abnormality Gene Set

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

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

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ACE angiotensin I converting enzyme
ACLY ATP citrate lyase
ALK anaplastic lymphoma receptor tyrosine kinase
APITD1 apoptosis-inducing, TAF9-like domain 1
APOB apolipoprotein B
APOC1 apolipoprotein C-I
APP amyloid beta (A4) precursor protein
AR androgen receptor
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATF3 activating transcription factor 3
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
AURKA aurora kinase A
BDNF brain-derived neurotrophic factor
BPY2 basic charge, Y-linked, 2
CASP3 caspase 3, apoptosis-related cysteine peptidase
CBS cystathionine-beta-synthase
CCND1 cyclin D1
CD19 CD19 molecule
CD200R1 CD200 receptor 1
CD44 CD44 molecule (Indian blood group)
CD46 CD46 molecule, complement regulatory protein
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CFH complement factor H
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHGA chromogranin A
COL4A5 collagen, type IV, alpha 5
COL6A1 collagen, type VI, alpha 1
COMT catechol-O-methyltransferase
CREBBP CREB binding protein
CTAG1B cancer/testis antigen 1B
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
DAZ1 deleted in azoospermia 1
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DRD2 dopamine receptor D2
ECT2 epithelial cell transforming 2
EDN1 endothelin 1
EGFR epidermal growth factor receptor
ENG endoglin
EPB41 erythrocyte membrane protein band 4.1
ERBB4 erb-b2 receptor tyrosine kinase 4
ERCC2 excision repair cross-complementation group 2
ESR1 estrogen receptor 1
ETV6 ets variant 6
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
EZR ezrin
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FGF23 fibroblast growth factor 23
FGFR3 fibroblast growth factor receptor 3
FHIT fragile histidine triad
FKBP5 FK506 binding protein 5
FLG filaggrin
FLT3 fms-related tyrosine kinase 3
FMR1 fragile X mental retardation 1
FOXN1 forkhead box N1
GCH1 GTP cyclohydrolase 1
GFAP glial fibrillary acidic protein
GH1 growth hormone 1
GNAS GNAS complex locus
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HAX1 HCLS1 associated protein X-1
HBA2 hemoglobin, alpha 2
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HPRT1 hypoxanthine phosphoribosyltransferase 1
HPSE heparanase
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
HTT huntingtin
IGH immunoglobulin heavy locus
IL10 interleukin 10
INHA inhibin, alpha
INS insulin
IRF4 interferon regulatory factor 4
IRS1 insulin receptor substrate 1
JAG1 jagged 1
JAK1 Janus kinase 1
JAK2 Janus kinase 2
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLK1 kallikrein 1
KMT2A lysine (K)-specific methyltransferase 2A
LCK LCK proto-oncogene, Src family tyrosine kinase
LHB luteinizing hormone beta polypeptide
LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4
LOR loricrin
MAOA monoamine oxidase A
MAPK1 mitogen-activated protein kinase 1
MAPT microtubule-associated protein tau
MET MET proto-oncogene, receptor tyrosine kinase
MGMT O-6-methylguanine-DNA methyltransferase
MLF1 myeloid leukemia factor 1
MMP3 matrix metallopeptidase 3
MMS19 MMS19 nucleotide excision repair homolog (S. cerevisiae)
MSN moesin
MUSK muscle, skeletal, receptor tyrosine kinase
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH9 myosin, heavy chain 9, non-muscle
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH1 notch 1
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NUP98 nucleoporin 98kDa
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PARK2 parkin RBR E3 ubiquitin protein ligase
PAX2 paired box 2
PAX6 paired box 6
PDCD4 programmed cell death 4 (neoplastic transformation inhibitor)
PHF6 PHD finger protein 6
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PLG plasminogen
PLP1 proteolipid protein 1
PLSCR1 phospholipid scramblase 1
POLG polymerase (DNA directed), gamma
PPARD peroxisome proliferator-activated receptor delta
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRNP prion protein
PRPH2 peripherin 2 (retinal degeneration, slow)
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRSS1 protease, serine, 1 (trypsin 1)
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PVT1 Pvt1 oncogene (non-protein coding)
RANBP1 RAN binding protein 1
RARB retinoic acid receptor, beta
RDX radixin
RETN resistin
RTN4R reticulon 4 receptor
RUNX1 runt-related transcription factor 1
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SHH sonic hedgehog
SHOX short stature homeobox
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOD1 superoxide dismutase 1, soluble
SRA1 steroid receptor RNA activator 1
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
STGC3 uncharacterized STGC3
STOM stomatin
TAC1 tachykinin, precursor 1
TBX1 T-box 1
TFE3 transcription factor binding to IGHM enhancer 3
TLR9 toll-like receptor 9
TNF tumor necrosis factor
TP53 tumor protein p53
TSC1 tuberous sclerosis 1
TSHR thyroid stimulating hormone receptor
TUBB2B tubulin, beta 2B class IIb
USP9Y ubiquitin specific peptidase 9, Y-linked
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VWF von Willebrand factor
WT1 Wilms tumor 1