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WRN
MCID: WRN001
MIFTS: 74

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

About this section

MalaCards integrated aliases for Werner Syndrome:

Name: Werner Syndrome 58 12 25 54 26 60 76 38 30 13 56 6 45 15 74
Werner's Syndrome 12 77 54 26
Adult Progeria 12 26 60
Wrn 58 54 76
Ws 12 26 60
Adult Premature Ageing Syndrome 12
Adult Premature Aging Syndrome 26
Werners Syndrome 26
Syndrome, Werner 41
Wes 77

Characteristics:

Orphanet epidemiological data:

60
werner syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Japan),1-9/100000; Age of onset: Adolescent,Adult;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
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: 35
Orphanet: 60  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Werner Syndrome

About this section
NIH Rare Diseases : 54 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.

MalaCards based summary : Werner Syndrome, also known as werner's syndrome, is related to atypical werner syndrome and spondylosis. An important gene associated with Werner Syndrome is WRN (Werner Syndrome RecQ Like Helicase), and among its related pathways/superpathways are Cell Cycle, Mitotic and Regulation of TP53 Activity. The drugs Naltrexone and Ethanol 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 An autosomal recessive disease 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. In 90% of the cases it is that has material basis in mutations in the WRN gene, on chromosome 8.

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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 : 77 The killdeer (Charadrius vociferus) is a large plover found in the Americas. It was described and given... more...

Description from OMIM: 277700
GeneReviews:
Sources

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 1890)
# Related Disease Score Top Affiliating Genes
1 atypical werner syndrome 34.1 LMNA WRN
2 spondylosis 32.2 HELLS WRN
3 adermatoglyphia 31.9 BLM WRN
4 acquired generalized lipodystrophy 31.5 LMNA RECQL5 WRN
5 baller-gerold syndrome 31.2 RECQL RECQL4 RECQL5 WRN
6 rapadilino syndrome 31.2 HELLS RECQL RECQL4 RECQL5 WRN
7 aging 31.0 LMNA PARP1 WRN
8 xeroderma pigmentosum, variant type 29.6 FEN1 HELLS RECQL RPA1
9 rothmund-thomson syndrome 29.2 BLM HELLS RECQL RECQL4 RECQL5 WRN
10 bloom syndrome 29.1 BLM FEN1 HELLS RECQL RECQL4 RECQL5
11 fanconi anemia, complementation group a 28.5 BLM FEN1 HELLS LMNA MRE11 PARP1
12 williams-beuren syndrome 12.2
13 waardenburg syndrome, type 2e 11.8
14 colorectal cancer 11.6
15 disease of mental health 11.6
16 waardenburg's syndrome 11.6
17 aicardi-goutieres syndrome 11.5
18 waardenburg syndrome, type 3 11.5
19 depression 11.4
20 hutchinson-gilford progeria syndrome 11.4
21 obsessive-compulsive disorder 11.4
22 jejunal cancer 11.4
23 apnea, obstructive sleep 11.3
24 phenylketonuria 11.3
25 wernicke encephalopathy 11.3
26 nijmegen breakage syndrome 11.2
27 tibia, hypoplasia or aplasia of, with polydactyly 11.2
28 mthfr gene variant 11.2
29 tibial hemimelia 11.2
30 waardenburg syndrome, type 2b 11.1
31 waardenburg syndrome, type 2c 11.1
32 waardenburg syndrome, type 2d 11.1
33 waardenburg syndrome, type 4b 11.1
34 waardenburg syndrome, type 4c 11.1
35 bosma arhinia microphthalmia syndrome 11.1
36 adverse events of 5-alpha-reductase inhibitors 11.1
37 flynn-aird syndrome 11.1
38 soft tissue sarcoma 11.1
39 myocardial infarction 11.1
40 xfe progeroid syndrome 11.1
41 fanconi anemia, complementation group r 11.1
42 autosomal genetic disease 11.1
43 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 11.1
44 waardenburg syndrome, type 2a 11.0
45 waardenburg syndrome, type 4a 11.0
46 glutaric acidemia i 11.0
47 charcot-marie-tooth disease, axonal, type 2p 11.0
48 color blindness 11.0
49 methylmalonyl-coenzyme a mutase deficiency 11.0
50 morgellons 11.0

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



Diseases related to Werner Syndrome
Sources

Symptoms & Phenotypes for Werner Syndrome

About this section

Human phenotypes related to Werner Syndrome:

60 33 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 60 33 hallmark (90%) Very frequent (99-80%) HP:0000518
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
4 lipoatrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100578
5 abnormality of the thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0000765
6 hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000135
7 premature graying of hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002216
8 slender build 60 33 hallmark (90%) Very frequent (99-80%) HP:0001533
9 abnormality of the voice 60 33 hallmark (90%) Very frequent (99-80%) HP:0001608
10 sparse scalp hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002209
11 convex nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000444
12 white forelock 60 33 hallmark (90%) Very frequent (99-80%) HP:0002211
13 pili torti 60 33 hallmark (90%) Very frequent (99-80%) HP:0003777
14 abnormal hair whorl 60 33 hallmark (90%) Very frequent (99-80%) HP:0010721
15 type ii diabetes mellitus 60 33 frequent (33%) Frequent (79-30%) HP:0005978
16 abnormality of retinal pigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007703
17 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202
18 myocardial infarction 60 33 frequent (33%) Frequent (79-30%) HP:0001658
19 hyperkeratosis 60 33 frequent (33%) Frequent (79-30%) HP:0000962
20 congestive heart failure 60 33 frequent (33%) Frequent (79-30%) HP:0001635
21 lack of skin elasticity 60 33 frequent (33%) Frequent (79-30%) HP:0100679
22 skin ulcer 60 33 frequent (33%) Frequent (79-30%) HP:0200042
23 small hand 60 33 frequent (33%) Frequent (79-30%) HP:0200055
24 telangiectasia of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0100585
25 narrow face 60 33 frequent (33%) Frequent (79-30%) HP:0000275
26 aplasia/hypoplasia of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0008065
27 decreased fertility 60 33 frequent (33%) Frequent (79-30%) HP:0000144
28 increased bone mineral density 60 33 frequent (33%) Frequent (79-30%) HP:0011001
29 pulmonary artery stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0004415
30 chondrocalcinosis 60 33 frequent (33%) Frequent (79-30%) HP:0000934
31 atherosclerosis 60 33 frequent (33%) Frequent (79-30%) HP:0002621
32 rocker bottom foot 60 33 frequent (33%) Frequent (79-30%) HP:0001838
33 insulin resistance 60 33 frequent (33%) Frequent (79-30%) HP:0000855
34 subcutaneous calcification 60 33 frequent (33%) Frequent (79-30%) HP:0007618
35 aplasia/hypoplasia of the testes 60 33 frequent (33%) Frequent (79-30%) HP:0010468
36 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
37 joint stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001387
38 laryngomalacia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001601
39 secondary amenorrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000869
40 abnormality of the cerebral vasculature 60 33 occasional (7.5%) Occasional (29-5%) HP:0100659
41 sarcoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0100242
42 breast carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0003002
43 ovarian neoplasm 60 33 occasional (7.5%) Occasional (29-5%) HP:0100615
44 meningioma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002858
45 gastrointestinal carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002672
46 neoplasm of the lung 60 33 occasional (7.5%) Occasional (29-5%) HP:0100526
47 neoplasm of the small intestine 60 33 occasional (7.5%) Occasional (29-5%) HP:0100833
48 spontaneous abortion 60 33 occasional (7.5%) Occasional (29-5%) HP:0005268
49 squamous cell carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002860
50 thyroid carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002890

Symptoms via clinical synopsis from OMIM:

58
Endocrine Features:
diabetes mellitus
hypogonadism

Skeletal:
osteoporosis

Head And Neck Eyes:
retinal degeneration
cataracts

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

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

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.36 BLM EXO1 FEN1 MRE11 PARP1 RECQL

MGI Mouse Phenotypes related to Werner Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.38 BLM DHX9 EXO1 FEN1 HELLS LMNA
2 hematopoietic system MP:0005397 10.17 BLM DHX9 EXO1 FEN1 HELLS LMNA
3 immune system MP:0005387 10.1 BLM DHX9 EXO1 FEN1 HELLS LMNA
4 growth/size/body region MP:0005378 10.07 BLM FEN1 HELLS LMNA PARP1 POLB
5 embryo MP:0005380 10.03 BLM DHX9 FEN1 HELLS MRE11 PARP1
6 endocrine/exocrine gland MP:0005379 10.01 EXO1 FEN1 HELLS LMNA POLB RECQL4
7 digestive/alimentary MP:0005381 9.93 FEN1 LMNA POLB RECQL4 WRN XRCC5
8 mortality/aging MP:0010768 9.8 BLM DHX9 EXO1 FEN1 HELLS LMNA
9 integument MP:0010771 9.76 BLM HELLS LMNA PARP1 POLB RECQL4
10 neoplasm MP:0002006 9.23 BLM EXO1 FEN1 MRE11 RECQL4 RPA1
Sources

