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MCID: WRN001
MIFTS: 69

Werner Syndrome

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal 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 57 12 24 53 25 59 75 37 29 13 55 6 44 15 40 73
Werner's Syndrome 12 76 53 25
Adult Progeria 12 25 59
Wrn 57 53 75
Ws 12 25 59
Adult Premature Ageing Syndrome 12
Adult Premature Aging Syndrome 25
Werners Syndrome 25
Wes 76

Characteristics:

Orphanet epidemiological data:

59
werner syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Japan),1-9/100000; Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
werner syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Werner Syndrome

About this section
NIH Rare Diseases : 53 Werner's syndrome is a disease chiefly characterized by premature aging and cancer predisposition. Development is typically normal until the end of the first decade; the first sign is the lack of a growth spurt during puberty. Early signs (usually in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction (heart attack) and cancer are the most common causes of death, which typically occurs in the late 40s. It is caused by mutations in the WRN gene and is inherited in an autosomal recessive manner. Management focuses on treatment of signs and symptoms and prevention of secondary complications.

MalaCards based summary : Werner Syndrome, also known as werner's syndrome, is related to atypical werner syndrome and xeroderma pigmentosum, variant type. 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 DNA Double-Strand Break Repair. The drugs Furosemide and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and lung, and related phenotypes are hypertension and cataract

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 : 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.

UniProtKB/Swiss-Prot : 75 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 : 76 Werner syndrome (WS), also known as \"adult progeria\", is a rare, autosomal recessive disorder which is... 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 71)
# Related Disease Score Top Affiliating Genes
1 atypical werner syndrome 34.3 LMNA WRN
2 xeroderma pigmentosum, variant type 29.5 FEN1 RECQL RPA1
3 ataxia-telangiectasia 28.8 MRE11 NBN RPA1
4 rothmund-thomson syndrome 28.1 BLM HELLS RECQL RECQL4 RECQL5 WRN
5 bloom syndrome 27.8 BLM FEN1 HELLS RECQL RECQL4 RECQL5
6 fanconi anemia, complementation group a 27.2 BLM FEN1 HELLS LMNA MRE11 NBN
7 williams-beuren syndrome 12.0
8 waardenburg syndrome, type 2e 11.7
9 disease of mental health 11.4
10 waardenburg's syndrome 11.4
11 waardenburg syndrome, type 3 11.3
12 depression 11.3
13 hutchinson-gilford progeria syndrome 11.2
14 obsessive-compulsive disorder 11.2
15 flynn-aird syndrome 10.9
16 soft tissue sarcoma 10.9
17 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 10.9
18 aging 10.5
19 adermatoglyphia 10.4 BLM WRN
20 spondylosis 10.0 HELLS WRN
21 diabetes mellitus, noninsulin-dependent 10.0
22 osteoporosis 10.0
23 diabetes mellitus 10.0
24 melanoma 9.9
25 autosomal dominant limb-girdle muscular dystrophy 9.9 LMNA VCP
26 arteries, anomalies of 9.8
27 breast cancer 9.8
28 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.8
29 cataract 9.8
30 coronary artery anomaly 9.8
31 sarcoma 9.8
32 hyperglycemia 9.8
33 thyroiditis 9.8
34 placenta disease 9.8
35 neuronitis 9.8
36 atrial standstill 1 9.6
37 colorectal cancer 9.6
38 macular dystrophy, dominant cystoid 9.6
39 retinal detachment 9.6
40 down syndrome 9.6
41 tangier disease 9.6
42 lung cancer 9.6
43 chondrosarcoma 9.6
44 pancreatic cancer 9.6
45 fragile x syndrome 9.6
46 membranous nephropathy 9.6
47 aortic valve disease 2 9.6
48 retinitis pigmentosa and erythrocytic microcytosis 9.6
49 ectodermal dysplasia 9.6
50 keratopathy 9.6

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Werner Syndrome:

59 32 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
2 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
3 type ii diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0005978
4 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703
7 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
8 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
9 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
10 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
11 myocardial infarction 59 32 frequent (33%) Frequent (79-30%) HP:0001658
12 hyperkeratosis 59 32 frequent (33%) Frequent (79-30%) HP:0000962
13 abnormality of the thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0000765
14 congestive heart failure 59 32 frequent (33%) Frequent (79-30%) HP:0001635
15 lack of skin elasticity 59 32 frequent (33%) Frequent (79-30%) HP:0100679
16 secondary amenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000869
17 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
18 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
19 premature graying of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002216
20 small hand 59 32 frequent (33%) Frequent (79-30%) HP:0200055
21 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
22 abnormality of the cerebral vasculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0100659
23 slender build 59 32 hallmark (90%) Very frequent (99-80%) HP:0001533
24 narrow face 59 32 frequent (33%) Frequent (79-30%) HP:0000275
25 aplasia/hypoplasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008065
26 sarcoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0100242
27 abnormality of the voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001608
28 decreased fertility 59 32 frequent (33%) Frequent (79-30%) HP:0000144
29 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
30 increased bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0011001
31 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
32 breast carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0003002
33 ovarian neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0100615
34 meningioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002858
35 pulmonary artery stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0004415
36 white forelock 59 32 hallmark (90%) Very frequent (99-80%) HP:0002211
37 gastrointestinal carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002672
38 neoplasm of the lung 59 32 occasional (7.5%) Occasional (29-5%) HP:0100526
39 neoplasm of the small intestine 59 32 occasional (7.5%) Occasional (29-5%) HP:0100833
40 chondrocalcinosis 59 32 frequent (33%) Frequent (79-30%) HP:0000934
41 atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0002621
42 squamous cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002860
43 rocker bottom foot 59 32 frequent (33%) Frequent (79-30%) HP:0001838
44 thyroid carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002890
45 renal neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0009726
46 insulin resistance 59 32 frequent (33%) Frequent (79-30%) HP:0000855
47 pili torti 59 32 hallmark (90%) Very frequent (99-80%) HP:0003777
48 abnormal hair whorl 59 32 hallmark (90%) Very frequent (99-80%) HP:0010721
49 subcutaneous calcification 59 32 frequent (33%) Frequent (79-30%) HP:0007618
50 aplasia/hypoplasia of the testes 59 32 frequent (33%) Frequent (79-30%) HP:0010468

