4
11 neoplasm MP:0002006 9.65 BLM EXO1 FEN1 MRE11 NBN RECQL4
12 reproductive system MP:0005389 9.36 EXO1 FEN1 HELLS LMNA MRE11 NBN
Sources

Drugs & Therapeutics for Werner Syndrome

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 3 134523-00-5 60823
2 carnitine Phase 3
3 Hypolipidemic Agents Phase 3
4 Lipid Regulating Agents Phase 3
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
6 Anticholesteremic Agents Phase 3
7 Antimetabolites Phase 3
8 Hormone Antagonists
9 Insulin, Globin Zinc
10 Mitogens
11 insulin
12 Hormones
13 Cola

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Estudio clínico Fase III Para Evaluar la Eficacia terapéutica en Pacientes Mexicanos Con Dislipidemia Mediante el Uso vía Oral de L-Carnitina + Atorvastatina Comparado Con Atorvastatina Active, not recruiting NCT03696940 Phase 3 L-Carnitine 500Mg Oral Tablet + Atorvastatin 10 mg;Atorvastatin 10mg
2 Descriptive Study of Recombinant Human Insulin-Like Growth Factor for Osteoporosis in Werner's Syndrome Completed NCT00004815 growth hormone
3 Pathology of Helicases and Premature Aging: Study by Derivation of hiPS Completed NCT03898817
4 Correlative Science Studies in Colon Cancer a Companion Study to CALGB 9581 and 89803 Completed NCT00897429

Search NIH Clinical Center for Werner Syndrome

Cochrane evidence based reviews: werner syndrome

Sources

Genetic Tests for Werner Syndrome

About this section

Genetic tests related to Werner Syndrome:

# Genetic test Affiliating Genes
1 Werner Syndrome 29 WRN
Sources

Anatomical Context for Werner Syndrome

About this section

MalaCards organs/tissues related to Werner Syndrome:

40
Skin, Thyroid, Bone, Heart, Testes, Eye, Lung
Sources

Publications for Werner Syndrome

About this section

Articles related to Werner Syndrome:

(show top 50) (show all 1666)
# Title Authors PMID Year
1
Positional cloning of the Werner's syndrome gene. 6 56 24 61
8602509 1996
2
Homozygous and compound heterozygous mutations at the Werner syndrome locus. 6 56 54 61
8968742 1996
3
Werner syndrome: characterization of mutations in the WRN gene in an affected family. 61 6 56
9450180 1997
4
The Werner syndrome protein is a DNA helicase. 61 56 54 24
9288107 1997
5
Analysis of helicase gene mutations in Japanese Werner's syndrome patients. 61 56 6
9048918 1997
6
Linkage disequilibrium and haplotype studies of chromosome 8p 11.1-21.1 markers and Werner syndrome. 61 6 56
8037212 1994
7
The spectrum of WRN mutations in Werner syndrome patients. 61 24 6
16673358 2006
8
Unusual features of thyroid carcinomas in Japanese patients with Werner syndrome and possible genotype-phenotype relations to cell type and race. 24 56 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. 24 61 6
9225981 1997
10
Ophthalmological aspects in patients with Werner's syndrome. 61 56 24
2640084 1989
11
Cellular Werner phenotypes in mice expressing a putative dominant-negative human WRN gene. 6 61 54
10628995 2000
12
WRN mutations in Werner syndrome. 61 54 56
10220139 1999
13
The premature ageing syndrome protein, WRN, is a 3'-->5' exonuclease. 56 24
9771700 1998
14
Troglitazone ameliorates insulin resistance in patients with Werner's syndrome. 56 54 61
9253306 1997
15
Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group. 56 54 61
9012406 1997
16
Evidence against DNA polymerase beta as a candidate gene for Werner syndrome. 56 54 61
8168825 1994
17
Clinical utility gene card for: Werner syndrome. 6 61
22258520 2012
18
Structural basis for DNA strand separation by the unconventional winged-helix domain of RecQ helicase WRN. 61 54 24
20159463 2010
19
Telomere dysfunction as a cause of genomic instability in Werner syndrome. 56 61
17284601 2007
20
Werner syndrome and mutations of the WRN and LMNA genes in France. 61 54 24
16786514 2006
21
The enzymatic activities of the Werner syndrome protein are disabled by the amino acid polymorphism R834C. 61 54 24
15489508 2004
22
Normal telomere erosion rates at the single cell level in Werner syndrome fibroblast cells. 56 61
15150162 2004
23
Gene expression profiling in Werner syndrome closely resembles that of normal aging. 56 61
14527998 2003
24
Telomere instability in a human tumor cell line expressing a dominant-negative WRN protein. 6 61
12827497 2003
25
Werner Syndrome 6 61
20301687 2002
26
Mutations in the WRN gene in mice accelerate mortality in a p53-null background. 56 61
10757812 2000
27
Genetic instability and hematologic disease risk in Werner syndrome patients and heterozygotes. 61 56
10811130 2000
28
Telomerase prevents the accelerated cell ageing of Werner syndrome fibroblasts. 56 61
10615119 2000
29
Unusual features of thyroid carcinomas in Japanese patients with Werner syndrome and possible genotype-phenotype relations to cell type and race. 61 56
10440702 1999
30
The Werner syndrome protein is involved in RNA polymerase II transcription. 61 24 54
10436020 1999
31
Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines. 56 61
10480367 1999
32
An apoptosis-inducing genotoxin differentiates heterozygotic carriers for Werner helicase mutations from wild-type and homozygous mutants. 61 56
9402954 1997
33
Impaired nuclear localization of defective DNA helicases in Werner's syndrome. 61 56
9241267 1997
34
Down-regulation of the defective transcripts of the Werner's syndrome gene in the cells of patients. 61 24 54
9223443 1997
35
Cloning of a mouse homologue of the human Werner syndrome gene and assignment to 8A4 by fluorescence in situ hybridization. 56 61
9143515 1997
36
Excess of rare cancers in Werner syndrome (adult progeria). 56 61
8722214 1996
37
Genetic association between chromosome 8 microsatellite (MS8-134) and Werner syndrome (WRN): chromosome microdissection and homozygosity mapping. 61 56
7490095 1995
38
Homozygosity mapping of the Werner syndrome locus (WRN). 56 61
7851888 1994
39
Identification of mutations in DNA polymerase beta mRNAs from patients with Werner syndrome. 61 56
7545922 1994
40
The gene responsible for Werner syndrome may be a cell division "counting" gene. 61 56
8265666 1993
41
A genetic analysis of the Werner syndrome region on human chromosome 8p. 61 56
8325642 1993
42
Werner syndrome and biological ageing: a molecular genetic hypothesis. 56 61
8357345 1993
43
Nucleotide sequence analysis of human hypoxanthine phosphoribosyltransferase (HPRT) gene deletions. 56 61
1639404 1992
44
A patient with Werner's syndrome and osteosarcoma presenting as scleroderma. 56 61
1613716 1992
45
Homozygosity mapping and Werner's syndrome. 56 61
1348795 1992
46
Genetic linkage of Werner's syndrome to five markers on chromosome 8. 56 61
1741060 1992
47
Increased frequency of 6-thioguanine-resistant peripheral blood lymphocytes in Werner syndrome patients. 61 56
2303247 1990
48
Clonal structural chromosomal rearrangements in lymphocytes of four patients with Werner's syndrome. 56 61
2369072 1990
49
Mutator phenotype of Werner syndrome is characterized by extensive deletions. 61 56
2762303 1989
50
Spontaneous and induced chromosomal instability in Werner syndrome. 61 56
2459043 1988
Sources

Variations for Werner Syndrome

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ClinVar genetic disease variations for Werner Syndrome:

6 (show top 50) (show all 1046) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WRN NC_000008.11:g.(?_31150341)_(31157530_?)deldeletion Pathogenic 417322 8:31007857-31015046 8:31150341-31157530
2 WRN NM_000553.6(WRN):c.502_503del (p.Lys168fs)deletion Pathogenic 403979 rs776785728 8:30922574-30922575 8:31065058-31065059
3 WRN NM_000553.6(WRN):c.2665C>T (p.Arg889Ter)SNV Pathogenic 404045 rs774765029 8:30982072-30982072 8:31124556-31124556
4 WRN NM_000553.6(WRN):c.673C>T (p.Arg225Ter)SNV Pathogenic 404010 rs370324188 8:30925792-30925792 8:31068276-31068276
5 WRN NC_000008.11:g.(?_31059147)_(31059271_?)deldeletion Pathogenic 458372 8:30916663-30916787 8:31059147-31059271
6 WRN NM_000553.6(WRN):c.327T>A (p.Cys109Ter)SNV Pathogenic 458445 rs371538747 8:30921922-30921922 8:31064406-31064406
7 WRN NM_000553.6(WRN):c.2103_2104del (p.Leu702fs)deletion Pathogenic 458404 rs1383589957 8:30969144-30969145 8:31111628-31111629
8 WRN NM_000553.6(WRN):c.3033_3034AG[2] (p.Ser1013fs)short repeat Pathogenic 458440 rs759972548 8:30999011-30999012 8:31141495-31141496
9 WRN NM_000553.6(WRN):c.3408dup (p.Ala1137fs)duplication Pathogenic 458452 rs1284409960 8:31004588-31004589 8:31147072-31147073
10 WRN NM_000553.6(WRN):c.229dup (p.Asp77fs)duplication Pathogenic 458413 rs747587698 8:30921820-30921821 8:31064304-31064305
11 WRN NM_000553.6(WRN):c.2107dup (p.Thr703fs)duplication Pathogenic 458405 rs1554526707 8:30969148-30969149 8:31111632-31111633
12 WRN NM_000553.6(WRN):c.2332C>T (p.Gln778Ter)SNV Pathogenic 528157 rs1554527775 8:30973928-30973928 8:31116412-31116412
13 WRN NM_000553.6(WRN):c.2194C>T (p.Arg732Ter)SNV Pathogenic 528133 rs143916053 8:30969236-30969236 8:31111720-31111720
14 WRN NM_000553.6(WRN):c.509_510dup (p.Cys171fs)duplication Pathogenic 528158 rs1554519254 8:30924551-30924552 8:31067035-31067036
15 WRN NM_000553.6(WRN):c.522_523dup (p.Trp175fs)duplication Pathogenic 528095 rs1361270203 8:30924565-30924566 8:31067049-31067050
16 WRN NM_000553.6(WRN):c.2221C>T (p.Arg741Ter)SNV Pathogenic 528094 rs763089663 8:30969263-30969263 8:31111747-31111747
17 WRN NM_000553.6(WRN):c.88G>T (p.Glu30Ter)SNV Pathogenic 569323 rs1198210848 8:30916051-30916051 8:31058535-31058535
18 WRN NM_000553.6(WRN):c.2604G>A (p.Trp868Ter)SNV Pathogenic 528134 rs1554528411 8:30977914-30977914 8:31120398-31120398
19 WRN NM_000553.6(WRN):c.751_754AACA[1] (p.Lys252fs)short repeat Pathogenic 573403 rs1244318419 8:30933715-30933718 8:31076199-31076202
20 WRN NM_000553.6(WRN):c.3382dup (p.Ser1128fs)duplication Pathogenic 581978 rs778872619 8:31001131-31001132 8:31143615-31143616
21 WRN NM_000553.6(WRN):c.3682del (p.Val1228fs)deletion Pathogenic 581085 rs1563382597 8:31007966-31007966 8:31150450-31150450
22 WRN NM_000553.6(WRN):c.2994T>A (p.Tyr998Ter)SNV Pathogenic 582165 rs1563376347 8:30998972-30998972 8:31141456-31141456
23 WRN NM_000553.6(WRN):c.3102T>G (p.Tyr1034Ter)SNV Pathogenic 567775 rs1563376526 8:30999080-30999080 8:31141564-31141564
24 WRN NM_000553.6(WRN):c.525del (p.Thr174_Trp175insTer)deletion Pathogenic 579824 rs752830087 8:30924568-30924568 8:31067052-31067052
