syndromes Gene Set

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

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

Symbol Name
ABAT 4-aminobutyrate aminotransferase
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11
ACHE acetylcholinesterase (Yt blood group)
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADGRG1 adhesion G protein-coupled receptor G1
ADIPOQ adiponectin, C1Q and collagen domain containing
AGGF1 angiogenic factor with G patch and FHA domains 1
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT1S1 AKT1 substrate 1 (proline-rich)
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALOX5 arachidonate 5-lipoxygenase
ANG angiogenin, ribonuclease, RNase A family, 5
ANGPT1 angiopoietin 1
ANTXR1 anthrax toxin receptor 1
APOA1 apolipoprotein A-I
APOA5 apolipoprotein A-V
APOB apolipoprotein B
APOC3 apolipoprotein C-III
APP amyloid beta (A4) precursor protein
AR androgen receptor
ASXL1 additional sex combs like transcriptional regulator 1
ATM ATM serine/threonine kinase
ATOH1 atonal homolog 1 (Drosophila)
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
BCL2 B-cell CLL/lymphoma 2
BCL2L10 BCL2-like 10 (apoptosis facilitator)
BCOR BCL6 corepressor
BCORL1 BCL6 corepressor-like 1
BLM Bloom syndrome, RecQ helicase-like
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C9ORF72 chromosome 9 open reading frame 72
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CASP3 caspase 3, apoptosis-related cysteine peptidase
CC2D2A coiled-coil and C2 domain containing 2A
CCL2 chemokine (C-C motif) ligand 2
CCND1 cyclin D1
CD14 CD14 molecule
CD247 CD247 molecule
CD274 CD274 molecule
CD33 CD33 molecule
CD34 CD34 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD44 CD44 molecule (Indian blood group)
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDR2 cerebellar degeneration-related protein 2, 62kDa
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CETP cholesteryl ester transfer protein, plasma
CFAP36 cilia and flagella associated protein 36
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CKM creatine kinase, muscle
CLCNKB chloride channel, voltage-sensitive Kb
CLN3 ceroid-lipofuscinosis, neuronal 3
CLRN1 clarin 1
COL11A1 collagen, type XI, alpha 1
COL4A1 collagen, type IV, alpha 1
CREB1 cAMP responsive element binding protein 1
CRP C-reactive protein, pentraxin-related
CSF3R colony stimulating factor 3 receptor (granulocyte)
CST3 cystatin C
CUL7 cullin 7
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL12 chemokine (C-X-C motif) ligand 12
CXCL16 chemokine (C-X-C motif) ligand 16
CXCR4 chemokine (C-X-C motif) receptor 4
CXXC5 CXXC finger protein 5
CYBB cytochrome b-245, beta polypeptide
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
DIDO1 death inducer-obliterator 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DOCK8 dedicator of cytokinesis 8
DOK7 docking protein 7
DYNC1I1 dynein, cytoplasmic 1, intermediate chain 1
E2F1 E2F transcription factor 1
ECEL1 endothelin converting enzyme-like 1
EFHC1 EF-hand domain (C-terminal) containing 1
EGR1 early growth response 1
ELAVL4 ELAV like neuron-specific RNA binding protein 4
EOMES eomesodermin
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1
ETV6 ets variant 6
EVC2 Ellis van Creveld syndrome 2
EYA1 EYA transcriptional coactivator and phosphatase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F12 coagulation factor XII (Hageman factor)
F3 coagulation factor III (thromboplastin, tissue factor)
FAS Fas cell surface death receptor
FBLN1 fibulin 1
FBN1 fibrillin 1
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FGF23 fibroblast growth factor 23
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FHL1 four and a half LIM domains 1
FLT3 fms-related tyrosine kinase 3
FMR1 fragile X mental retardation 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXP2 forkhead box P2
FREM1 FRAS1 related extracellular matrix 1
FTMT ferritin mitochondrial
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GDF15 growth differentiation factor 15
GLI3 GLI family zinc finger 3
GMPPB GDP-mannose pyrophosphorylase B
GNAS GNAS complex locus
GRN granulin
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
H2AFX H2A histone family, member X
H3F3A H3 histone, family 3A
HABP2 hyaluronan binding protein 2
HAMP hepcidin antimicrobial peptide
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBG2 hemoglobin, gamma G
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-DRB4 major histocompatibility complex, class II, DR beta 4
HMGB1 high mobility group box 1
HMOX1 heme oxygenase 1
HOMER1 homer scaffolding protein 1
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA1B heat shock 70kDa protein 1B
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IER3IP1 immediate early response 3 interacting protein 1
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGFBP3 insulin-like growth factor binding protein 3
IL10 interleukin 10
IL12A interleukin 12A
IL17A interleukin 17A
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL27RA interleukin 27 receptor, alpha
IL6 interleukin 6
IL7 interleukin 7
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
IRAK4 interleukin-1 receptor-associated kinase 4
IRF1 interferon regulatory factor 1
IRF6 interferon regulatory factor 6
IRS1 insulin receptor substrate 1
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK2 Janus kinase 2
JAK3 Janus kinase 3
JAM3 junctional adhesion molecule 3
JARID2 jumonji, AT rich interactive domain 2
JPH3 junctophilin 3
KAT7 K(lysine) acetyltransferase 7
