BS
MCID: BLM001
MIFTS: 74

Bloom Syndrome (BS) malady

Eye, Skin, Fetal, Blood, Cancer, Immune categories

Summaries for Bloom Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Bloom syndrome is a disorder characterized by a significantly increased risk of cancer and various other features. signs and symptoms include short stature; sun-sensitive skin changes on the face, hands and/or arms; a high-pitched voice; and distinctive facial features including a long, narrow face, small lower jaw, large nose and prominent ears. some affected individuals may also have learning disabilities; an increased risk of diabetes; chronic obstructive pulmonary disease (copd); and recurrent infections of the upper respiratory tract, ears, and lungs during infancy. cancers may include any of those found in the general population, but develop much earlier in life in affected individuals. it is caused by mutations in the blm gene and is inherited in an autosomal recessive manner. treatment is generally symptomatic and supportive. last updated: 9/1/2011

MalaCards: Bloom Syndrome, also known as bloom's syndrome, is related to burkitt's lymphoma and werner syndrome, and has symptoms including dolichocephaly/scaphocephaly, narrow face and flat cheek bones/malar hypoplasia. An important gene associated with Bloom Syndrome is BLM (Bloom syndrome, RecQ helicase-like), and among its related pathways are Recruitment of repair and signaling proteins to double-strand breaks and Fanconi anemia pathway. The drug cyclophosphamide and the compounds 8-hydroxyadenine and l189 have been mentioned in the context of this disorder. Affiliated tissues include colon, liver and lung, and related mouse phenotypes are tumorigenesis and normal.

Genetics Home Reference:21 Bloom syndrome is an inherited disorder characterized by short stature, sun-sensitive skin changes, an increased risk of cancer, and other health problems.

Wikipedia:64 Bloom syndrome (in the literature, often abbreviated BS), also known as Bloom–Torre–Machacek... more...

Description from OMIM:47 210900

GeneReviews summary for bloom

Aliases & Classifications for Bloom Syndrome

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 19GeneReviews, 20GeneTests, 22GTR, 35MeSH, 40NCIt, 57SNOMED-CT, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Eye, Skin, Blood, Immune


Characteristics (Orphanet epidemiological data):

49
bloom syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

bloom syndrome 8 9 64 43 21 47 10 45 49 61
bloom's syndrome 19 20 22 21
bloom-torre-machacek syndrome 8 43 21
congenital telangiectatic erythema 43 21
blepharophimosis syndrome 19 61
blepharophimosis, ptosis, and epicanthus inversus 61
congenital telangiectatic erythema syndrome 8
burkitt lymphoma 61
bpes 19
blm 43
bls 43
bs 43


External Ids:

Disease Ontology8 DOID:2717
MeSH35 D001816
OMIM47 210900
NCIt40 C2903
SNOMED-CT57 4434006
ICD10 via Orphanet26 Q99.8, Q87.1
SNOMED-CT via Orphanet58 4434006
UMLS via Orphanet62 C0005859
MESH via Orphanet36 D001816