Drugs & Therapeutics for Werner Syndrome

About this section

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

(show top 50) (show all 445)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
2
Ethanol Approved Phase 4,Not Applicable 64-17-5 702
3
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
4
Levobupivacaine Approved, Investigational Phase 4,Not Applicable 27262-47-1 92253
5
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7, 161973-10-0 9568614 4594
6
Pantoprazole Approved Phase 4 102625-70-7 4679
7
Dopamine Approved Phase 4,Phase 3,Phase 2 62-31-7, 51-61-6 681
8
Zoledronic Acid Approved Phase 4 118072-93-8 68740
9
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
10
Apixaban Approved Phase 4,Phase 3 503612-47-3 10182969
11
Phylloquinone Approved, Investigational Phase 4 84-80-0
12
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
13
Warfarin Approved Phase 4 81-81-2 6691 54678486
14
Acetaminophen Approved Phase 4,Phase 1 103-90-2 1983
15
Morphine Approved, Investigational Phase 4,Not Applicable 57-27-2 5288826
16
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
17
Verapamil Approved Phase 4 52-53-9 2520
18
Serine Approved, Nutraceutical Phase 4,Phase 3 56-45-1 5951
19
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
20
Calcium Approved, Nutraceutical Phase 4,Phase 3,Not Applicable 7440-70-2 271
21
Dabigatran Investigational Phase 4 211914-51-1
22 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Narcotics Phase 4,Phase 2,Phase 1,Not Applicable
24 Narcotic Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
25 diuretics Phase 4
26 Sodium Potassium Chloride Symporter Inhibitors Phase 4
27 Natriuretic Agents Phase 4
28 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
29 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
30 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Nutrients Phase 4,Not Applicable
32 Vitamins Phase 4,Not Applicable
33 Trace Elements Phase 4,Phase 3,Not Applicable
34 Micronutrients Phase 4,Phase 3,Not Applicable
35 Analgesics, Opioid Phase 4,Phase 2,Phase 1,Not Applicable
36 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Anti-Ulcer Agents Phase 4
38 Antacids Phase 4
39 Proton Pump Inhibitors Phase 4,Not Applicable
40 Autonomic Agents Phase 4,Phase 3,Phase 2
41 Sympathomimetics Phase 4
42 Dopamine Agents Phase 4,Phase 3,Phase 2
43 Cardiotonic Agents Phase 4
44 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
45 Anesthetics, Local Phase 4,Phase 3,Phase 1
46 Anesthetics Phase 4,Phase 3,Phase 1,Not Applicable
47 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
48 Bone Density Conservation Agents Phase 4,Phase 3
49 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
50 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 306)
# Name Status NCT ID Phase Drugs
1 Low Dose Naltrexone for Treatment of Pain in Patients With Fibromyalgia - Effect Via a Central Mechanism? Unknown status NCT02806440 Phase 4 Low dose naltrexone;Placebo
2 Investigation of Gender Specificity of the Effects of Furosemide in Healthy Female and Male Volunteers Unknown status NCT01156220 Phase 4 Furosemide;aminohippurate sodium
3 Balloon Angioplasty Versus Xpert Stent in CLI Patients XXS Study Unknown status NCT00546845 Phase 4
4 Radiofrequency Ablation for Malignant Biliary Obstruction Completed NCT01758341 Phase 4
5 Study to Assess Management Strategies for the Use of Esomeprazole (Nexium) in Helicobacter Pylori Infected Patients Completed NCT00574925 Phase 4 Esomeprazole
6 Comparison of the Classical Healing Concept With the Complete Remission Concept After Treatment With Pantoprazole in Adult Patients With Erosive GERD (Gastroesophageal Reflux Disease) (BY1023/M3-342) Completed NCT00325676 Phase 4 Pantoprazole
7 Donor Dopamine and Initial Graft Function Completed NCT00115115 Phase 4 Dopamine infusion to brain dead organ donors
8 Pain Reduction After Cholecystectomy Completed NCT01199406 Phase 4 Levobupivacaine
9 Pacing of the Atria in Sick Sinus Syndrome Trial Preventive Strategies for Atrial Fibrillation Completed NCT00161538 Phase 4
10 Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis Completed NCT00035997 Phase 4 Zometa
11 Study to Compare the Efficacy of Tocilizumab With or Without Glucocorticoid Discontinuation in Rheumatoid Arthritis Participants Completed NCT02573012 Phase 4 Placebo matched to prednisone;Prednisone
12 Study Of The Blood Thinner, Apixaban, For Patients Who Have An Abnormal Heart Rhythm (Atrial Fibrillation) And Expected To Have Treatment To Put Them Back Into A Normal Heart Rhythm (Cardioversion) Completed NCT02100228 Phase 4 Apixaban;Parenteral heparin and/or oral Vitamin K antagonist
13 Biomarker Guided Treatment in Gynaecological Cancer Recruiting NCT02543710 Phase 4 Biomarker guided weekly taxane treatment in endometrial/ ovarian cancer
14 TQL-block for Laparoscopic Hemicolectomy Recruiting NCT03570541 Phase 4 Ropivacaine;Acetaminophen;Morphine;Saline
15 Prevention of Silent Cerebral Thromboembolism by Oral Anticoagulation With Dabigatran After Pulmonary Vein Isolation for Atrial Fibrillation Recruiting NCT02067182 Phase 4 Dabigatran
