aberrations Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
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Genes

181 genes co-occuring with the biological term aberrations in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ADRB2 adrenoceptor beta 2, surface
ADRB3 adrenoceptor beta 3
AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
AICDA activation-induced cytidine deaminase
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALK anaplastic lymphoma receptor tyrosine kinase
APC adenomatous polyposis coli
AR androgen receptor
ARX aristaless related homeobox
ASXL1 additional sex combs like transcriptional regulator 1
ATAD2 ATPase family, AAA domain containing 2
ATM ATM serine/threonine kinase
AURKA aurora kinase A
AURKB aurora kinase B
B2M beta-2-microglobulin
BEX2 brain expressed X-linked 2
BMI1 BMI1 proto-oncogene, polycomb ring finger
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3
BOLA1 bolA family member 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRCA3 breast cancer 3
BTRC beta-transducin repeat containing E3 ubiquitin protein ligase
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CBFB core-binding factor, beta subunit
CCNA2 cyclin A2
CCND1 cyclin D1
CCND2 cyclin D2
CCNE1 cyclin E1
CD177 CD177 molecule
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDK4 cyclin-dependent kinase 4
CDKL5 cyclin-dependent kinase-like 5
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CHEK2 checkpoint kinase 2
CIC capicua transcriptional repressor
COMT catechol-O-methyltransferase
CORIN corin, serine peptidase
CREBBP CREB binding protein
CTBP1 C-terminal binding protein 1
CTBP2 C-terminal binding protein 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNNBIP1 catenin, beta interacting protein 1
CTNND1 catenin (cadherin-associated protein), delta 1
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
DCC DCC netrin 1 receptor
DDX6 DEAD (Asp-Glu-Ala-Asp) box helicase 6
DISP1 dispatched homolog 1 (Drosophila)
DLK1 delta-like 1 homolog (Drosophila)
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DPP4 dipeptidyl-peptidase 4
EDNRB endothelin receptor type B
EGFR epidermal growth factor receptor
EMP3 epithelial membrane protein 3
EPAS1 endothelial PAS domain protein 1
ERBB2 erb-b2 receptor tyrosine kinase 2
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ESR1 estrogen receptor 1
ETV1 ets variant 1
ETV6 ets variant 6
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F8 coagulation factor VIII, procoagulant component
FAT1 FAT atypical cadherin 1
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FGFR2 fibroblast growth factor receptor 2
FHIT fragile histidine triad
FLT3 fms-related tyrosine kinase 3
FOXC1 forkhead box C1
FOXP1 forkhead box P1
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
HFE hemochromatosis
HMGA2 high mobility group AT-hook 2
HOXA9 homeobox A9
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IGFBP1 insulin-like growth factor binding protein 1
IGH immunoglobulin heavy locus
IRF8 interferon regulatory factor 8
JAK2 Janus kinase 2
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT24 keratin 24, type I
L1TD1 LINE-1 type transposase domain containing 1
LMNA lamin A/C
LSAMP limbic system-associated membrane protein
MALT1 MALT1 paracaspase
MAPT microtubule-associated protein tau
MDM4 MDM4, p53 regulator
MECP2 methyl CpG binding protein 2
MEG3 maternally expressed 3 (non-protein coding)
MEIS1 Meis homeobox 1
MEN1 multiple endocrine neoplasia I
MEST mesoderm specific transcript
MET MET proto-oncogene, receptor tyrosine kinase
MGMT O-6-methylguanine-DNA methyltransferase
MIR155 microRNA 155
MKI67 marker of proliferation Ki-67
MMP12 matrix metallopeptidase 12
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MSH2 mutS homolog 2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYBL2 v-myb avian myeloblastosis viral oncogene homolog-like 2
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYD88 myeloid differentiation primary response 88
NAGS N-acetylglutamate synthase
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NAV3 neuron navigator 3
NCOA2 nuclear receptor coactivator 2
NDUFB8 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa
NF1 neurofibromin 1
NKAIN2 Na+/K+ transporting ATPase interacting 2
NOTCH1 notch 1
NQO1 NAD(P)H dehydrogenase, quinone 1
NSD1 nuclear receptor binding SET domain protein 1
NUP98 nucleoporin 98kDa
OPA1 optic atrophy 1 (autosomal dominant)
OTX2 orthodenticle homeobox 2
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PAX6 paired box 6
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PITX2 paired-like homeodomain 2
PLAGL1 pleiomorphic adenoma gene-like 1
PLAUR plasminogen activator, urokinase receptor
PLSCR1 phospholipid scramblase 1
PNPLA3 patatin-like phospholipase domain containing 3
POU3F4 POU class 3 homeobox 4
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTK7 protein tyrosine kinase 7 (inactive)
RAD9A RAD9 homolog A (S. pombe)
RB1 retinoblastoma 1
REL v-rel avian reticuloendotheliosis viral oncogene homolog
RRM1 ribonucleotide reductase M1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
RUNX3 runt-related transcription factor 3
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SETBP1 SET binding protein 1
SETD2 SET domain containing 2
SF3B1 splicing factor 3b, subunit 1, 155kDa
SFTPA1 surfactant protein A1
SLITRK1 SLIT and NTRK-like family, member 1
SMAD4 SMAD family member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMC1A structural maintenance of chromosomes 1A
SOD3 superoxide dismutase 3, extracellular
SOSTDC1 sclerostin domain containing 1
SPAST spastin
SRSF2 serine/arginine-rich splicing factor 2
STAT1 signal transducer and activator of transcription 1, 91kDa
STXBP1 syntaxin binding protein 1
T T, brachyury homolog (mouse)
TERT telomerase reverse transcriptase
THADA thyroid adenoma associated
TOP2A topoisomerase (DNA) II alpha 170kDa
TOR1A torsin family 1, member A (torsin A)
TP53 tumor protein p53
TTK TTK protein kinase
UBE2C ubiquitin-conjugating enzyme E2C
VEGFA vascular endothelial growth factor A
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WNK2 WNK lysine deficient protein kinase 2
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
WWP1 WW domain containing E3 ubiquitin protein ligase 1
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3
ZNF331 zinc finger protein 331