Related Diseases for Bloom Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Bloom Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 166)
idRelated DiseaseScoreTop Affiliating Genes
1burkitt's lymphoma31.5H2AFX, CDK1, TERF2, LIG1, PML
2werner syndrome31.0XRCC6, BRCA1, TERF2, FEN1, WRN, BLM
3fanconi's anemia30.6HELLS, BLM, CDK1, HPRT1, H2AFX, BRCA1
4ataxia telangiectasia30.4BRCA1, HPRT1, H2AFX, RAD51, TERF2, BLM
5stomach cancer30.2CDK1, BRCA1, TERF2
6xeroderma pigmentosum30.2LIG1, FEN1, HELLS, RECQL, RAD54L, HPRT1
7nijmegen breakage syndrome30.1H2AFX, BLM, LIG1, WRN, BRCA1, TERF2
8non-hodgkin lymphoma30.1PML, HPRT1, CDK1, TERF2
9adenocarcinoma30.0BRCA1, H2AFX, RAD51
10rothmund-thomson syndrome30.0RECQL4, WRN, BLM, RECQL, RECQL5, HELLS
11colorectal cancer30.0XRCC6, FEN1, UNG, WRN, CDK1, H2AFX
12blepharophimosis11.0
13blepharophimosis, ptosis, and epicanthus inversus syndrome11.0
14blepharophimosis, ptosis, and epicanthus inversus syndrome type 110.8
15blepharophimosis, ptosis, and epicanthus inversus syndrome type 210.8
16n syndrome10.7
17diffuse large b-cell lymphoma10.6
18lymphoma, diffuse large cell10.6
19b-cell lymphomas10.5
20lymphoblastic lymphoma10.5
21brachydactyly10.4
22microcephaly10.4
23premature menopause10.4
24strabismus10.4
25cant� syndrome10.4
26ptosis, congenital10.4
27hypogonadism, hypergonadotropic10.4
28fanconi syndrome10.4
29micro syndrome10.4
30pediatric lymphoma10.4
31adult lymphoma10.4
32char syndrome10.3
33ataxia10.3
34lymphosarcoma10.3
35intussusception10.3
36conn's syndrome10.3
37acute leukemia10.3
38wilms tumor10.3
39mutagen sensitivity10.2
40breast cancer susceptibility10.2
41central nervous system lymphoma10.2
42gastric lymphoma10.2
43lung lymphoma10.2
44acquired immunodeficiency syndrome10.2
45plasmodium falciparum malaria10.2
46williams syndrome10.2
47borderline leprosy10.2
48blepharophimosis intellectual disability syndromes10.2
49west syndrome10.2
50short syndrome10.2

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



Diseases related to bloom syndrome

Clinical Features for Bloom Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

210900

Clinical synopsis from OMIM:

210900

Symptoms:

49 (show all 40)
  • dolichocephaly/scaphocephaly
  • narrow face
  • flat cheek bones/malar hypoplasia
  • anomalies of nose and olfaction
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • anomalies of skin, subcutaneous tissue and mucosae
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • irregular/in bands/reticular skin hyperpigmentation
  • acute diarrhea
  • repeat respiratory infections
  • delayed bone age
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • neoplasms/tumors
  • autosomal recessive inheritance
  • chromosome breakage
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • face/facial anomalies
  • hypoplastic mandibula/partial absence of the mandibula
  • short/small nose
  • skin photosensitivity
  • telangiectasiae of the skin
  • abnormal cry/voice/phonation disorder/nasal speech
  • microcephaly
  • anodontia/oligodontia/hypodontia
  • prominent/bat ears
  • sacral sinus/dimple
  • syndactyly of fingers/interdigital palm
  • upper limb polydactyly/hexadactyly
  • hyperhidrosis/increased sweating
  • ichthyosis/ichthyosiform dermatitis
  • irregular/patchy skin hypopigmentation
  • skin tumors/lumps/epidermal cysts
  • sterility/hypofertility
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • digestive neoplasm/tumor/carcinoma/cancer
  • lymphoma
  • acute leukemia
  • failure to thrive/difficulties for feeding in infancy/growth delay

Drugs & Therapeutics for Bloom Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Bloom Syndrome

Drug clinical trials:

Search ClinicalTrials for Bloom Syndrome

Search NIH Clinical Center for Bloom Syndrome

Search CenterWatch for Bloom Syndrome

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Bloom Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Bloom Syndrome:

id Genetic test Affiliating Genes
1 Bloom's Syndrome20 BLM
2 Bloom Syndrome22

Anatomical Context for Bloom Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Bloom Syndrome:

33
Colon, Liver, Lung, Breast, Skin, Myeloid, T cells, B lymphoblasts, B cells

Animal Models for Bloom Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Bloom Syndrome

Sources:
51PubMed
See all sources

Articles related to Bloom Syndrome:

