Fanconi Anemia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0015625
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Genes

403 genes associated with the disease Fanconi Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACAD8 acyl-CoA dehydrogenase family, member 8
ACP1 acid phosphatase 1, soluble
ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide
AFP alpha-fetoprotein
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
ALDH1A1 aldehyde dehydrogenase 1 family, member A1
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ANXA7 annexin A7
AR androgen receptor
ARHGAP24 Rho GTPase activating protein 24
ATAD5 ATPase family, AAA domain containing 5
ATF7IP activating transcription factor 7 interacting protein
ATM ATM serine/threonine kinase
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN1 ataxin 1
BABAM1 BRISC and BRCA1 A complex member 1
BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1
BAX BCL2-associated X protein
BCL2L12 BCL2-like 12 (proline rich)
BCL6 B-cell CLL/lymphoma 6
BCR breakpoint cluster region
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BIK BCL2-interacting killer (apoptosis-inducing)
BLM Bloom syndrome, RecQ helicase-like
BMF Bcl2 modifying factor
BRAP BRCA1 associated protein
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BRMS1 breast cancer metastasis suppressor 1
C17ORF70 chromosome 17 open reading frame 70
C19ORF40 chromosome 19 open reading frame 40
C1ORF86 chromosome 1 open reading frame 86
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CAT catalase
CAV1 caveolin 1, caveolae protein, 22kDa
CCK cholecystokinin
CCL3 chemokine (C-C motif) ligand 3
CCNB1 cyclin B1
CCNE1 cyclin E1
CCR7 chemokine (C-C motif) receptor 7
CD33 CD33 molecule
CD34 CD34 molecule
CD38 CD38 molecule
CD44 CD44 molecule (Indian blood group)
CD48 CD48 molecule
CD68 CD68 molecule
CDC42 cell division cycle 42
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDK1 cyclin-dependent kinase 1
CDK10 cyclin-dependent kinase 10
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CENPE centromere protein E, 312kDa
CENPX centromere protein X
CFL1 cofilin 1 (non-muscle)
CHEK1 checkpoint kinase 1
CHEK2 checkpoint kinase 2
CHMP1A charged multivesicular body protein 1A
CIITA class II, major histocompatibility complex, transactivator
CLCN5 chloride channel, voltage-sensitive 5
COL11A2 collagen, type XI, alpha 2
COX4I1 cytochrome c oxidase subunit IV isoform 1
CPNE3 copine III
CREBBP CREB binding protein
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CT55 cancer/testis antigen 55
CTBP1 C-terminal binding protein 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNS cystinosin, lysosomal cystine transporter
CTSB cathepsin B
CUL4B cullin 4B
CXCR4 chemokine (C-X-C motif) receptor 4
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
DAXX death-domain associated protein
DCLRE1A DNA cross-link repair 1A
DCLRE1B DNA cross-link repair 1B
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DHFR dihydrofolate reductase
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLK1 delta-like 1 homolog (Drosophila)
DNA2 DNA replication helicase/nuclease 2
DNM1L dynamin 1-like
DONSON downstream neighbor of SON
E2F1 E2F transcription factor 1
EDIL3 EGF-like repeats and discoidin I-like domains 3
EFCAB6 EF-hand calcium binding domain 6
EGR1 early growth response 1
EIF2AK2 eukaryotic translation initiation factor 2-alpha kinase 2
EIF4E eukaryotic translation initiation factor 4E
ELOVL6 ELOVL fatty acid elongase 6
ENO1 enolase 1, (alpha)
EPHB2 EPH receptor B2
EPO erythropoietin
ERBB2 erb-b2 receptor tyrosine kinase 2
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ESR1 estrogen receptor 1
EXO1 exonuclease 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
EZR ezrin
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM120B family with sequence similarity 120B
FAN1 FANCD2/FANCI-associated nuclease 1
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCD2OS FANCD2 opposite strand
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FEN1 flap structure-specific endonuclease 1
FHIT fragile histidine triad
FLT3LG fms-related tyrosine kinase 3 ligand
FN1 fibronectin 1
FOXF1 forkhead box F1
FRZB frizzled-related protein
FSD1 fibronectin type III and SPRY domain containing 1
FSD1L fibronectin type III and SPRY domain containing 1-like
FSTL1 follistatin-like 1
FUS FUS RNA binding protein
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
FXN frataxin
GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1
GABRG1 gamma-aminobutyric acid (GABA) A receptor, gamma 1
GAS2 growth arrest-specific 2
GATA3 GATA binding protein 3
GCK glucokinase (hexokinase 4)
GFAP glial fibrillary acidic protein
GGH gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)
GH1 growth hormone 1
GINS2 GINS complex subunit 2 (Psf2 homolog)
GLRX glutaredoxin (thioltransferase)
GOLGA4 golgin A4
GORASP1 golgi reassembly stacking protein 1, 65kDa
GPR132 G protein-coupled receptor 132
GPX4 glutathione peroxidase 4
GRAP2 GRB2-related adaptor protein 2
GSK3B glycogen synthase kinase 3 beta
GSTK1 glutathione S-transferase kappa 1
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GYPA glycophorin A (MNS blood group)
GYPB glycophorin B (MNS blood group)
GYPE glycophorin E (MNS blood group)
H2AX H2A.X variant histone
HBG2 hemoglobin, gamma G
HDAC9 histone deacetylase 9
HES1 hes family bHLH transcription factor 1
HIC1 hypermethylated in cancer 1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HNF4A hepatocyte nuclear factor 4, alpha
HPGDS hematopoietic prostaglandin D synthase
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA4 heat shock 70kDa protein 4
ICAM1 intercellular adhesion molecule 1
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL10 interleukin 10
IL17RB interleukin 17 receptor B
IL1B interleukin 1, beta
IL2 interleukin 2
IL3 interleukin 3
IL3RA interleukin 3 receptor, alpha (low affinity)
IL6 interleukin 6
IMMT inner membrane protein, mitochondrial
INHBA inhibin, beta A
INSR insulin receptor
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
JAK2 Janus kinase 2
KAT5 K(lysine) acetyltransferase 5
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KMT2A lysine (K)-specific methyltransferase 2A
LMNA lamin A/C
LPL lipoprotein lipase
LRP2 low density lipoprotein receptor-related protein 2
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK8 mitogen-activated protein kinase 8
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MBD2 methyl-CpG binding domain protein 2
MCM10 minichromosome maintenance complex component 10
MCM4 minichromosome maintenance complex component 4
MCM6 minichromosome maintenance complex component 6
ME1 malic enzyme 1, NADP(+)-dependent, cytosolic
MECOM MDS1 and EVI1 complex locus
MECP2 methyl CpG binding protein 2
MEF2C myocyte enhancer factor 2C
MEN1 multiple endocrine neoplasia I
MGMT O-6-methylguanine-DNA methyltransferase
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MMP2 matrix metallopeptidase 2
MMP7 matrix metallopeptidase 7
MMP9 matrix metallopeptidase 9
MRC1 mannose receptor, C type 1
MRE11 MRE11 homolog, double strand break repair nuclease
MRPL36 mitochondrial ribosomal protein L36
MSC musculin
MSH2 mutS homolog 2
MSH3 mutS homolog 3
MSH6 mutS homolog 6
MTDH metadherin
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUL1 mitochondrial E3 ubiquitin protein ligase 1
MX1 MX dynamin-like GTPase 1
MYH2 myosin, heavy chain 2, skeletal muscle, adult
MYH4 myosin, heavy chain 4, skeletal muscle
NBN nibrin
NCAM1 neural cell adhesion molecule 1
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NEIL1 nei endonuclease VIII-like 1 (E. coli)
NEIL3 nei endonuclease VIII-like 3 (E. coli)
NLN neurolysin (metallopeptidase M3 family)
NLRP2 NLR family, pyrin domain containing 2
NME1 NME/NM23 nucleoside diphosphate kinase 1
NOTCH1 notch 1
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NQO1 NAD(P)H dehydrogenase, quinone 1
NTHL1 nth endonuclease III-like 1 (E. coli)
OCRL oculocerebrorenal syndrome of Lowe
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN4 opsin 4
OPRM1 opioid receptor, mu 1
PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PALB2 partner and localizer of BRCA2
PARK2 parkin RBR E3 ubiquitin protein ligase
PARP1 poly (ADP-ribose) polymerase 1
PARPBP PARP1 binding protein
PAX6 paired box 6
PCBP4 poly(rC) binding protein 4
PCNA proliferating cell nuclear antigen
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
PGR progesterone receptor
PHF1 PHD finger protein 1
PHGDH phosphoglycerate dehydrogenase
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1
PKNOX2 PBX/knotted 1 homeobox 2
PLK2 polo-like kinase 2
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POC1A POC1 centriolar protein A
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POLG polymerase (DNA directed), gamma
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PRDX6 peroxiredoxin 6
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PRTN3 proteinase 3
PSEN1 presenilin 1
PSMA7 proteasome (prosome, macropain) subunit, alpha type, 7
PSPH phosphoserine phosphatase
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTPRU protein tyrosine phosphatase, receptor type, U
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RACK1 receptor for activated C kinase 1
RAD18 RAD18 E3 ubiquitin protein ligase
RAD50 RAD50 homolog (S. cerevisiae)
RAD51 RAD51 recombinase
RAD51B RAD51 paralog B
RAD51C RAD51 paralog C
RAD51D RAD51 paralog D
RAD52 RAD52 homolog (S. cerevisiae)
RB1 retinoblastoma 1
RBBP8 retinoblastoma binding protein 8
RBM45 RNA binding motif protein 45
RECQL4 RecQ protein-like 4
REG1A regenerating islet-derived 1 alpha
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RETN resistin
REV1 REV1, polymerase (DNA directed)
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RFWD3 ring finger and WD repeat domain 3
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RNF4 ring finger protein 4
RNF8 ring finger protein 8, E3 ubiquitin protein ligase
ROMO1 reactive oxygen species modulator 1
RPA1 replication protein A1, 70kDa
RPA2 replication protein A2, 32kDa
RPS19 ribosomal protein S19
RUNX1 runt-related transcription factor 1
RUNX3 runt-related transcription factor 3
RUVBL1 RuvB-like AAA ATPase 1
RUVBL2 RuvB-like AAA ATPase 2
SALL4 spalt-like transcription factor 4
SCT secretin
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SETBP1 SET binding protein 1
SFRP1 secreted frizzled-related protein 1
SH2B3 SH2B adaptor protein 3
SLC12A9 solute carrier family 12, member 9
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SNU13 small nuclear ribonucleoprotein 13
SNX5 sorting nexin 5
SOAT1 sterol O-acyltransferase 1
SOD2 superoxide dismutase 2, mitochondrial
SPP1 secreted phosphoprotein 1
SPTA1 spectrin, alpha, erythrocytic 1
SPTAN1 spectrin, alpha, non-erythrocytic 1
SPTBN1 spectrin, beta, non-erythrocytic 1
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
STMN1 stathmin 1
SYF2 SYF2 pre-mRNA-splicing factor
SYT1 synaptotagmin I
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TBPL1 TBP-like 1
TBX1 T-box 1
TELO2 telomere maintenance 2
TERF2 telomeric repeat binding factor 2
TGFB1 transforming growth factor, beta 1
TH tyrosine hydroxylase
TIGAR TP53 induced glycolysis regulatory phosphatase
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TLR2 toll-like receptor 2
TLR7 toll-like receptor 7
TLR8 toll-like receptor 8
TNF tumor necrosis factor
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TOP1 topoisomerase (DNA) I
TP53 tumor protein p53
TP53BP1 tumor protein p53 binding protein 1
TP73 tumor protein p73
TPO thyroid peroxidase
TRAF2 TNF receptor-associated factor 2
TRAIP TRAF interacting protein
TTK TTK protein kinase
TTR transthyretin
TXN thioredoxin
TYRO3 TYRO3 protein tyrosine kinase
UBE2B ubiquitin-conjugating enzyme E2B
UBE2T ubiquitin-conjugating enzyme E2T
UBL5 ubiquitin-like 5
UCN urocortin
UHRF1 ubiquitin-like with PHD and ring finger domains 1
UIMC1 ubiquitin interaction motif containing 1
USP1 ubiquitin specific peptidase 1
USP11 ubiquitin specific peptidase 11
USP16 ubiquitin specific peptidase 16
USP48 ubiquitin specific peptidase 48
VCAM1 vascular cell adhesion molecule 1
VIM vimentin
VPS9D1 VPS9 domain containing 1
VRK2 vaccinia related kinase 2
WDR48 WD repeat domain 48
WEE1 WEE1 G2 checkpoint kinase
WNK1 WNK lysine deficient protein kinase 1
WNT5A wingless-type MMTV integration site family, member 5A
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
XPO1 exportin 1
XPR1 xenotropic and polytropic retrovirus receptor 1
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6
ZBTB32 zinc finger and BTB domain containing 32
ZBTB7A zinc finger and BTB domain containing 7A
ZEB1 zinc finger E-box binding homeobox 1
ZNF236 zinc finger protein 236
ZNF276 zinc finger protein 276
ZNF645 zinc finger protein 645