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 EXO1 FEN1 MRE11 NBN RECQL RECQL4
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.7 MRE11 NBN RPA1 BLM EXO1 FEN1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.7 MRE11 NBN RPA1 BLM EXO1 FEN1

MGI Mouse Phenotypes related to Werner Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.38 DHX9 EXO1 FEN1 HELLS LMNA MRE11
2 hematopoietic system MP:0005397 10.17 XRCC5 BLM DHX9 EXO1 FEN1 HELLS
3 immune system MP:0005387 10.1 BLM DHX9 EXO1 FEN1 HELLS LMNA
4 growth/size/body region MP:0005378 10.07 HELLS LMNA NBN POLB RECQL4 VCP
5 endocrine/exocrine gland MP:0005379 10.06 EXO1 FEN1 HELLS LMNA NBN POLB
6 embryo MP:0005380 10.03 BLM DHX9 FEN1 HELLS MRE11 NBN
7 digestive/alimentary MP:0005381 9.93 FEN1 LMNA POLB RECQL4 WRN XRCC5
8 mortality/aging MP:0010768 9.8 BLM DHX9 EXO1 HELLS LMNA MRE11
9 integument MP:0010771 9.7 BLM HELLS LMNA POLB RECQL4 VCP
10 neoplasm MP:0002006 9.28 BLM EXO1 FEN1 MRE11 NBN RECQL4
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 408)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
2
Methyltestosterone Approved Phase 4,Phase 3,Phase 2 58-18-4 6010
3
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2 58-22-0 6013
4
Testosterone enanthate Approved Phase 4,Phase 3,Phase 2 315-37-7 9416
5
Testosterone undecanoate Approved, Investigational Phase 4,Phase 3,Phase 2 5949-44-0
6
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7 4594 9579578
7
Pantoprazole Approved Phase 4 102625-70-7 4679
8
Dopamine Approved Phase 4,Phase 2 51-61-6, 62-31-7 681
9
Bupivacaine Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable 2180-92-9, 38396-39-3 2474
10
Levobupivacaine Approved, Investigational Phase 4,Not Applicable 27262-47-1 92253
11
Zoledronic acid Approved Phase 4 118072-93-8 68740
12
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
13
Apixaban Approved Phase 4,Phase 3 503612-47-3 10182969
14
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
15
Warfarin Approved Phase 4 81-81-2 6691 54678486
16
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
17 Defibrotide Approved, Investigational Phase 4 83712-60-1
18
Verapamil Approved Phase 4 52-53-9 2520
19
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
20
Phytonadione Approved, Investigational, Nutraceutical Phase 4 84-80-0 4812 5284607
21
Serine Approved, Nutraceutical Phase 4,Phase 3 56-45-1 5951
22 diuretics Phase 4
23 Natriuretic Agents Phase 4
24 Sodium Potassium Chloride Symporter Inhibitors Phase 4
25 Anabolic Agents Phase 4,Phase 3,Phase 2
26 Androgens Phase 4,Phase 3,Phase 2
27 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2
28 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
29 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Testosterone 17 beta-cypionate Phase 4,Phase 3,Phase 2
32 Gastrointestinal Agents Phase 4,Phase 2,Not Applicable
33 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Micronutrients Phase 4,Phase 3,Not Applicable
36 Trace Elements Phase 4,Phase 3,Not Applicable
37 Vitamins Phase 4,Not Applicable
38 Narcotic Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
39 Narcotics Phase 4,Phase 2,Phase 1,Not Applicable
40 Antacids Phase 4
41 Anti-Ulcer Agents Phase 4
42 Proton Pump Inhibitors Phase 4,Not Applicable
43 Autonomic Agents Phase 4,Phase 2
44 Dopamine Agents Phase 4,Phase 2
45 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1
46 Anesthetics Phase 4,Phase 3,Phase 1,Not Applicable
47 Anesthetics, Local Phase 4,Phase 3,Phase 1
48 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 Bone Density Conservation Agents Phase 4,Phase 3,Not Applicable
50 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 290)
# Name Status NCT ID Phase Drugs
1 Investigation of Gender Specificity of the Effects of Furosemide in Healthy Female and Male Volunteers Unknown status NCT01156220 Phase 4 Furosemide;aminohippurate sodium
2 Open-label, Follow-up Study of Oral Testosterone Undecanoate in Hypogonadal Men Unknown status NCT01699178 Phase 4 Oral testosterone undecanoate;Transdermal testosterone gel (AndroGel)
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 Low Dose Naltrexone for Treatment of Pain in Patients With Fibromyalgia - Effect Via a Central Mechanism? Recruiting NCT02806440 Phase 4 Low dose naltrexone;Placebo
14 Biomarker Guided Treatment in Gynaecological Cancer Recruiting NCT02543710 Phase 4 Biomarker guided weekly taxane treatment in endometrial/ ovarian cancer
15 Defibrotide in the Human Endotoxemia Model --‐ an Exploratory Trial Investigating the Effects and the Mechanisms of Defibrotide Recruiting NCT02876601 Phase 4 Defibrotide;Placebo (0.9% sodium chloride);Lipopolysaccharide
