Bloom 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_2717)
External Link https://www.disgenet.org/browser/0/1/0/C0005859
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Genes

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

Symbol Name
ACTB actin, beta
ADAM15 ADAM metallopeptidase domain 15
ALPP alkaline phosphatase, placental
ANKH ANKH inorganic pyrophosphate transport regulator
APOBEC3C apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C
APRT adenine phosphoribosyltransferase
ARID5A AT rich interactive domain 5A (MRF1-like)
ASRGL1 asparaginase like 1
ATM ATM serine/threonine kinase
ATR ATR serine/threonine kinase
ATRNL1 attractin-like 1
BLM Bloom syndrome, RecQ helicase-like
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAT catalase
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCL2 chemokine (C-C motif) ligand 2
CCL27 chemokine (C-C motif) ligand 27
CDA cytidine deaminase
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CHEK2 checkpoint kinase 2
CRYGD crystallin, gamma D
CYBB cytochrome b-245, beta polypeptide
CYCS cytochrome c, somatic
CYLD cylindromatosis (turban tumor syndrome)
DDX1 DEAD (Asp-Glu-Ala-Asp) box helicase 1
DMC1 DNA meiotic recombinase 1
DNA2 DNA replication helicase/nuclease 2
EDNRA endothelin receptor type A
EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa
EIF4E eukaryotic translation initiation factor 4E
ESR1 estrogen receptor 1
EXO1 exonuclease 1
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCF Fanconi anemia, complementation group F
FANCM Fanconi anemia, complementation group M
FEN1 flap structure-specific endonuclease 1
FES FES proto-oncogene, tyrosine kinase
FGF2 fibroblast growth factor 2 (basic)
FGF21 fibroblast growth factor 21
FLNB filamin B, beta
FN1 fibronectin 1
FOXR2 forkhead box R2
FXN frataxin
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GPR17 G protein-coupled receptor 17
GYPA glycophorin A (MNS blood group)
GYPB glycophorin B (MNS blood group)
GYPE glycophorin E (MNS blood group)
H2AX H2A.X variant histone
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-A major histocompatibility complex, class I, A
HPSE2 heparanase 2 (inactive)
HSPB1 heat shock 27kDa protein 1
HSPB2 heat shock 27kDa protein 2
HSPB3 heat shock 27kDa protein 3
IFT80 intraflagellar transport 80
IL17A interleukin 17A
IL4 interleukin 4
IL6 interleukin 6
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KRT10 keratin 10, type I
LBR lamin B receptor
LCAT lecithin-cholesterol acyltransferase
LIG1 ligase I, DNA, ATP-dependent
LIG4 ligase IV, DNA, ATP-dependent
LTBP4 latent transforming growth factor beta binding protein 4
MCPH1 microcephalin 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MFAP1 microfibrillar-associated protein 1
MLH1 mutL homolog 1
MMP2 matrix metallopeptidase 2
MPO myeloperoxidase
MS4A12 membrane-spanning 4-domains, subfamily A, member 12
MSH2 mutS homolog 2
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUS81 MUS81 structure-specific endonuclease subunit
MVP major vault protein
MYC v-myc avian myelocytomatosis viral oncogene homolog
NAT10 N-acetyltransferase 10 (GCN5-related)
NCF1 neutrophil cytosolic factor 1
NFE2L2 nuclear factor, erythroid 2-like 2
NOX4 NADPH oxidase 4
NREP neuronal regeneration related protein
NSMCE2 non-SMC element 2, MMS21 homolog (S. cerevisiae)
NXF1 nuclear RNA export factor 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PDLIM3 PDZ and LIM domain 3
PITX3 paired-like homeodomain 3
PKM pyruvate kinase, muscle
PLAT plasminogen activator, tissue
PLAUR plasminogen activator, urokinase receptor
PML promyelocytic leukemia
POLD4 polymerase (DNA-directed), delta 4, accessory subunit
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTPRC protein tyrosine phosphatase, receptor type, C
PTX3 pentraxin 3, long
RAD51 RAD51 recombinase
RAD51D RAD51 paralog D
RAD54L RAD54-like (S. cerevisiae)
RECQL4 RecQ protein-like 4
RIF1 replication timing regulatory factor 1
RMI2 RecQ mediated genome instability 2
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SCN5A sodium channel, voltage gated, type V alpha subunit
SEC14L2 SEC14-like 2 (S. cerevisiae)
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINB3 serpin peptidase inhibitor, clade B (ovalbumin), member 3
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SIRT1 sirtuin 1
SLC12A9 solute carrier family 12, member 9
SLPI secretory leukocyte peptidase inhibitor
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SMR3A submaxillary gland androgen regulated protein 3A
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SPIDR scaffolding protein involved in DNA repair
SUMO2 small ubiquitin-like modifier 2
SUMO3 small ubiquitin-like modifier 3
TCHP trichoplein, keratin filament binding
TGFB1 transforming growth factor, beta 1
THY1 Thy-1 cell surface antigen
TNF tumor necrosis factor
TNMD tenomodulin
TOP2B topoisomerase (DNA) II beta 180kDa
TOP3A topoisomerase (DNA) III alpha
TOPBP1 topoisomerase (DNA) II binding protein 1
TP53 tumor protein p53
TP53BP1 tumor protein p53 binding protein 1
TREX1 three prime repair exonuclease 1
TSLP thymic stromal lymphopoietin
TXN thioredoxin
UBE2I ubiquitin-conjugating enzyme E2I
UNG uracil-DNA glycosylase
USO1 USO1 vesicle transport factor
WRN Werner syndrome, RecQ helicase-like
XPA xeroderma pigmentosum, complementation group A