16 Short-term Stenting Versus Balloon Dilatation for Dominant Strictures in Primary Sclerosing Cholangitis Unknown status NCT01398917 Phase 3
17 Multi Centre Trial of DSMM for Newly Diagnosed Multiple Myeloma up to 60 Years Unknown status NCT00546988 Phase 3
18 F18PET/CT Versus TC-MDP Scanning to Detect Bone Mets Unknown status NCT00882609 Phase 3
19 Comparing Desflurane to Sevoflurane for the Effect on Recovery Time in Patients Undergoing Urological Cystoscope Surgery Completed NCT01219881 Phase 3 Desflurane;Sevoflurane
20 Bladder Scan of Residual Urine With New Catheter Completed NCT01048541 Phase 2, Phase 3
21 Trigger-point Blockade in Persistent Pain After Laparoscopical Groin Hernia Repair Completed NCT02065804 Phase 3 Bupivacaine
22 Trigger-point Blockade in Persistent Pain After Open Groin Hernia Repair Completed NCT02065219 Phase 3 Bupivacaine;Placebo
23 Bosentan for Mild Pulmonary Vascular Disease in Asd Patients. Completed NCT01218607 Phase 3 Bosentan;Placebo
24 Comparing Two Forms of Head Immobilization for Stereotactic Radiotherapy Completed NCT00328510 Phase 3
25 Efficacy and Safety Trial of Transcranial Laser Therapy Within 24 Hours From Stroke Onset (NEST-3) Completed NCT01120301 Phase 3
26 Gemcitabine With or Without Capecitabine in Treating Patients With Advanced Pancreatic Cancer Completed NCT00030732 Phase 3 Gemcitabine + Capecitabine;Gemcitabine alone
27 Venticute in Patients With Pneumonia or Aspiration of Gastric Contents and Intubation/Ventilation/Oxygenation Impairment (BY2001/M1-007) Completed NCT00074906 Phase 3 Venticute
28 Study About Efficacy and Safety to Treat Multi-System-Atrophy Completed NCT00146809 Phase 3 Minocyline
29 Open-label, Follow-up Study of Oral Testosterone Undecanoate in Hypogonadal Men Completed NCT01699178 Phase 3 Oral testosterone undecanoate;Transdermal testosterone gel (AndroGel)
30 Efficacy, Safety, Tolerability of Neramexane in Patients With Subjective Tinnitus Completed NCT00955799 Phase 3 Neramexane mesylate;Placebo
31 Efficacy, Safety and Tolerability of Neramexane in Patients With Subjective Tinnitus Completed NCT00739635 Phase 3 Neramexane mesylate;Placebo
32 Safety and Efficacy Trial of Oral Testosterone Undecanoate (TU) in Hypogonadal Men Completed NCT01403116 Phase 3 Oral testosterone undecanoate;topical testosterone gel
33 Monoclonal Antibody Therapy (Rencarex®) in Treating Patients Who Have Undergone Surgery for Non-metastatic Kidney Cancer Completed NCT00087022 Phase 3
34 Study of AA4500 in the Treatment of Peyronie's Disease Completed NCT01221623 Phase 3
35 Telemedical Interventional Management in Heart Failure II Completed NCT01878630 Phase 3
36 Prostate Cancer Prevention Study for Men With High Grade PIN (Prostatic Intraepithelial Neoplasia) Completed NCT00106691 Phase 3 Toremifene 20 mg;Placebo
37 Study of Atrasentan in Men With Non-Metastatic, Hormone-Refractory Prostate Cancer Completed NCT00036556 Phase 3 Atrasentan
38 Study to Investigate Efficacy and Safety of a New Oral Contraceptive Completed NCT00185289 Phase 3 EV/DNG (Qlaira, BAY86-5027, SH T00658K)
39 Efficacy and Long-Term Safety of Vildagliptin as Add-on Therapy to Metformin in Patients With Type 2 Diabetes Completed NCT00860288 Phase 2, Phase 3 Vildagliptin;Metformin;Placebo;Sitagliptin
40 Comparison of Insulin Alone to Insulin With Metformin to Treat Gestational Diabetes Mellitus Recruiting NCT03651531 Phase 3 Insulin;Metformin
41 Superiority of Newly Developed Over Basic Echinacea Formulations for the Treatment of Respiratory Tract Infections Recruiting NCT03812900 Phase 2, Phase 3 Echinacea purpurea alcoholic extract
42 Danish Cardiogenic Shock Trial Recruiting NCT01633502 Phase 3
43 BAMI. The Effect of Intracoronary Reinfusion of Bone Marrow-derived Mononuclear Cells(BM-MNC) on All Cause Mortality in Acute Myocardial Infarction Recruiting NCT01569178 Phase 3
44 Diet and Physical Activity Change or Usual Care in Improving Progression-Free Survival in Patients With Previously Treated Stage II, III, or IV Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Recruiting NCT00719303 Phase 3
45 Radiation Therapy Regimens in Treating Patients With Limited-Stage Small Cell Lung Cancer Receiving Cisplatin and Etoposide Recruiting NCT00632853 Phase 3 cisplatin;etoposide;carboplatin
46 EMPagliflozin outcomE tRial in Patients With chrOnic heaRt Failure With Reduced Ejection Fraction (EMPEROR-Reduced) Recruiting NCT03057977 Phase 3 Empagliflozin;Placebo
47 EMPagliflozin outcomE tRial in Patients With chrOnic heaRt Failure With Preserved Ejection Fraction (EMPEROR-Preserved) Recruiting NCT03057951 Phase 3 Empagliflozin;Placebo
48 Double Blind Placebo Controlled Controlled Study of Adjuvant MEDI4736 In Completely Resected NSCLC Recruiting NCT02273375 Phase 3 MEDI4736;Placebo
49 Role of PRoactivE Coaching on PAtient REported Outcome in Advanced or Metastatic RCC Treated With Sunitinib Recruiting NCT03013946 Phase 3
50 Apixaban for Treatment of Embolic Stroke of Undetermined Source Recruiting NCT02427126 Phase 3 Apixaban;Aspirin