16 Prevention of Silent Cerebral Thromboembolism by Oral Anticoagulation With Dabigatran After Pulmonary Vein Isolation for Atrial Fibrillation Recruiting NCT02067182 Phase 4 Dabigatran
17 TQL-block for Laparoscopic Hemicolectomy Not yet recruiting NCT03570541 Phase 4 Ropivacaine;Acetaminophen;Morphine;Saline
18 Short-term Stenting Versus Balloon Dilatation for Dominant Strictures in Primary Sclerosing Cholangitis Unknown status NCT01398917 Phase 3
19 Multi Centre Trial of DSMM for Newly Diagnosed Multiple Myeloma up to 60 Years Unknown status NCT00546988 Phase 3
20 F18PET/CT Versus TC-MDP Scanning to Detect Bone Mets Unknown status NCT00882609 Phase 3
21 Comparing Desflurane to Sevoflurane for the Effect on Recovery Time in Patients Undergoing Urological Cystoscope Surgery Completed NCT01219881 Phase 3 Desflurane;Sevoflurane
22 Bladder Scan of Residual Urine With New Catheter Completed NCT01048541 Phase 2, Phase 3
23 Trigger-point Blockade in Persistent Pain After Laparoscopical Groin Hernia Repair Completed NCT02065804 Phase 3 Bupivacaine
24 Trigger-point Blockade in Persistent Pain After Open Groin Hernia Repair Completed NCT02065219 Phase 3 Bupivacaine;Placebo
25 Bosentan for Mild Pulmonary Vascular Disease in Asd Patients. Completed NCT01218607 Phase 3 Bosentan;Placebo
26 Comparing Two Forms of Head Immobilization for Stereotactic Radiotherapy Completed NCT00328510 Phase 3
27 Efficacy and Safety Trial of Transcranial Laser Therapy Within 24 Hours From Stroke Onset (NEST-3) Completed NCT01120301 Phase 3
28 Gemcitabine With or Without Capecitabine in Treating Patients With Advanced Pancreatic Cancer Completed NCT00030732 Phase 3 Gemcitabine + Capecitabine;Gemcitabine alone
29 Venticute in Patients With Pneumonia or Aspiration of Gastric Contents and Intubation/Ventilation/Oxygenation Impairment (BY2001/M1-007) Completed NCT00074906 Phase 3 Venticute
30 Study About Efficacy and Safety to Treat Multi-System-Atrophy Completed NCT00146809 Phase 3 Minocyline
31 Efficacy, Safety, Tolerability of Neramexane in Patients With Subjective Tinnitus Completed NCT00955799 Phase 3 Neramexane mesylate;Placebo
32 Efficacy, Safety and Tolerability of Neramexane in Patients With Subjective Tinnitus Completed NCT00739635 Phase 3 Neramexane mesylate;Placebo
33 Safety and Efficacy Trial of Oral Testosterone Undecanoate (TU) in Hypogonadal Men Completed NCT01403116 Phase 3 oral testosterone undecanoate;topical testosterone gel 1%
34 Study of AA4500 in the Treatment of Peyronie's Disease Completed NCT01221623 Phase 3
35 Monoclonal Antibody Therapy (Rencarex®) in Treating Patients Who Have Undergone Surgery for Non-metastatic Kidney Cancer Completed NCT00087022 Phase 3
36 Telemedical Interventional Management in Heart Failure II Completed NCT01878630 Phase 3
37 Prostate Cancer Prevention Study for Men With High Grade PIN (Prostatic Intraepithelial Neoplasia) Completed NCT00106691 Phase 3 Toremifene 20 mg;Placebo
38 Study of Atrasentan in Men With Non-Metastatic, Hormone-Refractory Prostate Cancer Completed NCT00036556 Phase 3 Atrasentan
39 Study to Investigate Efficacy and Safety of a New Oral Contraceptive Completed NCT00185289 Phase 3 EV/DNG (Qlaira, BAY86-5027, SH T00658K)
40 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
41 Radiation Therapy Regimens in Treating Patients With Limited-Stage Small Cell Lung Cancer Receiving Cisplatin and Etoposide Recruiting NCT00632853 Phase 3 cisplatin;etoposide;carboplatin
42 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
43 Androgen-Deprivation Therapy and Radiation Therapy in Treating Patients With Prostate Cancer Recruiting NCT01368588 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 EMPagliflozin outcomE tRial in Patients With chrOnic heaRt Failure With Reduced Ejection Fraction (EMPEROR-Reduced) Recruiting NCT03057977 Phase 3 Empagliflozin;Placebo
46 EMPagliflozin outcomE tRial in Patients With chrOnic heaRt Failure With Preserved Ejection Fraction (EMPEROR-Preserved) Recruiting NCT03057951 Phase 3 Empagliflozin;Placebo
47 A Study of Galcanezumab (LY2951742) in Participants 6 to 17 Years of Age With Episodic Migraine Recruiting NCT03432286 Phase 3 Galcanezumab;Placebo
48 Double Blind Placebo Controlled Controlled Study of Adjuvant MEDI4736 In Completely Resected NSCLC Recruiting NCT02273375 Phase 3 MEDI4736;Placebo
49 Efficacy and Safety Study of Maribavir in Transplant Recipients With Cytomegalovirus (CMV) Infections That Are Refractory or Resistant to Treatment With Ganciclovir, Valganciclovir, Foscarnet, or Cidofovir Recruiting NCT02931539 Phase 3 Maribavir;Investigator-Assigned Treatment
50 Comparing Photon Therapy To Proton Therapy To Treat Patients With Lung Cancer Recruiting NCT01993810 Phase 3 paclitaxel;carboplatin;etoposide;cisplatin