(show top 50)    (show all 286)
idTitleAuthorsYear
1
Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. (23509288)
2013
2
Proton beam therapy for malignancy in Bloom syndrome. (23443610)
2013
3
Defining the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome. (22392978)
2012
4
Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome. (21712816)
2011
5
Depletion of the bloom syndrome helicase stimulates homology-dependent repair at double-strand breaks in human chromosomes. (21300576)
2011
6
Interhomolog recombination and loss of heterozygosity in wild-type and Bloom syndrome helicase (BLM)-deficient mammalian cells. (21730139)
2011
7
Structure and cellular roles of the RMI core complex from the bloom syndrome dissolvasome. (20826341)
2010
8
More complexity to the Bloom's syndrome complex. (18923071)
2008
9
Lens opacities in Bloom syndrome: case report and review of the literature. (17896317)
2007
10
Differential expression of Werner and Bloom syndrome genes in the peripheral blood of HIV-1 infected patients. (17321898)
2007
11
The Werner and Bloom syndrome proteins catalyze regression of a model replication fork. (17115688)
2006
12
The Bloom's syndrome helicase can promote the regression of a model replication fork. (16766518)
2006
13
Enhanced gene targeting efficiency by siRNA that silences the expression of the Bloom syndrome gene in human cells. (16611240)
2006
14
Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer. (16501249)
2006
15
Structural and functional characterizations reveal the importance of a zinc binding domain in Bloom's syndrome helicase. (15930159)
2005
16
The Bloom's syndrome helicase suppresses crossing over during homologous recombination. (14685245)
2003
17
Expression of BLM (the causative gene for Bloom syndrome) and screening of Bloom syndrome. (12060858)
2002
18
Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM. (12034743)
2002
19
The Bloom's syndrome helicase stimulates the activity of human topoisomerase IIIalpha. (12433984)
2002
20
Protecting genomic integrity during DNA replication: correlation between Werner's and Bloom's syndrome gene products and the MRE11 complex. (12351580)
2002
21
Sterility of Drosophila with mutations in the Bloom syndrome gene--complementation by Ku70. (11283371)
2001
22
Role of the Bloom's syndrome helicase in maintenance of genome stability. (11356154)
2001
23
The Bloom's and Werner's syndrome proteins are DNA structure-specific helicases. (11433031)
2001
24
Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome. (10862105)
2000
25
Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews. (10090915)
1999
26
Localization of the Bloom syndrome helicase to punctate nuclear structures and the nuclear matrix and regulation during the cell cycle: comparison with the Werner's syndrome helicase. (10569803)
1999
27
Experience treating a patient with Bloom syndrome and acute myelogenous leukemia. (9544230)
1998
28
Differential expression of p53, p21waf1/cip1 and hdm2 dependent on DNA damage in Bloom's syndrome fibroblasts. (9886565)
1998
29
The coding region of the Bloom syndrome BLM gene and of the CBL proto-oncogene is mutated in genetically unstable sporadic gastrointestinal tumors. (9731483)
1998
30
A case of Bloom syndrome with conjunctival telangiectasia. (9144698)
1997
31
Correction of the Bloom syndrome cellular phenotypes. (9546074)
1997
32
Stability of microsatellites and minisatellites in Bloom syndrome, a human syndrome of genetic instability. (8637501)
1996
33
Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1. (8661112)
1996
34
Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome. (8079989)
1994
35
Bloom's Syndrome (20301572)
1993
36
Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome. (1279391)
1992
37
Bloom syndrome: a single complementation group defines patients of diverse ethnic origin. (3163468)
1988
38
Immunological lesions in human uracil DNA glycosylase: association with Bloom syndrome. (3353381)
1988
39
Cell cycle rate and sister chromatid exchange profile in polyethylene glycol-exposed/unexposed Bloom syndrome and normal cells. A co-culture study. (3570291)
1987
40
DNA ligase I deficiency in Bloom's syndrome. (3808031)
1987
41
Different properties in lymphoblastoid cell lines from patients with Bloom syndrome. (6099120)
1984
42
Corrective factor of Bloom syndrome: identity and relevance. (6505481)
1984
43
Sensitivity of Bloom syndrome fibroblasts to mitomycin C. (6429525)
1984
44
Effect of poly(ADP-ribose)polymerase inhibitors on the frequency of sister-chromatid exchanges in Bloom syndrome cells. (6318100)
1983
45
Analyses of bromodeoxyuridine-associated sister chromatid exchanges (SCEs) in Bloom syndrome based on cell fusion: single and twin SCEs in endoreduplication. (6308619)
1983
46
Transformation of Bloom syndrome T-lymphocytes by cocultivation with a lethally irradiated human T-cell line carrying type C virus particles. (6305751)
1983
47
The effect of aphidicolin on the rate of DNA replication and unscheduled DNA synthesis of Bloom syndrome and normal fibroblasts. (6809595)
1982
48
12-O-tetradecanoylphorbol 13-acetate-inducible proteins are synthesized at an increased rate in Bloom syndrome fibroblasts. (6961458)
1982
49
Frequency of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by cocultivation with normal cells. (437776)
1979
50
Immune responses in four patients with Bloom syndrome. (421370)
1979