25 WRN NM_000553.6(WRN):c.3030_3033del (p.Thr1011fs)deletion Pathogenic 575023 rs748860208 8:30999006-30999009 8:31141490-31141493
26 WRN NM_000553.6(WRN):c.554T>G (p.Leu185Ter)SNV Pathogenic 577438 rs1563331288 8:30924598-30924598 8:31067082-31067082
27 WRN NM_000553.6(WRN):c.1744C>T (p.Gln582Ter)SNV Pathogenic 568746 rs757808169 8:30948373-30948373 8:31090857-31090857
28 WRN NM_000553.6(WRN):c.2170C>T (p.Gln724Ter)SNV Pathogenic 570679 rs1563357741 8:30969212-30969212 8:31111696-31111696
29 WRN NM_000553.6(WRN):c.3961C>T (p.Arg1321Ter)SNV Pathogenic 578242 rs1303126572 8:31015025-31015025 8:31157509-31157509
30 WRN NM_000553.6(WRN):c.1111G>T (p.Glu371Ter)SNV Pathogenic 580245 rs1563338837 8:30938654-30938654 8:31081138-31081138
31 WRN NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs)indel Pathogenic 566883 rs1563338855 8:30938657-30938658 8:31081141-31081142
32 WRN NM_000553.6(WRN):c.3382del (p.Ser1128fs)deletion Pathogenic 571933 rs778872619 8:31001132-31001132 8:31143616-31143616
33 WRN NM_000553.6(WRN):c.3711del (p.Lys1237fs)deletion Pathogenic 577673 rs1563385391 8:31012160-31012160 8:31154644-31154644
34 WRN NM_000553.6(WRN):c.859del (p.Asp287fs)deletion Pathogenic 641348 8:30938401-30938401 8:31080885-31080885
35 WRN NM_000553.6(WRN):c.980_983dup (p.Gln329fs)duplication Pathogenic 642354 8:30938522-30938523 8:31081006-31081007
36 WRN NM_000553.6(WRN):c.961G>T (p.Glu321Ter)SNV Pathogenic 641343 8:30938504-30938504 8:31080988-31080988
37 WRN NM_000553.6(WRN):c.171C>G (p.Tyr57Ter)SNV Pathogenic 653140 8:30916743-30916743 8:31059227-31059227
38 WRN NM_000553.6(WRN):c.1290_1293del (p.Asn430fs)deletion Pathogenic 664338 8:30941233-30941236 8:31083717-31083720
39 WRN NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer)deletion Pathogenic 640381 8:30947991-30947991 8:31090475-31090475
40 WRN NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter)SNV Pathogenic 656412 8:30954293-30954293 8:31096777-31096777
41 WRN NM_000553.6(WRN):c.2028G>A (p.Trp676Ter)SNV Pathogenic 657431 8:30958411-30958411 8:31100895-31100895
42 WRN NM_000553.6(WRN):c.2359_2361delinsTT (p.Asn788fs)indel Pathogenic 647126 8:30973955-30973957 8:31116439-31116441
43 WRN NM_000553.6(WRN):c.2503del (p.Gln835fs)deletion Pathogenic 651657 8:30977812-30977812 8:31120296-31120296
44 WRN NM_000553.6(WRN):c.2544T>A (p.Tyr848Ter)SNV Pathogenic 653972 8:30977854-30977854 8:31120338-31120338
45 WRN NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter)SNV Pathogenic 664656 8:30999020-30999020 8:31141504-31141504
46 WRN NM_000553.6(WRN):c.3394C>T (p.Gln1132Ter)SNV Pathogenic 663649 8:31004579-31004579 8:31147063-31147063
47 WRN NM_000553.6(WRN):c.3937C>T (p.Gln1313Ter)SNV Pathogenic 655857 8:31015001-31015001 8:31157485-31157485
48 WRN NM_000553.6(WRN):c.513_514CA[1] (p.Thr172fs)short repeat Pathogenic 644752 8:30924557-30924558 8:31067041-31067042
49 WRN NM_000553.6(WRN):c.2345del (p.Gly782fs)deletion Pathogenic 665278 8:30973940-30973940 8:31116424-31116424
50 WRN NM_000553.6(WRN):c.3383+1G>TSNV Pathogenic 644283 8:31001140-31001140 8:31143624-31143624