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 30 WRN
Sources

Anatomical Context for Werner Syndrome

About this section

MalaCards organs/tissues related to Werner Syndrome:

42
Skin, Thyroid, Bone, Testes, Heart, Kidney, Brain
Sources

Publications for Werner Syndrome

About this section

Articles related to Werner Syndrome:

(show top 50) (show all 758)
# Title Authors Year
1
Werner's Syndrome: Understanding the Phenotype of Premature Aging-First Case Described in Colombia. ( 30891318 )
2019
2
Studying Werner syndrome to elucidate mechanisms and therapeutics of human aging and age-related diseases. ( 30666569 )
2019
3
A high-throughput screen to identify novel small molecule inhibitors of the Werner Syndrome Helicase-Nuclease (WRN). ( 30625228 )
2019
4
ATM pathway activation limits R-loop-associated genomic instability in Werner syndrome cells. ( 30657978 )
2019
5
Werner Syndrome Helicase Is Required for the Survival of Cancer Cells with Microsatellite Instability. ( 30898619 )
2019
6
Werner syndrome helicase is a selective vulnerability of microsatellite instability-high tumor cells. ( 30910006 )
2019
7
Werner syndrome: a rare mutation. ( 29876830 )
2018
8
Werner syndrome: a rare cause of osteoporosis in a young female. ( 29878212 )
2018
9
Reduction of Werner Syndrome Protein Enhances G:C a89 A:T Transition by O<sup>6</sup>-Methylguanine in Human Cells. ( 29616805 )
2018
10
Primary Bullous Keratopathy in a Patient With Werner Syndrome Treated With Corneal Transplant. ( 29534662 )
2018
11
Vitamin C alters the amount of specific endoplasmic reticulum associated proteins involved in lipid metabolism in the liver of mice synthesizing a nonfunctional Werner syndrome (Wrn) mutant protein. ( 29494634 )
2018
12
Folate modulates guanine-quadruplex frequency and DNA damage in Werner syndrome. ( 29412869 )
2018
13
A novel WRN mutation identified in a patient with Werner syndrome and acute generalized exanthematous pustulosis. ( 29952303 )
2018
14
Nonfunctional mutant Wrn protein leads to neurological deficits, neuronal stress, microglial alteration, and immune imbalance in a mouse model of Werner syndrome. ( 29908963 )
2018
15
The ophthalmic diagnosis and management of four siblings with Werner syndrome. ( 29705892 )
2018
16
Differential stem cell aging kinetics in Hutchinson-Gilford progeria syndrome and Werner syndrome. ( 29476423 )
2018
17
Werner syndrome (WRN) gene variants and their association with altered function and age-associated diseases. ( 29146545 )
2018
18
Progeria (Werner Syndrome) ( 29939574 )
2018
19
Aging-associated latent herpes viral infection in normal Japanese individuals and patients with Werner syndrome. ( 30560014 )
2018
20
Werner syndrome: quantitative assessment of skin aging. ( 30122969 )
2018
21
Cerebral Haemorrhage in a Young Patient With Atypical Werner Syndrome Due to Mutations in LMNA. ( 30123186 )
2018
22
Management of cataract in Werner syndrome. ( 30127165 )
2018
23
Successful Cord Blood Transplantation in a Werner Syndrome Patient with High-risk Myelodysplastic Syndrome. ( 30146558 )
2018
24
A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome. ( 30023403 )
2018
25
Biallelic WRN Mutations in Newly Identified Japanese Werner Syndrome Patients. ( 30140198 )
2018
26
Ectopic hTERT expression facilitates reprograming of fibroblasts derived from patients with Werner syndrome as a WS cellular model. ( 30206203 )
2018
27
Werner Syndrome Protein and DNA Replication. ( 30400178 )
2018
28
Werner syndrome (WRN) DNA helicase and base excision repair (BER) factors maintain endothelial homeostasis. ( 30413344 )
2018
29
Characteristic Clinical Features of Werner Syndrome with a Novel Compound Heterozygous WRN Mutation c.1720+1G>A Plus c.3139-1G>C. ( 30568144 )
2018
30
A case report of Werner's syndrome with bilateral juvenile cataracts. ( 30107835 )
2018
31
Accelerated epigenetic aging in Werner syndrome. ( 28377537 )
2017
32
Werner Syndrome and Diabetes Mellitus Accompanied by Adrenal Cortex Cancer. ( 28768969 )
2017
33
Cognitive deficit in hippocampal-dependent tasks in Werner syndrome mouse model. ( 28119126 )
2017
34
The Relationship between Werner Syndrome and Sinonasal Malignant Melanoma: Two Sibling Cases of Werner Syndrome with Malignant Melanoma. ( 28717528 )
2017
35
Scratching the Surface of Werner Syndrome and Human Ageing. ( 29456476 )
2017
36
Transcatheter aortic valve replacement in a patient with Werner syndrome. ( 28631398 )
2017
37
Werner syndrome: a model for sarcopenia due to accelerated aging. ( 28738022 )
2017
38
Do you know this syndrome? Werner syndrome. ( 28538897 )
2017
39
Recent Advances in Understanding Werner Syndrome. ( 29043077 )
2017
40
Residues in the RecQ C-terminal Domain of the Human Werner Syndrome Helicase are Involved in Unwinding G-quadruplex DNA. ( 28069813 )
2017
41
A novel splice-site mutation of WRN (c.IVS28+2T&amp;gt;C) identified in a consanguineous family with Werner Syndrome. ( 28440507 )
2017
42
Uncommon cause of cirrhosis-A case of Werner syndrome with a novel WRN mutation. ( 28795391 )
2017
43
Nailfold scleroderma-like capillary abnormalities in Werner syndrome (adult progeria). ( 28466674 )
2017
44
Genome-wide DNA methylation analysis in blood cells from patients with Werner syndrome. ( 28861129 )
2017
45
Case of Werner syndrome complicated by adrenal insufficiency due to hypothalamic dysfunction. ( 28240455 )
2017
46
The Werner Syndrome Helicase Coordinates Sequential Strand Displacement and FEN1-Mediated Flap Cleavage during Polymerase I' Elongation. ( 27849570 )
2017
47
Femoral osteoporosis is more common than lumbar osteoporosis in patients with Werner syndrome. ( 28508498 )
2017
48
Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype. ( 28276523 )
2017
49
Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome. ( 28394436 )
2017
50
Werner syndrome through the lens of tissue and tumour genomics. ( 27559010 )
2016
Sources

Variations for Werner Syndrome

About this section

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

76
# Symbol AA change Variation ID SNP ID
1 WRN p.Lys125Asn VAR_026588 rs387906337
2 WRN p.Lys135Glu VAR_026589 rs267607008

ClinVar genetic disease variations for Werner Syndrome:

6 (show top 50) (show all 1357)
# Gene Variation Type Significance SNP ID Assembly Location
1 WRN NM_000553.4(WRN): c.1530_1532delAGA (p.Glu510del) deletion Uncertain significance rs781777438 GRCh37 Chromosome 8, 30945390: 30945392
2 WRN NM_000553.4(WRN): c.1530_1532delAGA (p.Glu510del) deletion Uncertain significance rs781777438 GRCh38 Chromosome 8, 31087874: 31087876
3 WRN NM_000553.4(WRN): c.2521G> A (p.Ala841Thr) single nucleotide variant Uncertain significance rs748169173 GRCh37 Chromosome 8, 30977831: 30977831
4 WRN NM_000553.4(WRN): c.2521G> A (p.Ala841Thr) single nucleotide variant Uncertain significance rs748169173 GRCh38 Chromosome 8, 31120315: 31120315
5 WRN NM_000553.5(WRN): c.3091G> C (p.Val1031Leu) single nucleotide variant Uncertain significance rs138492730 GRCh37 Chromosome 8, 30999069: 30999069
6 WRN NM_000553.5(WRN): c.3091G> C (p.Val1031Leu) single nucleotide variant Uncertain significance rs138492730 GRCh38 Chromosome 8, 31141553: 31141553
7 WRN NM_000553.5(WRN): c.3627T> A (p.Ala1209=) single nucleotide variant Likely benign rs780963410 GRCh37 Chromosome 8, 31007911: 31007911
8 WRN NM_000553.5(WRN): c.3627T> A (p.Ala1209=) single nucleotide variant Likely benign rs780963410 GRCh38 Chromosome 8, 31150395: 31150395
9 WRN NM_000553.5(WRN): c.487_488delGA (p.Asp163Cysfs) deletion Likely pathogenic rs797045118 GRCh37 Chromosome 8, 30922562: 30922563
10 WRN NM_000553.5(WRN): c.487_488delGA (p.Asp163Cysfs) deletion Likely pathogenic rs797045118 GRCh38 Chromosome 8, 31065046: 31065047
11 WRN NM_000553.5(WRN): c.3913C> T (p.Arg1305Ter) single nucleotide variant Pathogenic rs121908446 GRCh37 Chromosome 8, 31014977: 31014977
12 WRN NM_000553.5(WRN): c.3913C> T (p.Arg1305Ter) single nucleotide variant Pathogenic rs121908446 GRCh38 Chromosome 8, 31157461: 31157461
13 WRN NM_000553.4(WRN): c.3493C> T (p.Gln1165Ter) single nucleotide variant Pathogenic rs121908447 GRCh37 Chromosome 8, 31004913: 31004913
14 WRN NM_000553.4(WRN): c.3493C> T (p.Gln1165Ter) single nucleotide variant Pathogenic rs121908447 GRCh38 Chromosome 8, 31147397: 31147397
15 WRN NM_000553.4(WRN): c.3690_3693delAGAC (p.Asp1231Serfs) deletion Pathogenic rs606231162 GRCh38 Chromosome 8, 31154626: 31154629
16 WRN NM_000553.4(WRN): c.3690_3693delAGAC (p.Asp1231Serfs) deletion Pathogenic rs606231162 GRCh37 Chromosome 8, 31012142: 31012145
17 WRN NM_000553.4(WRN): c.3139-1G> C single nucleotide variant Pathogenic rs113993961 GRCh37 Chromosome 8, 30999196: 30999196
18 WRN NM_000553.4(WRN): c.3139-1G> C single nucleotide variant Pathogenic rs113993961 GRCh38 Chromosome 8, 31141680: 31141680
19 WRN NM_000553.5(WRN): c.3915dup (p.Ala1306Serfs) duplication Pathogenic rs587776621 GRCh37 Chromosome 8, 31014979: 31014979
20 WRN NM_000553.5(WRN): c.3915dup (p.Ala1306Serfs) duplication Pathogenic rs587776621 GRCh38 Chromosome 8, 31157463: 31157463
21 WRN NM_000553.5(WRN): c.1105C> T (p.Arg369Ter) single nucleotide variant Pathogenic/Likely pathogenic rs17847577 GRCh37 Chromosome 8, 30938648: 30938648
22 WRN NM_000553.5(WRN): c.1105C> T (p.Arg369Ter) single nucleotide variant Pathogenic/Likely pathogenic rs17847577 GRCh38 Chromosome 8, 31081132: 31081132
23 WRN NM_000553.4(WRN): c.3686A> T (p.Gln1229Leu) single nucleotide variant Pathogenic rs369158322 GRCh38 Chromosome 8, 31150454: 31150454
24 WRN NM_000553.4(WRN): c.3686A> T (p.Gln1229Leu) single nucleotide variant Pathogenic rs369158322 GRCh37 Chromosome 8, 31007970: 31007970
25 WRN RECQL2, 1-BP DEL, NT1396 deletion Pathogenic
26 WRN NM_000553.4(WRN): c.1730A> T (p.Lys577Met) single nucleotide variant Pathogenic rs121908448 GRCh37 Chromosome 8, 30948359: 30948359
27 WRN NM_000553.4(WRN): c.1730A> T (p.Lys577Met) single nucleotide variant Pathogenic rs121908448 GRCh38 Chromosome 8, 31090843: 31090843
28 WRN NM_000553.5(WRN): c.375A> T (p.Lys125Asn) single nucleotide variant no interpretation for the single variant rs387906337 GRCh37 Chromosome 8, 30922450: 30922450
29 WRN NM_000553.5(WRN): c.375A> T (p.Lys125Asn) single nucleotide variant no interpretation for the single variant rs387906337 GRCh38 Chromosome 8, 31064934: 31064934
30 WRN NM_000553.5(WRN): c.403A> G (p.Lys135Glu) single nucleotide variant no interpretation for the single variant rs267607008 GRCh37 Chromosome 8, 30922478: 30922478
31 WRN NM_000553.5(WRN): c.403A> G (p.Lys135Glu) single nucleotide variant no interpretation for the single variant rs267607008 GRCh38 Chromosome 8, 31064962: 31064962
32 WRN NM_000553.4(WRN): c.2089-3024A> G single nucleotide variant Pathogenic rs281865157 GRCh37 Chromosome 8, 30966107: 30966107
33 WRN NM_000553.4(WRN): c.2089-3024A> G single nucleotide variant Pathogenic rs281865157 GRCh38 Chromosome 8, 31108591: 31108591
34 WRN NM_000553.5(WRN): c.2179dup (p.Cys727Leufs) duplication Pathogenic rs281865158 GRCh37 Chromosome 8, 30969221: 30969221
35 WRN NM_000553.5(WRN): c.2179dup (p.Cys727Leufs) duplication Pathogenic rs281865158 GRCh38 Chromosome 8, 31111705: 31111705
36 WRN NM_000553.5(WRN): c.2500C> T (p.Arg834Cys) single nucleotide variant Benign rs3087425 GRCh37 Chromosome 8, 30977810: 30977810
37 WRN NM_000553.5(WRN): c.2500C> T (p.Arg834Cys) single nucleotide variant Benign rs3087425 GRCh38 Chromosome 8, 31120294: 31120294
38 WRN NM_000553.4(WRN): c.3460-2A> C single nucleotide variant Pathogenic rs281865159 GRCh37 Chromosome 8, 31004878: 31004878
39 WRN NM_000553.4(WRN): c.3460-2A> C single nucleotide variant Pathogenic rs281865159 GRCh38 Chromosome 8, 31147362: 31147362
40 WRN NM_000553.4(WRN): c.3590delA (p.Asn1197Thrfs) deletion Pathogenic rs281865160 GRCh37 Chromosome 8, 31007874: 31007874
41 WRN NM_000553.4(WRN): c.3590delA (p.Asn1197Thrfs) deletion Pathogenic rs281865160 GRCh38 Chromosome 8, 31150358: 31150358
42 WRN NM_000553.4(WRN): c.1577-3C> A single nucleotide variant Benign/Likely benign rs3087409 GRCh37 Chromosome 8, 30946403: 30946403
43 WRN NM_000553.4(WRN): c.1577-3C> A single nucleotide variant Benign/Likely benign rs3087409 GRCh38 Chromosome 8, 31088887: 31088887
44 WRN NM_000553.4(WRN): c.3138+6C> T single nucleotide variant Benign rs3024239 GRCh37 Chromosome 8, 30999122: 30999122
45 WRN NM_000553.4(WRN): c.3138+6C> T single nucleotide variant Benign rs3024239 GRCh38 Chromosome 8, 31141606: 31141606
46 WRN NM_000553.4(WRN): c.3138+7G> A single nucleotide variant Benign rs2737335 GRCh38 Chromosome 8, 31141607: 31141607
47 WRN NM_000553.4(WRN): c.3138+7G> A single nucleotide variant Benign rs2737335 GRCh37 Chromosome 8, 30999123: 30999123
48 WRN NM_000553.4(WRN): c.3236C> T (p.Ser1079Leu) single nucleotide variant Benign/Likely benign rs3087414 GRCh37 Chromosome 8, 31000144: 31000144
49 WRN NM_000553.4(WRN): c.3236C> T (p.Ser1079Leu) single nucleotide variant Benign/Likely benign rs3087414 GRCh38 Chromosome 8, 31142628: 31142628
50 WRN NM_000553.5(WRN): c.1161G> A (p.Met387Ile) single nucleotide variant Benign/Likely benign rs1800391 GRCh37 Chromosome 8, 30938704: 30938704
Sources

Expression for Werner Syndrome

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

Pathways for Werner Syndrome

About this section

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Cell Cycle, Mitotic 67
Show member pathways
 13.16 BLM EXO1 FEN1 LMNA MRE11 RPA1
2
Regulation of TP53 Activity 67
Show member pathways
 12.75 BLM EXO1 MRE11 RPA1 WRN
3
DNA Double-Strand Break Repair 67
Show member pathways
 12.66 BLM EXO1 FEN1 MRE11 PARP1 POLB
4
Telomere C-strand (Lagging Strand) Synthesis 67
Show member pathways
 12.62 FEN1 PARP1 POLB RPA1 WRN
5
Chks in Checkpoint Regulation 65
Show member pathways
 12.49 FEN1 LMNA MRE11 PARP1 POLB XRCC5
6
Cell Cycle Checkpoints 67
Show member pathways
 12.4 BLM EXO1 MRE11 RPA1 WRN
7
SUMOylation 67
Show member pathways
 12.38 BLM PARP1 RPA1 WRN
8
Meiosis 67
Show member pathways
 12.28 BLM LMNA MRE11 RPA1
9
Homologous DNA Pairing and Strand Exchange 67
Show member pathways
 12.06 BLM EXO1 MRE11 RPA1 WRN
10
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) 67
Show member pathways
 11.84 BLM EXO1 MRE11 RPA1 WRN
11
DNA Damage 4
11.83 BLM FEN1 LMNA MRE11 RECQL RECQL4
12
Mismatch repair 1 38 67
Show member pathways
 11.69 EXO1 FEN1 RPA1
13
BRCA1 Pathway 65
Show member pathways
 11.59 BLM HELLS MRE11
14
Regulation of Telomerase 1
11.44 BLM MRE11 WRN XRCC5
15
BARD1 signaling events 1
11.02 MRE11 XRCC5
16
DNA damage_NHEJ mechanisms of DSBs repair 23
10.84 FEN1 MRE11 WRN XRCC5
Sources

GO Terms for Werner Syndrome

About this section

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.99 BLM DHX9 FEN1 PARP1 WRN XRCC5
2 protein-containing complex GO:0032991 9.88 DHX9 FEN1 PARP1 POLB VCP XRCC5
3 nucleus GO:0005634 9.86 BLM DHX9 EXO1 FEN1 HELLS LMNA
4 chromosome GO:0005694 9.7 BLM MRE11 RECQL RECQL4 RECQL5 WRN
5 nuclear chromosome, telomeric region GO:0000784 9.65 FEN1 MRE11 PARP1 RPA1 XRCC5
6 PML body GO:0016605 9.63 BLM MRE11 RPA1
7 chromosome, telomeric region GO:0000781 9.62 BLM MRE11 RECQL4 WRN
8 site of double-strand break GO:0035861 9.61 MRE11 VCP WRN
9 site of DNA damage GO:0090734 9.54 PARP1 RPA1 XRCC5
10 replication fork GO:0005657 9.49 BLM WRN
11 DNA replication factor A complex GO:0005662 9.48 RPA1 WRN
12 nucleoplasm GO:0005654 9.47 BLM DHX9 EXO1 FEN1 LMNA MRE11