Genetic Variations for Bloom Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Bloom Syndrome:

63
id Symbol AA change Variation SNP ID
1BLMp.Gln672ArgVAR_006901
2BLMp.Thr843IleVAR_006902
3BLMp.Cys1055SerVAR_006903
4BLMp.Gly891GluVAR_009138
5BLMp.Cys901TyrVAR_009139
6BLMp.Cys1036PheVAR_009140
7BLMp.Ile841ThrVAR_016032
8BLMp.Cys878ArgVAR_016033

Expression for genes affiliated with Bloom Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Bloom Syndrome

Search GEO for disease gene expression data for Bloom Syndrome.

Pathways for genes affiliated with Bloom Syndrome

Sources:
54Reactome, 30KEGG, 52QIAGEN, 38NCBI BioSystems Database, 12EMD Millipore, 4Cell Signaling Technology
See all sources

Pathways related to Bloom Syndrome according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4H2AFX, BRCA1
210.4BRCA1, BLM, RAD51
3
Hide members
10.4LIG1, LIG3, POLD4
4
Hide members
10.4POLD4, LIG1, FEN1
5
Hide members
10.4RAD51, XRCC6, BRCA1
6
Hide members
10.4CDK1, BLM, BRCA1
7
DNA damage Role of Brca1 and Brca2 in DNA repair
Hide members
10.4BRCA1, H2AFX, RAD51
810.4RAD51, H2AFX, BRCA1
9
Hide members
10.3POLD4, BLM, RAD51, RAD54L
1010.3BRCA1, HELLS, BLM, RAD51
1110.3TERF2, BLM, WRN, XRCC6
12
Hide members
10.3BRCA1, XRCC6, FEN1, WRN
13
Hide members
10.3FEN1, LIG1, POLD4, H2AFX
1410.3PML, BRCA1, BLM, RAD51, RAD54L
15
Hide members
10.3FEN1, UNG, LIG1, LIG3, POLD4
1610.3PML, BRCA1, WRN, LIG1, BLM, RAD51
17
Hide members
10.3BRCA1, XRCC6, LIG1, H2AFX, RAD51
18
Hide members
10.3BRCA1, FEN1, LIG1, LIG3, POLD4, RAD51
19
Hide members
10.3RAD51, H2AFX, CDK1, BRCA1, PML
2010.3BRCA1, LIG3, BLM, CDK1, RAD51, RAD54L
21
Hide members
10.3FEN1, LIG1, POLD4, CDK1, H2AFX
2210.2BRCA1, FEN1, WRN, LIG1, POLD4, CDK1
23
Hide members
10.2BRCA1, FEN1, LIG1, POLD4, BLM, H2AFX
24
Hide members
10.2BRCA1, XRCC6, FEN1, LIG1, LIG3, POLD4
25
Hide members
10.2BRCA1, FEN1, LIG1, POLD4, CDK1, H2AFX
26
Hide members
10.0TERF2, BRCA1, XRCC6, FEN1, WRN, BLM

Compounds for genes affiliated with Bloom Syndrome

Sources:
45Novoseek, 60Tocris Bioscience, 24HMDB, 11DrugBank, 50PharmGKB, 29IUPHAR, 2BitterDB
See all sources