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:

41
Skin, Heart, Lung, Prostate, Bone, Kidney, Thyroid
Sources

Publications for Werner Syndrome

About this section

Articles related to Werner Syndrome:

(show top 50) (show all 492)
# Title Authors Year
1
Werner syndrome: a rare mutation. ( 29876830 )
2018
2
Werner syndrome: a rare cause of osteoporosis in a young female. ( 29878212 )
2018
3
Reduction of Werner Syndrome Protein Enhances G:C a89 A:T Transition by O<sup>6</sup>-Methylguanine in Human Cells. ( 29616805 )
2018
4
Primary Bullous Keratopathy in a Patient With Werner Syndrome Treated With Corneal Transplant. ( 29534662 )
2018
5
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
6
Folate modulates guanine-quadruplex frequency and DNA damage in Werner syndrome. ( 29412869 )
2018
7
A novel WRN mutation identified in a patient with Werner syndrome and acute generalized exanthematous pustulosis. ( 29952303 )
2018
8
Nonfunctional mutant Wrn protein leads to neurological deficits, neuronal stress, microglial alteration, and immune imbalance in a mouse model of Werner syndrome. ( 29908963 )
2018
9
The ophthalmic diagnosis and management of four siblings with Werner syndrome. ( 29705892 )
2018
10
Differential stem cell aging kinetics in Hutchinson-Gilford progeria syndrome and Werner syndrome. ( 29476423 )
2018
11
Werner syndrome (WRN) gene variants and their association with altered function and age-associated diseases. ( 29146545 )
2018
12
Progeria (Werner Syndrome) ( 29939574 )
2018
13
Accelerated epigenetic aging in Werner syndrome. ( 28377537 )
2017
14
Werner Syndrome and Diabetes Mellitus Accompanied by Adrenal Cortex Cancer. ( 28768969 )
2017
15
Cognitive deficit in hippocampal-dependent tasks in Werner syndrome mouse model. ( 28119126 )
2017
16
The Relationship between Werner Syndrome and Sinonasal Malignant Melanoma: Two Sibling Cases of Werner Syndrome with Malignant Melanoma. ( 28717528 )
2017
17
Scratching the Surface of Werner Syndrome and Human Ageing. ( 29456476 )
2017
18
Transcatheter aortic valve replacement in a patient with Werner syndrome. ( 28631398 )
2017
19
Werner syndrome: a model for sarcopenia due to accelerated aging. ( 28738022 )
2017
20
Do you know this syndrome? Werner syndrome. ( 28538897 )
2017
21
Recent Advances in Understanding Werner Syndrome. ( 29043077 )
2017
22
Residues in the RecQ C-terminal Domain of the Human Werner Syndrome Helicase are Involved in Unwinding G-quadruplex DNA. ( 28069813 )
2017
23
A novel splice-site mutation of WRN (c.IVS28+2T&amp;gt;C) identified in a consanguineous family with Werner Syndrome. ( 28440507 )
2017
24
Uncommon cause of cirrhosis-A case of Werner syndrome with a novel WRN mutation. ( 28795391 )
2017
25
Nailfold scleroderma-like capillary abnormalities in Werner syndrome (adult progeria). ( 28466674 )
2017
26
Genome-wide DNA methylation analysis in blood cells from patients with Werner syndrome. ( 28861129 )
2017
27
Case of Werner syndrome complicated by adrenal insufficiency due to hypothalamic dysfunction. ( 28240455 )
2017
28
The Werner Syndrome Helicase Coordinates Sequential Strand Displacement and FEN1-Mediated Flap Cleavage during Polymerase I' Elongation. ( 27849570 )
2017
29
Femoral osteoporosis is more common than lumbar osteoporosis in patients with Werner syndrome. ( 28508498 )
2017
30
Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype. ( 28276523 )
2017
31
Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome. ( 28394436 )
2017
32
Werner syndrome through the lens of tissue and tumour genomics. ( 27559010 )
2016
33
The effect of RO3201195 and a pyrazolyl ketone P38 MAPK inhibitor library on the proliferation of Werner syndrome cells. ( 26611938 )
2016
34
Improved Glycemic Control and Vascular Function and Reduction of Abdominal Fat Accumulation with Liraglutide in a Case of Werner Syndrome with Diabetes Mellitus. ( 27000366 )
2016
35
Radiographic presentation of musculoskeletal involvement in Werner syndrome (adult progeria). ( 27931782 )
2016
36
Evaluating the Role of p38 MAPK in the Accelerated Cell Senescence of Werner Syndrome Fibroblasts. ( 27136566 )
2016
37
Case of sarcomatoid carcinoma occurring in a patient with Werner syndrome. ( 27074772 )
2016
38
Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions. ( 26993153 )
2016
39
Increased susceptibility to oxidative stress- and ultraviolet A-induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA mutation. ( 27539898 )
2016
40
The Caenorhabditis elegans Werner syndrome protein participates in DNA damage checkpoint and DNA repair in response to CPT-induced double-strand breaks. ( 26691982 )
2016
41
Inflammageing assessed by MMP9 in normal Japanese individuals and the patients with Werner syndrome. ( 27195193 )
2016
42
Active Control of Repetitive Structural Transitions between Replication Forks and Holliday Junctions by Werner Syndrome Helicase. ( 27427477 )
2016
43
WRN, the Werner Syndrome Gene, Exhibits Frameshift Mutations in Gastric and Colorectal Cancers. ( 28012115 )
2016
44
The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription. ( 26984941 )
2016
45
Vitamin C alleviates aging defects in a stem cell model for Werner syndrome. ( 27271327 )
2016
46
Adult Progeria: Werner Syndrome. ( 27734655 )
2016
47
A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapies. ( 25830902 )
2015
48
Association of the rs1346044 Polymorphism of the Werner Syndrome Gene RECQL2 with Increased Risk and Premature Onset of Breast Cancer. ( 26690424 )
2015
49
Werner Syndrome with Heart Block. ( 26071823 )
2015
50
Interstitial Lung Disease in Werner Syndrome: A Case Report of a 55-Year-Old Male Patient. ( 26788395 )
2015
Sources

