Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 7040
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol TGFB1   Gene   UCSC   Ensembl
Aliases CED, DPD1, LAP, TGFB, TGFbeta
Gene name transforming growth factor beta 1
Alternate names transforming growth factor beta-1, TGF-beta-1, latency-associated peptide, prepro-transforming growth factor beta-1,
Gene location 19q13.2 (16216745: 16030093)     Exons: 54     NC_000017.11
Gene summary(Entrez) This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]
OMIM 190180

SNPs

rs1800469

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000681.2   g.41354391A>G
NC_000019.10   g.41354391A>G
NC_000019.9   g.41860296A>G
NG_013091.1   g.14783T>C
NG_013364.1   g.4536T>C
NM_000660.6   c.-1347T>C
NM_030578.3   c.*309T>C

Protein Summary

Protein general information P01137  

Name: Transforming growth factor beta 1 (TGF beta 1) [Cleaved into: Latency associated peptide (LAP)]

Length: 390  Mass: 44,341

Tissue specificity: Highly expressed in bone. Abundantly expressed in articular cartilage and chondrocytes and is increased in osteoarthritis (OA). Colocalizes with ASPN in chondrocytes within OA lesions of articular cartilage. {ECO

Sequence MPPSGLRLLLLLLPLLWLLVLTPGRPAAGLSTCKTIDMELVKRKRIEAIRGQILSKLRLASPPSQGEVPPGPLPE
AVLALYNSTRDRVAGESAEPEPEPEADYYAKEVTRVLMVETHNEIYDKFKQSTHSIYMFFNTSELREAVPEPVLL
SRAELRLLRLKLKVEQHVELYQKYSNNSWRYLSNRLLAPSDSPEWLSFDVTGVVRQWLSRGGEIEGFRLSAHCSC
DSRDNTLQVDINGFTTGRRGDLATIHGMNRPFLLLMATPLERAQHLQSSRHRRALDTNYCFSSTEKNCCVRQLYI
DFRKDLGWKWIHEPKGYHANFCLGPCPYIWSLDTQYSKVLALYNQHNPGASAAPCCVPQALEPLPIVYYVGRKPK
VEQLSNMIVRSCKCS
Structural information

Motifs
Cell attachment(244-246)
Interpro:  IPR029034 IPR001839 IPR001111 IPR016319 IPR015615 IPR003939 IPR017948
Prosite:   PS00250 PS51362