Compounds related to Bloom Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
18-hydroxyadenine4510.8WRN, HELLS
2l1896010.8LIG1, LIG3
3polynucleotide4510.8RAD51, UNG, LIG3, WRN, LIG1
48-oxoguanine4510.8HELLS, HPRT1, BRCA1, WRN
5thymine45 2411.8UNG, HPRT1, HELLS, RAD51
6adozelesin4510.7HPRT1, H2AFX
7bpde4510.7HPRT1, CDK1, BRCA1
8benzo(a)pyrene4510.7HPRT1, BRCA1, H2AFX, HELLS
9nucleoside4510.7HELLS, UNG, HPRT1, LIG1
10adenine45 11 2412.7HPRT1, UNG, HELLS, BRCA1, RAD51
11mitomycin c4510.7BRCA1, RAD51, H2AFX, HPRT1, XRCC6
12adpribose4510.7TERF2, LIG3, LIG1, BRCA1, CDK1
13caffeine45 50 29 2 11 2415.7BRCA1, LIG1, CDK1, H2AFX, RAD51
14guanine45 11 2412.7UNG, RAD51, BRCA1, HPRT1, CDK1
15thymidylate4510.7BRCA1, RAD51, HELLS, HPRT1, CDK1, UNG
16mgcl24510.7UNG, HELLS
17bleomycin45 1111.7H2AFX, HPRT1, BRCA1, XRCC6, LIG3, LIG1
18oxaliplatin45 50 1112.7CDK1, HPRT1, BRCA1
19aphidicolin4510.7H2AFX, BRCA1, UNG, CDK1, HPRT1, RAD51
20arsenite45 2411.7PML, CDK1, H2AFX, TERF2, LIG3
21nacl4510.6HELLS, UNG, H2AFX, RAD51
22magnesium45 11 2412.6HELLS, RAD51, RECQL, WRN, HPRT1, FEN1
23diepoxybutane4510.6BRCA1, HPRT1
24glutamine4510.6XRCC6, HELLS, PML, BRCA1, HPRT1
25hydrogen45 2411.6RAD51, UNG, HELLS, BRCA1, CDK1
26doxorubicin45 50 1112.6HELLS, H2AFX, CDK1, XRCC6, BRCA1
27polyacrylamide4510.6HELLS, UNG, RAD51, BRCA1
28oligonucleotide4510.6FEN1, UNG, BRCA1, LIG1, TERF2, RAD51
295fluorouracil4510.6CDK1, BRCA1, FEN1, UNG
30hydroxyurea45 50 1112.6BLM, RAD51, H2AFX, CDK1, WRN, HELLS
31irinotecan45 50 1112.6WRN, H2AFX, CDK1
32etoposide45 50 60 1113.6RAD51, HPRT1, PML, XRCC6, H2AFX, LIG1
33thymidine45 2411.6UNG, CDK1, RAD51, HPRT1, BRCA1
34camptothecin45 60 1112.6PML, BRCA1, WRN, XRCC6, LIG3, RAD51
35h2o24510.6RAD51, HELLS, RECQL4, HPRT1, WRN, CDK1
36arginine4510.6WRN, HELLS, FEN1, RAD51, HPRT1, H2AFX
37alanine4510.6CDK1, LIG1, FEN1, XRCC6, RAD51, BRCA1
38atp45 2911.5FEN1, BLM, BRCA1, HELLS, RECQL, CDK1
39pyrophosphate45 2411.5LIG1, LIG3, HPRT1, UNG
40methylmethanesulfonate4510.5HPRT1, LIG3, BRCA1, HELLS, XRCC6, CDK1
41dttp4510.5UNG, HELLS
42gemcitabine45 50 1112.5RAD51, H2AFX, BRCA1
43cisplatin45 50 60 1113.5RAD51, LIG1, H2AFX, CDK1, WRN, HPRT1
44cysteine4510.5PML, RAD51, BRCA1, HPRT1, HELLS, WRN
45retinoic acid45 2411.5PML, BRCA1, HELLS, TERF2, FEN1, CDK1
46purine45 2411.4HELLS, HPRT1, CDK1
47amsacrine45 1111.4RAD51, CDK1
48cytosine45 2411.4BRCA1, UNG, RAD51
497-hydroxystaurosporine45 1111.3CDK1, H2AFX
50serine459.9HELLS, CDK1, XRCC6, BRCA1, HPRT1, H2AFX

GO Terms for genes affiliated with Bloom Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Bloom Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1lateral elementGO:00080010.6RAD51, BLM
2nuclear telomere cap complexGO:00078310.6TERF2, XRCC6
3chromosome, telomeric regionGO:00078110.6TERF2, H2AFX, BLM
4chromosomeGO:00569410.5BRCA1, LIG3, LIG1
5PML bodyGO:01660510.5RAD51, BLM, PML
6replication forkGO:00565710.4BLM, H2AFX
7mitochondrionGO:00573910.3FEN1, UNG, LIG1, LIG3, RAD51, CDK1
8nucleoplasmGO:00565410.2CDK1, XRCC6, POLD4, TERF2, RAD51, LIG3
9nucleolusGO:00573010.1RECQL5, PML, FEN1, WRN, BLM, RECQL
10male germ cell nucleusGO:00167310.1H2AFX, BLM
11nucleusGO:00563410.0WRN, UNG, FEN1, HELLS, BRCA1, PML

