Endometriosis Gene Set

Dataset DISEASES Experimental Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. (Experimental Factor Ontology, EFO_0001065)
Similar Terms
Downloads & Tools

Genes

273 genes associated with the disease Endometriosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
WNT4 wingless-type MMTV integration site family, member 4 2.043
CDC42 cell division cycle 42 2.043
GREB1 growth regulation by estrogen in breast cancer 1 2.01
FSHB follicle stimulating hormone, beta polypeptide 1.999
AAGAB alpha- and gamma-adaptin binding protein 1.993
SMAD3 SMAD family member 3 1.993
CELA3A chymotrypsin-like elastase family, member 3A 1.988
IQCH IQ motif containing H 1.987
LPIN1 lipin 1 1.985
NTSR2 neurotensin receptor 2 1.985
HNF1B HNF1 homeobox B 1.98
CELA3B chymotrypsin-like elastase family, member 3B 1.98
DDX52 DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 1.98
DMRTA1 DMRT-like family A1 1.979
SYNE1 spectrin repeat containing, nuclear envelope 1 1.968
ESR1 estrogen receptor 1 1.968
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein 1.962
MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 1.961
CCDC170 coiled-coil domain containing 170 1.951
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae) 1.951
ARMT1 acidic residue methyltransferase 1 1.951
SKIDA1 SKI/DACH domain containing 1 1.944
KDR kinase insert domain receptor 1.884
MPPED2 metallophosphoesterase domain containing 2 1.876
ARL14EP ADP-ribosylation factor-like 14 effector protein 1.876
HDDC2 HD domain containing 2 1.846
HEY2 hes-related family bHLH transcription factor with YRPW motif 2 1.846
NCOA7 nuclear receptor coactivator 7 1.846
GLDN gliomedin 1.822
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 1.822
VEZT vezatin, adherens junctions transmembrane protein 1.807
MST1 macrophage stimulating 1 1.786
RNF123 ring finger protein 123 1.786
APEH acylaminoacyl-peptide hydrolase 1.786
BSN bassoon presynaptic cytomatrix protein 1.786
FGD6 FYVE, RhoGEF and PH domain containing 6 1.693
NCR3 natural cytotoxicity triggering receptor 3 1.627
TNF tumor necrosis factor 1.627
MICB MHC class I polypeptide-related sequence B 1.627
LTB lymphotoxin beta (TNF superfamily, member 3) 1.627
ATP6V1G2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2 1.627
LTA lymphotoxin alpha 1.627
DDX39B DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 1.627
NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 1.627
LST1 leukocyte specific transcript 1 1.627
MCCD1 mitochondrial coiled-coil domain 1 1.627
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) 1.622
DENND1B DENN/MADD domain containing 1B 1.585
E2F6 E2F transcription factor 6 1.579
C3ORF62 chromosome 3 open reading frame 62 1.545
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) 1.532
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 1.53
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B 1.481
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 1.481
BMF Bcl2 modifying factor 1.481
SRP14 signal recognition particle 14kDa (homologous Alu RNA binding protein) 1.481
PTPRO protein tyrosine phosphatase, receptor type, O 1.466
RERG RAS-like, estrogen-regulated, growth inhibitor 1.466
MFHAS1 malignant fibrous histiocytoma amplified sequence 1 1.446