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KDM1A lysine (K)-specific demethylase 1A
KDM6A lysine (K)-specific demethylase 6A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
LEP leptin
LEPR leptin receptor
LGALS3 lectin, galactoside-binding, soluble, 3
LIG1 ligase I, DNA, ATP-dependent
LMNA lamin A/C
LYN LYN proto-oncogene, Src family tyrosine kinase
MAOA monoamine oxidase A
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MAPT microtubule-associated protein tau
MB myoglobin
MCM2 minichromosome maintenance complex component 2
MGMT O-6-methylguanine-DNA methyltransferase
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MIR155 microRNA 155
MIR17 microRNA 17
MIR20A microRNA 20a
MIR21 microRNA 21
MIR210 microRNA 210
MIR221 microRNA 221
MIR222 microRNA 222
MIR34B microRNA 34b
MIRLET7A1 microRNA let-7a-1
MITF microphthalmia-associated transcription factor
MMP9 matrix metallopeptidase 9
MNDA myeloid cell nuclear differentiation antigen
MPO myeloperoxidase
MSH2 mutS homolog 2
MSH3 mutS homolog 3
MSI2 musashi RNA-binding protein 2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTNR1A melatonin receptor 1A
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUSK muscle, skeletal, receptor tyrosine kinase
MYD88 myeloid differentiation primary response 88
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH9 myosin, heavy chain 9, non-muscle
MYO7A myosin VIIA
NBN nibrin
NCOA2 nuclear receptor coactivator 2
NF1 neurofibromin 1
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NGF nerve growth factor (beta polypeptide)
NGFR nerve growth factor receptor
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2
NLRP12 NLR family, pyrin domain containing 12
NLRP3 NLR family, pyrin domain containing 3
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOX4 NADPH oxidase 4
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NPPA natriuretic peptide A
NPPB natriuretic peptide B
NPPC natriuretic peptide C
NR3C2 nuclear receptor subfamily 3, group C, member 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NUMB numb homolog (Drosophila)
NUP98 nucleoporin 98kDa
OFD1 oral-facial-digital syndrome 1
OLR1 oxidized low density lipoprotein (lectin-like) receptor 1
OPA1 optic atrophy 1 (autosomal dominant)
ORAI1 ORAI calcium release-activated calcium modulator 1
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAPPA pregnancy-associated plasma protein A, pappalysin 1
PARK7 parkinson protein 7
PAX2 paired box 2
PDCD1 programmed cell death 1
PDCD1LG2 programmed cell death 1 ligand 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLK2 polo-like kinase 2
POLG polymerase (DNA directed), gamma
POR P450 (cytochrome) oxidoreductase
PPA2 pyrophosphatase (inorganic) 2
PPARA peroxisome proliferator-activated receptor alpha
PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)
PROZ protein Z, vitamin K-dependent plasma glycoprotein
PRSS21 protease, serine, 21 (testisin)
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTK2 protein tyrosine kinase 2
PTPN1 protein tyrosine phosphatase, non-receptor type 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB27A RAB27A, member RAS oncogene family
RAD52 RAD52 homolog (S. cerevisiae)
RAG2 recombination activating gene 2
RAPSN receptor-associated protein of the synapse
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RETN resistin
RING1 ring finger protein 1
RMI1 RecQ mediated genome instability 1
RUNX1 runt-related transcription factor 1
S100A9 S100 calcium binding protein A9
SALL4 spalt-like transcription factor 4
SBDS Shwachman-Bodian-Diamond syndrome
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SDHAF2 succinate dehydrogenase complex assembly factor 2
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2
SETBP1 SET binding protein 1
SF3B1 splicing factor 3b, subunit 1, 155kDa
SIRT1 sirtuin 1
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC12A8 solute carrier family 12, member 8
SLC12A9 solute carrier family 12, member 9
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SMAD4 SMAD family member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SNRNP70 small nuclear ribonucleoprotein 70kDa (U1)
SOS1 son of sevenless homolog 1 (Drosophila)
SOX1 SRY (sex determining region Y)-box 1
SOX10 SRY (sex determining region Y)-box 10
SRSF2 serine/arginine-rich splicing factor 2
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STIM1 stromal interaction molecule 1
STK11 serine/threonine kinase 11
STX1B syntaxin 1B
SURF1 surfeit 1
TBX1 T-box 1
TCF4 transcription factor 4
TCOF1 Treacher Collins-Franceschetti syndrome 1
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TGFB1 transforming growth factor, beta 1
THBD thrombomodulin
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLR4 toll-like receptor 4
TLR9 toll-like receptor 9
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF9 tumor necrosis factor receptor superfamily, member 9
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TNNI1 troponin I type 1 (skeletal, slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TOP1 topoisomerase (DNA) I
TOP3A topoisomerase (DNA) III alpha
TP53 tumor protein p53
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC2 tuberous sclerosis 2
TUBB3 tubulin, beta 3 class III
TUBGCP5 tubulin, gamma complex associated protein 5
TWIST1 twist family bHLH transcription factor 1
TWSG1 twisted gastrulation BMP signaling modulator 1
TYK2 tyrosine kinase 2
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VTN vitronectin
VWF von Willebrand factor
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WDR45 WD repeat domain 45
WT1 Wilms tumor 1