Variations for Werner Syndrome

About this section

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

75
# 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 1023)
# Gene Variation Type Significance SNP ID Assembly Location
1 WRN NM_000553.4(WRN): c.3686A> T (p.Gln1229Leu) single nucleotide variant Pathogenic rs369158322 GRCh37 Chromosome 8, 31007970: 31007970
2 WRN RECQL2, 1-BP DEL, NT1396 deletion Pathogenic
3 WRN NM_000553.4(WRN): c.1730A> T (p.Lys577Met) single nucleotide variant Pathogenic rs121908448 GRCh37 Chromosome 8, 30948359: 30948359
4 WRN NM_000553.4(WRN): c.1730A> T (p.Lys577Met) single nucleotide variant Pathogenic rs121908448 GRCh38 Chromosome 8, 31090843: 31090843
5 WRN NM_000553.4(WRN): c.3913C> T (p.Arg1305Ter) single nucleotide variant Pathogenic rs121908446 GRCh37 Chromosome 8, 31014977: 31014977
6 WRN NM_000553.4(WRN): c.3913C> T (p.Arg1305Ter) single nucleotide variant Pathogenic rs121908446 GRCh38 Chromosome 8, 31157461: 31157461
7 WRN NM_000553.4(WRN): c.3493C> T (p.Gln1165Ter) single nucleotide variant Pathogenic rs121908447 GRCh37 Chromosome 8, 31004913: 31004913
8 WRN NM_000553.4(WRN): c.3493C> T (p.Gln1165Ter) single nucleotide variant Pathogenic rs121908447 GRCh38 Chromosome 8, 31147397: 31147397
9 WRN NM_000553.4(WRN): c.3690_3693delAGAC (p.Asp1231Serfs) deletion Pathogenic rs606231162 GRCh38 Chromosome 8, 31154626: 31154629
10 WRN NM_000553.4(WRN): c.3690_3693delAGAC (p.Asp1231Serfs) deletion Pathogenic rs606231162 GRCh37 Chromosome 8, 31012142: 31012145
11 WRN NM_000553.4(WRN): c.3139-1G> C single nucleotide variant Pathogenic rs113993961 GRCh37 Chromosome 8, 30999196: 30999196
12 WRN NM_000553.4(WRN): c.3139-1G> C single nucleotide variant Pathogenic rs113993961 GRCh38 Chromosome 8, 31141680: 31141680
13 WRN NM_000553.5(WRN): c.3915dup (p.Ala1306Serfs) duplication Pathogenic rs587776621 GRCh37 Chromosome 8, 31014979: 31014979
14 WRN NM_000553.5(WRN): c.3915dup (p.Ala1306Serfs) duplication Pathogenic rs587776621 GRCh38 Chromosome 8, 31157463: 31157463
15 WRN NM_000553.4(WRN): c.1105C> T (p.Arg369Ter) single nucleotide variant Pathogenic rs17847577 GRCh37 Chromosome 8, 30938648: 30938648
16 WRN NM_000553.4(WRN): c.1105C> T (p.Arg369Ter) single nucleotide variant Pathogenic rs17847577 GRCh38 Chromosome 8, 31081132: 31081132
17 WRN NM_000553.4(WRN): c.3686A> T (p.Gln1229Leu) single nucleotide variant Pathogenic rs369158322 GRCh38 Chromosome 8, 31150454: 31150454
18 WRN NM_000553.4(WRN): c.2089-3024A> G single nucleotide variant Pathogenic rs281865157 GRCh37 Chromosome 8, 30966107: 30966107
19 WRN NM_000553.4(WRN): c.2089-3024A> G single nucleotide variant Pathogenic rs281865157 GRCh38 Chromosome 8, 31108591: 31108591
20 WRN NM_000553.5(WRN): c.2179dup (p.Cys727Leufs) duplication Pathogenic rs281865158 GRCh37 Chromosome 8, 30969221: 30969221
21 WRN NM_000553.5(WRN): c.2179dup (p.Cys727Leufs) duplication Pathogenic rs281865158 GRCh38 Chromosome 8, 31111705: 31111705
22 WRN NM_000553.4(WRN): c.3460-2A> C single nucleotide variant Pathogenic rs281865159 GRCh37 Chromosome 8, 31004878: 31004878
23 WRN NM_000553.4(WRN): c.3460-2A> C single nucleotide variant Pathogenic rs281865159 GRCh38 Chromosome 8, 31147362: 31147362
24 WRN NM_000553.4(WRN): c.3590delA (p.Asn1197Thrfs) deletion Pathogenic rs281865160 GRCh37 Chromosome 8, 31007874: 31007874
25 WRN NM_000553.4(WRN): c.3590delA (p.Asn1197Thrfs) deletion Pathogenic rs281865160 GRCh38 Chromosome 8, 31150358: 31150358
26 WRN NM_000553.5(WRN): c.373A> G (p.Lys125Glu) single nucleotide variant Uncertain significance rs267607007 GRCh38 Chromosome 8, 31064932: 31064932
27 WRN NM_000553.5(WRN): c.373A> G (p.Lys125Glu) single nucleotide variant Uncertain significance rs267607007 GRCh37 Chromosome 8, 30922448: 30922448
28 WRN NM_000553.4(WRN): c.1530_1532delAGA (p.Glu510del) deletion Uncertain significance rs794727050 GRCh37 Chromosome 8, 30945390: 30945392
29 WRN NM_000553.4(WRN): c.1530_1532delAGA (p.Glu510del) deletion Uncertain significance rs794727050 GRCh38 Chromosome 8, 31087874: 31087876
30 WRN NM_000553.4(WRN): c.2521G> A (p.Ala841Thr) single nucleotide variant Uncertain significance rs748169173 GRCh37 Chromosome 8, 30977831: 30977831
31 WRN NM_000553.4(WRN): c.2521G> A (p.Ala841Thr) single nucleotide variant Uncertain significance rs748169173 GRCh38 Chromosome 8, 31120315: 31120315
32 WRN NM_000553.5(WRN): c.3091G> C (p.Val1031Leu) single nucleotide variant Uncertain significance rs138492730 GRCh37 Chromosome 8, 30999069: 30999069
