Bloom Syndrome malady

NIH Rare Diseases: 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.³⁰

MalaCards: Bloom Syndrome, also known as congenital telangiectatic erythema, is related to fanconi's anemia and non-hodgkin lymphoma. An important gene associated with Bloom Syndrome is BLM (Bloom syndrome, RecQ helicase-like), and among its related pathways are Base excision repair and DNA damage_NHEJ mechanisms of DSBs repair. The compounds polynucleotide and 8-oxoguanine have been mentioned in the context of this disorder. Affiliated tissues include colon, lung and breast, and related mouse phenotypes are craniofacial and endocrine/exocrine gland.

Genetics Home Reference: Bloom syndrome is an inherited disorder characterized by short stature, sun-sensitive skin changes, an increased risk of cancer, and other health problems.¹⁷

Wikipedia: Bloom syndrome (in the literature, most often abbreviated Bs), also known as Bloom–Torre–Machacek...⁴⁴ more...

OMIM: 210900

GeneReviews summary for bloom

Aliases & Descriptions:

bloom syndrome 6 7 44 30 17 8 33 32 43 congenital telangiectatic erythema 30 17 bloom-torre-machacek syndrome 6 30 bloom's syndrome 15 16 growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability 30

congenital telangiectatic erythema syndrome 6 neonatal hemochromatosis 43 bls 30 blm 30 bs 30

Diseases related to bloom syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 374)

id	Related Disease	Score	Top Affiliating Genes
1	fanconi's anemia	30.2	BRCA2, BRIP1, FANCA, FANCL, FANCE, FANCF
2	non-hodgkin lymphoma	29.7	LBR, ATM, CDK1, HPRT1, ERCC2, TERF2
3	rothmund-thomson syndrome	29.6	RECQL, RECQL4, RECQL5, BLM, HELLS, TOP3A
4	breast cancer	29.4	RAD51, CHEK2, ATM
5	fanconi anemia, complementation group m	29.0	BLM, FANCA, FANCL, FANCE, FANCF, FANCC
6	mutagen sensitivity	28.9	BRCA1, BRCA2, BLM, FANCG, ERCC2, TP53
7	mayer-rokitansky-kuster-hauser syndrome	28.9	RECQL4, BLM, MLH1, FEN1, HELLS, WRN
8	burkitt's lymphoma	27.9	BRCA2, LIG1, CHEK2, BAX, LBR, MSH6
9	ovarian cancer	27.9	BRCA1, BRCA2, CHEK2, ATR, CDK1
10	nijmegen breakage syndrome	26.6	BRCA1, RAD51, RAD52, RAD17, LIG1, BLM
11	werner syndrome	26.2	RECQL, RECQL4, RECQL5, BRCA1, RAD51, RAD52
12	ataxia telangiectasia	25.6	BRCA1, BRCA2, RAD51, RAD17, LIG1, BLM
13	malaria	25.5	RECQL, RAD51, RAD54L, LIG1, BLM, UNG
14	neurofibromatosis	25.5	BRCA1, BRCA2, MSH6, MLH1, TP53, PRKAR1A
15	twinning	25.2	BRCA1, BRCA2, FANCA, HPRT1, ERCC2, TP53
16	breast cancer susceptibility	25.2	BRCA1, BRCA2, BRIP1, RAD51, RAD52, BLM
17	hodgkin's lymphoma	24.7	BRCA1, BLM, CHEK2, BAX, LBR, MSH6
18	adenomatous polyposis coli	24.7	MLH1, FEN1, CASP3, TP53, H2AFX
19	ataxia	24.4	BRCA1, BRCA2, RAD51, RAD17, LIG3, LIG1
20	lung carcinoma	24.3	RAD9A, CHEK2, BAX, XRCC6, ATM, CDK1
21	b-cell lymphomas	24.1	BRCA1, BRCA2, CHEK2, BAX, LBR, XRCC2
22	neurodegeneration	23.8	CHEK2, BAX, ATM, CDK1, CASP3, TP53
23	systemic lupus erythematosus	23.8	BAX, LBR, XRCC6, MSH6, MLH1, FEN1
24	lupus erythematosus	23.8	BAX, LBR, XRCC6, MSH6, MLH1, FEN1
25	colon carcinoma	23.5	BRCA1, RAD17, CHEK2, BAX, XRCC6, MSH6
26	polyposis	23.4	BRCA1, BRCA2, BAX, MSH6, ATM, MLH1
27	meningioma	23.3	RECQL4, BRCA2, BRIP1, RAD52, RAD51B, RAD54L
28	anemia	23.3	BRCA1, BRCA2, BRIP1, RAD51, RAD51B, RAD51D
29	chronic myeloid leukemia	23.3	BRCA1, LIG3, LIG1, BAX, CDK1, MLH1
30	squamous cell carcinoma	23.1	CHEK2, BAX, XRCC6, CDK1, MLH1, FANCA
31	ovarian carcinoma	23.0	BRCA1, BRCA2, RAD51, RAD52, CHEK2, BAX
32	hepatocellular carcinoma	22.6	RECQL, BRCA2, RAD51, BAX, XRCC6, MSH6
33	colon cancer	22.6	BRCA1, BRCA2, BRIP1, RAD51, BLM, UNG
34	immunodeficiency	22.6	RECQL4, BRCA1, RAD51, RAD17, RAD54L, LIG1
35	osteosarcoma	22.6	RECQL4, BRCA1, UNG, CHEK2, BAX, ATRX
36	hepatitis	22.6	RAD51, BLM, CHEK2, BAX, LBR, XRCC6
37	tuberculosis	22.4	RAD51, RAD54L, LIG3, LIG1, UNG, BAX
38	myeloid leukemia	22.2	BRCA1, BRCA2, RAD51, LIG3, LIG1, CHEK2
39	hepatitis c	22.2	CHEK2, BAX, LBR, XRCC6, ATR, ATM
40	melanoma	22.1	BRCA1, BRCA2, CHEK2, BAX, LBR, XRCC6
41	colorectal cancer	21.8	BRCA1, BRCA2, RAD51, LIG3, LIG1, BLM
42	pulmonary disease	21.7	BRCA1, BRCA2, BRIP1, RAD51, RAD52, RAD54L
43	acute myeloid leukemia	21.5	BRCA1, BRCA2, RAD51, CHEK2, BAX, XRCC2
44	thyroiditis	21.4	RAD51, RAD52, RAD9A, LIG3, BAX, LBR
45	chronic lymphocytic leukemia	21.3	BRCA2, RAD51, RAD52, RAD54L, CHEK2, BAX
46	lymphocytic leukemia	20.8	BRCA2, RAD51, RAD52, RAD54L, CHEK2, BAX
47	gastric cancer	20.6	BRCA1, BRCA2, RAD51, LIG3, BLM, CHAF1A
48	prostatitis	19.8	RECQL4, BRCA1, BRCA2, BRIP1, RAD51, RAD52
49	esophagitis	19.6	BRCA1, BRCA2, RAD51, RAD52, LIG3, LIG1
50	adenocarcinoma	19.5	RECQL, BRCA1, BRCA2, RAD51, RAD52, RAD54L