Pfam:  
PF00019 PF00688

PDB:  
1KLA 1KLC 1KLD 3KFD 4KV5 5FFO
PDBsum:   1KLA 1KLC 1KLD 3KFD 4KV5 5FFO

DIP:  
5934
MINT:   6806111
STRING:   ENSP00000221930;
Other Databases GeneCards:  TGFB1;  Malacards:  TGFB1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000060 protein import into nucle
us, translocation
IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0000165 MAPK cascade
IMP biological_process
GO:0001657 ureteric bud development
IEA biological_process
GO:0001666 response to hypoxia
IEA biological_process
GO:0001837 epithelial to mesenchymal
transition
IDA biological_process
GO:0001933 negative regulation of pr
otein phosphorylation
IDA biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
IDA biological_process
GO:0001948 glycoprotein binding
IPI molecular_function
GO:0002028 regulation of sodium ion
transport
IEA biological_process
GO:0002062 chondrocyte differentiati
on
IDA biological_process
GO:0002244 hematopoietic progenitor
cell differentiation
IDA biological_process
GO:0002248 connective tissue replace
ment involved in inflamma
tory response wound heali
ng
TAS biological_process
GO:0002460 adaptive immune response
based on somatic recombin
ation of immune receptors
built from immunoglobuli
n superfamily domains
IEA biological_process
GO:0002513 tolerance induction to se
lf antigen
IEA biological_process
GO:0002576 platelet degranulation
TAS biological_process
GO:0003823 antigen binding
IPI molecular_function
GO:0005114 type II transforming grow
th factor beta receptor b
inding
IDA molecular_function
GO:0005114 type II transforming grow
th factor beta receptor b
inding
IPI molecular_function
GO:0005114 type II transforming grow
th factor beta receptor b
inding
IMP molecular_function
GO:0005125 cytokine activity
TAS molecular_function
GO:0005160 transforming growth facto
r beta receptor binding
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
ISS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005796 Golgi lumen
TAS cellular_component
GO:0005796 Golgi lumen
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006468 protein phosphorylation
ISS biological_process
GO:0006611 protein export from nucle
us
IDA biological_process
GO:0006611 protein export from nucle
us
IDA biological_process
GO:0006611 protein export from nucle
us
IDA biological_process
GO:0006754 ATP biosynthetic process
IDA biological_process
GO:0006796 phosphate-containing comp
ound metabolic process
IDA biological_process
GO:0006874 cellular calcium ion home
ostasis
IEA biological_process
GO:0006954 inflammatory response
IDA biological_process
GO:0007050 cell cycle arrest
IDA biological_process
GO:0007093 mitotic cell cycle checkp
oint
IDA biological_process
GO:0007173 epidermal growth factor r
eceptor signaling pathway
IDA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
TAS biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
TAS biological_process
GO:0007182 common-partner SMAD prote
in phosphorylation
IDA biological_process
GO:0007183 SMAD protein complex asse
mbly
IDA biological_process
GO:0007184 SMAD protein import into
nucleus
IDA biological_process
GO:0007219 Notch signaling pathway
IEA biological_process
GO:0007406 negative regulation of ne
uroblast proliferation
IEA biological_process
GO:0007435 salivary gland morphogene
sis
IEP biological_process
GO:0007492 endoderm development
IEA biological_process
GO:0007565 female pregnancy
IEA biological_process
GO:0007568 aging
IEA biological_process
GO:0008083 growth factor activity
IEA molecular_function
GO:0008156 negative regulation of DN
A replication
IMP biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008354 germ cell migration
IEA biological_process
GO:0009314 response to radiation
IEA biological_process
GO:0009611 response to wounding
IEP biological_process
GO:0009749 response to glucose
IEA biological_process
GO:0009817 defense response to fungu
s, incompatible interacti
on
IEA biological_process
GO:0009986 cell surface
IMP cellular_component
GO:0010575 positive regulation of va
scular endothelial growth
factor production
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010628 positive regulation of ge
ne expression
IGI biological_process
GO:0010629 negative regulation of ge
ne expression
IDA biological_process
GO:0010629 negative regulation of ge
ne expression
IDA biological_process
GO:0010629 negative regulation of ge
ne expression
IGI biological_process
GO:0010629 negative regulation of ge
ne expression
IDA biological_process
GO:0010716 negative regulation of ex
tracellular matrix disass
embly
IC biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IDA biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IDA biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
NAS biological_process
GO:0010742 macrophage derived foam c
ell differentiation
IC biological_process
GO:0010763 positive regulation of fi
broblast migration
IDA biological_process
GO:0010800 positive regulation of pe
ptidyl-threonine phosphor
ylation
IDA biological_process
GO:0010800 positive regulation of pe
ptidyl-threonine phosphor
ylation
IDA biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IDA biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IDA biological_process
GO:0010936 negative regulation of ma
crophage cytokine product
ion
IDA biological_process
GO:0014003 oligodendrocyte developme
nt
IEA biological_process
GO:0016049 cell growth
IEA biological_process
GO:0016202 regulation of striated mu
scle tissue development
ISS biological_process
GO:0016477 cell migration
IDA biological_process
GO:0017015 regulation of transformin
g growth factor beta rece
ptor signaling pathway
IDA biological_process
GO:0019049 evasion or tolerance of h
ost defenses by virus
IDA biological_process
GO:0019899 enzyme binding
IPI molecular_function
GO:0022408 negative regulation of ce
ll-cell adhesion
IDA biological_process
GO:0030214 hyaluronan catabolic proc
ess
IDA biological_process
GO:0030279 negative regulation of os
sification
IEA biological_process
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0030334 regulation of cell migrat
ion
TAS biological_process
GO:0030335 positive regulation of ce
ll migration
IDA biological_process
GO:0030424 axon
IEA cellular_component
GO:0030501 positive regulation of bo
ne mineralization
IEP biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0031065 positive regulation of hi
stone deacetylation
IEA biological_process
GO:0031093 platelet alpha granule lu
men
TAS cellular_component
GO:0031100 animal organ regeneration
IEA biological_process
GO:0031334 positive regulation of pr
otein complex assembly
IDA biological_process
GO:0031536 positive regulation of ex
it from mitosis
IEA biological_process
GO:0031663 lipopolysaccharide-mediat
ed signaling pathway
IDA biological_process
GO:0032270 positive regulation of ce
llular protein metabolic
process
IDA biological_process
GO:0032355 response to estradiol
IDA biological_process
GO:0032570 response to progesterone
IDA biological_process
GO:0032667 regulation of interleukin
-23 production
IEA biological_process
GO:0032700 negative regulation of in
terleukin-17 production
IEA biological_process
GO:0032740 positive regulation of in
terleukin-17 production
IDA biological_process
GO:0032801 receptor catabolic proces
s
IDA biological_process
GO:0032930 positive regulation of su
peroxide anion generation
IDA biological_process
GO:0032943 mononuclear cell prolifer