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

Expression for Werner Syndrome

About this section
Search GEO for disease gene expression data for Werner Syndrome.
Sources

Pathways for Werner Syndrome

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

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Cell Cycle, Mitotic 65
Show member pathways
 13.29 WRN TERF2 RPA1 NBN MRE11 LMNA
2
DNA Double-Strand Break Repair 65
Show member pathways
 12.96 XRCC5 WRN RPA1 POLB PARP1 NBN
3
Regulation of TP53 Activity 65
Show member pathways
 12.83 WRN RPA1 NBN MRE11 EXO1 BLM
4
Telomere C-strand (Lagging Strand) Synthesis 65
Show member pathways
 12.69 WRN RPA1 POLB PARP1 FEN1
5
Chks in Checkpoint Regulation 63
Show member pathways
 12.55 XRCC5 POLB PARP1 NBN MRE11 LMNA
6
Cell Cycle Checkpoints 65
Show member pathways
 12.5 WRN RPA1 NBN MRE11 EXO1 BLM
7
SUMOylation 65
Show member pathways
 12.41 WRN RPA1 PARP1 BLM
8
Meiosis 65
Show member pathways
 12.37 TERF2 RPA1 NBN MRE11 LMNA BLM
9
Homologous DNA Pairing and Strand Exchange 65
Show member pathways
 12.14 WRN RPA1 NBN MRE11 EXO1 BLM
10
Resolution of D-loop Structures through Holliday Junction Intermediates 65
Show member pathways
 11.97 WRN RPA1 NBN MRE11 EXO1 BLM
11
DNA Damage 4
11.87 XRCC5 WRN TERF2 RPA1 RECQL5 RECQL4
12
Mismatch repair 1 36 65
Show member pathways
 11.71 RPA1 FEN1 EXO1
13
BRCA1 Pathway 63
Show member pathways
 11.71 NBN MRE11 HELLS BLM
14
Regulation of Telomerase 1
11.25 XRCC5 WRN TERF2 NBN MRE11 BLM
15
BARD1 signaling events 1
11.16 XRCC5 NBN MRE11
16
Telomere Extension by Telomerase 63
Show member pathways
 11.13 XRCC5 TERF2 NBN MRE11
17
DNA damage_NHEJ mechanisms of DSBs repair 22
10.93 XRCC5 WRN NBN MRE11 FEN1
18
DDX1 as a regulatory component of the Drosha microprocessor 1
Show member pathways
 10.77 NBN MRE11
Sources

