polymorphic Gene Set

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

427 genes co-occuring with the biological term polymorphic 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
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACE angiotensin I converting enzyme
ACP1 acid phosphatase 1, soluble
ADA adenosine deaminase
ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide
ADRB1 adrenoceptor beta 1
ADRB2 adrenoceptor beta 2, surface
ADRB3 adrenoceptor beta 3
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
AGXT alanine-glyoxylate aminotransferase
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
ANKK1 ankyrin repeat and kinase domain containing 1
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOE apolipoprotein E
APOL1 apolipoprotein L, 1
APP amyloid beta (A4) precursor protein
AQP4 aquaporin 4
AR androgen receptor
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATM ATM serine/threonine kinase
ATP1B1 ATPase, Na+/K+ transporting, beta 1 polypeptide
ATXN3 ataxin 3
AURKA aurora kinase A
AVPR1A arginine vasopressin receptor 1A
B3GAT1 beta-1,3-glucuronyltransferase 1
BAK1 BCL2-antagonist/killer 1
BDNF brain-derived neurotrophic factor
BGLAP bone gamma-carboxyglutamate (gla) protein
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
C2ORF71 chromosome 2 open reading frame 71
C3 complement component 3
CA9 carbonic anhydrase IX
CALCR calcitonin receptor
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASQ2 calsequestrin 2 (cardiac muscle)
CAT catalase
CAV1 caveolin 1, caveolae protein, 22kDa
CCL2 chemokine (C-C motif) ligand 2
CCL5 chemokine (C-C motif) ligand 5
CCND1 cyclin D1
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD14 CD14 molecule
CD177 CD177 molecule
CD1E CD1e molecule
CD207 CD207 molecule, langerin
CD209 CD209 molecule
CD4 CD4 molecule
CD47 CD47 molecule
CD5 CD5 molecule
CDKL5 cyclin-dependent kinase-like 5
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CEL carboxyl ester lipase
CETP cholesteryl ester transfer protein, plasma
CFI complement factor I
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHAT choline O-acetyltransferase
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CLCN1 chloride channel, voltage-sensitive 1
CLEC4M C-type lectin domain family 4, member M
CLOCK clock circadian regulator
CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family)
CNR1 cannabinoid receptor 1 (brain)
CNR2 cannabinoid receptor 2 (macrophage)
COL17A1 collagen, type XVII, alpha 1
COL1A1 collagen, type I, alpha 1
COMT catechol-O-methyltransferase
CRP C-reactive protein, pentraxin-related
CRYBA1 crystallin, beta A1
CRYGD crystallin, gamma D
CTCFL CCCTC-binding factor (zinc finger protein)-like
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNND2 catenin (cadherin-associated protein), delta 2
CXCL8 chemokine (C-X-C motif) ligand 8
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
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
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP2B7P cytochrome P450, family 2, subfamily B, polypeptide 7, pseudogene
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
CYP3A7 cytochrome P450, family 3, subfamily A, polypeptide 7
CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1
DAZ1 deleted in azoospermia 1
DAZ2 deleted in azoospermia 2
DAZ3 deleted in azoospermia 3
DAZ4 deleted in azoospermia 4
DEFB1 defensin, beta 1
DFFB DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)
DHFR dihydrofolate reductase
DISC1 disrupted in schizophrenia 1
DLX5 distal-less homeobox 5
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNASE1 deoxyribonuclease I
DOK7 docking protein 7
DRD2 dopamine receptor D2
DRD3 dopamine receptor D3
DRD4 dopamine receptor D4
DRD5 dopamine receptor D5
DTNBP1 dystrobrevin binding protein 1
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
ECE1 endothelin converting enzyme 1
EDN1 endothelin 1
EGF epidermal growth factor
EGFR epidermal growth factor receptor
ENDOG endonuclease G
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERBB2 erb-b2 receptor tyrosine kinase 2
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERVW-1 endogenous retrovirus group W, member 1
ESD esterase D
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
EXT1 exostosin glycosyltransferase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F12 coagulation factor XII (Hageman factor)
F13A1 coagulation factor XIII, A1 polypeptide
F2 coagulation factor II (thrombin)
