fanconi's anemia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. (Human Disease Ontology, DOID_13636)
Similar Terms
Downloads & Tools

Genes

219 genes co-occuring with the disease fanconi's anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
FANCD2 Fanconi anemia, complementation group D2 3.4012
FANCA Fanconi anemia, complementation group A 3.19223
FANCC Fanconi anemia, complementation group C 2.96927
FANCI Fanconi anemia, complementation group I 2.57165
BRIP1 BRCA1 interacting protein C-terminal helicase 1 2.50071
FANCM Fanconi anemia, complementation group M 2.49857
FANCF Fanconi anemia, complementation group F 2.34478
FANCL Fanconi anemia, complementation group L 2.18871
FANCE Fanconi anemia, complementation group E 2.15768
BRCA2 breast cancer 2, early onset 2.11048
FANCG Fanconi anemia, complementation group G 2.07487
RAD51 RAD51 recombinase 2.0491
SLX4 SLX4 structure-specific endonuclease subunit 1.98343
C19ORF40 chromosome 19 open reading frame 40 1.94266
PALB2 partner and localizer of BRCA2 1.94031
BRCA1 breast cancer 1, early onset 1.92342
FAN1 FANCD2/FANCI-associated nuclease 1 1.92061
USP1 ubiquitin specific peptidase 1 1.78985
RAD51C RAD51 paralog C 1.73595
UBE2T ubiquitin-conjugating enzyme E2T 1.70998
RAD18 RAD18 E3 ubiquitin protein ligase 1.69678
ERCC4 excision repair cross-complementation group 4 1.6651
WDR48 WD repeat domain 48 1.6543
STRA13 stimulated by retinoic acid 13 1.65025
MUS81 MUS81 structure-specific endonuclease subunit 1.57245
FANCB Fanconi anemia, complementation group B 1.51853
C17ORF70 chromosome 17 open reading frame 70 1.51062
DDX11L8 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 8 1.37512
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 1.37512
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 1.37512
ATM ATM serine/threonine kinase 1.35681
DCLRE1A DNA cross-link repair 1A 1.34635
CHEK1 checkpoint kinase 1 1.32803
APITD1 apoptosis-inducing, TAF9-like domain 1 1.26081
H2AFX H2A histone family, member X 1.19273
RAD50 RAD50 homolog (S. cerevisiae) 1.1507
ATRIP ATR interacting protein 1.14687
GGNBP1 gametogenetin binding protein 1 (pseudogene) 1.10594
ZBTB32 zinc finger and BTB domain containing 32 1.09293
RNF8 ring finger protein 8, E3 ubiquitin protein ligase 1.0648
PARK2 parkin RBR E3 ubiquitin protein ligase 1.05934
ERCC1 excision repair cross-complementation group 1 1.05261
BLM Bloom syndrome, RecQ helicase-like 1.03282
REV1 REV1, polymerase (DNA directed) 1.01216
XPA xeroderma pigmentosum, complementation group A 1.01132
USP12 ubiquitin specific peptidase 12 0.986849
SNX5 sorting nexin 5 0.959123
USP46 ubiquitin specific peptidase 46 0.949936
INTS7 integrator complex subunit 7 0.949519
UBE2H ubiquitin-conjugating enzyme E2H 0.94369
CD34 CD34 molecule 0.926279
LIG4 ligase IV, DNA, ATP-dependent 0.90732
WRN Werner syndrome, RecQ helicase-like 0.906909
TP53 tumor protein p53 0.901156
IGHV4-39 immunoglobulin heavy variable 4-39 0.890898
XPC xeroderma pigmentosum, complementation group C 0.889668
TOPBP1 topoisomerase (DNA) II binding protein 1 0.852402
TOP3A topoisomerase (DNA) III alpha 0.847898
ZBTB16 zinc finger and BTB domain containing 16 0.845031
ATAD5 ATPase family, AAA domain containing 5 0.828639
SPTAN1 spectrin, alpha, non-erythrocytic 1 0.828229
PRKDC protein kinase, DNA-activated, catalytic polypeptide 0.802795
MLH1 mutL homolog 1 0.800744
GPR132 G protein-coupled receptor 132 0.796642
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 0.792131
RAD51AP1 RAD51 associated protein 1 0.788852
XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3 0.782707
RNF168 ring finger protein 168, E3 ubiquitin protein ligase 0.780251
JPH4 junctophilin 4 0.763494
TELO2 telomere maintenance 2 0.761862
PCNA proliferating cell nuclear antigen 0.755342
EXD2 exonuclease 3'-5' domain containing 2 0.746391
HELQ helicase, POLQ-like 0.734622
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit 0.703536
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2 0.700722
RMI2 RecQ mediated genome instability 2 0.688291
ERCC2 excision repair cross-complementation group 2 0.686291
RECQL RecQ helicase-like 0.685091
MCM9 minichromosome maintenance complex component 9 0.66914
UBE2W ubiquitin-conjugating enzyme E2W (putative) 0.646953
PSMA7 proteasome (prosome, macropain) subunit, alpha type, 7 0.646165
RNF144B ring finger protein 144B 0.642221
EME1 essential meiotic structure-specific endonuclease 1 0.634742
PARP1 poly (ADP-ribose) polymerase 1 0.632384
GGN gametogenetin 0.625319
ERCC8 excision repair cross-complementation group 8 0.624143
POLN polymerase (DNA directed) nu 0.620226
TNF tumor necrosis factor 0.61162
MDC1 mediator of DNA-damage checkpoint 1 0.60225
NSG1 neuron specific gene family member 1 0.591727
CHMP1A charged multivesicular body protein 1A 0.586665
RMI1 RecQ mediated genome instability 1 0.576939
SCAPER S-phase cyclin A-associated protein in the ER 0.574994
UIMC1 ubiquitin interaction motif containing 1 0.574605
RAD9A RAD9 homolog A (S. pombe) 0.566443
EXO1 exonuclease 1 0.557509
RECQL5 RecQ protein-like 5 0.553239
IPO4 importin 4 0.550522
RAD52 RAD52 homolog (S. cerevisiae) 0.543542
DNA2 DNA replication helicase/nuclease 2 0.529994
LIG1 ligase I, DNA, ATP-dependent 0.525746
DNAH8 dynein, axonemal, heavy chain 8 0.52343
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4 0.521117
DKC1 dyskeratosis congenita 1, dyskerin 0.521117
NEIL1 nei endonuclease VIII-like 1 (E. coli) 0.520731
SPHAR S-phase response (cyclin related) 0.514956
GGNBP2 gametogenetin binding protein 2 0.50689
UBE2N ubiquitin-conjugating enzyme E2N 0.502292
PSMB3 proteasome (prosome, macropain) subunit, beta type, 3 0.494266
CTBP1 C-terminal binding protein 1 0.493122
ENY2 enhancer of yellow 2 homolog (Drosophila) 0.491597
HLA-C major histocompatibility complex, class I, C 0.489311
RAD17 RAD17 homolog (S. pombe) 0.489311
ZFP36L2 ZFP36 ring finger protein-like 2 0.473361
USP11 ubiquitin specific peptidase 11 0.468819
MSH2 mutS homolog 2 0.466928
IL3 interleukin 3 0.46466
YIPF4 Yip1 domain family, member 4 0.464283
ETV7 ets variant 7 0.462016
PSMD14 proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 0.461639
STAT1 signal transducer and activator of transcription 1, 91kDa 0.458241
IRF1 interferon regulatory factor 1 0.455978
ERCC6 excision repair cross-complementation group 6 0.452585
TERF1 telomeric repeat binding factor (NIMA-interacting) 1 0.447687
ERCC5 excision repair cross-complementation group 5 0.438658
CHEK2 checkpoint kinase 2 0.438282
FEN1 flap structure-specific endonuclease 1 0.435275
TOP1 topoisomerase (DNA) I 0.435275
USP9X ubiquitin specific peptidase 9, X-linked 0.433397
SOD2 superoxide dismutase 2, mitochondrial 0.430768
RPA1 replication protein A1, 70kDa 0.429642
CDK12 cyclin-dependent kinase 12 0.429642
RAD51D RAD51 paralog D 0.424389
HPRT1 hypoxanthine phosphoribosyltransferase 1 0.422515
RECQL4 RecQ protein-like 4 0.418019
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6 0.400826
KLK12 kallikrein-related peptidase 12 0.398589
OTP orthopedia homeobox 0.39598
TXN thioredoxin 0.387051
NHEJ1 nonhomologous end-joining factor 1 0.381852
AGGF1 angiogenic factor with G patch and FHA domains 1 0.379626
ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1 0.377402
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) 0.37555
CDK10 cyclin-dependent kinase 10 0.372587
DCLRE1C DNA cross-link repair 1C 0.366671
CAND1 cullin-associated and neddylation-dissociated 1 0.359289
TDP2 tyrosyl-DNA phosphodiesterase 2 0.344207
BUB1 BUB1 mitotic checkpoint serine/threonine kinase 0.337975
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2 0.333583
ADH6 alcohol dehydrogenase 6 (class V) 0.331391
RPS3 ribosomal protein S3 0.329565
HIST3H2BB histone cluster 3, H2bb 0.326646
HIST2H2BF histone cluster 2, H2bf 0.325187
HIST1H2BA histone cluster 1, H2ba 0.322637
HIST1H2BH histone cluster 1, H2bh 0.322273
HIST1H2BD histone cluster 1, H2bd 0.322273
PSMA1 proteasome (prosome, macropain) subunit, alpha type, 1 0.320454
SCAI suppressor of cancer cell invasion 0.318635
SLC4A3 solute carrier family 4 (anion exchanger), member 3 0.318272
ATR ATR serine/threonine kinase 0.317909
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) 0.313552
HIST1H2BC histone cluster 1, H2bc 0.30848
HIST1H2BF histone cluster 1, H2bf 0.30848
IRAK2 interleukin-1 receptor-associated kinase 2 0.306672
CSF2 colony stimulating factor 2 (granulocyte-macrophage) 0.30631
BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1 0.30342
HUS1 HUS1 checkpoint homolog (S. pombe) 0.300173
MIR181C microRNA 181c 0.299452
CLSPN claspin 0.284013
DGAT2L6 diacylglycerol O-acyltransferase 2-like 6 0.280439
MAGED2 melanoma antigen family D2 0.279724
CAT catalase 0.27687
RBBP8 retinoblastoma binding protein 8 0.273308
OAZ3 ornithine decarboxylase antizyme 3 0.272953
POLM polymerase (DNA directed), mu 0.271886
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 0.267977
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 0.266558
CBX3 chromobox homolog 3 0.263014
BRAP BRCA1 associated protein 0.26266
MSH6 mutS homolog 6 0.262306
SBDS Shwachman-Bodian-Diamond syndrome 0.25877
SNN stannin 0.257358
FLT3 fms-related tyrosine kinase 3 0.25207
PSPH phosphoserine phosphatase 0.249608
MORF4 mortality factor 4 (pseudogene) 0.247501
UNC5A unc-5 homolog A (C. elegans) 0.246448
NHP2 NHP2 ribonucleoprotein 0.240497
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.237009
NBN nibrin 0.236312
CASP3 caspase 3, apoptosis-related cysteine peptidase 0.235964
PGK1 phosphoglycerate kinase 1 0.230409
EIF2AK2 eukaryotic translation initiation factor 2-alpha kinase 2 0.227642
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) 0.222479
HGS hepatocyte growth factor-regulated tyrosine kinase substrate 0.221793
RUNX1 runt-related transcription factor 1 0.213959
TLR8 toll-like receptor 8 0.211934
NTHL1 nth endonuclease III-like 1 (E. coli) 0.201308
ARID4A AT rich interactive domain 4A (RBP1-like) 0.199356
DDN dendrin 0.198064
HMOX2 heme oxygenase 2 0.195183
VAV1 vav 1 guanine nucleotide exchange factor 0.189551
XPO1 exportin 1 0.18591
KITLG KIT ligand 0.184128
APEH acylaminoacyl-peptide hydrolase 0.182957
RBM15 RNA binding motif protein 15 0.177576
CENPE centromere protein E, 312kDa 0.174881
MPL MPL proto-oncogene, thrombopoietin receptor 0.172038
RBX1 ring-box 1, E3 ubiquitin protein ligase 0.171036
GSTA2 glutathione S-transferase alpha 2 0.171036
PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 0.170789
MSH3 mutS homolog 3 0.170054
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) 0.169812
ZBTB7A zinc finger and BTB domain containing 7A 0.169571
S100P S100 calcium binding protein P 0.165874
ATP1A4 ATPase, Na+/K+ transporting, alpha 4 polypeptide 0.165655
TPR translocated promoter region, nuclear basket protein 0.164359
PARP2 poly (ADP-ribose) polymerase 2 0.160387
DDX53 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 0.160203
IL20RA interleukin 20 receptor, alpha 0.160203