33 WRN NM_000553.5(WRN): c.3091G> C (p.Val1031Leu) single nucleotide variant Uncertain significance rs138492730 GRCh38 Chromosome 8, 31141553: 31141553
34 WRN NM_000553.5(WRN): c.3627T> A (p.Ala1209=) single nucleotide variant Likely benign rs780963410 GRCh37 Chromosome 8, 31007911: 31007911
35 WRN NM_000553.5(WRN): c.3627T> A (p.Ala1209=) single nucleotide variant Likely benign rs780963410 GRCh38 Chromosome 8, 31150395: 31150395
36 WRN NM_000553.5(WRN): c.561A> G (p.Lys187=) single nucleotide variant Pathogenic rs775802030 GRCh37 Chromosome 8, 30924605: 30924605
37 WRN NM_000553.5(WRN): c.561A> G (p.Lys187=) single nucleotide variant Pathogenic rs775802030 GRCh38 Chromosome 8, 31067089: 31067089
38 WRN NM_000553.5(WRN): c.487_488delGA (p.Asp163Cysfs) deletion Likely pathogenic rs797045118 GRCh37 Chromosome 8, 30922562: 30922563
39 WRN NM_000553.5(WRN): c.487_488delGA (p.Asp163Cysfs) deletion Likely pathogenic rs797045118 GRCh38 Chromosome 8, 31065046: 31065047
40 WRN NM_000553.4(WRN): c.15delA (p.Lys5Asnfs) deletion Pathogenic rs878854133 GRCh37 Chromosome 8, 30915978: 30915978
41 WRN NM_000553.4(WRN): c.15delA (p.Lys5Asnfs) deletion Pathogenic rs878854133 GRCh38 Chromosome 8, 31058462: 31058462
42 WRN NM_000553.5(WRN): c.16T> C (p.Leu6=) single nucleotide variant Conflicting interpretations of pathogenicity rs202148988 GRCh37 Chromosome 8, 30915979: 30915979
43 WRN NM_000553.5(WRN): c.16T> C (p.Leu6=) single nucleotide variant Conflicting interpretations of pathogenicity rs202148988 GRCh38 Chromosome 8, 31058463: 31058463
44 WRN NM_000553.4(WRN): c.106C> T (p.Arg36Trp) single nucleotide variant Uncertain significance rs141495269 GRCh38 Chromosome 8, 31059162: 31059162
45 WRN NM_000553.4(WRN): c.106C> T (p.Arg36Trp) single nucleotide variant Uncertain significance rs141495269 GRCh37 Chromosome 8, 30916678: 30916678
46 WRN NM_000553.5(WRN): c.144A> G (p.Glu48=) single nucleotide variant Benign rs145959045 GRCh38 Chromosome 8, 31059200: 31059200
47 WRN NM_000553.5(WRN): c.144A> G (p.Glu48=) single nucleotide variant Benign rs145959045 GRCh37 Chromosome 8, 30916716: 30916716
48 WRN NM_000553.4(WRN): c.221C> T (p.Ser74Leu) single nucleotide variant Uncertain significance rs878854135 GRCh38 Chromosome 8, 31064300: 31064300
49 WRN NM_000553.4(WRN): c.221C> T (p.Ser74Leu) single nucleotide variant Uncertain significance rs878854135 GRCh37 Chromosome 8, 30921816: 30921816
50 WRN NM_000553.4(WRN): c.326G> A (p.Cys109Tyr) single nucleotide variant Uncertain significance rs142346721 GRCh37 Chromosome 8, 30921921: 30921921
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 66
Show member pathways
 13.27 BLM EXO1 FEN1 LMNA MRE11 NBN
2
DNA Double-Strand Break Repair 66
Show member pathways
 12.86 BLM EXO1 FEN1 MRE11 NBN POLB
3
Regulation of TP53 Activity 66
Show member pathways
 12.82 BLM EXO1 MRE11 NBN RPA1 WRN
4
Chks in Checkpoint Regulation 64
Show member pathways
 12.54 FEN1 LMNA MRE11 NBN POLB XRCC5
5
Cell Cycle Checkpoints 66
Show member pathways
 12.45 BLM EXO1 MRE11 NBN RPA1 WRN
6
Meiosis 66
Show member pathways
 12.34 BLM LMNA MRE11 NBN RPA1
7
Homologous DNA Pairing and Strand Exchange 66
Show member pathways
 12.14 BLM EXO1 MRE11 NBN RPA1 WRN
8
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) 66
Show member pathways
 11.92 BLM EXO1 MRE11 NBN RPA1 WRN
9
DNA Damage 4
11.87 BLM FEN1 LMNA MRE11 NBN RECQL
10
Immune response IL-2 activation and signaling pathway 22
Show member pathways
 11.76 MRE11 NBN XRCC5
11
Mismatch repair 37 66 1
Show member pathways
 11.7 EXO1 FEN1 RPA1
12
BRCA1 Pathway 64
Show member pathways
 11.65 BLM HELLS MRE11 NBN
13
Regulation of Telomerase 1
11.54 BLM MRE11 NBN WRN XRCC5
14
BARD1 signaling events 1
11.13 MRE11 NBN XRCC5
15
DDX1 as a regulatory component of the Drosha microprocessor 1
Show member pathways
 10.75 MRE11 NBN
16
DNA damage_NHEJ mechanisms of DSBs repair 22
10.73 FEN1 MRE11 NBN 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 11)
# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.93 BLM DHX9 FEN1 NBN WRN XRCC5
2 protein-containing complex GO:0032991 9.89 DHX9 FEN1 POLB VCP XRCC5
3 nuclear chromosome, telomeric region GO:0000784 9.72 FEN1 MRE11 NBN RPA1 XRCC5
4 PML body GO:0016605 9.67 BLM MRE11 NBN RPA1
5 site of double-strand break GO:0035861 9.61 MRE11 NBN VCP
6 replication fork GO:0005657 9.58 BLM NBN WRN
7 chromosome GO:0005694 9.56 BLM MRE11 NBN RECQL RECQL4 RECQL5
8 chromosome, telomeric region GO:0000781 9.55 BLM MRE11 NBN RECQL4 WRN
9 Mre11 complex GO:0030870 9.48 MRE11 NBN
10 nucleoplasm GO:0005654 9.47 BLM DHX9 EXO1 FEN1 LMNA MRE11
11 nucleus GO:0005634 10.16 BLM DHX9 EXO1 FEN1 HELLS LMNA