Clinical features from OMIM: 210900

Approved drugs:

Drug clinical trials:

Genetic tests related to bloom syndrome:

id	Genetic test	Affiliating Genes
1	Bloom Syndrome clinical/research	BLM

MalaCards organs/tissues related to bloom syndrome:

²²

MGI Mouse Phenotypes related to bloom syndrome:

²⁵ (show all 19)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial phenotype	MP:0005382	9.2	PRKAR1A, ERCC3, HPRT1, ATR, XRCC2, LBR
2	endocrine/exocrine gland phenotype	MP:0005379	8.9	HPRT1, DMC1, H2AFX, PRKAR1A, CSDA, WRN
3	adipose tissue phenotype	MP:0005375	8.7	WRN, RMI1, PRKAR1A, HELLS, TP53, ERCC2
4	pigmentation phenotype	MP:0001186	8.4	PRKAR1A, HELLS, TP53, ERCC2, HPRT1, CASP3
5	limbs/digits/tail phenotype	MP:0005371	8.3	HELLS, TP53, XRCC2, LBR, BAX, RAD51D
6	digestive/alimentary phenotype	MP:0005381	7.6	HPRT1, TP53, SUMO1, PRKAR1A, WRN, CASP3
7	integument phenotype	MP:0010771	7.2	APRT, HPRT1, ERCC2, ERCC3, TP53, HELLS
8	skeleton phenotype	MP:0005390	7.2	ERCC2, TP53, HELLS, PRKAR1A, WRN, CASP3
9	embryogenesis phenotype	MP:0005380	6.4	BLM, CHAF1A, XRCC2, ATRX, ATR, ATM
10	tumorigenesis	MP:0002006	6.3	BRCA2, RAD52, RAD9A, LIG1, BLM, UNG
11	hematopoietic system phenotype	MP:0005397	5.7	APRT, FANCA, FANCC, FANCM, CASP3, HPRT1
12	immune system phenotype	MP:0005387	5.5	APRT, FANCC, CASP3, HPRT1, ERCC2, TP53
13	behavior/neurological phenotype	MP:0005386	5.3	CASP3, HPRT1, ERCC2, ERCC3, TP53, HELLS
14	nervous system phenotype	MP:0003631	5.2	ATM, FEN1, GNG7, CASP3, HPRT1, ERCC2
15	growth/size phenotype	MP:0005378	4.9	HPRT1, CASP3, FANCL, FANCA, APRT, FEN1
16	reproductive system phenotype	MP:0005389	4.4	HPRT1, CASP3, FANCM, FANCG, FANCC, ERCC2
17	mortality/aging	MP:0010768	4.2	FANCL, FANCM, GNG7, HPRT1, ERCC3, TP53
18	homeostasis/metabolism phenotype	MP:0005376	4.2	CASP3, GNG7, FANCL, APRT, FEN1, MLH1
19	cellular phenotype	MP:0005384	1.9	RECQL, XRCC6, MSH6, ATRX, ATR, ATM

Articles related to bloom syndrome:

(show top 50)    (show all 122)

id	Title	Authors	Year	Affiliating Genes
1	Depletion of the bloom syndrome helicase stimulates h omology-dependent repair at double-strand breaks in human chromosomes. (21300576)	Wang Y.... Waldman A.S.	2011	BLM
2	Critical interaction domains between bloom syndrome p rotein and RAD51. (21113733)	Bergeron K.L.... Almeida K.H.	2011	RAD51, BLM
3	Augmented cell death with Bloom syndrome helicase def iciency. (21567087)	Kaneko H.... Kondo N.	2011	BLM
4	Solution structure of the HRDC domain of human Bloom syndrome protein BLM. (20739603)	Sato A.... Kitano K.	2010	BLM
5	Bloom syndrome helicase stimulates RAD51 DNA strand e xchange activity through a novel mechanism. (19632996)	Bugreev D.V.... Mazin A.V.	2009	RAD51, BLM, HELLS
6	Loss of Bloom syndrome protein destabilizes human gen e cluster architecture. (19542097)	Killen M.W.... Pierce A.J.	2009	BLM, WRN
7	RMI, a new OB-fold complex essential for Bloom syndrome protein to maintain genome stability. (18923082)	Xu D.... Wang W.	2008	BLM, TOP3A, RMI1
8	Three new BLM gene mutations associated with Bloom syndrome. (18471088)	Amor-Gueret M.... Stoppa-Lyonnet D.	2008	BLM
9	Protein kinase A subunit expression is altered in Bloom syndrome fibroblasts and the BLM protein is increased in adrenocortical hyperplasias: inverse findings for BLM and PRKAR1A. (18401830)	Heyerdahl S.L.... Stratakis C.A.	2008	BLM, PRKAR1A
10	Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. (17407155)	German J.... Ellis N.A.	2007	BLM
11	Endogenous gamma-H2AX-ATM-Chk2 checkpoint activation in Bloom's syndrome helicase deficient cells is related to DNA replication arrested forks. (17634426)	Rao V.A.... Pommier Y.	2007	CHEK2, ATM, BLM
12	Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein. (17878217)	Guo R.B.... Xi X.G.	2007	BLM, HELLS
13	Competition between the DNA unwinding and strand pairing activities of the Werner and Bloom syndrome proteins. (16412221)	Machwe A.... Orren D.K.	2006	BLM, WRN
14	Physical and functional mapping of the replication protein a interaction domain of the werner and bloom syndrome helicases. (15965237)	Doherty K.M.... Brosh R.M.	2005	BLM, RPA1, WRN
15	Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development. (15726604)	Koren-Michowitz M.... Amariglio N.	2005	BLM, BRCA1, BRCA2
16	BLAP75, an essential component of Bloom's syndrome protein complexes that maintain genome integrity. (15775963)	Yin J.... Wang W.	2005	BLM, TOP3A, RMI1
17	Multiple genetic pathways involving the Caenorhabditis elegans Bloom's syndrome genes him-6, rad-51, and top-3 are needed to maintain genome stability in the germ line. (15143192)	Wicky C.... MA1ller F.	2004	RAD51
18	Expression of Werner and Bloom syndrome genes is differentially regulated by in vitro HIV-1 infection of peripheral blood mononuclear cells. (15498034)	Bordi L.... Capobianchi M.R.	2004	BLM, WRN, LBR
19	The Bloom's syndrome helicase suppresses crossing over during homologous recombination. (14685245)	Wu L.... Hickson I.D.	2003	BLM
20	The human Bloom syndrome gene suppresses the DNA replication and repair defects of yeast dna2 mutants. (12826610)	Imamura O.... Campbell J.L.	2003	BLM
21	Characterization and mutational analysis of the RecQ core of the bloom syndrome protein. (12818200)	Janscak P.... Bickle T.A.	2003	BLM
22	Telomere and ribosomal DNA repeats are chromosomal targets of the bloom syndrome DNA helicase. (14577841)	Schawalder J.... Neff N.F.	2003	BLM
23	Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM. (12034743)	Beamish H.... Lavin M.F.	2002	ATM, BLM
24	Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel. (11876000)	Peleg L.... Barkai G.	2002	BLM, FANCC
25	The Bloom's syndrome helicase stimulates the activity of human topoisomerase IIIalpha. (12433984)	Wu L.... Hickson I.D.	2002	BLM, TOP3A
26	Protecting genomic integrity during DNA replication: correlation between Werner's and Bloom's syndrome gene products and the MRE11 c omplex. (12351580)	Franchitto A.... Pichierri P.	2002	HELLS
27	Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases. (12181313)	Opresko P.L.... Bohr V.A.	2002	BLM, RPA1, WRN
28	Role of the Bloom's syndrome helicase in maintenance of genome stability. (11356154)	Hickson I.D.... Wu L.	2001	WRN
29	Cleavage of the Bloom's syndrome gene product during apoptosis by caspase-3 results in an impaired interaction with topoisomerase IIIalpha. (11470874)	Freire R.... Jackson S.P.	2001	CASP3, BLM, MLH1
30	Sterility of Drosophila with mutations in the Bloom syndrome gene--complementation by Ku70. (11283371)	Kusano K.... Engels W.R.	2001	HELLS
31	Regulation and localization of the Bloom syndrome protein in response to DNA damage. (11309417)	Bischof O.... Campisi J.	2001	RAD51, BLM, RPA2
32	Somatic frameshift mutations in the Bloom syndrome BLM gene are frequent in sporadic gastric carcinomas with microsatellite mutator phenotype. (11532193)	Calin G.... Negrini M.	2001	BLM, BAX, WRN
33	Direct association of Bloom's syndrome gene product with the human mismatch repair protein MLH1. (11691925)	Pedrazzi G.... Stagljar I.	2001	BLM, MLH1
34	The Bloom's syndrome gene product interacts with topoisomerase III. (10734115)	Wu L.... Hickson I.D.	2000	BLM, TOP3A
35	Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome. (10862105)	Barakat A.... Amor-Gueret M.	2000	BLM
36	Expression and nuclear localization of BLM, a chromosome stability protein mutated in Bloom's syndrome, suggest a role in recombination during meiotic prophase. (10652259)	Moens P.B.... Jackson S.P.	2000	BLM, DMC1
37	Nuclear structure in normal and Bloom syndrome cells. (10779560)	Yankiwski V.... Neff N.F.	2000	BLM, WRN, RECQL4
38	Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. (10678659)	Lindor N.M.... Jalal S.	2000	RECQL4
39	Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain. (10965492)	Rong S.B.... Vihinen M.	2000	BLM
40	The three-dimensional structure of the HRDC domain and implications for the Werner and Bloom syndrome proteins. (10647186)	Liu Z.... Sattler M.	1999	HELLS
41	Oligomeric ring structure of the Bloom's syndrome helicase. (10359700)	Karow J.K.... Hickson I.D.	1999	BLM
42	Bloom's syndrome protein, BLM, colocalizes with replication protein A in meiotic prophase nuclei of mammalian spermatocytes. (10318934)	Walpita D.... Ashley T.	1999	BLM
43	Mucinous carcinoma of the colon in a 16-year-old Turkish boy with Bloom syndrome: cytogenetic, histopathologic, TP53 gene and protein expression studies. (10326590)	Balci S.... Aktas D.	1999	TP53
44	The coding region of the Bloom syndrome BLM gene and of the CBL proto-oncogene is mutated in genetically unstable sporadic gastrointestinal tumors. (9731483)	Calin G.... Negrini M.	1998	BLM
45	Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. (9285778)	Foucault F.... Amor-Gueret M.	1997	BLM
46	The Bloom's syndrome gene product is a 3'-5' DNA helicase. (9388193)	Karow J.K.... Hickson I.D.	1997	BLM
47	p53 mutation in fresh lymphocytes, B-lymphoblastoid cell lines and their transformed cell lines originating from Bloom syndrome patients. (8330285)	Shiraishi Y.	1993	TP53, HPRT1
48	DNA ligase III is the major high molecular weight DNA joining activity in SV40-transformed human fibroblasts: normal levels of DNA ligase III activity in Bloom syndrome cells. (8265359)	Tomkinson A.E.... Schultz R.A.	1993	LIG1, LIG3
49	V(D)J recombination in ataxia telangiectasia, Bloom's syndrome, and a DNA ligase I-associated immunodeficiency disorder. (8397200)	Hsieh C.L.... Lieber M.R.	1993	LIG1
50	Purification and properties of the uracil DNA glycosylase from Bloom's syndrome. (1742335)	Seal G.... Sirover M.A.	1991	UNG

Genes related to bloom syndrome according to GeneCards:

(show top 50)    (show all 68)

id	Symbol	Description	Score	GeneCards Section Context
1	BLM	Bloom syndrome, RecQ helicase-like	11.1	Orthologs, Aliases & Descriptions, Databases, Publications (show all 6 sections) Transcripts, Summaries
2	POLD4	polymerase (DNA-directed), delta 4, accessory subunit	11.1	Publications, Summaries
3	RECQL4	RecQ protein-like 4	11.0	Publications
4	RECQL	RecQ protein-like (DNA helicase Q1-like)	11.0	Orthologs
5	RECQL5	RecQ protein-like 5	11.0	Disorders, Publications, Orthologs
6	WRN	Werner syndrome, RecQ helicase-like	11.0	Publications
7	HELLS	helicase, lymphoid-specific	11.0	Publications
8	LIG1	ligase I, DNA, ATP-dependent	11.0	Publications
9	LIG3	ligase III, DNA, ATP-dependent	11.0	Publications
10	RAD54L	RAD54-like (S. cerevisiae)	11.0
11	TERF2	telomeric repeat binding factor 2	11.0	Publications
12	HPRT1	hypoxanthine phosphoribosyltransferase 1	11.0	Publications
13	RAD51	RAD51 homolog (S. cerevisiae)	11.0	Publications
14	FEN1	flap structure-specific endonuclease 1	11.0	Publications
15	H2AFX	H2A histone family, member X	11.0	Publications
16	UNG	uracil-DNA glycosylase	11.0	Publications
17	PML	promyelocytic leukemia	11.0	Publications
18	XRCC6	X-ray repair complementing defective repair in Chinese hamster cells 6	11.0	Publications
19	ATM	ataxia telangiectasia mutated	11.0	Publications
20	DNAH8	dynein, axonemal, heavy chain 8	11.0	Publications
21	SUMO1	SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)	11.0
22	CDK1	cyclin-dependent kinase 1	11.0	Publications
23	BRCA2	breast cancer 2, early onset	11.0	Publications
24	BRCA1	breast cancer 1, early onset	11.0	Publications
25	TOP3A	topoisomerase (DNA) III alpha	11.0	Publications
26	MUS81	MUS81 endonuclease homolog (S. cerevisiae)	11.0	Publications
27	RAD51D	RAD51 homolog D (S. cerevisiae)	11.0	Publications
28	RPA3	replication protein A3, 14kDa	11.0	Publications
29	RMI2	RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae)	11.0	Publications
30	RMI1	RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)	11.0	Publications
31	FANCE	Fanconi anemia, complementation group E	11.0	Publications
32	FANCF	Fanconi anemia, complementation group F	11.0	Publications
33	EME1	essential meiotic endonuclease 1 homolog 1 (S. pombe)	11.0
34	RAD51C	RAD51 homolog C (S. cerevisiae)	11.0	Publications
35	RAD9A	RAD9 homolog A (S. pombe)	11.0	Publications
36	FANCG	Fanconi anemia, complementation group G	11.0	Publications
37	RPA2	replication protein A2, 32kDa	11.0	Publications
38	RPA1	replication protein A1, 70kDa	11.0	Publications
39	GEN1	Gen endonuclease homolog 1 (Drosophila)	11.0
40	XRCC2	X-ray repair complementing defective repair in Chinese hamster cells 2	11.0	Publications
41	APRT	adenine phosphoribosyltransferase	11.0	Publications
42	RAD52	RAD52 homolog (S. cerevisiae)	11.0
43	RAD17	RAD17 homolog (S. pombe)	11.0	Publications
44	CSDA	cold shock domain protein A	11.0	Publications
45	FANCM	Fanconi anemia, complementation group M	11.0
46	FANCL	Fanconi anemia, complementation group L	11.0	Publications
47	DMC1	DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)	11.0	Publications
48	FANCA	Fanconi anemia, complementation group A	11.0	Publications
49	POT1	protection of telomeres 1 homolog (S. pombe)	11.0	Publications
50	CHAF1A	chromatin assembly factor 1, subunit A (p150)	11.0	Publications

Pathways related to bloom syndrome according to GeneDecks:

(show top 50)    (show all 55)

id	Pathway	Score	Top Affiliating Genes
1	Base excision repair20	10.5	POLD4, FEN1, UNG, LIG1, LIG3
2	DNA damage_NHEJ mechanisms of DSBs repair41	10.5	WRN, FEN1, XRCC6, BRCA1
3	DNA damage NHEJ mechanisms of DSBs repair10	10.5	WRN, FEN1, XRCC6, BRCA1
4	Cell cycle_Transition and termination of DNA replication41	10.5	WRN, POLD4, FEN1, CDK1, LIG1, BRCA1
5	Cell cycle Transition and termination of DNA replacation10	10.5	WRN, POLD4, FEN1, CDK1, LIG1, BRCA1
6	Nucleotide Excision Repair Pathway36	10.4	LIG3, LIG1, RPA2, RPA3
7	DNA replication20	10.4	POLD4, RPA3, RPA2, RPA1, FEN1, LIG1
8	G2/M DNA damage checkpoint38	10.2	ATM, ATR, CHEK2
9	Meiotic Recombination38	10.2	TOP3A, DMC1, MLH1, BLM, BRCA2
10	Transcription P53 signaling pathway10	10.0	SUMO1, TP53, ATR
11	Mismatch Repair in Eukaryotes36	10.0	RPA3, RPA2, FEN1, MLH1, MSH6
12	Cell Cycle Checkpoints38	9.9	TP53, RAD9A, RAD17
13	DNA damage Role of SUMO in p53 regulation10	9.9	CHEK2, TP53, SUMO1, PML
14	DNA damage_Role of SUMO in p53 regulation41	9.9	PML, SUMO1, TP53, CHEK2
15	Mismatch repair20	9.9	POLD4, RPA3, RPA2, RPA1, MLH1, MSH6
16	Fanconi Anemia pathway38	9.8	FANCM, FANCG, FANCC, FANCF, FANCE, FANCL
17	Nucleotide excision repair20	9.8	POLD4, RPA3, RPA2, RPA1, ERCC3, ERCC2
18	GADD45 Pathway36	9.8	TP53, ATM, ATR, BRCA1
19	DNA damage_DNA-damage-induced responses41	9.8	TP53, ATM, ATR, CHEK2, BRCA1
20	DNA damage DNA-damage-induced responses10	9.8	TP53, ATM, ATR, CHEK2, BRCA1
21	ATM Pathway36	9.7	H2AFX, TP53, ATM, CHEK2, RAD9A, RAD51
22	DNA Damage Induced 14-3-3Sigma Signaling36	9.7	TP53, ATM, ATR, RAD9A, RAD17, BRCA1
23	Cell cycle_Role of 14-3-3 proteins in cell cycle regulation41	9.7	TP53, CDK1, ATM, ATR, CHEK2
24	Cell cycle Role of 14-3-3 proteins in cell cycle regulation10	9.7	TP53, CDK1, ATM, ATR, CHEK2
25	Apoptosis and survival_BAD phosphorylation41	9.5	PRKAR1B, PRKAR1A, GNG7
26	Chks in Checkpoint Regulation36	9.5	TP53, ATM, ATR, CHEK2, RAD9A, RAD17
27	Fanconis Anaemia Pathway36	9.5	BRCA1, BRCA2, RAD51, ATR, ATM, FANCA
28	DNA damage ATM/ATR regulation of G1/S checkpoint10	9.5	TP53, FANCL, ATM, ATR, CHEK2, BLM
29	DNA damage_ATM/ATR regulation of G1/S checkpoint41	9.5	TP53, FANCL, ATM, ATR, CHEK2, BLM
30	Transcription_P53 signaling pathway41	9.3	SUMO1, TP53, ERCC3, ERCC2, ATM, ATR
31	Meiosis10	9.1	BRCA1, RAD51, RAD52, RAD51B, RAD51D, RAD54L
32	Homologous recombination20	9.1	TOP3A, POLD4, EME1, RPA3, RPA2, BRCA2
33	14-3-3 and Regulation of BAD Activity36	8.7	PRKAR1B, PRKAR1A, CASP3, BAX
34	Apoptosis and survival BAD phosphorylation10	8.7	BAX, CDK1, GNG7, PRKAR1A, PRKAR1B
35	DNA damage_Role of Brca1 and Brca2 in DNA repair41	8.6	ATR, ATM, MLH1, FANCL, TP53, H2AFX
36	DNA damage Role of Brca1 and Brca2 in DNA repair10	8.6	BRCA1, BRCA2, BRIP1, RAD51, CHEK2, MSH6
37	Apoptosis and survival_Role of CDK5 in neuronal death and survival41	8.4	TP53, CASP3, CDK1, BAX
38	DNA Damage3	8.4	FEN1, ERCC3, TP53, TERF2, RPA1, RPA2
39	BRCA1 Pathway36	8.4	FANCE, FANCF, FANCC, FANCG, TP53, HELLS
40	Apoptosis and survival Role of CDK5 in neuronal death and survival10	8.3	TP53, CASP3, CDK1, BAX
41	p53 signaling pathway20	8.3	TP53, CASP3, CDK1, ATM, ATR, BAX
42	p53 Signaling36	8.2	PML, TP53, CASP3, ATM, ATR, BAX
43	Apoptosis20	8.2	PRKAR1B, PRKAR1A, TP53, CASP3, ATM, BAX
44	Colorectal cancer20	8.2	TP53, CASP3, MLH1, MSH6, BAX
45	Pathways in cancer20	8.2	PML, TP53, CASP3, MSH6, BAX, RAD51
46	p53 Mediated Apoptosis36	8.0	CASP3, ATM, ATR, BAX, CHEK2, TP53
47	Cell Cycle / Checkpoint Control3	7.6	RECQL4, RECQL5, BRCA1, BRCA2, BRIP1, RAD51
48	DNA Repair Mechanisms36	7.3	BRCA1, TP53, RPA2, RPA3, POLD4, ERCC3
49	Colorectal Cancer Metastasis36	7.3	PRKAR1B, PRKAR1A, TP53, CASP3, GNG7, MLH1
50	Molecular Mechanisms of Cancer36	6.8	PRKAR1B, TP53, CASP3, GNG7, ATM, ATR

Compounds related to bloom syndrome according to GeneDecks:

(show top 50)    (show all 89)

id	Compound	Score	Top Affiliating Genes
1	polynucleotide32	10.6	UNG, RAD51, LIG3, LIG1, WRN
2	8-oxoguanine32	10.5	WRN, BRCA2, BRCA1, HELLS, HPRT1
3	rpa 232	10.3	RAD51, ATR, RPA1, RPA2, RPA3
4	diepoxybutane32	10.2	FANCC, FANCG, BRCA1, FANCA, HPRT1
5	adozelesin32	10.1	H2AFX, HPRT1, TP53, RPA2
6	magnesium32 9 18 9	13.0	BLM, HELLS, EME1, HPRT1, FEN1, DNAH8
7	7-hydroxystaurosporine32 9 9	11.9	CDK1, TP53, RPA2, H2AFX
8	benzo(a)pyrene32	9.9	HELLS, TP53, HPRT1, APRT, BRCA1, H2AFX
9	bleomycin32 9 9	11.8	HPRT1, WRN, H2AFX, TP53, ATM, BRCA1
10	adenine32 9 18 9	12.8	FANCC, UNG, RAD51, APRT, HPRT1, HELLS
11	polyacrylamide32	9.8	BRCA2, MLH1, UNG, BRCA1, RAD51, ATM
12	purine32 18	10.8	CDK1, LBR, RPA2, HPRT1, HELLS, APRT
13	h2o232	9.7	APRT, RECQL4, EIF4E, HPRT1, LBR, UNG
14	bpde32	9.6	TP53, APRT, CDK1, HPRT1, ATM, CHEK2
15	o6-methylguanine32	9.6	MSH6, TP53, MLH1, BRCA2, RAD51, HPRT1
16	guanine32 9 18 9	12.5	APRT, EIF4E, HPRT1, TP53, BRCA1, RAD51
17	sarcnu32	9.4	ERCC2, TP53, CDK1
18	oxaliplatin32 34 9 9	12.4	CDK1, MLH1, BRCA1, HPRT1, ERCC2, TP53
19	aphidicolin32	9.3	H2AFX, RPA2, TP53, HPRT1, CDK1, ATM
20	caffeine32 34 9 18 9	13.3	LIG1, TP53, CHEK2, H2AFX, RPA2, ATM
21	folate32	9.2	BRCA2, ERCC2, DNAH8, BRCA1, MLH1, UNG
22	melphalan32 9 9	11.1	ERCC3, ERCC2, TP53, FANCC, APRT, RAD51
23	methylmethanesulfonate32	9.1	LIG3, BLM, CDK1, HELLS, BRCA1, WRN
24	zinc32 18	10.0	ATRX, BRCA2, PML, HELLS, RPA3, RPA2
25	alanine32	9.0	BRCA1, RAD51, DNAH8, HELLS, EIF4E, FANCG
26	acridine32	8.9	LBR, BAX, RAD51, CASP3
27	mitomycin c32	8.9	BRCA1, BRCA2, RAD51, XRCC2, XRCC6, ATM
28	thymidine32 18	9.8	BRCA2, TP53, BRCA1, APRT, MLH1, LBR
29	oligonucleotide32	8.8	UNG, CHEK2, LIG1, RAD51, BRCA2, BRCA1
30	hydroxyurea32 9 9	10.7	CHEK2, ATR, ATM, CDK1, HPRT1, TP53
31	irinotecan32 34 9 9	11.7	H2AFX, TP53, ERCC2, MLH1, CDK1, BAX
32	arginine32	8.6	H2AFX, RAD51, HELLS, PRKAR1A, LBR, MLH1
33	adpribose32	8.5	TERF2, TP53, BAX, CDK1, LIG1, LIG3
34	indole-3-carbinol32	8.5	CASP3, BRCA1, BAX, BRCA2, TP53
35	cytarabine32 34 9 9	11.4	TP53, LIG1, BAX, ATR, ATM, CDK1
36	thymidylate32	8.4	BRCA1, HELLS, RPA1, TP53, ERCC2, UNG
37	adriamycin32	8.3	CHEK2, TP53, HPRT1, CDK1, BRCA1, BRCA2
38	curcumin32	8.3	CASP3, CDK1, XRCC6, TP53, BAX, HPRT1
39	wortmannin32 42	9.3	BAX, CASP3, RPA2, EIF4E, H2AFX, ATM
40	docetaxel32 34 9 9	11.3	ERCC2, CASP3, BRCA1, CDK1, BRCA2, BAX
41	arsenite32 18	9.0	TP53, TERF2, CDK1, EIF4E, H2AFX, CASP3
42	5fluorouracil32	7.9	TP53, CDK1, CASP3, BAX, UNG, BRCA1
43	gemcitabine32 34 9 9	10.8	ERCC2, RAD51, H2AFX, TP53, CASP3, MLH1
44	paclitaxel32 34 9 9	10.8	BRCA1, BRCA2, RAD51, BAX, CDK1, TP53
45	atp32	7.7	BLM, EIF4E, MLH1, LIG1, RAD17, RAD51
46	doxorubicin32 34 9 9	10.6	XRCC6, TP53, HELLS, DNAH8, H2AFX, CASP3
47	etoposide32 42 9 9	10.3	TP53, HPRT1, CASP3, MLH1, CDK1, ATM
48	retinoic acid32 42 18	9.2	BRCA2, BRCA1, TP53, BAX, LBR, TERF2
49	camptothecin32 42 9 9	9.8	BRCA1, ATM, CDK1, MLH1, CASP3, TP53
50	cisplatin32 34 9 9	8.4	UNG, LIG1, RAD52, RAD51, BRCA2, BRCA1

Cellular components related to bloom syndrome according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	male germ cell nucleus	GO:001673	10.2	BLM, RPA1, H2AFX
2	DNA replication factor A complex	GO:005662	10.1	RPA1, RPA2, RPA3
3	condensed nuclear chromosome	GO:000794	10.1	H2AFX, RPA1, DMC1, RAD51
4	nuclear telomere cap complex	GO:000783	10.1	POT1, TERF2, XRCC6
5	chromosome, telomeric region	GO:000781	9.7	POT1, H2AFX, DMC1, TERF2, ATM, CHEK2
6	Fanconi anaemia nuclear complex	GO:043240	9.6	FANCM, FANCG, FANCC, FANCF, FANCE, FANCL
7	PML body	GO:016605	9.1	PML, TOP3A, RPA2, RPA1, SUMO1, TP53
8	nucleolus	GO:005730	8.2	TP53, TERF2, RPA1, RPA2, PML, WRN
9	cytoplasm	GO:005737	5.5	CASP3, HPRT1, ERCC2, TP53, TERF2, SUMO1
10	nucleoplasm	GO:005654	4.9	RAD51C, LIG3, LIG1, CHEK2, XRCC6, ATR
11	nucleus	GO:005634	3.2	RMI1, RMI2, WRN, GEN1, RECQL, RAD9A

Biological processes related to bloom syndrome according to GeneDecks:

(show all 43)

