Chromosome Aberrations Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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Genes

261 genes associated with the Chromosome Aberrations phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACE angiotensin I converting enzyme
ACP1 acid phosphatase 1, soluble
ACVRL1 activin A receptor type II-like 1
ADD3 adducin 3 (gamma)
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
APC adenomatous polyposis coli
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOE apolipoprotein E
AR androgen receptor
ARL11 ADP-ribosylation factor-like 11
ASXL1 additional sex combs like transcriptional regulator 1
ATM ATM serine/threonine kinase
ATP10A ATPase, class V, type 10A
ATP7B ATPase, Cu++ transporting, beta polypeptide
AURKA aurora kinase A
BAK1 BCL2-antagonist/killer 1
BAX BCL2-associated X protein
BCL2 B-cell CLL/lymphoma 2
BCL6 B-cell CLL/lymphoma 6
BDNF brain-derived neurotrophic factor
BID BH3 interacting domain death agonist
BIRC2 baculoviral IAP repeat containing 2
BLMH bleomycin hydrolase
BMP4 bone morphogenetic protein 4
BMPR1A bone morphogenetic protein receptor, type IA
BNC1 basonuclin 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRF1 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CASP1 caspase 1, apoptosis-related cysteine peptidase
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBLB Cbl proto-oncogene B, E3 ubiquitin protein ligase
CBX7 chromobox homolog 7
CCND1 cyclin D1
CD44 CD44 molecule (Indian blood group)
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDK2 cyclin-dependent kinase 2
CDK8 cyclin-dependent kinase 8
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2B-AS1 CDKN2B antisense RNA 1
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal)
COL11A1 collagen, type XI, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COLCA1 colorectal cancer associated 1
COLCA2 colorectal cancer associated 2
COMT catechol-O-methyltransferase
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTTN cortactin
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
DCC DCC netrin 1 receptor
DKK4 dickkopf WNT signaling pathway inhibitor 4
DLC1 DLC1 Rho GTPase activating protein
DLEU1 deleted in lymphocytic leukemia 1 (non-protein coding)
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DROSHA drosha, ribonuclease type III
E2F5 E2F transcription factor 5, p130-binding
EBF1 early B-cell factor 1
EDN1 endothelin 1
EFHC1 EF-hand domain (C-terminal) containing 1
EFNA4 ephrin-A4
EFNB1 ephrin-B1
EGFR epidermal growth factor receptor
ENAH enabled homolog (Drosophila)
ENG endoglin
EPHB2 EPH receptor B2
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB4 erb-b2 receptor tyrosine kinase 4
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
ERCC6 excision repair cross-complementation group 6
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM20C family with sequence similarity 20, member C
FARP2 FERM, RhoGEF and pleckstrin domain protein 2
FBLN2 fibulin 2
FGF10 fibroblast growth factor 10
FGF12 fibroblast growth factor 12
FGF3 fibroblast growth factor 3
FGF6 fibroblast growth factor 6
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FLT1 fms-related tyrosine kinase 1
FLT3 fms-related tyrosine kinase 3
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FOXC1 forkhead box C1
FOXF2 forkhead box F2
FPGS folylpolyglutamate synthase
GATA4 GATA binding protein 4
GCH1 GTP cyclohydrolase 1
GEMIN4 gem (nuclear organelle) associated protein 4
GGH gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)
GHRHR growth hormone releasing hormone receptor
GJB2 gap junction protein, beta 2, 26kDa
GLI3 GLI family zinc finger 3
GSTA1 glutathione S-transferase alpha 1
GSTA2 glutathione S-transferase alpha 2
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
HFE hemochromatosis
HLX H2.0-like homeobox
HOMER2 homer scaffolding protein 2
HYKK hydroxylysine kinase
HYLS1 hydrolethalus syndrome 1
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFNG interferon, gamma
IGH immunoglobulin heavy locus
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL10 interleukin 10
IL12B interleukin 12B
IL2 interleukin 2
INSIG2 insulin induced gene 2
IRF4 interferon regulatory factor 4
IRF6 interferon regulatory factor 6
JAG2 jagged 2
JAK2 Janus kinase 2
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNH1 potassium channel, voltage gated eag related subfamily H, member 1
KCNK2 potassium channel, two pore domain subfamily K, member 2
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLK3 kallikrein-related peptidase 3
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
LBR lamin B receptor
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LRRK2 leucine-rich repeat kinase 2
LZTS1 leucine zipper, putative tumor suppressor 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEP1A meprin A, alpha (PABA peptide hydrolase)
MGA MGA, MAX dimerization protein
MIR16-1 microRNA 16-1
MIR29B2 microRNA 29b-2
MIR29C microRNA 29c
MME membrane metallo-endopeptidase
MPG N-methylpurine-DNA glycosylase
MPO myeloperoxidase
MTA1 metastasis associated 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MUTYH mutY homolog
MVP major vault protein
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYNN myoneurin
MYOG myogenin (myogenic factor 4)
NAIP NLR family, apoptosis inhibitory protein
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NBN nibrin
NCAM1 neural cell adhesion molecule 1
NDE1 nudE neurodevelopment protein 1
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2
NLRP2 NLR family, pyrin domain containing 2
NOTCH1 notch 1
NOTCH3 notch 3
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NQO1 NAD(P)H dehydrogenase, quinone 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NTAN1 N-terminal asparagine amidase
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OGG1 8-oxoguanine DNA glycosylase
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PAN3 PAN3 poly(A) specific ribonuclease subunit
PARP1 poly (ADP-ribose) polymerase 1
PARP4 poly (ADP-ribose) polymerase family, member 4
PCSK9 proprotein convertase subtilisin/kexin type 9
PDGFA platelet-derived growth factor alpha polypeptide
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLA2G5 phospholipase A2, group V
POGLUT1 protein O-glucosyltransferase 1
PPP2R2A protein phosphatase 2, regulatory subunit B, alpha
PRKD2 protein kinase D2
PSORS1C2 psoriasis susceptibility 1 candidate 2
PTEN phosphatase and tensin homolog
PTK2 protein tyrosine kinase 2
PTP4A3 protein tyrosine phosphatase type IVA, member 3
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRS protein tyrosine phosphatase, receptor type, S
RAB27A RAB27A, member RAS oncogene family
RAD23B RAD23 homolog B (S. cerevisiae)
RAD51 RAD51 recombinase
RAG1 recombination activating gene 1
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RB1 retinoblastoma 1
RFC1 replication factor C (activator 1) 1, 145kDa
RGS1 regulator of G-protein signaling 1
RHAG Rh-associated glycoprotein
RICTOR RPTOR independent companion of MTOR, complex 2
RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)
RNF139 ring finger protein 139
RUNX1 runt-related transcription factor 1
S100A3 S100 calcium binding protein A3
SETBP1 SET binding protein 1
SGCE sarcoglycan, epsilon
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC25A27 solute carrier family 25, member 27
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLCO3A1 solute carrier organic anion transporter family, member 3A1
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SNAI2 snail family zinc finger 2
SOD2 superoxide dismutase 2, mitochondrial
SOX7 SRY (sex determining region Y)-box 7
SPRED1 sprouty-related, EVH1 domain containing 1
SRSF2 serine/arginine-rich splicing factor 2
ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2
SULF1 sulfatase 1
TAOK2 TAO kinase 2
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1
TBX1 T-box 1
TET2 tet methylcytosine dioxygenase 2
TLR4 toll-like receptor 4
TNC tenascin C
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF21 tumor necrosis factor receptor superfamily, member 21
TOP2A topoisomerase (DNA) II alpha 170kDa
TP53 tumor protein p53
TPH1 tryptophan hydroxylase 1
TRAF3 TNF receptor-associated factor 3
TRIM29 tripartite motif containing 29
TRIO trio Rho guanine nucleotide exchange factor
TUSC3 tumor suppressor candidate 3
TWIST1 twist family bHLH transcription factor 1
UBE3A ubiquitin protein ligase E3A
USP17L2 ubiquitin specific peptidase 17-like family member 2
VEGFA vascular endothelial growth factor A
WNT7A wingless-type MMTV integration site family, member 7A
WT1 Wilms tumor 1
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 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
ZFHX4 zinc finger homeobox 4