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 double-strand break repair GO:0006302 9.93 FEN1 MRE11 NBN VCP WRN XRCC5
2 telomere maintenance GO:0000723 9.91 MRE11 NBN RECQL4 RPA1 WRN XRCC5
3 DNA synthesis involved in DNA repair GO:0000731 9.89 BLM EXO1 MRE11 NBN WRN
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.88 EXO1 FEN1 MRE11 WRN
5 strand displacement GO:0000732 9.88 BLM EXO1 MRE11 NBN WRN
6 base-excision repair GO:0006284 9.88 FEN1 MRE11 POLB RECQL4 RPA1 WRN
7 meiotic cell cycle GO:0051321 9.81 EXO1 MRE11 NBN
8 t-circle formation GO:0090656 9.81 BLM EXO1 NBN WRN
9 DNA recombination GO:0006310 9.81 BLM EXO1 MRE11 RECQL RECQL4 RECQL5
10 double-strand break repair via nonhomologous end joining GO:0006303 9.79 MRE11 NBN XRCC5
11 positive regulation of type I interferon production GO:0032481 9.78 DHX9 MRE11 XRCC5
12 mitotic G2 DNA damage checkpoint GO:0007095 9.75 BLM MRE11 NBN
13 DNA double-strand break processing GO:0000729 9.74 BLM MRE11 NBN
14 telomeric D-loop disassembly GO:0061820 9.73 BLM RECQL4 WRN
15 DNA strand renaturation GO:0000733 9.72 BLM RECQL RECQL4
16 G-quadruplex DNA unwinding GO:0044806 9.71 BLM DHX9 WRN
17 replication fork processing GO:0031297 9.67 BLM WRN
18 DNA-dependent DNA replication GO:0006261 9.66 POLB RPA1
19 cellular response to gamma radiation GO:0071480 9.66 WRN XRCC5
20 telomere maintenance via semi-conservative replication GO:0032201 9.65 FEN1 RPA1
21 nucleotide-excision repair, DNA gap filling GO:0006297 9.65 POLB RPA1
22 positive regulation of protein autophosphorylation GO:0031954 9.65 MRE11 NBN
23 error-free translesion synthesis GO:0070987 9.64 RPA1 VCP
24 somatic hypermutation of immunoglobulin genes GO:0016446 9.64 EXO1 POLB
25 isotype switching GO:0045190 9.63 EXO1 NBN
26 cellular metabolic process GO:0044237 9.62 BLM WRN
27 positive regulation of telomere maintenance GO:0032206 9.62 MRE11 NBN
28 double-strand break repair via homologous recombination GO:0000724 9.61 BLM FEN1 MRE11 NBN RECQL RECQL4
29 cellular response to camptothecin GO:0072757 9.6 BLM RECQL5
30 telomeric 3 overhang formation GO:0031860 9.59 MRE11 NBN
31 DNA duplex unwinding GO:0032508 9.28 BLM DHX9 MRE11 NBN RECQL RECQL4
32 DNA repair GO:0006281 10.13 BLM EXO1 FEN1 MRE11 NBN POLB
33 cellular response to DNA damage stimulus GO:0006974 10.11 BLM EXO1 FEN1 MRE11 NBN POLB
34 regulation of signal transduction by p53 class mediator GO:1901796 10 BLM EXO1 MRE11 NBN RPA1 WRN
35 DNA replication GO:0006260 10 BLM DHX9 EXO1 FEN1 MRE11 NBN

