Nijmegen Breakage Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_7400)
External Link https://www.disgenet.org/browser/0/1/0/C2751318
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Genes

88 genes associated with the disease Nijmegen Breakage Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AFP alpha-fetoprotein
ANXA6 annexin A6
ARID5B AT rich interactive domain 5B (MRF1-like)
ARL6 ADP-ribosylation factor-like 6
ATM ATM serine/threonine kinase
ATR ATR serine/threonine kinase
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS7 Bardet-Biedl syndrome 7
BRCA1 breast cancer 1, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CBX5 chromobox homolog 5
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
COL11A2 collagen, type XI, alpha 2
ELANE elastase, neutrophil expressed
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
FANCB Fanconi anemia, complementation group B
FANCD2 Fanconi anemia, complementation group D2
FANCF Fanconi anemia, complementation group F
H2AX H2A.X variant histone
HCAR1 hydroxycarboxylic acid receptor 1
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IFT172 intraflagellar transport 172
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL18 interleukin 18
IL2 interleukin 2
IL5 interleukin 5
KLF4 Kruppel-like factor 4 (gut)
KMT2A lysine (K)-specific methyltransferase 2A
KPNA2 karyopherin alpha 2 (RAG cohort 1, importin alpha 1)
KRT20 keratin 20, type I
LCK LCK proto-oncogene, Src family tyrosine kinase
LIG4 ligase IV, DNA, ATP-dependent
LIN28A lin-28 homolog A (C. elegans)
MCPH1 microcephalin 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MIB1 mindbomb E3 ubiquitin protein ligase 1
MKKS McKusick-Kaufman syndrome
MRE11 MRE11 homolog, double strand break repair nuclease
MRPL36 mitochondrial ribosomal protein L36
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MYC v-myc avian myelocytomatosis viral oncogene homolog
NANOG Nanog homeobox
NBN nibrin
NHEJ1 nonhomologous end-joining factor 1
NLRP2 NLR family, pyrin domain containing 2
NME1 NME/NM23 nucleoside diphosphate kinase 1
PARP1 poly (ADP-ribose) polymerase 1
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PECAM1 platelet/endothelial cell adhesion molecule 1
PHGDH phosphoglycerate dehydrogenase
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
POLH polymerase (DNA directed), eta
POLQ polymerase (DNA directed), theta
POU5F1 POU class 5 homeobox 1
PTEN phosphatase and tensin homolog
RAD50 RAD50 homolog (S. cerevisiae)
RAD52 RAD52 homolog (S. cerevisiae)
RAD54B RAD54 homolog B (S. cerevisiae)
SIRT1 sirtuin 1
SLC12A9 solute carrier family 12, member 9
SMC1A structural maintenance of chromosomes 1A
SOX2 SRY (sex determining region Y)-box 2
TBPL1 TBP-like 1
TERF1 telomeric repeat binding factor (NIMA-interacting) 1
TERF2 telomeric repeat binding factor 2
TERT telomerase reverse transcriptase
TMED3 transmembrane emp24 protein transport domain containing 3
TMPRSS2 transmembrane protease, serine 2
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TP53 tumor protein p53
TRH thyrotropin-releasing hormone
TTC8 tetratricopeptide repeat domain 8
UBASH3B ubiquitin associated and SH3 domain containing B
VEGFA vascular endothelial growth factor A
XPC xeroderma pigmentosum, complementation group C
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6