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.96 BLM DHX9 EXO1 FEN1 MRE11 POLB
2 double-strand break repair GO:0006302 9.93 FEN1 MRE11 PARP1 VCP WRN XRCC5
3 telomere maintenance GO:0000723 9.91 MRE11 PARP1 RECQL4 RPA1 WRN XRCC5
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.84 EXO1 FEN1 MRE11 WRN
5 DNA recombination GO:0006310 9.81 BLM EXO1 MRE11 RECQL RECQL4 RECQL5
6 base-excision repair GO:0006284 9.8 FEN1 POLB RECQL4 RPA1 WRN
7 meiotic cell cycle GO:0051321 9.78 EXO1 MRE11 RPA1
8 double-strand break repair via nonhomologous end joining GO:0006303 9.74 BLM MRE11 XRCC5
9 positive regulation of type I interferon production GO:0032481 9.72 DHX9 MRE11 XRCC5
10 t-circle formation GO:0090656 9.7 BLM EXO1 WRN
11 DNA strand renaturation GO:0000733 9.69 BLM RECQL RECQL4
12 mismatch repair GO:0006298 9.67 EXO1 RPA1
13 response to gamma radiation GO:0010332 9.67 PARP1 POLB
14 telomeric D-loop disassembly GO:0061820 9.67 BLM RECQL4 WRN
15 cellular response to gamma radiation GO:0071480 9.66 WRN XRCC5
16 nucleotide-excision repair, preincision complex assembly GO:0006294 9.66 PARP1 RPA1
17 positive regulation of DNA replication GO:0045740 9.65 DHX9 RECQL4
18 replication fork processing GO:0031297 9.65 BLM WRN
19 DNA-dependent DNA replication GO:0006261 9.65 POLB RPA1
20 G-quadruplex DNA unwinding GO:0044806 9.65 BLM DHX9 WRN
21 telomere maintenance via telomerase GO:0007004 9.64 MRE11 RPA1
22 nucleotide-excision repair, DNA gap filling GO:0006297 9.64 POLB RPA1
23 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.63 PARP1 RPA1
24 response to X-ray GO:0010165 9.63 BLM RECQL5
25 error-free translesion synthesis GO:0070987 9.62 RPA1 VCP
26 telomere maintenance via semi-conservative replication GO:0032201 9.62 FEN1 RPA1
27 mitotic G2 DNA damage checkpoint GO:0007095 9.61 BLM MRE11
28 double-strand break repair via homologous recombination GO:0000724 9.61 BLM FEN1 MRE11 PARP1 RECQL RECQL4
29 somatic hypermutation of immunoglobulin genes GO:0016446 9.6 EXO1 POLB
30 DNA double-strand break processing GO:0000729 9.59 BLM MRE11
31 cellular metabolic process GO:0044237 9.58 BLM WRN
32 DNA synthesis involved in DNA repair GO:0000731 9.58 BLM WRN
33 cellular response to camptothecin GO:0072757 9.56 BLM RECQL5
34 DNA duplex unwinding GO:0032508 9.23 BLM DHX9 MRE11 RECQL RECQL4 RECQL5
35 DNA repair GO:0006281 10.13 BLM EXO1 FEN1 MRE11 PARP1 POLB
36 cellular response to DNA damage stimulus GO:0006974 10.11 BLM EXO1 FEN1 MRE11 PARP1 POLB

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.97 BLM EXO1 FEN1 WRN
2 ATPase activity GO:0016887 9.95 BLM DHX9 VCP WRN
3 nuclease activity GO:0004518 9.88 EXO1 FEN1 MRE11 WRN
4 single-stranded DNA binding GO:0003697 9.87 BLM DHX9 RECQL4 RPA1
5 damaged DNA binding GO:0003684 9.86 FEN1 POLB RPA1 XRCC5
6 endonuclease activity GO:0004519 9.84 EXO1 FEN1 MRE11
7 exonuclease activity GO:0004527 9.83 EXO1 FEN1 MRE11 WRN
8 manganese ion binding GO:0030145 9.81 FEN1 MRE11 WRN
9 double-stranded DNA binding GO:0003690 9.81 DHX9 FEN1 MRE11 XRCC5
10 helicase activity GO:0004386 9.76 BLM DHX9 HELLS RECQL RECQL4 RECQL5
11 DNA helicase activity GO:0003678 9.73 BLM RECQL RECQL5 WRN
12 ATP-dependent DNA helicase activity GO:0004003 9.73 BLM DHX9 MRE11 RECQL WRN XRCC5
13 ATP-dependent helicase activity GO:0008026 9.72 BLM RECQL RECQL4 RECQL5 WRN
14 5'-3' exonuclease activity GO:0008409 9.71 EXO1 FEN1 MRE11
15 3'-5' exonuclease activity GO:0008408 9.68 MRE11 WRN
16 four-way junction DNA binding GO:0000400 9.67 BLM WRN
17 RNA-DNA hybrid ribonuclease activity GO:0004523 9.67 EXO1 FEN1
18 annealing helicase activity GO:0036310 9.67 BLM RECQL RECQL4
19 G-quadruplex DNA binding GO:0051880 9.65 BLM WRN
20 5'-flap endonuclease activity GO:0017108 9.65 EXO1 FEN1
21 bubble DNA binding GO:0000405 9.65 BLM RECQL4 WRN
22 Y-form DNA binding GO:0000403 9.64 BLM WRN
23 telomeric D-loop binding GO:0061821 9.63 BLM RECQL4 WRN
24 8-hydroxy-2'-deoxyguanosine DNA binding GO:1905773 9.61 BLM WRN
25 flap endonuclease activity GO:0048256 9.6 EXO1 FEN1
26 telomeric G-quadruplex DNA binding GO:0061849 9.59 BLM WRN
27 forked DNA-dependent helicase activity GO:0061749 9.58 BLM WRN
28 double-stranded telomeric DNA binding GO:0003691 9.36 XRCC5
29 four-way junction helicase activity GO:0009378 9.35 BLM RECQL RECQL4 RECQL5 WRN
30 single-stranded telomeric DNA binding GO:0043047 9.34 RPA1
31 single-stranded DNA 5'-3' exodeoxyribonuclease activity GO:0045145 9.32 EXO1
32 double-stranded DNA 5'-3' exodeoxyribonuclease activity GO:0051908 9.3 EXO1
33 ATP-dependent 3'-5' DNA helicase activity GO:0043140 9.1 BLM DHX9 RECQL RECQL4 RECQL5 WRN
34 protein binding GO:0005515 10.5 BLM DHX9 EXO1 FEN1 HELLS LMNA
35 ATP binding GO:0005524 10.2 BLM DHX9 HELLS RECQL RECQL4 RECQL5
36 DNA binding GO:0003677 10.18 BLM DHX9 EXO1 FEN1 MRE11 PARP1
37 nucleic acid binding GO:0003676 10.17 BLM DHX9 RECQL RECQL4 RECQL5 RPA1
38 hydrolase activity GO:0016787 10.15 BLM DHX9 EXO1 FEN1 HELLS MRE11
Sources

Sources for Werner Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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