Endometriosis Gene Set

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

190 genes associated with the Endometriosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ACP1 acid phosphatase 1, soluble
AGTR1 angiotensin II receptor, type 1
AHR aryl hydrocarbon receptor
AHRR aryl-hydrocarbon receptor repressor
AHSG alpha-2-HS-glycoprotein
AKR1C3 aldo-keto reductase family 1, member C3
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALOX15 arachidonate 15-lipoxygenase
AMH anti-Mullerian hormone
AMHR2 anti-Mullerian hormone receptor, type II
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOE apolipoprotein E
AR androgen receptor
ARID1A AT rich interactive domain 1A (SWI-like)
ARNT aryl hydrocarbon receptor nuclear translocator
BDNF brain-derived neurotrophic factor
BHMT betaine--homocysteine S-methyltransferase
BHMT2 betaine--homocysteine S-methyltransferase 2
BIRC5 baculoviral IAP repeat containing 5
BNC2 basonuclin 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
C10ORF55 chromosome 10 open reading frame 55
C3 complement component 3
C5 complement component 5
CBS cystathionine-beta-synthase
CCL2 chemokine (C-C motif) ligand 2
CCL21 chemokine (C-C motif) ligand 21
CCL5 chemokine (C-C motif) ligand 5
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD19 CD19 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDH5 cadherin 5, type 2 (vascular endothelium)
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2B-AS1 CDKN2B antisense RNA 1
CETP cholesteryl ester transfer protein, plasma
CHDH choline dehydrogenase
CHKA choline kinase alpha
CLOCK clock circadian regulator
COL18A1 collagen, type XVIII, alpha 1
COMT catechol-O-methyltransferase
CPB2 carboxypeptidase B2 (plasma)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, 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
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like
DRD2 dopamine receptor D2
EGFR epidermal growth factor receptor
EMX2 empty spiracles homeobox 2
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC2 excision repair cross-complementation group 2
ERCC5 excision repair cross-complementation group 5
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FCRL3 Fc receptor-like 3
FCRLA Fc receptor-like A
FGF1 fibroblast growth factor 1 (acidic)
FGFR2 fibroblast growth factor receptor 2
FN1 fibronectin 1
FOXP3 forkhead box P3
FSHR follicle stimulating hormone receptor
GALT galactose-1-phosphate uridylyltransferase
GREB1 growth regulation by estrogen in breast cancer 1
GSTA1 glutathione S-transferase alpha 1
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
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-DPB1 major histocompatibility complex, class II, DP beta 1
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
HNRNPA3P1 heterogeneous nuclear ribonucleoprotein A3 pseudogene 1
HOXA10 homeobox A10
HSD17B1 hydroxysteroid (17-beta) dehydrogenase 1
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3
HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6
ICAM1 intercellular adhesion molecule 1
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGFBP1 insulin-like growth factor binding protein 1
IGFBP3 insulin-like growth factor binding protein 3
IL10 interleukin 10
IL16 interleukin 16
IL18 interleukin 18
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1R2 interleukin 1 receptor, type II
IL1RN interleukin 1 receptor antagonist
IL2RB interleukin 2 receptor, beta
IL4 interleukin 4
IL6 interleukin 6
IRF5 interferon regulatory factor 5
IRS2 insulin receptor substrate 2
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KDR kinase insert domain receptor
KIR2DS5 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5
KIR3DS1 killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1
KRAS Kirsten rat sarcoma viral oncogene homolog
LHB luteinizing hormone beta polypeptide
LIF leukemia inhibitory factor
LOC100130539
LOC100506885 uncharacterized LOC100506885
LOXL4 lysyl oxidase-like 4
LTA lymphotoxin alpha
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MDM4 MDM4, p53 regulator
MEGF10 multiple EGF-like-domains 10
MMP1 matrix metallopeptidase 1
MMP12 matrix metallopeptidase 12
MMP13 matrix metallopeptidase 13
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP7 matrix metallopeptidase 7
MMP9 matrix metallopeptidase 9
MPO myeloperoxidase
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
MUC2 mucin 2, oligomeric mucus/gel-forming
MUC4 mucin 4, cell surface associated
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NFE2L3 nuclear factor, erythroid 2-like 3
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NOS3 nitric oxide synthase 3 (endothelial cell)
OGG1 8-oxoguanine DNA glycosylase
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDCD6 programmed cell death 6
PEMT phosphatidylethanolamine N-methyltransferase
PGR progesterone receptor
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PPARG peroxisome proliferator-activated receptor gamma
PTEN phosphatase and tensin homolog
PTGDR prostaglandin D2 receptor (DP)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RBM43 RNA binding motif protein 43
RND3 Rho family GTPase 3
RNF144B ring finger protein 144B
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SOD2 superoxide dismutase 2, mitochondrial
STAT4 signal transducer and activator of transcription 4
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
TACR1 tachykinin receptor 1
TCN1 transcobalamin I (vitamin B12 binding protein, R binder family)
TGFB1 transforming growth factor, beta 1
TGFBR1 transforming growth factor, beta receptor 1
TIMP2 TIMP metallopeptidase inhibitor 2
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a
TNFRSF10B tumor necrosis factor receptor superfamily, member 10b
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TP53 tumor protein p53
TRAF1 TNF receptor-associated factor 1
TRB T cell receptor beta locus
TYK2 tyrosine kinase 2
USP7 ubiquitin specific peptidase 7 (herpes virus-associated)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VEZT vezatin, adherens junctions transmembrane protein
WNT4 wingless-type MMTV integration site family, member 4
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