Biological processes related to Bloom Syndrome according to GeneCards/GeneDecks:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1V(D)J recombinationGO:03315110.7LIG3, LIG1, XRCC6
2DNA strand renaturationGO:00073310.7BLM, RECQL, RECQL4, RAD54L
3double-strand break repair via nonhomologous end joiningGO:00630310.7LIG3, LIG1, XRCC6
4DNA duplex unwindingGO:03250810.7RECQL5, RECQL4, RECQL, WRN
5telomere maintenance via semi-conservative replicationGO:03220110.6FEN1, LIG1, POLD4
6DNA metabolic processGO:00625910.6RECQL5, LIG1, WRN
7base-excision repairGO:00628410.6FEN1, UNG, WRN, LIG1, LIG3, POLD4
8response to ionizing radiationGO:01021210.6BRCA1, XRCC6, H2AFX, RAD54L
9cellular response to camptothecinGO:07275710.6RAD51, BLM
10telomere maintenance via recombinationGO:00072210.6FEN1, LIG1, POLD4
11double-strand break repair via homologous recombinationGO:00072410.6BRCA1, LIG1, BLM, H2AFX, RAD51, RAD54L
12response to DNA damage stimulusGO:00697410.6BRCA1, WRN, BLM, H2AFX, RAD51
13DNA strand elongation involved in DNA replicationGO:00627110.6POLD4, LIG1, FEN1
14DNA recombinationGO:00631010.6WRN, BLM, RECQL, RECQL4, RECQL5, RAD51
15telomere maintenanceGO:00072310.6XRCC6, FEN1, WRN, LIG1, POLD4, BLM
16lagging strand elongationGO:00627310.6LIG3, LIG1
17double-strand break repairGO:00630210.6BRCA1, XRCC6, FEN1, WRN, LIG1, H2AFX
18DNA replicationGO:00626010.5FEN1, WRN, POLD4, CDK1, RECQL, RECQL4
19lymphocyte proliferationGO:04665110.5HPRT1, HELLS
20meiosisGO:00712610.5H2AFX, RAD51, RAD54L
21cell divisionGO:05130110.5HELLS, LIG1, LIG3, CDK1, RECQL5
22DNA ligation involved in DNA repairGO:05110310.5LIG3, LIG1
23negative regulation of DNA recombinationGO:04591010.4BLM, LIG3
24cellular senescenceGO:09039810.4TERF2, PML
25DNA repairGO:00628110.3RAD54L, BRCA1, XRCC6, FEN1, UNG, LIG1
26nucleotide-excision repairGO:00628910.3LIG1, LIG3, POLD4
27replication fork processingGO:03129710.1BLM, WRN

Molecular functions related to Bloom Syndrome according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1ATP-dependent 3-5 DNA helicase activityGO:04314010.7WRN, BLM, RECQL4, RECQL
2bubble DNA bindingGO:00040510.7RECQL4, WRN, BLM
3ATP-dependent DNA helicase activityGO:00400310.6XRCC6, WRN, BLM, RECQL
4four-way junction helicase activityGO:00937810.6WRN, BLM
5helicase activityGO:00438610.6RAD54L, BLM, WRN, HELLS
6G-quadruplex DNA bindingGO:05188010.6BLM, WRN
7DNA helicase activityGO:00367810.6WRN, RECQL, RECQL5
8damaged DNA bindingGO:00368410.5FEN1, H2AFX, RAD51, XRCC6
9DNA ligase (ATP) activityGO:00391010.5LIG1, LIG3
10DNA ligase activityGO:00390910.5LIG1, LIG3
11annealing helicase activityGO:03631010.4BLM, RAD54L
12exonuclease activityGO:00452710.4WRN, FEN1
13DNA bindingGO:00367710.3RECQL, PML, FEN1, RAD54L, H2AFX, LIG3
14ATP bindingGO:00552410.3RAD54L, XRCC6, WRN, LIG1, LIG3, BLM
15double-stranded telomeric DNA bindingGO:00369110.3XRCC6, TERF2
16protein bindingGO:00551510.1BRCA1, HPRT1, RECQL, H2AFX, RAD51, RAD54L
17double-stranded DNA bindingGO:00369010.1XRCC6, FEN1, RAD51

Products for genes affiliated with Bloom Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bloom Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet