Nijmegen Breakage Syndrome malady

Genetics Home Reference: Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.¹⁷

MalaCards: Nijmegen Breakage Syndrome, also known as berlin breakage syndrome, is related to nijmegen breakage syndrome-like disorder and microcephaly. An important gene associated with Nijmegen Breakage Syndrome is NBN (nibrin), and among its related pathways are Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks and G2/M DNA damage checkpoint. The drugs varicella zoster immune globulin (human) and venoglobulin-i and the compounds threonine and roscovitine have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, breast and prostate, and related mouse phenotypes are respiratory system and endocrine/exocrine gland.

Wikipedia: Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome and Seemanova syndrome, is a...⁴⁴ more...

OMIM: 251260

GeneReviews summary for nijmegen

Aliases & Descriptions:

nijmegen breakage syndrome 6 7 15 30 16 17 33 8 32 43 berlin breakage syndrome 6 15 30 16 17 ataxia-telangiectasia variant 1 15 16 17 seemanova syndrome 6 17 microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies 30 nonsyndromal microcephaly autosomal recessive with normal intelligence 30 microcephaly, normal intelligence and immunodeficiency (disorder) 6

immunodeficiency, microcephaly with normal intelligence 30 microcephaly immunodeficiency lymphoreticuloma 30 ataxia-telangiectasia variant v1 30 immunologic deficiency syndromes 43 seemanova syndrome 2 30 at - v1 16

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

(show top 50)    (show all 221)

id	Related Disease	Score	Top Affiliating Genes
1	nijmegen breakage syndrome-like disorder	34.3	RAD50, ATM
2	microcephaly	31.4	NBN, BRCA1, RAD50, LIG4, CHEK1, ATR
3	fanconi's anemia	31.3	FANCD2, FANCF, FANCB
4	hodgkin's lymphoma	29.7	BRCA1, ATM, IL2, MDM2, AICDA
5	breast cancer	29.5	BRCA1, UBC, IGF1R, TUBG1, NQO1
6	non-hodgkin lymphoma	29.0	NBN, ATM, IL2, MDM2, AICDA, TERF2
7	glioblastoma	29.0	CDKN1A, MDM2, TP53, TERT, E2F1
8	rhabdomyosarcoma	28.0	NBN, ATM, CDKN1A, MDM2, IGF1R, TP53
9	acute lymphoblastic leukemia	27.2	NBN, RAD51, LIG4, UBC, ATM, CD79A
10	common variable immunodeficiency	27.2	CD79A, IL2, AICDA, TP53, RPA1
11	medulloblastoma	27.1	NBN, RAD51, LIG4, ATM, CDKN1A, MDM2
12	ataxia telangiectasia	26.6	NBN, BRCA1, RAD51, RAD50, RAD17, LIG4
13	lymphoblastic leukemia	26.5	NBN, RAD51, LIG4, UBC, ATM, CD79A
14	acute myeloid leukemia	25.1	NBN, BRCA1, RAD51, RAD50, CHEK1, CHEK2
15	ataxia	24.6	NBN, BRCA1, RAD51, RAD50, RAD17, LIG4
16	myeloid leukemia	23.6	NBN, BRCA1, RAD51, RAD50, LIG1, CHEK1
17	neuronitis	22.8	NBN, BRCA1, LIG4, CHEK1, CHEK2, UBC
18	anemia	22.6	NBN, BRCA1, RAD51, RAD50, LIG4, BLM
19	leukemia	21.8	NBN, BRCA1, RAD51, RAD52, RAD50, RAD17
20	prostatitis	21.1	NBN, BRCA1, RAD51, RAD52, RAD50, RAD54B
21	immunodeficiency	19.6	NBN, BRCA1, RAD51, RAD50, RAD17, LIG4
22	early-onset ataxia with oculomotor apraxia and hypoalbuminemia	13.7	NBN, RAD50, CHEK2, MRE11A
23	fanconi anemia, complementation group b	13.6	FANCD2, FANCF, FANCB
24	fanconi anemia, complementation group m	13.5	BLM, FANCD2, FANCF, FANCB
25	non-hodgkin lymphoma, childhood	13.5	NBN, MDM2
26	hodgkin lymphoma, childhood	13.5	NBN, MDM2
27	dna ligase iv deficiency	13.4	LIG4, ATR, DCLRE1C, NHEJ1
28	familial chronic lymphocytic leukemia	13.4	RAD51, RAD52, ATM
29	acoustic neuroma	13.3	NBN, RAD51, RAD52, LIG4, LIG1
30	acute lymphoblastic leukemia, childhood	13.3	NBN, ATM, MDM2, NQO1
31	neuroma	13.3	NBN, RAD51, RAD52, LIG4, LIG1
32	hereditary breast ovarian cancer	13.2	BRCA1, CHEK2, TP53
33	familial pancreatic cancer	13.1	BRCA1, CHEK2, TP53
34	mayer-rokitansky-kuster-hauser syndrome	13.1	NBN, BRCA1, LIG4, BLM, ATM, MRE11A
35	mutagen sensitivity	13.0	BRCA1, BLM, TP53
36	marginal zone b-cell lymphoma	13.0	ATM, CD79A, TP53
37	dna topoisomerase i	12.9	NBN, RAD52, RAD50, ATM, MRE11A, TP53
38	bilateral breast cancer	12.9	BRCA1, RAD51, CHEK2, ATM, TP53
39	pinguecula	12.9	TP53, DCLRE1C
40	gastrointestinal lymphoma	12.8	NBN, CDKN1A, TP53
41	growth retardation with deafness and mental retardation due to igf1 deficiency	12.8	NBN, LIG4, LIG1, ATR, ATM, IGF1R
42	lynch syndrome	12.8	NBN, BRCA1, RAD50, MRE11A, MDM2, TP53
43	balkan nephropathy	12.7	TP53, NQO1
44	cervix carcinoma	12.7	NBN, CDKN1A, TP53
45	ovarian cancer	12.7	NBN, BRCA1, RAD50, CHEK2, ATR, MRE11A
46	xeroderma pigmentosum, group a	12.5	ATR, ATM, TP53, RPA1, RPA2, PRKDC
47	gliomatosis cerebri	12.5	CDKN1A, MDM2, TP53
48	actinic cheilitis	12.5	CDKN1A, MDM2, TP53
49	seckel syndrome	12.5	LIG4, CHEK1, ATR, ATM, MDC1, IGF1R
50	cheilitis	12.5	CDKN1A, MDM2, TP53

Clinical features from OMIM: 251260

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 cytomegalovirus immune globulin, globulin,immune, globulin,immune (im), varicella zoster immune globulin, varicella zoster immune globulin (human), venoglobulin-i

Genetic tests related to nijmegen breakage syndrome:

id	Genetic test	Affiliating Genes
1	Nijmegen Breakage Syndrome clinical/research	NBN

MalaCards organs/tissues related to nijmegen breakage syndrome:

²²

MGI Mouse Phenotypes related to nijmegen breakage syndrome:

²⁵ (show all 21)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	9.4	SIRT1, ATMIN, ATR, RAD50, BRCA1
2	endocrine/exocrine gland phenotype	MP:0005379	9.2	WRN, H2AFX, TERF1, FANCD2, MDC1, IL2
3	craniofacial phenotype	MP:0005382	9.0	SIRT1, TERF1, IGF1R, ATMIN, ATR, LIG4
4	reproductive system phenotype	MP:0005389	8.7	MDC1, FANCD2, H2AFX, SIRT1, WRN, E2F1
5	liver/biliary system phenotype	MP:0005370	8.2	SIRT1, NQO1, TERF2, TP53, IL2, ATR
6	no phenotypic analysis	MP:0003012	8.0	SIRT1, PML, TERF1, TP53, AICDA, MDC1
7	adipose tissue phenotype	MP:0005375	7.4	E2F1, WRN, SIRT1, PRKDC, NQO1, TP53
8	normal phenotype	MP:0002873	7.2	SIRT1, PML, TERT, TERF1, TP53, AICDA
9	integument phenotype	MP:0010771	6.2	TP53, TERF1, NQO1, PRKDC, SIRT1, WRN
10	digestive/alimentary phenotype	MP:0005381	6.0	TERF1, TERT, PRKDC, SIRT1, WRN, E2F1
11	cardiovascular system phenotype	MP:0005385	6.0	MDM2, IGF1R, TP53, H2AFX, SIRT1, WRN
12	behavior/neurological phenotype	MP:0005386	6.0	IL2, MDM2, IGF1R, TP53, PRKDC, SIRT1
13	embryogenesis phenotype	MP:0005380	5.9	MRE11A, CDKN1A, MDM2, IGF1R, TUBG1, TP53
14	nervous system phenotype	MP:0003631	5.8	CDKN1A, MDM2, IGF1R, TP53, TERT, PRKDC
15	mortality/aging	MP:0010768	5.4	TERF2, SMC1A, RPA1, H2AFX, PML, SIRT1
16	immune system phenotype	MP:0005387	5.2	NBN, BRCA1, RAD52, RAD50, LIG4, LIG1
17	homeostasis/metabolism phenotype	MP:0005376	4.7	IGF1R, TP53, TERF1, TERT, NQO1, PRKDC
18	growth/size phenotype	MP:0005378	4.3	TERF1, TP53, IGF1R, FANCD2, MDM2, TERT
19	tumorigenesis	MP:0002006	4.0	CDKN1A, IL2, MDM2, FANCD2, IGF1R, AICDA
20	hematopoietic system phenotype	MP:0005397	3.3	ATMIN, E2F1, SIRT1, NHEJ1, PML, ATM
21	cellular phenotype	MP:0005384	2.0	NBN, FANCD2, IGF1R, AICDA, TUBG1, TP53

Articles related to nijmegen breakage syndrome:

(show top 50)    (show all 73)

id	Title	Authors	Year	Affiliating Genes
1	Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. (20597108)	Dutrannoy V.... Varon R.	2010	NHEJ1
2	Nijmegen breakage syndrome protein (NBN) causes resis tance to methylating anticancer drugs such as temozolomide. (20729302)	Eich M.... Kaina B.	2010	NBN
3	Telomerase upregulation is a postcrisis event during senescence bypass and immortalization of two Nijmegen breakage syndrome T cell cultures. (20089118)	Degerman S.... Roos G.	2010	TERT
4	Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations. (19151620)	Watanabe T.... Ohgaki H.	2009	TP53, NBN
5	Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. (19409520)	Waltes R.... DAPrk T.	2009	ATM, RAD50
6	Clinical variability and expression of the NBN c.657d el5 allele in Nijmegen Breakage Syndrome. (19635536)	Lins S.... Digweed M.	2009	NBN
7	Statins use a novel Nijmegen breakage syndrome-1-dependent pathway to accelerate DNA repair in vascular smooth muscle cells. (18723444)	Mahmoudi M.... Bennett M.	2008	MDM2, ATM, NBN
8	Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation. (18788073)	GA8adkowska-Dura M.... Langerak A.W.	2008	NBN
9	Structure of a second BRCT domain identified in the nijmegen breakage syndrome protein Nbs1 and its function in an MDC1-dependent localization of Nbs1 to DNA damage sites. (18582474)	Xu C.... Mer G.	2008	NBN, MDC1
10	Spontaneously immortalized T lymphocytes from Nijmegen Breakage Syndrome patients display phenotypes typical for lymphoma cells. (17900685)	Siwicki J.K.... Steffen J.	2008	IL2
11	Evidence that the Nijmegen breakage syndrome protein, an early sensor of double-strand DNA breaks (DSB), is involved in HIV-1 post-integration repair by recruiting the ataxia telangiectasia-mutated kinase in a process similar to, but distinct from, cellular DSB repair. (18211700)	Smith J.A.... Daniel R.	2008	NBN
12	A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling 'Nijmegen breakage syndrome' phenotype. (17395558)	Berardinelli F.... Antoccia A.	2007	NBN
13	Impaired DNA double strand break repair in cells from Nijmegen breakage syndrome patients. (16309973)	Howlett N.G.... Schiestl R.H.	2006	NBN
14	Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability. (16033915)	Seemanova E.... Digweed M.	2006	NBN
15	Mild Nijmegen breakage syndrome phenotype due to alternative splicing. (16415040)	Varon R.... Maraschio P.	2006	NBN
16	Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer. (16702373)	Hebbring S.J.... Thibodeau S.N.	2006	NBN
17	An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. (15333589)	Demuth I.... Digweed M.	2004	NBN
18	Nijmegen breakage syndrome and DNA double strand break repair by NBS1 complex. (15493328)	Matsuura S.... Komatsu K.	2004	NBN
19	Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly. (15033202)	Seeman P.... SeemanovA! E.	2004	NBN
20	The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia. (15451479)	Gennery A.R.... Jeggo P.A.	2004	NBN
21	Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site. (15474156)	Meyer S.... Eden O.B.	2004	NBN
22	The Nijmegen breakage syndrome gene and its role in genome stability. (15258809)	Iijima K.... Tauchi H.	2004	PML, NBN
23	Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. (15279809)	Digweed M.... Sperling K.	2004	NBN
24	Analysis of ataxia-telangiectasia mutated (ATM)- and Nijmegen breakage syndrome (NBS)-regulated gene expression patterns. (14745549)	Jang E.R.... Lee J.S.	2004	ATM, NBN
25	Assembly of functional ALT-associated promyelocytic leukemia bodies requires Nijmegen Breakage Syndrome 1. (12750284)	Wu G.... Chen P.L.	2003	NBN, TERF1
26	657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls. (12833396)	Resnick I.B.... Roumiantsev A.G.	2003	NBN
27	Correspondence re: R. Varon et al., Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia. Cancer Res., 61: 3570-3572, 2001. (14559852)	Taylor G.M.... Eden O.B.	2003	NBN
28	Distinct functions of Nijmegen breakage syndrome in ataxia telangiectasia mutated-dependent responses to DNA damage. (12861053)	Lee J.H.... Lim D.S.	2003	ATM, NBN
29	Multiplex single-tube screening for mutations in the Nijmegen Breakage Syndrome (NBS1) gene in Hodgkin's and non-Hodgkin's lymphoma patients of Slavic origin. (12734548)	Soucek P.... Kristensen V.N.	2003	NBN
30	Nijmegen breakage syndrome gene (NBS1) alterations and its protein (nibrin) expression in human ovarian tumours. (12485469)	Plisiecka-Hal/asa J.... Kupryjanczyk J.	2002	NBN
31	Insulin-like growth factor I receptor is expressed at normal levels in Nijmegen breakage syndrome cells. (12147227)	Watanabe H.... Miura M.	2002	IGF1R
32	Specific features of p53 protein induction after ionizing radiation in cells of patients with Nijmegen breakage syndrome (12174591)	Balmukhanov T.S.... Weemas C.	2002	TP53, CDKN1A
33	Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit. (11448772)	Ranganathan V.... Weaver D.T.	2001	NBN
34	Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect. (11756000)	van Engelen B.G.... Weemaes C.M.	2001	NBN, CD79A
35	Positional cloning and functional analysis of the gene responsible for Nijmegen breakage syndrome, NBS1. (10838806)	Tauchi H.	2000	NBN, RAD17
36	Normal V(D)J recombination in cells from patients with Nijmegen breakage syndrome. (11282395)	Harfst E.... Grawunder U.	2000	NBN, RNASE2, MLIP
37	ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. (10839545)	Wu X.... Weaver D.T.	2000	ATM, WRN, NBN
38	Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products. (10839544)	Zhao S.... Lee E.Y.-H.P.	2000	ATM, NBN, RAD50
39	Impaired p53-mediated DNA damage response, cell-cycle disturbance and chromosome aberrations in Nijmegen breakage syndrome lymphobla stoid cell lines. (10374940)	Antoccia A.... Tanzarella C.	1999	TP53
40	Identification, characterization, and mapping of a mo use homolog of the gene mutated in Nijmegen breakage syndrome. (10640816)	Vissinga C.S.... Concannon P.	1999	NBN
41	Sequence analysis of an 800-kb genomic DNA region on chromosome 8q21 that contains the Nijmegen breakage syndrome gene, NBS1. (9933573)	Tauchi H.... Nakamura Y.	1999	NBN, OSGIN2
42	Nijmegen breakage syndrome: consequences of defective DNA double strand break repair. (10440861)	Digweed M.... Sperling K.	1999	NBN
43	Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. (9590180)	Varon R.... Reis A.	1998	NBN
44	Positional cloning of the gene for Nijmegen breakage syndrome. (9620777)	Matsuura S.... Komatsu K.	1998	NBN
45	The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. (9590181)	Carney J.P.... Petrini J.H.J.	1998	MRE11A, NBN, RAD50
46	Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart. (9442910)	Shiloh Y.	1997	ATM
47	Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24. (9199571)	Matsuura S.... Komatsu K.	1997	NBN
48	The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21. (9042920)	Saar K.... Sperling K.	1997	NBN
49	Nijmegen breakage syndrome cells fail to induce the p 53-mediated DNA damage response following exposure to ionizing radiation. (9271379)	Jongmans W.... Hall J.	1997	TP53
50	Nijmegen Breakage Syndrome (20301355)	Concannon P.... Gatti R.	1993	NBN

Genes related to nijmegen breakage syndrome according to GeneCards:

(show all 49)

id	Symbol	Description	Score	GeneCards Section Context
1	NBN	nibrin	11.1	Orthologs, Aliases & Descriptions, Summaries, Publications
2	RAD50	RAD50 homolog (S. cerevisiae)	11.1	Summaries, Publications
3	ATM	ataxia telangiectasia mutated	11.0	Publications
4	LIG4	ligase IV, DNA, ATP-dependent	11.0	Publications
5	MRE11A	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	11.0	Publications
6	H2AFX	H2A histone family, member X	11.0	Publications
7	AICDA	activation-induced cytidine deaminase	11.0
8	TERF2	telomeric repeat binding factor 2	11.0
9	LIG1	ligase I, DNA, ATP-dependent	11.0
10	RPA1	replication protein A1, 70kDa	11.0
11	SMC1A	structural maintenance of chromosomes 1A	11.0
12	WRN	Werner syndrome, RecQ helicase-like	11.0	Publications
13	FANCD2	Fanconi anemia, complementation group D2	11.0
14	DCLRE1C	DNA cross-link repair 1C	11.0
15	BLM	Bloom syndrome, RecQ helicase-like	11.0
16	NQO1	NAD(P)H dehydrogenase, quinone 1	11.0
17	CHEK2	checkpoint kinase 2	11.0
18	E2F1	E2F transcription factor 1	11.0
19	BRCA1	breast cancer 1, early onset	11.0	Publications
20	RNASE2	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	11.0	Publications
21	OSGIN2	oxidative stress induced growth inhibitor family member 2	11.0	Publications
22	FANCF	Fanconi anemia, complementation group F	11.0	Publications
23	FANCB	Fanconi anemia, complementation group B	11.0	Publications
24	ASF1A	ASF1 anti-silencing function 1 homolog A (S. cerevisiae)	11.0	Disorders
25	ATMIN	ATM interactor	11.0
26	RAD17	RAD17 homolog (S. pombe)	11.0	Publications
27	MDC1	mediator of DNA-damage checkpoint 1	11.0	Publications
28	NHEJ1	nonhomologous end-joining factor 1	11.0	Publications
29	RPA2	replication protein A2, 32kDa	11.0
30	RAD52	RAD52 homolog (S. cerevisiae)	11.0
31	TUBG1	tubulin, gamma 1	11.0	Publications
32	TERF1	telomeric repeat binding factor (NIMA-interacting) 1	11.0	Publications
33	SIRT1	sirtuin 1	11.0	Publications
34	RAD54B	RAD54 homolog B (S. cerevisiae)	11.0
35	ATR	ataxia telangiectasia and Rad3 related	11.0	Publications
36	RAD51	RAD51 homolog (S. cerevisiae)	11.0
37	MLIP	muscular LMNA-interacting protein	11.0	Publications
38	KPNA2	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	11.0
39	PML	promyelocytic leukemia	11.0	Publications
40	TERT	telomerase reverse transcriptase	11.0	Publications
41	MDM2	Mdm2, p53 E3 ubiquitin protein ligase homolog (mouse)	11.0	Publications
42	UBC	ubiquitin C	11.0	Publications
43	CD79A	CD79a molecule, immunoglobulin-associated alpha	11.0	Publications
44	CHEK1	checkpoint kinase 1	11.0
45	PRKDC	protein kinase, DNA-activated, catalytic polypeptide	11.0
46	IGF1R	insulin-like growth factor 1 receptor	11.0	Publications
47	IL2	interleukin 2	11.0	Publications
48	TP53	tumor protein p53	11.0	Publications
49	CDKN1A	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	11.0	Publications

Pathways related to nijmegen breakage syndrome according to GeneDecks:

(show top 50)    (show all 62)

id	Pathway	Score	Top Affiliating Genes
1	Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks38	10.5	H2AFX, MRE11A, RAD50, NBN
2	G2/M DNA damage checkpoint38	10.3	CHEK2, ATR, ATM
3	Telomere Extension by Telomerase36	10.1	TERT, TERF2, TERF1, MRE11A, RAD50
4	Cell cycle Transition and termination of DNA replacation10	10.1	BRCA1, LIG1, WRN, E2F1
5	Cell cycle_Transition and termination of DNA replication41	10.0	E2F1, WRN, UBC, LIG1, BRCA1
6	Non-homologous end-joining20	9.9	NHEJ1, PRKDC, DCLRE1C, MRE11A, LIG4, RAD50
7	Transcription P53 signaling pathway10	9.8	ATR, TP53
8	Meiosis10	9.7	FANCB, FANCD2, BLM, RAD54B, RAD52, RAD51
9	Homologous recombination20	9.6	RPA2, RPA1, MRE11A, BLM, RAD54B, RAD50
10	DNA damage_NHEJ mechanisms of DSBs repair41	9.6	NBN, BRCA1, RAD50, WRN, SIRT1, PRKDC
11	DNA damage NHEJ mechanisms of DSBs repair10	9.6	WRN, SIRT1, PRKDC, DCLRE1C, MRE11A, LIG4
12	Fanconis Anaemia Pathway36	9.6	FANCF, FANCD2, MRE11A, ATR, UBC, RAD50
13	DNA Damage Induced 14-3-3Sigma Signaling36	9.4	TP53, ATM, ATR, RAD17, BRCA1
14	DNA damage ATM/ATR regulation of G1/S checkpoint10	9.2	SMC1A, FANCD2, MDM2, MDC1, ATM, ATR
15	DNA damage Role of SUMO in p53 regulation10	9.2	PML, TP53, MDM2, CHEK2
16	Cell cycle_Role of 14-3-3 proteins in cell cycle regulation41	9.2	CHEK2, ATR, ATM, TP53, CHEK1
17	Inhibition of Ribosome Biogenesis by p14(ARF)36	9.1	E2F1, TP53, MDM2, UBC
18	Cell cycle Role of 14-3-3 proteins in cell cycle regulation10	9.1	TP53, ATM, ATR, CHEK2, CHEK1
19	Cell cycle_Role of SCF complex in cell cycle regulation41	9.1	CHEK1, UBC, CDKN1A, E2F1
20	GADD45 Pathway36	9.0	TP53, CDKN1A, ATM, ATR, BRCA1
21	G1-S Phase Transition36	9.0	E2F1, TP53, CDKN1A, ATM, ATR
22	DNA damage_Role of SUMO in p53 regulation41	8.9	PML, TP53, MDM2, UBC, CHEK2
23	Cyclins and Cell Cycle Regulation36	8.9	E2F1, TP53, CDKN1A, ATM, ATR
24	Proteolysis_Putative SUMO-1 pathway41	8.9	UBC, MDM2, TP53, PML
25	Transcription_P53 signaling pathway41	8.7	E2F1, TP53, MDM2, CDKN1A, ATM, ATR
26	DNA damage_Role of Brca1 and Brca2 in DNA repair41	8.7	FANCD2, MDC1, MRE11A, ATM, ATR, CHEK2
27	DNA damage Role of Brca1 and Brca2 in DNA repair10	8.7	H2AFX, TP53, FANCD2, MDC1, MRE11A, ATM
28	DNA damage_DNA-damage-induced responses41	8.5	PRKDC, TP53, MDC1, ATM, ATR, CHEK2
29	DNA damage DNA-damage-induced responses10	8.5	CHEK1, BRCA1, CHEK2, ATR, PRKDC, TP53
30	Glioma20	8.4	E2F1, TP53, IGF1R, MDM2, CDKN1A
31	Bladder cancer20	8.4	E2F1, TP53, MDM2, CDKN1A
32	G2-M Phase Transition36	8.4	TP53, MDM2, CDKN1A, ATM, ATR, CHEK2
33	p53 signaling pathway20	8.4	TP53, MDM2, CDKN1A, ATM, ATR, CHEK2
34	Melanoma20	8.3	E2F1, TP53, IGF1R, MDM2, CDKN1A
35	Prostate cancer20	8.3	E2F1, TP53, IGF1R, MDM2, CDKN1A
36	Glioblastoma Multiforme36	8.2	E2F1, TP53, IGF1R, MDM2, CDKN1A
37	Telomerase Components in Cell Signaling36	8.1	TERT, TERF2, TERF1, TP53, IGF1R, IL2
38	Cellular Apoptosis Pathway36	8.0	PML, TP53, IGF1R, MDM2, IL2, ATM
39	Mitochondrial Apoptosis36	7.9	TP53, IGF1R, MDM2, IL2, ATM, CHEK2
40	BRCA1 Pathway36	7.9	E2F1, TP53, FANCF, FANCD2, MRE11A, ATM
41	Chks in Checkpoint Regulation36	7.9	MRE11A, ATM, ATR, CHEK2, CHEK1, RAD17
42	ATM Pathway36	7.8	ATM, CHEK2, CHEK1, RAD50, RAD51, BRCA1
43	p53 Mediated Apoptosis36	7.7	TP53, IGF1R, MDM2, IL2, ATM, ATR
44	Cell cycle20	7.7	TP53, SMC1A, PRKDC, E2F1, MDM2, CDKN1A
45	DNA damage_ATM/ATR regulation of G1/S checkpoint41	7.3	BRCA1, NBN, BLM, CHEK1, CHEK2, SMC1A
46	p53 Signaling36	7.3	CHEK1, BRCA1, CHEK2, UBC, E2F1, SIRT1
47	DNA Repair Mechanisms36	7.2	CHEK2, CHEK1, LIG1, LIG4, RAD17, RAD50
48	DNA Damage3	6.8	TERF2, TERF1, TP53, FANCD2, MDM2, MRE11A
49	Molecular Mechanisms of Cancer36	6.6	E2F1, PRKDC, TP53, TUBG1, IGF1R, FANCD2
50	Cell Cycle / Checkpoint Control3	5.8	MRE11A, ATM, ATR, CHEK2, CHEK1, BLM

Compounds related to nijmegen breakage syndrome according to GeneDecks:

(show top 50)    (show all 97)

id	Compound	Score	Top Affiliating Genes
1	threonine32	10.4	NBN, RPA2
2	roscovitine32	10.2	H2AFX, E2F1
3	tin(2+)32	10.1	RAD50, TERF2, NBN, TERT, MRE11A, TERF1
4	polynucleotide32	10.0	WRN, LIG1, RAD51, LIG4
5	rpa 232	9.6	RPA2, RPA1, RAD51, ATR, CHEK1, FANCD2
6	estrogen32	9.5	NQO1, IGF1R, RAD51, SIRT1, BRCA1, E2F1
7	adozelesin32	9.4	H2AFX, TP53, RPA2
8	bleomycin32 9 9	11.3	BRCA1, DCLRE1C, WRN, H2AFX, NQO1, TP53
9	topotecan32 9 9	11.1	TP53, H2AFX, BRCA1, ATM, CHEK1
10	17-(allylamino)-17-demethoxygeldanamycin32	9.0	CHEK2, CHEK1, CDKN1A, IGF1R, NQO1
11	nacl32	9.0	RAD51, LIG4, ATM, TUBG1, CHEK1, RPA1
12	bromodeoxyuridine32	8.9	IGF1R, PML, RPA1, H2AFX, RPA2, E2F1
13	bpde32	8.9	BRCA1, CHEK1, CHEK2, MDM2, ATM, RPA1
14	7-hydroxystaurosporine32 9 9	10.8	H2AFX, TP53, CDKN1A, CHEK1, RPA2
15	atp32	8.8	ATM, CHEK2, CHEK1, BLM, LIG1, TUBG1
16	benzo(a)pyrene32	8.7	H2AFX, E2F1, NQO1, TP53, MDM2, CDKN1A
17	rapamycin32 42	9.7	NBN, CHEK2, MDM2, IGF1R, TERT, E2F1
18	cytarabine32 34 9 9	11.5	CDKN1A, TP53, LIG1, CHEK1, ATR, ATM
19	caffeine32 34 9 18 9	12.5	RPA2, BRCA1, ATR, CHEK2, CHEK1, LIG1
20	irinotecan32 34 9 9	11.5	WRN, H2AFX, MDM2, CDKN1A, CHEK1, TP53
21	h2o232	8.5	SIRT1, RAD51, CHEK1, CD79A, IGF1R, NQO1
22	adpribose32	8.4	TERT, TERF2, TERF1, TP53, MDM2, CDKN1A
23	melphalan32 9 9	10.3	CD79A, NQO1, TP53, IGF1R, FANCD2, MDM2
24	gemcitabine32 34 9 9	11.3	E2F1, BRCA1, RAD51, CHEK1, CHEK2, CDKN1A
25	temozolomide32 9 9	10.3	CHEK1, TP53, IL2, CDKN1A, CHEK2
26	thymidylate32	8.2	BRCA1, E2F1, RPA1, NQO1, TERT, TP53
27	resveratrol32 9 18 9	11.1	MDM2, IGF1R, TP53, NQO1, CDKN1A, SIRT1
28	arsenite32 18	9.1	H2AFX, NQO1, PML, TERT, TERF2, TERF1
29	lactacystin32	8.1	BRCA1, CDKN1A, MDM2, IGF1R, TP53, E2F1
30	nocodazole32 42 9 9	11.1	CDKN1A, TUBG1, TP53, TERF1, CHEK2, CHEK1
31	oxygen32 18	9.0	H2AFX, BRCA1, LIG1, CHEK1, CHEK2, ATM
32	aphidicolin32	7.9	FANCD2, CDKN1A, ATM, ATR, CHEK2, CHEK1
33	wortmannin32 42	8.8	H2AFX, LIG4, ATR, RAD51, CHEK1, CHEK2
34	genistein32 9 18 9	10.8	BRCA1, IL2, CDKN1A, MDM2, IGF1R, ATM
35	phosphatidylinositol32	7.7	MDM2, NBN, BRCA1, LIG4, CHEK1, H2AFX
36	mitomycin c32	7.6	NBN, BRCA1, RAD51, ATM, MRE11A, IL2
37	methylmethanesulfonate32	7.5	WRN, H2AFX, RPA1, TP53, MDM2, CDKN1A
38	n acetylcysteine32	7.5	CDKN1A, IGF1R, TP53, TERT, NQO1, H2AFX
39	hydroxyurea32 9 9	9.4	RPA1, RPA2, H2AFX, WRN, TP53, NBN
40	paclitaxel32 34 9 9	10.2	IGF1R, BRCA1, RAD51, CHEK1, CDKN1A, MDM2
41	doxorubicin32 34 9 9	10.2	MDM2, E2F1, BRCA1, NQO1, SMC1A, TERT
42	cycloheximide32	7.1	RAD51, CDKN1A, E2F1, NQO1, IL2, MDM2
43	adriamycin32	7.1	CDKN1A, PRKDC, CHEK1, CHEK2, MDM2, IGF1R
44	5fluorouracil32	7.0	BRCA1, E2F1, TERT, TP53, IGF1R, MDM2
45	etoposide32 42 9 9	9.9	TERT, TP53, MDM2, CDKN1A, ATM, ATR
46	thymidine32 18	7.7	BRCA1, CHEK1, CDKN1A, MDM2, IL2, IGF1R
47	oligonucleotide32	6.7	MDM2, IGF1R, CHEK2, CHEK1, LIG1, TERF1
48	cisplatin32 34 9 9	8.9	LIG1, RAD52, RAD51, BRCA1, CHEK1, ATM
49	camptothecin32 42 9 9	8.8	NBN, BRCA1, RAD51, RAD52, RAD50, BLM
50	serine32	5.5	IGF1R, MDM2, IL2, NBN, CDKN1A, BRCA1