CLDN23 claudin 23 1.446
CDKN2A cyclin-dependent kinase inhibitor 2A 1.443
RUNX1 runt-related transcription factor 1 1.421
HOXA1 homeobox A1 1.419
HOXA7 homeobox A7 1.419
HOXA13 homeobox A13 1.419
HOXA5 homeobox A5 1.419
HOXA6 homeobox A6 1.419
HOXA4 homeobox A4 1.419
HOXA10 homeobox A10 1.419
HOXA3 homeobox A3 1.419
HOXA11 homeobox A11 1.419
HOXA9 homeobox A9 1.419
HOXA2 homeobox A2 1.419
EVX1 even-skipped homeobox 1 1.419
GDAP1 ganglioside induced differentiation associated protein 1 1.379
JPH1 junctophilin 1 1.379
MFSD9 major facilitator superfamily domain containing 9 1.345
SLC9A2 solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 1.345
SLC9A4 solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 1.345
TMEM182 transmembrane protein 182 1.345
TYR tyrosinase 1.34
ATXN2 ataxin 2 1.34
SH2B3 SH2B adaptor protein 3 1.34
PHETA1 PH domain containing endocytic trafficking adaptor 1 1.34
CUX2 cut-like homeobox 2 1.34
GRM5 glutamate receptor, metabotropic 5 1.34
USP19 ubiquitin specific peptidase 19 1.336
QRICH1 glutamine-rich 1 1.336
KLHDC8B kelch domain containing 8B 1.336
CCDC71 coiled-coil domain containing 71 1.336
QARS1 glutaminyl-tRNA synthetase 1 1.336
LAMB2 laminin, beta 2 (laminin S) 1.336
AMIGO3 adhesion molecule with Ig-like domain 3 1.291
UBA7 ubiquitin-like modifier activating enzyme 7 1.291
GMPPB GDP-mannose pyrophosphorylase B 1.291
IP6K1 inositol hexakisphosphate kinase 1 1.291
CAMKV CaM kinase-like vesicle-associated 1.291
INKA1 inka box actin regulator 1 1.291
TRAIP TRAF interacting protein 1.291
CDHR4 cadherin-related family member 4 1.291
DNM3 dynamin 3 1.273
COP1 COP1 E3 ubiquitin ligase 1.268
IGF1R insulin-like growth factor 1 receptor 1.231
PGPEP1L pyroglutamyl-peptidase I-like 1.231
RARB retinoic acid receptor, beta 1.229
CEP112 centrosomal protein 112kDa 1.225
AXIN2 axin 2 1.225
XKR6 XK, Kell blood group complex subunit-related family, member 6 1.202
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 1.198
RHOA ras homolog family member A 1.198
KCTD9 potassium channel tetramerization domain containing 9 1.198
DOCK5 dedicator of cytokinesis 5 1.198
CDCA2 cell division cycle associated 2 1.198
USP4 ubiquitin specific peptidase 4 (proto-oncogene) 1.18
BHLHE41 basic helix-loop-helix family, member e41 1.172
SSPN sarcospan 1.172
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 1.172
NUP42 nucleoporin 42 1.142
MALSU1 mitochondrial assembly of ribosomal large subunit 1 1.142
GPNMB glycoprotein (transmembrane) nmb 1.142
IGF2BP3 insulin-like growth factor 2 mRNA binding protein 3 1.142
KLHL7 kelch-like family member 7 1.142
NOX4 NADPH oxidase 4 1.128
SNX11 sorting nexin 11 1.127
SKAP1 src kinase associated phosphoprotein 1 1.127
KCNA4 potassium channel, voltage gated shaker related subfamily A, member 4 1.111
NEGR1 neuronal growth regulator 1 1.092
CXXC4 CXXC finger protein 4 1.092
ASXL1 additional sex combs like transcriptional regulator 1 1.071
NOL4L nucleolar protein 4-like 1.071
HOXC12 homeobox C12 1.056
HOXC9 homeobox C9 1.056
HOXC6 homeobox C6 1.056
HOXC11 homeobox C11 1.056
HOXC13 homeobox C13 1.056
HOXC8 homeobox C8 1.056
HOXC5 homeobox C5 1.056
HOXC4 homeobox C4 1.056
HOXC10 homeobox C10 1.056