id	Name	GO ID	Score	Top Affiliating Genes
1	DNA strand renaturation	GO:000733	10.6	RAD54L, RECQL4, RECQL
2	V(D)J recombination	GO:033151	10.6	XRCC6, LIG1, LIG3
3	replication fork processing	GO:031297	10.5	WRN, FANCM, BLM
4	response to ionizing radiation	GO:010212	10.5	H2AFX, ATM, XRCC6, RAD54L, BRCA1
5	response to X-ray	GO:010165	10.4	BRCA2, BLM, XRCC2
6	nucleotide-excision repair, DNA gap filling	GO:006297	10.4	POLD4, RPA3, RPA2, RPA1, LIG1
7	telomere maintenance via semi-conservative replication	GO:032201	10.4	POLD4, RPA3, RPA2, RPA1, FEN1, LIG1
8	telomere maintenance via recombination	GO:000722	10.4	POLD4, RPA3, RPA2, RPA1, FEN1, LIG1
9	DNA strand elongation involved in DNA replication	GO:006271	10.3	POLD4, RPA3, RPA2, RPA1, FEN1, LIG1
10	DNA metabolic process	GO:006259	10.3	WRN, LIG1, RECQL5
11	DNA recombinase assembly	GO:000730	10.3	RPA3, RPA2, RPA1, RAD52, RAD51
12	S phase of mitotic cell cycle	GO:000084	10.3	LIG1, FEN1, RPA1, RPA2, RPA3, POLD4
13	meiosis	GO:007126	10.2	TOP3A, H2AFX, RPA1, DMC1, XRCC2, RAD54L
14	DNA damage response, signal transduction resulting in induction of apoptosis	GO:008630	10.1	PML, ATM, MSH6, CHEK2, BRCA1
15	base-excision repair	GO:006284	10.0	WRN, POLD4, TP53, FEN1, UNG, LIG1
16	cell aging	GO:007569	10.0	WRN, PML, TP53, CDK1, BRCA2
17	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	GO:006978	10.0	BRCA1, BRCA2, TP53
18	telomere maintenance	GO:000723	10.0	LIG1, BLM, XRCC6, FEN1, TERF2, RPA1
19	DNA duplex unwinding	GO:032508	10.0	WRN, POT1, ATRX, RECQL5, RECQL4, RECQL
20	mitotic cell cycle	GO:000278	10.0	POLD4, RPA3, RPA2, RPA1, FEN1, CDK1
21	reciprocal meiotic recombination	GO:007131	9.9	DMC1, ATM, LIG3, RAD51D, RAD51B, RAD52
22	DNA damage checkpoint	GO:000077	9.9	H2AFX, ATR, CHEK2, RAD9A, RAD17, BRIP1
23	nucleotide-excision repair, DNA damage removal	GO:000718	9.8	RPA3, RPA2, RPA1, ERCC3, ERCC2
24	ATP catabolic process	GO:006200	9.8	WRN, ERCC3, MSH6, BLM
25	double-strand break repair via homologous recombination	GO:000724	9.8	BRCA1, BRCA2, RAD51, RAD52, RAD54L, LIG1
26	replicative senescence	GO:090399	9.8	CHEK2, ATR, ATM, TP53
27	transcription-coupled nucleotide-excision repair	GO:006283	9.8	POLD4, RPA3, RPA2, RPA1, ERCC3, ERCC2
28	DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis	GO:042771	9.7	TP53, BRCA2, PML
29	protein complex assembly	GO:006461	9.5	CHAF1A, CDK1, FANCA, FANCC, TP53, PML
30	response to UV	GO:009411	9.4	PML, ERCC3, CASP3, MSH6
31	DNA replication	GO:006260	9.4	CHAF1A, ATR, CDK1, FEN1, RPA1, RPA2
32	negative regulation of DNA replication	GO:008156	9.3	TP53, ATR, RAD17
33	DNA recombination	GO:006310	9.2	RPA1, WRN, EME1, ATRX, MUS81, BLM
34	nuclear fragmentation involved in apoptotic nuclear change	GO:030264	9.2	CASP3, BAX
35	response to gamma radiation	GO:010332	9.0	PML, TP53, XRCC2, BAX, CHEK2, BRCA2
36	nucleotide-excision repair	GO:006289	8.9	POLD4, RPA3, RPA2, RPA1, TP53, ERCC3
37	double-strand break repair	GO:006302	8.9	RAD51, RAD52, LIG1, CHEK2, XRCC6, ATM
38	neuron apoptotic process	GO:051402	8.7	TP53, CASP3, ATM, BAX
39	induction of apoptosis by intracellular signals	GO:008629	8.4	TP53, CASP3, MSH6, BAX
40	cell cycle checkpoint	GO:000075	8.4	CDK1, FANCG, ERCC2, ERCC3, TP53, RPA1
41	virus-host interaction	GO:019048	8.2	PML, EIF4E, TP53, ERCC3, ERCC2, BAX
42	response to DNA damage stimulus	GO:006974	7.7	WRN, H2AFX, TP53, CASP3, FANCL, ATM
43	DNA repair	GO:006281	5.0	RECQL, CHAF1A, MUS81, XRCC2, XRCC6, MSH6

Molecular functions related to bloom syndrome according to GeneDecks:

(show all 20)

id	Name	GO ID	Score	Top Affiliating Genes
1	ATP-dependent 3-5 DNA helicase activity	GO:043140	10.6	WRN, BLM, RECQL4, RECQL
2	bubble DNA binding	GO:000405	10.5	WRN, BLM, RECQL4
3	damaged DNA binding	GO:003684	10.1	H2AFX, ERCC3, FANCG, FEN1, RAD51
4	four-way junction helicase activity	GO:009378	10.1	WRN, BLM
5	DNA helicase activity	GO:003678	10.0	WRN, ATRX, RECQL5, RECQL
6	helicase activity	GO:004386	10.0	WRN, HELLS, ATRX, BLM, RAD54L
7	3-5 DNA helicase activity	GO:043138	10.0	WRN, ERCC3
8	double-stranded DNA binding	GO:003690	10.0	RAD51, XRCC6, MSH6, FEN1, CSDA
9	single-stranded DNA binding	GO:003697	9.8	CSDA, RPA3, RPA2, RPA1, MLH1, BLM
10	ATPase activity	GO:016887	9.8	WRN, DNAH8, ERCC3, MSH6, BLM
11	RNA polymerase II carboxy-terminal domain kinase activity	GO:008353	9.7	CDK1, ERCC2, ERCC3
12	ATP-dependent DNA helicase activity	GO:004003	9.7	WRN, ERCC3, ERCC2, XRCC6, BLM, BRIP1
13	chromo shadow domain binding	GO:070087	9.7	ATRX, LBR, CHAF1A
14	ubiquitin protein ligase binding	GO:031625	9.4	PML, PRKAR1A, SUMO1, TP53, FANCL, CHEK2
15	protein N-terminus binding	GO:047485	9.2	RPA2, TP53, ERCC3, ERCC2, ATM
16	DNA-dependent ATPase activity	GO:008094	9.2	DMC1, ERCC3, ERCC2, XRCC2, RAD51C, RAD51D
17	chromatin binding	GO:003682	8.7	CHAF1A, MSH6, ATRX, FANCM, TP53, RPA1
18	DNA binding	GO:003677	6.0	RAD51B, ERCC3, TP53, DMC1, H2AFX, HELLS
19	ATP binding	GO:005524	5.8	RECQL, RECQL4, RECQL5, ATR, ATM, CDK1
20	protein binding	GO:005515	1.4	RECQL, MUS81, BAX, LBR, XRCC6, MSH6