ation
IEA biological_process
GO:0032967 positive regulation of co
llagen biosynthetic proce
ss
IMP biological_process
GO:0032967 positive regulation of co
llagen biosynthetic proce
ss
IDA biological_process
GO:0032967 positive regulation of co
llagen biosynthetic proce
ss
IDA biological_process
GO:0032967 positive regulation of co
llagen biosynthetic proce
ss
IGI biological_process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0033280 response to vitamin D
IEA biological_process
GO:0034616 response to laminar fluid
shear stress
IEA biological_process
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IMP molecular_function
GO:0034714 type III transforming gro
wth factor beta receptor
binding
IMP molecular_function
GO:0035066 positive regulation of hi
stone acetylation
IEA biological_process
GO:0035307 positive regulation of pr
otein dephosphorylation
IDA biological_process
GO:0042130 negative regulation of T
cell proliferation
IEA biological_process
GO:0042306 regulation of protein imp
ort into nucleus
ISS biological_process
GO:0042307 positive regulation of pr
otein import into nucleus
IDA biological_process
GO:0042482 positive regulation of od
ontogenesis
IEA biological_process
GO:0042493 response to drug
IEA biological_process
GO:0042552 myelination
IEA biological_process
GO:0042803 protein homodimerization
activity
IEA molecular_function
GO:0042981 regulation of apoptotic p
rocess
IBA biological_process
GO:0043011 myeloid dendritic cell di
fferentiation
IEA biological_process
GO:0043025 neuronal cell body
IEA cellular_component
GO:0043029 T cell homeostasis
IEA biological_process
GO:0043065 positive regulation of ap
optotic process
IEA biological_process
GO:0043117 positive regulation of va
scular permeability
IDA biological_process
GO:0043406 positive regulation of MA
P kinase activity
IDA biological_process
GO:0043491 protein kinase B signalin
g
IMP biological_process
GO:0043536 positive regulation of bl
ood vessel endothelial ce
ll migration
IDA biological_process
GO:0043537 negative regulation of bl
ood vessel endothelial ce
ll migration
IDA biological_process
GO:0043539 protein serine/threonine
kinase activator activity
IEA molecular_function
GO:0043552 positive regulation of ph
osphatidylinositol 3-kina
se activity
IDA biological_process
GO:0043932 ossification involved in
bone remodeling
IEP biological_process
GO:0045066 regulatory T cell differe
ntiation
IEA biological_process
GO:0045216 cell-cell junction organi
zation
IDA biological_process
GO:0045591 positive regulation of re
gulatory T cell different
iation
IEA biological_process
GO:0045596 negative regulation of ce
ll differentiation
IEP biological_process
GO:0045599 negative regulation of fa
t cell differentiation
IDA biological_process
GO:0045662 negative regulation of my
oblast differentiation
IDA biological_process
GO:0045786 negative regulation of ce
ll cycle
IDA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
ISS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045930 negative regulation of mi
totic cell cycle
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0046732 active induction of host
immune response by virus
TAS biological_process
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0047485 protein N-terminus bindin
g
IEA molecular_function
GO:0048146 positive regulation of fi
broblast proliferation
IEA biological_process
GO:0048298 positive regulation of is
otype switching to IgA is
otypes
IDA biological_process
GO:0048535 lymph node development
ISS biological_process
GO:0048565 digestive tract developme
nt
IEA biological_process
GO:0048642 negative regulation of sk
eletal muscle tissue deve
lopment
IDA biological_process
GO:0048839 inner ear development
IEA biological_process
GO:0050679 positive regulation of ep
ithelial cell proliferati
on
IEA biological_process
GO:0050680 negative regulation of ep
ithelial cell proliferati
on
IMP biological_process
GO:0050680 negative regulation of ep
ithelial cell proliferati
on
IDA biological_process
GO:0050714 positive regulation of pr
otein secretion
IDA biological_process
GO:0050731 positive regulation of pe
ptidyl-tyrosine phosphory
lation
IDA biological_process
GO:0050765 negative regulation of ph
agocytosis
IEA biological_process
GO:0050921 positive regulation of ch
emotaxis
IDA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IEA biological_process
GO:0051098 regulation of binding
ISS biological_process
GO:0051101 regulation of DNA binding
ISS biological_process
GO:0051152 positive regulation of sm
ooth muscle cell differen
tiation
IEA biological_process
GO:0051280 negative regulation of re
lease of sequestered calc
ium ion into cytosol
IEA biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
IDA biological_process
GO:0060312 regulation of blood vesse
l remodeling
IC biological_process
GO:0060312 regulation of blood vesse
l remodeling
NAS biological_process
GO:0060325 face morphogenesis
IEA biological_process
GO:0060364 frontal suture morphogene
sis
IEA biological_process
GO:0060389 pathway-restricted SMAD p
rotein phosphorylation
IDA biological_process
GO:0060389 pathway-restricted SMAD p
rotein phosphorylation
IDA biological_process
GO:0060389 pathway-restricted SMAD p
rotein phosphorylation
IDA biological_process
GO:0060389 pathway-restricted SMAD p
rotein phosphorylation
IDA biological_process
GO:0060390 regulation of SMAD protei
n import into nucleus
IDA biological_process
GO:0060391 positive regulation of SM
AD protein import into nu
cleus
IDA biological_process
GO:0060391 positive regulation of SM
AD protein import into nu
cleus
IDA biological_process
GO:0060395 SMAD protein signal trans
duction
IBA biological_process
GO:0060744 mammary gland branching i
nvolved in thelarche
IEA biological_process
GO:0060751 branch elongation involve
d in mammary gland duct b
ranching
IEA biological_process
GO:0060762 regulation of branching i
nvolved in mammary gland
duct morphogenesis
IEA biological_process
GO:0060965 negative regulation of ge
ne silencing by miRNA
IGI biological_process
GO:0061035 regulation of cartilage d
evelopment
IEA biological_process
GO:0070306 lens fiber cell different
iation
IEA biological_process
GO:0070723 response to cholesterol
IDA biological_process
GO:0071158 positive regulation of ce
ll cycle arrest
IEA biological_process
GO:0071407 cellular response to orga
nic cyclic compound
IDA biological_process
GO:0071549 cellular response to dexa
methasone stimulus
IEA biological_process
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
IDA biological_process
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
IDA biological_process
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
IGI biological_process
GO:0072562 blood microparticle
IDA cellular_component
GO:0085029 extracellular matrix asse
mbly
IDA biological_process
GO:0090190 positive regulation of br
anching involved in urete
ric bud morphogenesis
IEA biological_process
GO:0097191 extrinsic apoptotic signa
ling pathway
IDA biological_process
GO:1900126 negative regulation of hy
aluronan biosynthetic pro
cess
IDA biological_process
GO:1901203 positive regulation of ex
tracellular matrix assemb
ly
IC biological_process
GO:1901666 positive regulation of NA
D+ ADP-ribosyltransferase
activity
IDA biological_process
GO:1903077 negative regulation of pr
otein localization to pla
sma membrane
IDA biological_process
GO:1903799 negative regulation of pr