F2R coagulation factor II (thrombin) receptor
F5 coagulation factor V (proaccelerin, labile factor)
F9 coagulation factor IX
FADS2 fatty acid desaturase 2
FANCG Fanconi anemia, complementation group G
FBN1 fibrillin 1
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FEN1 flap structure-specific endonuclease 1
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGF9 fibroblast growth factor 9
FGFR4 fibroblast growth factor receptor 4
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FOXA2 forkhead box A2
FOXP3 forkhead box P3
FTO fat mass and obesity associated
FUS FUS RNA binding protein
FXN frataxin
G6PD glucose-6-phosphate dehydrogenase
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GALC galactosylceramidase
GC group-specific component (vitamin D binding protein)
GCK glucokinase (hexokinase 4)
GCKR glucokinase (hexokinase 4) regulator
GH1 growth hormone 1
GLO1 glyoxalase I
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GP6 glycoprotein VI (platelet)
GSTA1 glutathione S-transferase alpha 1
GSTM1 glutathione S-transferase mu 1
GSTO1 glutathione S-transferase omega 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
H19 H19, imprinted maternally expressed transcript (non-protein coding)
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HAVCR2 hepatitis A virus cellular receptor 2
HBB hemoglobin, beta
HFE hemochromatosis
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-DMA major histocompatibility complex, class II, DM alpha
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-E major histocompatibility complex, class I, E
HLA-G major histocompatibility complex, class I, G
HMGA2 high mobility group AT-hook 2
HMOX1 heme oxygenase 1
HOXD13 homeobox D13
HP haptoglobin
HPSE heparanase
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSPA1L heat shock 70kDa protein 1-like
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
ICAM1 intercellular adhesion molecule 1
IDS iduronate 2-sulfatase
IFNA1 interferon, alpha 1
IFNG interferon, gamma
IFNGR1 interferon gamma receptor 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGF2R insulin-like growth factor 2 receptor
IGFBP1 insulin-like growth factor binding protein 1
IGFBP3 insulin-like growth factor binding protein 3
IGLC1 immunoglobulin lambda constant 1 (Mcg marker)
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL13 interleukin 13
IL13RA2 interleukin 13 receptor, alpha 2
IL18 interleukin 18
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL4 interleukin 4
IL6 interleukin 6
IL7R interleukin 7 receptor
IMPA2 inositol(myo)-1(or 4)-monophosphatase 2
INS insulin
IRF1 interferon regulatory factor 1
IRF3 interferon regulatory factor 3
IRGM immunity-related GTPase family, M
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNN3 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3
KDR kinase insert domain receptor
KIF1B kinesin family member 1B
KIF6 kinesin family member 6
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KLRK1 killer cell lectin-like receptor subfamily K, member 1
KRTAP1-4 keratin associated protein 1-4
KRTAP1-5 keratin associated protein 1-5
LEF1 lymphoid enhancer-binding factor 1
LGALS1 lectin, galactoside-binding, soluble, 1
LIF leukemia inhibitory factor
LIPC lipase, hepatic
LMAN1 lectin, mannose-binding, 1
LPL lipoprotein lipase
LRP5 low density lipoprotein receptor-related protein 5
LTA lymphotoxin alpha
LTBR lymphotoxin beta receptor (TNFR superfamily, member 3)
LTK leukocyte receptor tyrosine kinase
MANBA mannosidase, beta A, lysosomal
MAPT microtubule-associated protein tau
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBL2 mannose-binding lectin (protein C) 2, soluble
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MGMT O-6-methylguanine-DNA methyltransferase
MICA MHC class I polypeptide-related sequence A
MIR135B microRNA 135b
MIR146A microRNA 146a
MIR196A2 microRNA 196a-2
MIR491 microRNA 491
MIR759 microRNA 759
MKI67 marker of proliferation Ki-67
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMP1 matrix metallopeptidase 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP7 matrix metallopeptidase 7
MMP9 matrix metallopeptidase 9
MPZ myelin protein zero
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUC1 mucin 1, cell surface associated
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NCOA3 nuclear receptor coactivator 3
NEWENTRY Record to support submission of GeneRIFs for a gene not in Gene (human; man).