GO Terms for Werner Syndrome

About this section

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.23 XRCC5 WRNIP1 WRN TERF2 RPA1 RECQL5
2 nucleoplasm GO:0005654 10.2 XRCC5 WRN TERF2 RPA1 RECQL5 RECQL
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 9.88 TERF2 PARP1 LMNA EXO1 DHX9
6 PML body GO:0016605 9.76 RPA1 NBN MRE11 BLM
7 site of double-strand break GO:0035861 9.67 PARP1 NBN MRE11
8 replication fork GO:0005657 9.67 WRN NBN MRE11 BLM
9 chromosome GO:0005694 9.65 XRCC5 WRN TERF2 RECQL5 RECQL4 RECQL
10 chromosome, telomeric region GO:0000781 9.63 WRN TERF2 RECQL4 NBN MRE11 BLM
11 site of DNA damage GO:0090734 9.61 XRCC5 RPA1 PARP1
12 Mre11 complex GO:0030870 9.58 TERF2 NBN MRE11
13 nuclear telomere cap complex GO:0000783 9.52 XRCC5 TERF2
14 nuclear chromosome, telomeric region GO:0000784 9.23 XRCC5 WRNIP1 TERF2 RPA1 PARP1 NBN

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

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10.18 XRCC5 WRNIP1 WRN RPA1 RECQL5 POLB
2 DNA recombination GO:0006310 10.02 XRCC5 WRN RPA1 RECQL5 RECQL4 RECQL
3 regulation of signal transduction by p53 class mediator GO:1901796 9.99 WRN RPA1 NBN MRE11 EXO1 BLM
4 telomere maintenance GO:0000723 9.97 XRCC5 WRN TERF2 RPA1 RECQL4 PARP1
5 DNA duplex unwinding GO:0032508 9.96 XRCC5 WRNIP1 WRN RECQL5 RECQL4 RECQL
6 double-strand break repair GO:0006302 9.93 XRCC5 WRN PARP1 NBN MRE11 FEN1
7 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.91 WRN MRE11 FEN1 EXO1
8 DNA unwinding involved in DNA replication GO:0006268 9.91 WRN RPA1 RECQL5 RECQL4 RECQL BLM
9 meiotic cell cycle GO:0051321 9.89 RPA1 NBN MRE11 EXO1
10 double-strand break repair via nonhomologous end joining GO:0006303 9.86 XRCC5 POLB NBN MRE11
11 double-strand break repair via homologous recombination GO:0000724 9.85 WRN RPA1 RECQL5 RECQL4 RECQL PARP1
12 base-excision repair GO:0006284 9.83 WRN RPA1 POLB FEN1
13 positive regulation of type I interferon production GO:0032481 9.8 XRCC5 MRE11 DHX9
14 t-circle formation GO:0090656 9.8 WRN NBN EXO1 BLM
15 telomeric D-loop disassembly GO:0061820 9.78 WRN TERF2 RECQL4 BLM
16 DNA-dependent DNA replication GO:0006261 9.76 WRNIP1 RPA1 POLB
17 mitotic G2 DNA damage checkpoint GO:0007095 9.75 NBN MRE11 BLM
18 DNA double-strand break processing GO:0000729 9.74 NBN MRE11 BLM
19 DNA replication GO:0006260 9.73 WRNIP1 WRN RPA1 RECQL5 RECQL4 POLB
20 DNA strand renaturation GO:0000733 9.72 RECQL4 RECQL BLM
21 G-quadruplex DNA unwinding GO:0044806 9.71 WRN DHX9 BLM
22 telomere maintenance via semi-conservative replication GO:0032201 9.68 RPA1 FEN1
23 positive regulation of protein autophosphorylation GO:0031954 9.68 NBN MRE11
24 nucleotide-excision repair, DNA gap filling GO:0006297 9.68 RPA1 POLB
25 telomere maintenance via telomerase GO:0007004 9.68 RPA1 MRE11
26 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.67 RPA1 PARP1
27 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.67 RPA1 PARP1
28 isotype switching GO:0045190 9.67 NBN EXO1
29 somatic hypermutation of immunoglobulin genes GO:0016446 9.66 POLB EXO1
30 cellular metabolic process GO:0044237 9.66 WRN BLM
31 DNA synthesis involved in DNA repair GO:0000731 9.65 WRNIP1 WRN
32 regulation of telomere maintenance GO:0032204 9.65 XRCC5 TERF2
33 protein localization to chromosome, telomeric region GO:0070198 9.65 XRCC5 TERF2
34 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.64 TERF2 PARP1
35 positive regulation of telomere maintenance GO:0032206 9.64 NBN MRE11
36 regulation of DNA-dependent DNA replication initiation GO:0030174 9.63 WRNIP1 NBN
37 negative regulation of telomere capping GO:1904354 9.62 TERF2 NBN
38 cellular response to camptothecin GO:0072757 9.62 RECQL5 BLM
39 telomeric 3' overhang formation GO:0031860 9.61 NBN MRE11
40 negative regulation of t-circle formation GO:1904430 9.6 XRCC5 TERF2
41 DNA repair GO:0006281 9.47 XRCC5 WRNIP1 WRN RPA1 RECQL5 RECQL4