oduction of miRNAs involv
ed in gene silencing by m
iRNA
IGI biological_process
GO:1903911 positive regulation of re
ceptor clustering
IEA biological_process
GO:2000249 regulation of actin cytos
keleton reorganization
IEA biological_process
GO:2000679 positive regulation of tr
anscription regulatory re
gion DNA binding
IDA biological_process
GO:2000727 positive regulation of ca
rdiac muscle cell differe
ntiation
IDA biological_process
GO:1905005 regulation of epithelial
to mesenchymal transition
involved in endocardial
cushion formation
ISS biological_process
GO:0005902 microvillus
IDA cellular_component
GO:0000060 protein import into nucle
us, translocation
IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0000165 MAPK cascade
IMP biological_process
GO:0001657 ureteric bud development
IEA biological_process
GO:0001666 response to hypoxia
IEA biological_process
GO:0001763 morphogenesis of a branch
ing structure
IEA biological_process
GO:0001775 cell activation
IEA biological_process
GO:0001837 epithelial to mesenchymal
transition
IEA biological_process
GO:0001837 epithelial to mesenchymal
transition
IDA biological_process
GO:0001933 negative regulation of pr
otein phosphorylation
IDA biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
IDA biological_process
GO:0001948 glycoprotein binding
IPI molecular_function
GO:0002028 regulation of sodium ion
transport
IEA biological_process
GO:0002062 chondrocyte differentiati
on
IDA biological_process
GO:0002244 hematopoietic progenitor
cell differentiation
IDA biological_process
GO:0002248 connective tissue replace
ment involved in inflamma
tory response wound heali
ng
TAS biological_process
GO:0002460 adaptive immune response
based on somatic recombin
ation of immune receptors
built from immunoglobuli
n superfamily domains
IEA biological_process
GO:0002513 tolerance induction to se
lf antigen
IEA biological_process
GO:0002576 platelet degranulation
TAS biological_process
GO:0003823 antigen binding
IPI molecular_function
GO:0005114 type II transforming grow
th factor beta receptor b
inding
IDA molecular_function
GO:0005114 type II transforming grow
th factor beta receptor b
inding
IPI molecular_function
GO:0005114 type II transforming grow
th factor beta receptor b
inding
IMP molecular_function
GO:0005125 cytokine activity
TAS molecular_function
GO:0005160 transforming growth facto
r beta receptor binding
IEA molecular_function
GO:0005160 transforming growth facto
r beta receptor binding
IEA molecular_function
GO:0005160 transforming growth facto
r beta receptor binding
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
IEA cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
ISS cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
IEA cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
IEA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005796 Golgi lumen
TAS cellular_component
GO:0005796 Golgi lumen
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006468 protein phosphorylation
IEA biological_process
GO:0006468 protein phosphorylation
ISS biological_process
GO:0006611 protein export from nucle
us
IDA biological_process
GO:0006611 protein export from nucle
us
IDA biological_process
GO:0006611 protein export from nucle
us
IDA biological_process
GO:0006754 ATP biosynthetic process
IDA biological_process
GO:0006796 phosphate-containing comp
ound metabolic process
IDA biological_process
GO:0006874 cellular calcium ion home
ostasis
IEA biological_process
GO:0006954 inflammatory response
IEA biological_process
GO:0006954 inflammatory response
IDA biological_process
GO:0007050 cell cycle arrest
IDA biological_process
GO:0007093 mitotic cell cycle checkp
oint
IDA biological_process
GO:0007173 epidermal growth factor r
eceptor signaling pathway
IDA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IEA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
TAS biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
TAS biological_process
GO:0007182 common-partner SMAD prote
in phosphorylation
IDA biological_process
GO:0007183 SMAD protein complex asse
mbly
IDA biological_process
GO:0007184 SMAD protein import into
nucleus
IEA biological_process
GO:0007184 SMAD protein import into
nucleus
IDA biological_process
GO:0007219 Notch signaling pathway
IEA biological_process
GO:0007406 negative regulation of ne
uroblast proliferation
IEA biological_process
GO:0007435 salivary gland morphogene
sis
IEP biological_process
GO:0007492 endoderm development
IEA biological_process
GO:0007565 female pregnancy
IEA biological_process
GO:0007568 aging
IEA biological_process
GO:0008083 growth factor activity
IEA molecular_function
GO:0008083 growth factor activity
IEA molecular_function
GO:0008156 negative regulation of DN
A replication
IMP biological_process
GO:0008283 cell proliferation
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008354 germ cell migration
IEA biological_process
GO:0009314 response to radiation
IEA biological_process
GO:0009611 response to wounding
IEP biological_process
GO:0009749 response to glucose
IEA biological_process
GO:0009817 defense response to fungu
s, incompatible interacti
on
IEA biological_process
GO:0009986 cell surface
IEA cellular_component
GO:0009986 cell surface
IMP cellular_component
GO:0010033 response to organic subst
ance
IEA biological_process
GO:0010468 regulation of gene expres
sion
IEA biological_process
GO:0010575 positive regulation of va
scular endothelial growth
factor production
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
IEA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010628 positive regulation of ge
ne expression
IGI biological_process
GO:0010629 negative regulation of ge
ne expression
IDA biological_process
GO:0010629 negative regulation of ge
ne expression
IDA biological_process
GO:0010629 negative regulation of ge
ne expression
IGI biological_process
GO:0010629 negative regulation of ge
ne expression
IDA biological_process
GO:0010716 negative regulation of ex
tracellular matrix disass
embly
IC biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IEA biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IDA biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IDA biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
NAS biological_process
GO:0010742 macrophage derived foam c
ell differentiation
IC biological_process
GO:0010763 positive regulation of fi
broblast migration
IEA biological_process
GO:0010763 positive regulation of fi
broblast migration
IDA biological_process
GO:0010800 positive regulation of pe
ptidyl-threonine phosphor
ylation
IDA biological_process
GO:0010800 positive regulation of pe
ptidyl-threonine phosphor
ylation
IDA biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IDA biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IDA biological_process
GO:0010936 negative regulation of ma
crophage cytokine product
ion
IDA biological_process
GO:0014003 oligodendrocyte developme
nt
IEA biological_process
GO:0014070 response to organic cycli
c compound
IEA biological_process
GO:0016049 cell growth
IEA biological_process
GO:0016202 regulation of striated mu
scle tissue development
IEA biological_process
GO:0016202 regulation of striated mu
scle tissue development
ISS biological_process
GO:0016477 cell migration
IDA biological_process
GO:0017015 regulation of transformin
g growth factor beta rece
ptor signaling pathway