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.95 BLM EXO1 FEN1 WRN
2 ATPase activity GO:0016887 9.92 BLM DHX9 VCP WRN
3 nuclease activity GO:0004518 9.88 EXO1 FEN1 MRE11 WRN
4 double-stranded DNA binding GO:0003690 9.87 DHX9 FEN1 MRE11 XRCC5
5 helicase activity GO:0004386 9.86 BLM DHX9 HELLS RECQL RECQL4 RECQL5
6 exonuclease activity GO:0004527 9.83 EXO1 FEN1 MRE11 WRN
7 single-stranded DNA binding GO:0003697 9.82 BLM DHX9 RPA1
8 endonuclease activity GO:0004519 9.8 EXO1 FEN1 MRE11
9 damaged DNA binding GO:0003684 9.8 FEN1 NBN POLB RPA1 XRCC5
10 DNA helicase activity GO:0003678 9.73 BLM RECQL RECQL5 WRN
11 ATP-dependent helicase activity GO:0008026 9.72 BLM RECQL RECQL4 RECQL5 WRN
12 annealing helicase activity GO:0036310 9.69 BLM RECQL RECQL4
13 bubble DNA binding GO:0000405 9.67 BLM RECQL4 WRN
14 3-5 exonuclease activity GO:0008408 9.65 MRE11 WRN
15 four-way junction DNA binding GO:0000400 9.65 BLM WRN
16 RNA-DNA hybrid ribonuclease activity GO:0004523 9.64 EXO1 FEN1
17 5-3 exonuclease activity GO:0008409 9.63 EXO1 FEN1
18 telomeric D-loop binding GO:0061821 9.63 BLM RECQL4 WRN
19 G-quadruplex DNA binding GO:0051880 9.61 BLM WRN
20 Y-form DNA binding GO:0000403 9.6 BLM WRN
21 8-hydroxy-2-deoxyguanosine DNA binding GO:1905773 9.59 BLM WRN
22 telomeric G-quadruplex DNA binding GO:0061849 9.58 BLM WRN
23 flap endonuclease activity GO:0048256 9.56 EXO1 FEN1
24 forked DNA-dependent helicase activity GO:0061749 9.55 BLM WRN
25 four-way junction helicase activity GO:0009378 9.55 BLM RECQL RECQL4 RECQL5 WRN
26 ATP-dependent DNA helicase activity GO:0004003 9.5 BLM DHX9 MRE11 NBN RECQL WRN
27 ATP-dependent 3-5 DNA helicase activity GO:0043140 9.1 BLM DHX9 RECQL RECQL4 RECQL5 WRN
28 protein binding GO:0005515 10.5 BLM DHX9 EXO1 FEN1 HELLS LMNA
29 DNA binding GO:0003677 10.22 BLM DHX9 EXO1 FEN1 MRE11 RECQL
30 ATP binding GO:0005524 10.19 BLM DHX9 HELLS RECQL RECQL4 RECQL5
31 hydrolase activity GO:0016787 10.11 BLM DHX9 EXO1 FEN1 HELLS MRE11
32 nucleic acid binding GO:0003676 10.08 BLM DHX9 RECQL RECQL5 RPA1 WRN
Sources

Sources for Werner Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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