RABGAP1L RAB GTPase activating protein 1-like 1.055
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 1.042
FN1 fibronectin 1 1.042
OR10Q1 olfactory receptor, family 10, subfamily Q, member 1 1.03
OR1S1 olfactory receptor, family 1, subfamily S, member 1 (gene/pseudogene) 1.03
OR1S2 olfactory receptor, family 1, subfamily S, member 2 1.03
OR9I1 olfactory receptor, family 9, subfamily I, member 1 1.03
OR9Q2 olfactory receptor, family 9, subfamily Q, member 2 1.03
OR9Q1 olfactory receptor, family 9, subfamily Q, member 1 1.03
WT1 Wilms tumor 1 1.024
EIF3M eukaryotic translation initiation factor 3, subunit M 1.024
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 1.023
BLK BLK proto-oncogene, Src family tyrosine kinase 1.016
C1QL1 complement component 1, q subcomponent-like 1 1.005
KIF18B kinesin family member 18B 1.005
GFAP glial fibrillary acidic protein 1.005
FAM187A family with sequence similarity 187, member A 1.005
GJC1 gap junction protein, gamma 1, 45kDa 1.005
HIGD1B HIG1 hypoxia inducible domain family, member 1B 1.005
NMT1 N-myristoyltransferase 1 1.005
ITGB8 integrin, beta 8 1.005
EFTUD2 elongation factor Tu GTP binding domain containing 2 1.005
ICA1L islet cell autoantigen 1,69kDa-like 0.999
FAM117B family with sequence similarity 117, member B 0.999
AKT1 v-akt murine thymoma viral oncogene homolog 1 0.986
ADSS1 adenylosuccinate synthase 1 0.986
SIVA1 SIVA1, apoptosis-inducing factor 0.986
ZBTB42 zinc finger and BTB domain containing 42 0.986
CEP170B centrosomal protein 170B 0.986
INF2 inverted formin, FH2 and WH2 domain containing 0.986
FBXL5 F-box and leucine-rich repeat protein 5 0.982
C1QTNF7 C1q and tumor necrosis factor related protein 7 0.982
CC2D2A coiled-coil and C2 domain containing 2A 0.982
CHN2 chimerin 2 0.973
CPVL carboxypeptidase, vitellogenic-like 0.973
SAR1B secretion associated, Ras related GTPase 1B 0.97
DLEU7 deleted in lymphocytic leukemia, 7 0.97
VPS13B vacuolar protein sorting 13 homolog B (yeast) 0.97
CBX1 chromobox homolog 1 0.97
IGF1 insulin-like growth factor 1 (somatomedin C) 0.97
JADE2 jade family PHD finger 2 0.97
DNAJC1 DnaJ (Hsp40) homolog, subfamily C, member 1 0.961
SOX4 SRY (sex determining region Y)-box 4 0.96
LIPJ lipase, family member J 0.959
RNLS renalase, FAD-dependent amine oxidase 0.959
ZBTB12 zinc finger and BTB domain containing 12 0.945
DXO decapping exoribonuclease 0.945
HSPA1A heat shock 70kDa protein 1A 0.945
HSPA1B heat shock 70kDa protein 1B 0.945
STK19 serine/threonine kinase 19 0.945
C2 complement component 2 0.945
CFB complement factor B 0.945
EHMT2 euchromatic histone-lysine N-methyltransferase 2 0.945
NELFE negative elongation factor complex member E 0.945
NEU1 sialidase 1 (lysosomal sialidase) 0.945
C4A complement component 4A (Rodgers blood group) 0.945
C4B complement component 4B (Chido blood group) 0.945
SLC44A4 solute carrier family 44, member 4 0.945
AFF3 AF4/FMR2 family, member 3 0.936
REV1 REV1, polymerase (DNA directed) 0.936
MTMR9 myotubularin related protein 9 0.929
FAM167A family with sequence similarity 167, member A 0.929
SLC35G5 solute carrier family 35, member G5 0.929
EVI2A ecotropic viral integration site 2A 0.914
EVI2B ecotropic viral integration site 2B 0.914