IDA biological_process
GO:0019049 evasion or tolerance of h
ost defenses by virus
IDA biological_process
GO:0019899 enzyme binding
IPI molecular_function
GO:0022408 negative regulation of ce
ll-cell adhesion
IDA biological_process
GO:0030141 secretory granule
IEA cellular_component
GO:0030214 hyaluronan catabolic proc
ess
IDA biological_process
GO:0030217 T cell differentiation
IEA biological_process
GO:0030279 negative regulation of os
sification
IEA biological_process
GO:0030308 negative regulation of ce
ll growth
IEA biological_process
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0030334 regulation of cell migrat
ion
TAS biological_process
GO:0030335 positive regulation of ce
ll migration
IDA biological_process
GO:0030424 axon
IEA cellular_component
GO:0030501 positive regulation of bo
ne mineralization
IEP biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030879 mammary gland development
IEA biological_process
GO:0031065 positive regulation of hi
stone deacetylation
IEA biological_process
GO:0031093 platelet alpha granule lu
men
TAS cellular_component
GO:0031100 animal organ regeneration
IEA biological_process
GO:0031334 positive regulation of pr
otein complex assembly
IDA biological_process
GO:0031536 positive regulation of ex
it from mitosis
IEA biological_process
GO:0031663 lipopolysaccharide-mediat
ed signaling pathway
IDA biological_process
GO:0032270 positive regulation of ce
llular protein metabolic
process
IDA biological_process
GO:0032355 response to estradiol
IEA biological_process
GO:0032355 response to estradiol
IDA biological_process
GO:0032570 response to progesterone
IDA biological_process
GO:0032667 regulation of interleukin
-23 production
IEA biological_process
GO:0032700 negative regulation of in
terleukin-17 production
IEA biological_process
GO:0032740 positive regulation of in
terleukin-17 production
IEA biological_process
GO:0032740 positive regulation of in
terleukin-17 production
IDA biological_process
GO:0032801 receptor catabolic proces
s
IDA biological_process
GO:0032930 positive regulation of su
peroxide anion generation
IDA biological_process
GO:0032943 mononuclear cell prolifer
ation
IEA biological_process
GO:0032967 positive regulation of co
llagen biosynthetic proce
ss
IEA biological_process
GO:0032967 positive regulation of co
llagen biosynthetic proce
ss
IMP biological_process
GO:0032967 positive regulation of co
llagen biosynthetic proce
ss
IDA biological_process
GO:0032967 positive regulation of co
llagen biosynthetic proce
ss
IDA biological_process
GO:0032967 positive regulation of co
llagen biosynthetic proce
ss
IGI biological_process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0033280 response to vitamin D
IEA biological_process
GO:0034616 response to laminar fluid
shear stress
IEA biological_process
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IMP molecular_function
GO:0034714 type III transforming gro
wth factor beta receptor
binding
IMP molecular_function
GO:0035066 positive regulation of hi
stone acetylation
IEA biological_process
GO:0035307 positive regulation of pr
otein dephosphorylation
IDA biological_process
GO:0040007 growth
IEA biological_process
GO:0042060 wound healing
IEA biological_process
GO:0042110 T cell activation
IEA biological_process
GO:0042127 regulation of cell prolif
eration
IEA biological_process
GO:0042130 negative regulation of T
cell proliferation
IEA biological_process
GO:0042306 regulation of protein imp
ort into nucleus
IEA biological_process
GO:0042306 regulation of protein imp
ort into nucleus
ISS biological_process
GO:0042307 positive regulation of pr
otein import into nucleus
IDA biological_process
GO:0042482 positive regulation of od
ontogenesis
IEA biological_process
GO:0042493 response to drug
IEA biological_process
GO:0042552 myelination
IEA biological_process
GO:0042803 protein homodimerization
activity
IEA molecular_function
GO:0042981 regulation of apoptotic p
rocess
IBA biological_process
GO:0043011 myeloid dendritic cell di
fferentiation
IEA biological_process
GO:0043025 neuronal cell body
IEA cellular_component
GO:0043029 T cell homeostasis
IEA biological_process
GO:0043065 positive regulation of ap
optotic process
IEA biological_process
GO:0043117 positive regulation of va
scular permeability
IDA biological_process
GO:0043406 positive regulation of MA
P kinase activity
IDA biological_process
GO:0043491 protein kinase B signalin
g
IMP biological_process
GO:0043536 positive regulation of bl
ood vessel endothelial ce
ll migration
IDA biological_process
GO:0043537 negative regulation of bl
ood vessel endothelial ce
ll migration
IDA biological_process
GO:0043539 protein serine/threonine
kinase activator activity
IEA molecular_function
GO:0043552 positive regulation of ph
osphatidylinositol 3-kina
se activity
IDA biological_process
GO:0043932 ossification involved in
bone remodeling
IEP biological_process
GO:0045066 regulatory T cell differe
ntiation
IEA biological_process
GO:0045216 cell-cell junction organi
zation
IDA biological_process
GO:0045589 regulation of regulatory
T cell differentiation
IEA biological_process
GO:0045591 positive regulation of re
gulatory T cell different
iation
IEA biological_process
GO:0045596 negative regulation of ce
ll differentiation
IEP biological_process
GO:0045599 negative regulation of fa
t cell differentiation
IDA biological_process
GO:0045662 negative regulation of my
oblast differentiation
IDA biological_process
GO:0045786 negative regulation of ce
ll cycle
IDA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IEA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
ISS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045930 negative regulation of mi
totic cell cycle
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0046732 active induction of host
immune response by virus
TAS biological_process
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0047485 protein N-terminus bindin
g
IEA molecular_function
GO:0048146 positive regulation of fi
broblast proliferation
IEA biological_process
GO:0048298 positive regulation of is
otype switching to IgA is
otypes
IDA biological_process
GO:0048535 lymph node development
IEA biological_process
GO:0048535 lymph node development
ISS biological_process
GO:0048565 digestive tract developme
nt
IEA biological_process
GO:0048642 negative regulation of sk
eletal muscle tissue deve
lopment
IDA biological_process
GO:0048839 inner ear development
IEA biological_process
GO:0050679 positive regulation of ep
ithelial cell proliferati
on
IEA biological_process
GO:0050680 negative regulation of ep
ithelial cell proliferati
on
IEA biological_process
GO:0050680 negative regulation of ep
ithelial cell proliferati
on
IMP biological_process
GO:0050680 negative regulation of ep
ithelial cell proliferati
on
IDA biological_process
GO:0050714 positive regulation of pr
otein secretion
IDA biological_process
GO:0050731 positive regulation of pe
ptidyl-tyrosine phosphory
lation
IDA biological_process
GO:0050765 negative regulation of ph
agocytosis
IEA biological_process
GO:0050777 negative regulation of im
mune response
IEA biological_process
GO:0050868 negative regulation of T
cell activation
IEA biological_process
GO:0050921 positive regulation of ch
emotaxis
IDA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IEA biological_process
GO:0051098 regulation of binding
IEA biological_process