NOD2 nucleotide-binding oligomerization domain containing 2
NOG noggin
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NQO1 NAD(P)H dehydrogenase, quinone 1
NQO2 NAD(P)H dehydrogenase, quinone 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR4A2 nuclear receptor subfamily 4, group A, member 2
NRG1 neuregulin 1
NUP153 nucleoporin 153kDa
OGG1 8-oxoguanine DNA glycosylase
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPRM1 opioid receptor, mu 1
OTC ornithine carbamoyltransferase
OXTR oxytocin receptor
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
P2RY1 purinergic receptor P2Y, G-protein coupled, 1
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PAH phenylalanine hydroxylase
PANK2 pantothenate kinase 2
PCDHA1 protocadherin alpha 1
PECAM1 platelet/endothelial cell adhesion molecule 1
PER1 period circadian clock 1
PEX6 peroxisomal biogenesis factor 6
PGM1 phosphoglucomutase 1
PGM3 phosphoglucomutase 3
PGR progesterone receptor
PHF11 PHD finger protein 11
PHOX2B paired-like homeobox 2b
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1
PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
PLAT plasminogen activator, tissue
PLG plasminogen
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNPLA3 patatin-like phospholipase domain containing 3
POLG polymerase (DNA directed), gamma
PON1 paraoxonase 1
POU5F1 POU class 5 homeobox 1
PPARA peroxisome proliferator-activated receptor alpha
PPARD peroxisome proliferator-activated receptor delta
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP1R1B protein phosphatase 1, regulatory (inhibitor) subunit 1B
PRNP prion protein
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PRSS3 protease, serine, 3
PSMB9 proteasome (prosome, macropain) subunit, beta type, 9
PTPN2 protein tyrosine phosphatase, non-receptor type 2
RAD51 RAD51 recombinase
RAET1L retinoic acid early transcript 1L
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RELN reelin
REST RE1-silencing transcription factor
RET ret proto-oncogene
RGS2 regulator of G-protein signaling 2
RHD Rh blood group, D antigen
RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)
RNR1 RNA, ribosomal cluster 1
RP1L1 retinitis pigmentosa 1-like 1
RXRA retinoid X receptor, alpha
RYR1 ryanodine receptor 1 (skeletal)
RYR2 ryanodine receptor 2 (cardiac)
SART1 squamous cell carcinoma antigen recognized by T cells
SAT1 spermidine/spermine N1-acetyltransferase 1
SCN3A sodium channel, voltage gated, type III alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SEP15 15 kDa selenoprotein
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SEZ6L seizure related 6 homolog (mouse)-like
SFTPD surfactant protein D
SHMT1 serine hydroxymethyltransferase 1 (soluble)
SHOX short stature homeobox
SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1
SLC28A3 solute carrier family 28 (concentrative nucleoside transporter), member 3
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SMAD7 SMAD family member 7
SNAP25 synaptosomal-associated protein, 25kDa
SOCS1 suppressor of cytokine signaling 1
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SOD3 superoxide dismutase 3, extracellular
SOX3 SRY (sex determining region Y)-box 3
SPRY2 sprouty homolog 2 (Drosophila)
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STH saitohin
SYK spleen tyrosine kinase
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TAS2R16 taste receptor, type 2, member 16
TAS2R3 taste receptor, type 2, member 3
TAS2R38 taste receptor, type 2, member 38
TERT telomerase reverse transcriptase
TF transferrin
TFAM transcription factor A, mitochondrial
TFG TRK-fused gene
TGFB1 transforming growth factor, beta 1
TGFBI transforming growth factor, beta-induced, 68kDa
TGFBR1 transforming growth factor, beta receptor 1
TH tyrosine hydroxylase
TK1 thymidine kinase 1, soluble
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFSF14 tumor necrosis factor (ligand) superfamily, member 14
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast)
TP53 tumor protein p53
TP53BP1 tumor protein p53 binding protein 1
TPH1 tryptophan hydroxylase 1
TPH2 tryptophan hydroxylase 2
TPO thyroid peroxidase
TRDN triadin
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSPY1 testis specific protein, Y-linked 1
TTR transthyretin
TYMS thymidylate synthetase
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UCP1 uncoupling protein 1 (mitochondrial, proton carrier)
UGT1A UDP glucuronosyltransferase 1 family, polypeptide A complex locus
UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4
UGT2B15 UDP glucuronosyltransferase 2 family, polypeptide B15
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VKORC1 vitamin K epoxide reductase complex, subunit 1
VWF von Willebrand factor
WRN Werner syndrome, RecQ helicase-like
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
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)
YY1 YY1 transcription factor