OMG oligodendrocyte myelin glycoprotein 0.914
RAB11FIP4 RAB11 family interacting protein 4 (class II) 0.914
NF1 neurofibromin 1 0.914
LPP LIM domain containing preferred translocation partner in lipoma 0.904
HMGB4 high mobility group box 4 0.889
CSMD2 CUB and Sushi multiple domains 2 0.889
ZSCAN20 zinc finger and SCAN domain containing 20 0.889
HNF1A HNF1 homeobox A 0.871
MKRN1 makorin ring finger protein 1 0.871
CEMIP cell migration inducing protein, hyaluronan binding 0.871
DENND2A DENN/MADD domain containing 2A 0.871
OR2Z1 olfactory receptor, family 2, subfamily Z, member 1 0.871
RAB19 RAB19, member RAS oncogene family 0.871
MYO1F myosin IF 0.871
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 0.871
SMYD2 SET and MYND domain containing 2 0.871
C12ORF43 chromosome 12 open reading frame 43 0.871
SLC37A3 solute carrier family 37, member 3 0.871
ABHD17C abhydrolase domain containing 17C 0.871
PTPN14 protein tyrosine phosphatase, non-receptor type 14 0.871
ACTL9 actin-like 9 0.871
OASL 2'-5'-oligoadenylate synthetase-like 0.871
PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1 0.841
FAF1 Fas (TNFRSF6) associated factor 1 0.841
RHOJ ras homolog family member J 0.82
KCNH5 potassium channel, voltage gated eag related subfamily H, member 5 0.82
NGF nerve growth factor (beta polypeptide) 0.794
SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 0.777
CD109 CD109 molecule 0.607
NT5DC4 5'-nucleotidase domain containing 4 0.604
IL1B interleukin 1, beta 0.604
CKAP2L cytoskeleton associated protein 2-like 0.604
IL1A interleukin 1, alpha 0.604
LHX9 LIM homeobox 9 0.601
C1ORF53 chromosome 1 open reading frame 53 0.601
CLIC4 chloride intracellular channel 4 0.59
RUNX3 runt-related transcription factor 3 0.59
TBX3 T-box 3 0.571
PRAG1 PEAK1 related, kinase-activating pseudokinase 1 0.567
ETAA1 Ewing tumor-associated antigen 1 0.564
PTEN phosphatase and tensin homolog 0.559
RSPO1 R-spondin 1 0.556
GNL2 guanine nucleotide binding protein-like 2 (nucleolar) 0.556
SNIP1 Smad nuclear interacting protein 1 0.556
MEAF6 MYST/Esa1-associated factor 6 0.556
DNALI1 dynein, axonemal, light intermediate chain 1 0.556
CDCA8 cell division cycle associated 8 0.556
NR2F2 nuclear receptor subfamily 2, group F, member 2 0.553
C6ORF118 chromosome 6 open reading frame 118 0.545
GATA4 GATA binding protein 4 0.527
ADGRG6 adhesion G protein-coupled receptor G6 0.525
HIVEP2 human immunodeficiency virus type I enhancer binding protein 2 0.525
LRRC32 leucine rich repeat containing 32 0.521
TSKU tsukushi, small leucine rich proteoglycan 0.521
PAPOLG poly(A) polymerase gamma 0.52
TCTA T-cell leukemia translocation altered 0.518
AMT aminomethyltransferase 0.518
NICN1 nicolin 1 0.518
GRIK3 glutamate receptor, ionotropic, kainate 3 0.514
PTMA prothymosin, alpha 0.511
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta 0.511
COPS7B COP9 signalosome subunit 7B 0.511
MRPS14 mitochondrial ribosomal protein S14 0.503
TNN tenascin N 0.503
CACYBP calcyclin binding protein 0.503
CCDC181 coiled-coil domain containing 181 0.501
SLC19A2 solute carrier family 19 (thiamine transporter), member 2 0.501
F5 coagulation factor V (proaccelerin, labile factor) 0.501
SELP selectin P (granule membrane protein 140kDa, antigen CD62) 0.501