GO:0051098 regulation of binding
ISS biological_process
GO:0051101 regulation of DNA binding
IEA biological_process
GO:0051101 regulation of DNA binding
ISS biological_process
GO:0051152 positive regulation of sm
ooth muscle cell differen
tiation
IEA biological_process
GO:0051280 negative regulation of re
lease of sequestered calc
ium ion into cytosol
IEA biological_process
GO:0051781 positive regulation of ce
ll division
IEA biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
IDA biological_process
GO:0060312 regulation of blood vesse
l remodeling
IC biological_process
GO:0060312 regulation of blood vesse
l remodeling
NAS biological_process
GO:0060325 face morphogenesis
IEA biological_process
GO:0060364 frontal suture morphogene
sis
IEA biological_process
GO:0060389 pathway-restricted SMAD p
rotein phosphorylation
IEA biological_process
GO:0060389 pathway-restricted SMAD p
rotein phosphorylation
IDA biological_process
GO:0060389 pathway-restricted SMAD p
rotein phosphorylation
IDA biological_process
GO:0060389 pathway-restricted SMAD p
rotein phosphorylation
IDA biological_process
GO:0060389 pathway-restricted SMAD p
rotein phosphorylation
IDA biological_process
GO:0060390 regulation of SMAD protei
n import into nucleus
IDA biological_process
GO:0060391 positive regulation of SM
AD protein import into nu
cleus
IDA biological_process
GO:0060391 positive regulation of SM
AD protein import into nu
cleus
IDA biological_process
GO:0060395 SMAD protein signal trans
duction
IBA biological_process
GO:0060744 mammary gland branching i
nvolved in thelarche
IEA biological_process
GO:0060751 branch elongation involve
d in mammary gland duct b
ranching
IEA biological_process
GO:0060762 regulation of branching i
nvolved in mammary gland
duct morphogenesis
IEA biological_process
GO:0060965 negative regulation of ge
ne silencing by miRNA
IGI biological_process
GO:0061035 regulation of cartilage d
evelopment
IEA biological_process
GO:0070306 lens fiber cell different
iation
IEA biological_process
GO:0070723 response to cholesterol
IDA biological_process
GO:0071158 positive regulation of ce
ll cycle arrest
IEA biological_process
GO:0071363 cellular response to grow
th factor stimulus
IEA biological_process
GO:0071407 cellular response to orga
nic cyclic compound
IDA biological_process
GO:0071549 cellular response to dexa
methasone stimulus
IEA biological_process
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
IEA biological_process
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
IDA biological_process
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
IDA biological_process
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
IGI biological_process
GO:0072562 blood microparticle
IDA cellular_component
GO:0085029 extracellular matrix asse
mbly
IEA biological_process
GO:0085029 extracellular matrix asse
mbly
IDA biological_process
GO:0090190 positive regulation of br
anching involved in urete
ric bud morphogenesis
IEA biological_process
GO:0097191 extrinsic apoptotic signa
ling pathway
IDA biological_process
GO:1900126 negative regulation of hy
aluronan biosynthetic pro
cess
IDA biological_process
GO:1900182 positive regulation of pr
otein localization to nuc
leus
IEA biological_process
GO:1901203 positive regulation of ex
tracellular matrix assemb
ly
IC biological_process
GO:1901666 positive regulation of NA
D+ ADP-ribosyltransferase
activity
IDA biological_process
GO:1903077 negative regulation of pr
otein localization to pla
sma membrane
IDA biological_process
GO:1903799 negative regulation of pr
oduction of miRNAs involv
ed in gene silencing by m
iRNA
IGI biological_process
GO:1903911 positive regulation of re
ceptor clustering
IEA biological_process
GO:2000249 regulation of actin cytos
keleton reorganization
IEA biological_process
GO:2000679 positive regulation of tr
anscription regulatory re
gion DNA binding
IDA biological_process
GO:2000727 positive regulation of ca
rdiac muscle cell differe
ntiation
IDA biological_process
GO:1905005 regulation of epithelial
to mesenchymal transition
involved in endocardial
cushion formation
ISS biological_process
GO:0005902 microvillus
IDA cellular_component
GO:0000060 protein import into nucle
us, translocation
IDA biological_process
GO:0000165 MAPK cascade
IMP biological_process
GO:0001837 epithelial to mesenchymal
transition
IDA biological_process
GO:0001933 negative regulation of pr
otein phosphorylation
IDA biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
IDA biological_process
GO:0001948 glycoprotein binding
IPI molecular_function
GO:0002062 chondrocyte differentiati
on
IDA biological_process
GO:0002244 hematopoietic progenitor
cell differentiation
IDA biological_process
GO:0002248 connective tissue replace
ment involved in inflamma
tory response wound heali
ng
TAS biological_process
GO:0002576 platelet degranulation
TAS biological_process
GO:0003823 antigen binding
IPI molecular_function
GO:0005114 type II transforming grow
th factor beta receptor b
inding
IDA molecular_function
GO:0005114 type II transforming grow
th factor beta receptor b
inding
IPI molecular_function
GO:0005114 type II transforming grow
th factor beta receptor b
inding
IMP molecular_function
GO:0005125 cytokine activity
TAS molecular_function
GO:0005160 transforming growth facto
r beta receptor binding
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
ISS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005796 Golgi lumen
TAS cellular_component
GO:0005796 Golgi lumen
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006468 protein phosphorylation
ISS biological_process
GO:0006611 protein export from nucle
us
IDA biological_process
GO:0006611 protein export from nucle
us
IDA biological_process
GO:0006611 protein export from nucle
us
IDA biological_process
GO:0006754 ATP biosynthetic process
IDA biological_process
GO:0006796 phosphate-containing comp
ound metabolic process
IDA biological_process
GO:0006954 inflammatory response
IDA biological_process
GO:0007050 cell cycle arrest
IDA biological_process
GO:0007093 mitotic cell cycle checkp
oint
IDA biological_process
GO:0007173 epidermal growth factor r
eceptor signaling pathway
IDA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
TAS biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
TAS biological_process
GO:0007182 common-partner SMAD prote
in phosphorylation
IDA biological_process
GO:0007183 SMAD protein complex asse
mbly
IDA biological_process
GO:0007184 SMAD protein import into
nucleus
IDA biological_process
GO:0007435 salivary gland morphogene
sis
IEP biological_process
GO:0008156 negative regulation of DN
A replication
IMP biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0009611 response to wounding
IEP biological_process
GO:0009986 cell surface
IMP cellular_component
GO:0010575 positive regulation of va
scular endothelial growth
factor production
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010628 positive regulation of ge
ne expression
IGI biological_process
GO:0010629 negative regulation of ge
ne expression
IDA biological_process
GO:0010629 negative regulation of ge
ne expression
IDA biological_process
GO:0010629 negative regulation of ge
ne expression
IGI biological_process
GO:0010629 negative regulation of ge
ne expression
IDA biological_process
GO:0010716 negative regulation of ex
tracellular matrix disass
embly
IC biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IDA biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IDA biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
NAS biological_process
GO:0010742 macrophage derived foam c
ell differentiation
IC biological_process
GO:0010763 positive regulation of fi
broblast migration
IDA biological_process
GO:0010800 positive regulation of pe
ptidyl-threonine phosphor
ylation
IDA biological_process
GO:0010800 positive regulation of pe
ptidyl-threonine phosphor
ylation
IDA biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IDA biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IDA biological_process
GO:0010936 negative regulation of ma
crophage cytokine product
ion
IDA biological_process
GO:0016202 regulation of striated mu
scle tissue development
ISS biological_process
GO:0016477 cell migration
IDA biological_process
GO:0017015 regulation of transformin
g growth factor beta rece
ptor signaling pathway
IDA biological_process
GO:0019049 evasion or tolerance of h
ost defenses by virus
IDA biological_process
GO:0019899 enzyme binding
IPI molecular_function
GO:0022408 negative regulation of ce
ll-cell adhesion
IDA biological_process
GO:0030214 hyaluronan catabolic proc
ess
IDA biological_process
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0030334 regulation of cell migrat
ion
TAS biological_process
GO:0030335 positive regulation of ce
ll migration
IDA biological_process
GO:0030501 positive regulation of bo
ne mineralization
IEP biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0031093 platelet alpha granule lu
men
TAS cellular_component
GO:0031334 positive regulation of pr
otein complex assembly
IDA biological_process
GO:0031663 lipopolysaccharide-mediat
ed signaling pathway
IDA biological_process
GO:0032270 positive regulation of ce
llular protein metabolic
process
IDA biological_process
GO:0032355 response to estradiol
IDA biological_process
GO:0032570 response to progesterone
IDA biological_process
GO:0032740 positive regulation of in
terleukin-17 production
IDA biological_process
GO:0032801 receptor catabolic proces
s
IDA biological_process
GO:0032930 positive regulation of su
peroxide anion generation
IDA biological_process
GO:0032967 positive regulation of co
llagen biosynthetic proce
ss
IMP biological_process
GO:0032967 positive regulation of co
llagen biosynthetic proce
ss
IDA biological_process
GO:0032967 positive regulation of co
llagen biosynthetic proce
ss
IDA biological_process
GO:0032967 positive regulation of co
llagen biosynthetic proce
ss
IGI biological_process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IMP molecular_function
GO:0034714 type III transforming gro
wth factor beta receptor
binding
IMP molecular_function
GO:0035307 positive regulation of pr
otein dephosphorylation
IDA biological_process
GO:0042306 regulation of protein imp
ort into nucleus
ISS biological_process
GO:0042307 positive regulation of pr
otein import into nucleus
IDA biological_process
GO:0042981 regulation of apoptotic p
rocess
IBA biological_process
GO:0043117 positive regulation of va
scular permeability
IDA biological_process
GO:0043406 positive regulation of MA
P kinase activity
IDA biological_process
GO:0043491 protein kinase B signalin
g
IMP biological_process
GO:0043536 positive regulation of bl
ood vessel endothelial ce
ll migration
IDA biological_process
GO:0043537 negative regulation of bl
ood vessel endothelial ce
ll migration
IDA biological_process
GO:0043552 positive regulation of ph
osphatidylinositol 3-kina
se activity
IDA biological_process
GO:0043932 ossification involved in
bone remodeling
IEP biological_process
GO:0045216 cell-cell junction organi
zation
IDA biological_process
GO:0045596 negative regulation of ce
ll differentiation
IEP biological_process
GO:0045599 negative regulation of fa
t cell differentiation
IDA biological_process
GO:0045662 negative regulation of my
oblast differentiation
IDA biological_process
GO:0045786 negative regulation of ce
ll cycle
IDA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
ISS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045930 negative regulation of mi
totic cell cycle
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0046732 active induction of host
immune response by virus
TAS biological_process
GO:0048298 positive regulation of is
otype switching to IgA is
otypes
IDA biological_process
GO:0048535 lymph node development
ISS biological_process
GO:0048642 negative regulation of sk
eletal muscle tissue deve
lopment
IDA biological_process
GO:0050680 negative regulation of ep
ithelial cell proliferati
on
IMP biological_process
GO:0050680 negative regulation of ep
ithelial cell proliferati
on
IDA biological_process
GO:0050714 positive regulation of pr
otein secretion
IDA biological_process
GO:0050731 positive regulation of pe
ptidyl-tyrosine phosphory
lation
IDA biological_process
GO:0050921 positive regulation of ch
emotaxis
IDA biological_process
GO:0051098 regulation of binding
ISS biological_process
GO:0051101 regulation of DNA binding
ISS biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
IDA biological_process
GO:0060312 regulation of blood vesse
l remodeling
IC biological_process
GO:0060312 regulation of blood vesse
l remodeling
NAS biological_process
GO:0060389 pathway-restricted SMAD p
rotein phosphorylation
IDA biological_process
GO:0060389 pathway-restricted SMAD p
rotein phosphorylation
IDA biological_process
GO:0060389 pathway-restricted SMAD p
rotein phosphorylation
IDA biological_process
GO:0060389 pathway-restricted SMAD p
rotein phosphorylation
IDA biological_process
GO:0060390 regulation of SMAD protei
n import into nucleus
IDA biological_process
GO:0060391 positive regulation of SM
AD protein import into nu
cleus
IDA biological_process
GO:0060391 positive regulation of SM
AD protein import into nu
cleus
IDA biological_process
GO:0060395 SMAD protein signal trans
duction
IBA biological_process
GO:0060965 negative regulation of ge
ne silencing by miRNA
IGI biological_process
GO:0070723 response to cholesterol
IDA biological_process
GO:0071407 cellular response to orga
nic cyclic compound
IDA biological_process
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
IDA biological_process
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
IDA biological_process
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
IGI biological_process
GO:0072562 blood microparticle
IDA cellular_component
GO:0085029 extracellular matrix asse
mbly
IDA biological_process
GO:0097191 extrinsic apoptotic signa
ling pathway
IDA biological_process
GO:1900126 negative regulation of hy
aluronan biosynthetic pro
cess
IDA biological_process
GO:1901203 positive regulation of ex
tracellular matrix assemb
ly
IC biological_process
GO:1901666 positive regulation of NA
D+ ADP-ribosyltransferase
activity
IDA biological_process
GO:1903077 negative regulation of pr
otein localization to pla
sma membrane
IDA biological_process
GO:1903799 negative regulation of pr
oduction of miRNAs involv
ed in gene silencing by m
iRNA
IGI biological_process
GO:2000679 positive regulation of tr
anscription regulatory re
gion DNA binding
IDA biological_process
GO:2000727 positive regulation of ca
rdiac muscle cell differe
ntiation
IDA biological_process
GO:1905005 regulation of epithelial
to mesenchymal transition
involved in endocardial
cushion formation
ISS biological_process
GO:0005902 microvillus
IDA cellular_component