Cellular components related to nijmegen breakage syndrome according to GeneDecks:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	Mre11 complex	GO:030870	10.3	TERF2, MRE11A, RAD50, NBN
2	replication fork	GO:005657	10.3	H2AFX, BLM, NBN
3	male germ cell nucleus	GO:001673	10.1	BLM, RPA1, H2AFX
4	nuclear telomere cap complex	GO:000783	9.9	TERF1, TERF2, TERT
5	nonhomologous end joining complex	GO:070419	9.9	LIG4, PRKDC, NHEJ1
6	condensed chromosome	GO:000793	9.7	FANCD2, LIG4, RAD51
7	condensed nuclear chromosome	GO:000794	9.5	H2AFX, RPA1, SMC1A, TUBG1, MRE11A, CHEK1
8	nuclear chromatin	GO:000790	9.3	MRE11A, TP53, H2AFX, SIRT1
9	chromosome, telomeric region	GO:000781	9.1	H2AFX, TERT, TERF2, TERF1, MRE11A, ATM
10	PML body	GO:016605	7.9	TP53, MLIP, ATR, CHEK2, BLM, RAD51
11	nucleolus	GO:005730	7.0	SMC1A, RPA1, RPA2, PRKDC, PML, SIRT1
12	nucleus	GO:005634	4.7	RPA2, RPA1, SMC1A, TERF2, TERF1, TP53
13	nucleoplasm	GO:005654	3.7	E2F1, WRN, SIRT1, PML, PRKDC, H2AFX

Biological processes related to nijmegen breakage syndrome according to GeneDecks:

(show top 50)    (show all 56)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of kinase activity	GO:033674	10.6	MRE11A, RAD50, NBN
2	regulation of mitotic recombination	GO:000019	10.6	MRE11A, RAD50
3	positive regulation of protein autophosphorylation	GO:031954	10.6	NBN, RAD50, MRE11A
4	negative regulation of telomere maintenance via semi-conservative replication	GO:032214	10.5	TERF2, TERF1
5	age-dependent telomere shortening	GO:001309	10.5	TERF2, TERF1
6	nucleotide-excision repair, DNA gap filling	GO:006297	10.4	RPA2, RPA1, LIG1, LIG4
7	DNA duplex unwinding	GO:032508	10.3	WRN, MRE11A, RAD54B, RAD50, NBN
8	G2 phase of mitotic cell cycle	GO:000085	10.3	BLM, KPNA2, E2F1
9	response to ionizing radiation	GO:010212	10.3	NHEJ1, DCLRE1C, H2AFX, ATM, BRCA1
10	DNA damage response, signal transduction resulting in induction of apoptosis	GO:008630	10.3	PML, ATM, CHEK2, BRCA1
11	DNA damage induced protein phosphorylation	GO:006975	10.2	ATM, CHEK2, CHEK1
12	mitotic recombination	GO:006312	10.2	RAD51, RAD52, RAD54B
13	DNA recombinase assembly	GO:000730	10.2	RAD51, RAD52, RPA1, RPA2
14	telomere maintenance via telomere shortening	GO:010834	10.2	TERF1, TERF2
15	telomere maintenance via semi-conservative replication	GO:032201	10.2	RPA2, RPA1, LIG1
16	DNA metabolic process	GO:006259	10.2	WRN, KPNA2, LIG1
17	meiosis	GO:007126	10.2	OSGIN2, H2AFX, RPA1, SMC1A, RAD51, NBN
18	telomere maintenance via telomerase	GO:007004	10.2	TERT, TERF2, TERF1, MRE11A, RAD50
19	G2/M transition DNA damage checkpoint	GO:031572	10.1	ATM, CHEK1, BLM, BRCA1
20	double-strand break repair via nonhomologous end joining	GO:006303	10.1	LIG4, MRE11A, PRKDC, NHEJ1
21	B cell differentiation	GO:030183	10.1	NHEJ1, DCLRE1C, AICDA, CD79A
22	positive regulation of DNA repair	GO:045739	10.1	BRCA1, H2AFX, SIRT1
23	reciprocal meiotic recombination	GO:007131	10.0	MRE11A, ATM, RAD54B, RAD50, RAD52, RAD51
24	DNA recombination	GO:006310	9.8	WRN, NHEJ1, DCLRE1C, RPA1, SMC1A, MRE11A
25	protein destabilization	GO:031648	9.7	MDM2, PRKDC, SIRT1
26	DNA damage checkpoint	GO:000077	9.7	E2F1, H2AFX, ATR, CHEK2, CHEK1, RAD17
27	cell cycle	GO:007049	9.6	TERF2, MDC1, ATR, CHEK1, LIG4, RAD17
28	S phase of mitotic cell cycle	GO:000084	9.6	RPA2, RPA1, CDKN1A, UBC, LIG1
29	nucleotide-excision repair	GO:006289	9.5	LIG1, TP53, RPA1, RPA2
30	DNA replication	GO:006260	9.5	WRN, SIRT1, RPA2, RPA1, ATR, CHEK1
31	negative regulation of DNA replication	GO:008156	9.4	TERF1, TP53, ATR, RAD17
32	cell aging	GO:007569	9.4	WRN, SIRT1, PML, TP53
33	G1/S transition of mitotic cell cycle	GO:000082	9.4	E2F1, RPA2, RPA1, CDKN1A, UBC
34	DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis	GO:042771	9.3	SIRT1, PML, TP53
35	T cell differentiation in thymus	GO:033077	9.2	PRKDC, TP53, LIG4
36	mitotic cell cycle	GO:000278	9.2	E2F1, RPA2, RPA1, SMC1A, TUBG1, CDKN1A
37	cellular response to ionizing radiation	GO:071479	9.2	SIRT1, TP53, CDKN1A
38	double-strand break repair via homologous recombination	GO:000724	9.1	RAD50, RAD54B, LIG1, BLM, ATM, MRE11A
39	response to gamma radiation	GO:010332	9.0	PML, PRKDC, TP53, FANCD2, CHEK2, LIG4
40	telomere maintenance	GO:000723	9.0	RAD50, LIG1, BLM, TERF1, TERF2, TERT
41	cellular response to hypoxia	GO:071456	9.0	E2F1, SIRT1, TP53, MDM2, UBC
42	cell cycle arrest	GO:007050	9.0	PML, TP53, CDKN1A, ATM, NBN
43	T cell lineage commitment	GO:002360	8.9	TP53, PRKDC
44	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	GO:006977	8.5	PML, TP53, MDM2, CDKN1A, ATM, UBC
45	replicative senescence	GO:090399	8.4	TERT, TP53, CDKN1A, ATM, ATR, CHEK2
46	negative regulation of apoptotic process	GO:043066	7.9	SIRT1, TP53, IGF1R, MDM2, CDKN1A, ATM
47	double-strand break repair	GO:006302	7.8	RPA2, H2AFX, DCLRE1C, PRKDC, RPA1, TP53
48	response to DNA damage stimulus	GO:006974	7.6	ATR, ATMIN, ATM, MRE11A, CDKN1A, TP53
49	cell cycle checkpoint	GO:000075	7.5	RAD17, CHEK1, RPA2, CHEK2, UBC, ATR
50	DNA repair	GO:006281	6.8	NBN, MRE11A, ASF1A, MDC1, FANCD2, FANCF

Molecular functions related to nijmegen breakage syndrome according to GeneDecks:

(show all 14)

id	Name	GO ID	Score	Top Affiliating Genes
1	single-stranded DNA specific endodeoxyribonuclease activity	GO:000014	10.4	RAD50, MRE11A, DCLRE1C
2	3-5 exonuclease activity	GO:008408	10.4	RAD50, MRE11A, WRN
3	four-way junction helicase activity	GO:009378	10.3	BLM, WRN
4	ATP-dependent DNA helicase activity	GO:004003	10.3	WRN, MRE11A, BLM, RAD50, NBN
5	G-quadruplex DNA binding	GO:051880	10.3	WRN, BLM
6	DNA ligase activity	GO:003909	10.2	LIG1, LIG4
7	telomeric DNA binding	GO:042162	10.1	TERT, TERF2, TERF1
8	single-stranded DNA binding	GO:003697	10.0	RPA2, RPA1, BLM, RAD51
9	DNA-dependent protein kinase activity	GO:004677	9.9	ATM, PRKDC
10	protein C-terminus binding	GO:008022	9.8	SIRT1, TERF2, MDC1, MRE11A, LIG4, RAD51
11	protein N-terminus binding	GO:047485	9.0	NBN, ATM, TP53, RPA2
12	DNA binding	GO:003677	7.5	TERF1, H2AFX, PRKDC, PML, NHEJ1, WRN
13	ATP binding	GO:005524	6.9	ATR, ATM, IGF1R, TP53, SMC1A, PRKDC
14	protein binding	GO:005515	2.6	E2F1, AICDA, TUBG1, TP53, TERF1, TERF2