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 10.56 XRCC5 WRNIP1 WRN TERF2 TAGLN RPA1
2 nucleotide binding GO:0000166 10.24 XRCC5 WRNIP1 WRN RECQL5 RECQL4 RECQL
3 nucleic acid binding GO:0003676 10.19 WRN RPA1 RECQL5 RECQL4 RECQL DHX9
4 ATP binding GO:0005524 10.19 XRCC5 WRNIP1 WRN RECQL5 RECQL4 RECQL
5 DNA binding GO:0003677 10.17 XRCC5 WRNIP1 WRN TERF2 RPA1 RECQL
6 hydrolase activity GO:0016787 10.15 XRCC5 WRNIP1 WRN RECQL5 RECQL4 RECQL
7 ATPase activity GO:0016887 9.94 WRNIP1 WRN DHX9 BLM
8 nuclease activity GO:0004518 9.89 WRN MRE11 FEN1 EXO1
9 double-stranded DNA binding GO:0003690 9.89 XRCC5 PURG MRE11 FEN1 DHX9
10 helicase activity GO:0004386 9.86 XRCC5 WRN RECQL5 RECQL4 RECQL HELLS
11 single-stranded DNA binding GO:0003697 9.83 RPA1 DHX9 BLM
12 endonuclease activity GO:0004519 9.82 MRE11 FEN1 EXO1
13 exonuclease activity GO:0004527 9.81 WRN MRE11 FEN1 EXO1
14 damaged DNA binding GO:0003684 9.8 XRCC5 RPA1 POLB NBN FEN1
15 manganese ion binding GO:0030145 9.79 WRN MRE11 FEN1
16 5'-3' exonuclease activity GO:0008409 9.7 MRE11 FEN1 EXO1
17 3'-5' exonuclease activity GO:0008408 9.66 WRN MRE11
18 four-way junction DNA binding GO:0000400 9.66 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 telomeric D-loop binding GO:0061821 9.61 WRN RECQL4 BLM
27 Y-form DNA binding GO:0000403 9.6 WRN BLM
28 8-hydroxy-2'-deoxyguanosine DNA binding GO:1905773 9.58 WRN BLM
29 telomeric G-quadruplex DNA binding GO:0061849 9.57 WRN BLM
30 flap endonuclease activity GO:0048256 9.56 FEN1 EXO1
31 forked DNA-dependent helicase activity GO:0061749 9.55 WRN BLM
32 four-way junction helicase activity GO:0009378 9.55 WRN RECQL5 RECQL4 RECQL BLM
33 3'-5' DNA helicase activity GO:0043138 9.43 WRN RECQL5 RECQL4 RECQL DHX9 BLM
34 DNA helicase activity GO:0003678 9.28 XRCC5 WRN RECQL5 RECQL4 RECQL NBN
Sources

Sources for Werner Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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