KEGG pathways

hsa05200  Pathways in cancer
hsa04060  Cytokine-cytokine receptor interaction
hsa05166  HTLV-I infection
hsa05205  Proteoglycans in cancer
hsa04010  MAPK signaling pathway
hsa05152  Tuberculosis
hsa05161  Hepatitis B
hsa04068  FoxO signaling pathway
hsa05145  Toxoplasmosis
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04659  Th17 cell differentiation
hsa04144  Endocytosis
hsa05142  Chagas disease
hsa04390  Hippo signaling pathway
hsa04380  Osteoclast differentiation
hsa04932  Non-alcoholic fatty liver disease
hsa05323  Rheumatoid arthritis
hsa05321  Inflammatory bowel disease
hsa04110  Cell cycle
hsa05146  Amoebiasis
hsa05140  Leishmaniasis
hsa05220  Chronic myeloid leukemia
hsa05212  Pancreatic cancer
hsa05210  Colorectal cancer
hsa04350  TGF-beta signaling pathway
hsa05144  Malaria
hsa05211  Renal cell carcinoma
hsa05410  Hypertrophic cardiomyopathy
hsa05414  Dilated cardiomyopathy
hsa04672  Intestinal immune network for IgA production

Diseases

Associated diseases References
Adenomyosis PMID: 14597251
Albuminuria PMID: 18293167
Allergic rhinitis PMID: 15120189
Alveolitis PMID: 16722148
Alzheimer's disease PMID: 17986101
Andrological diseases PMID: 9570740
Ankylosing spondylitis PMID: 12890863
Aortic aneurysm PMID: 15944607
Asthenozoospermia PMID: 17341438
Asthma PMID: 16387590
Atopic dermatitis PMID: 11496247
Autoimmune diseases PMID: 12050565
Camurati-Engelmann disease KEGG: H00434
Cancer PMID: 18281501
Celiac disease PMID: 16287542
Chronic obstructive pulmonary disease (COPD) PMID: 16456143
Chronic ulcerative colitis PMID: 17367219
Congenital absence of the vas deferens (CAVD) PMID: 24958810
Corneal Dystrophies PMID: 14767644
Crohn's disease PMID: 11345594
Cystic fibrosis PMID: 17052957
Dementia PMID: 16635548
Diabetes PMID: 12500218
Diabetic nephropathy PMID: 17173255
Endometrial receptivity PMID: 11554692
Endometriosis PMID: 26708185
Endometriosis PMID: 21546388
Female infertility PMID: 10357971
Fibrosis PMID: 12974899
Gential endometriosis PMID: 16027877
Gingival overgrowth PMID: 16671880
Glaucoma PMID: 17570736
Glomerulonephritis PMID: 15191521
Hemochromatosis PMID: 15941661
Henoch-Schonlein purpura PMID: 15257453
Hypersensitivity PMID: 16179826
Hypodontia PMID: 15529502
Idiopathic thrombocytopenic purpura PMID: 14608199
Immune system diseases PMID: 18321307
Inflammation PMID: 17989610
inflammatory bowel disease PMID: 15842590
Juvenile arthritis PMID: 15170937
Keloid disease PMID: 15009106
Kidney disease PMID: 12787424
Leiomyoma PMID: 14597251
Leydig cell hyperplasia PMID: 21126344
Liver disease PMID: 14642613
Male infertility PMID: 26648778
Endometriosis INFBASE28438065
External gential endometriosis INFBASE16027877
Metabolism disorders PMID: 14557872
Multiple sclerosis PMID: 16183136
Myopia PMID: 12601022
Nephropathy PMID: 15593052
Obesity PMID: 12649573
Oligozoospermia PMID: 17341438
Osteoporosis KEGG: H01593
Pancreatitis PMID: 15917409
Pemphigus PMID: 15650893
Periodontitis PMID: 18321309
Polycystic kidney disease PMID: 12572925
Endometriosis INFBASE27130956
Polycystic ovary syndrome (PCOS) PMID: 20630504
Preeclampsia PMID: 19474289
Premature birth PMID: 15592292
Premature ovarian failure ( POF) PMID: 23858805
Preterm delivery PMID: 17145371
Primary ovarian insufficiency (POI) PMID: 22342295
Prostatic hyperplasia PMID: 16461080
Psoriasis PMID: 17560118
Pulmonary fibrosis PMID: 12746254
Recurrent empty follicle syndrome PMID: 17007665
Recurrent pregnancy loss (RPL)/ Abortion/ Miscarriage/ Recurrent pregnancy failure/Pregnancy loss/ Recurrent miscarriage/ Spontaneous abortion PMID: 15938776
Repeated implantation failure (RIF) PMID: 22201617
Respiratory hypersensitivity PMID: 17071067
Rheumatoid arthritis PMID: 15794197
Rheumatoid spondylitis PMID: 15769917
Sarcoidosis PMID: 11436536
Sertoli cell-only syndrome (SCOS) PMID: 21126344
Sjogren's syndrome PMID: 14872501
Spermatogenetic defects PMID: 4003767
Sudden infant death syndrome (SIDS) PMID: 16916659
Systemic lupus erythematosus PMID: 12630751
Systemic sclerosis PMID: 12117671
Unexplained infertility PMID: 12607776
Urticaria PMID: 17237561
Uterine cervical incompetence PMID: 17766609
Wegener granulomatosis PMID: 11715070

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26675296 Endometrio
sis

55 (47 patient
tissues (23 wit
h adenomyotic m
yometrium, 24 w
ith chocolate c
yst))
OCT4
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27130956 Endometrio
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28300844 Endometrio
sis


IL10
IL27
IL6 and TGFB1
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27385728 Endometrio
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14607563 Endometrio
sis

45 (35 patients
diagnosed with
endometriosis,
10 patients wi
thout endometri
osis)
TGFbeta1
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26577912 Endometrio
sis

29 women with e
ndometriosis

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25207642 Endometrio
sis

31 ( 16 control
peritoneum and
peritoneum pro
ne to endometri
osis (within Po
uch of Douglas)
from women wit
hout disease, 1
5 peritoneum di
stal and adjace
nt to endometri
osis lesions in
women with end
ometriosis)
Female infertility
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21546388 Endometrio
sis


TGFB1
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26708185 Endometrio
sis

33 (13 women wi
th ovarian endo
metriosis (case
s), 10 eutopic
endometria, 10
women with non
endometriotic d
iseases (contro
ls))
HtrA1
TGFb1
pSmad and Ki67
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21623988 Endometrio
sis
TGFB1-509C/T and 868T/C Korean
238 (131 women
with endometrio
sis, 107 withou
t endometriosis
)
Female infertility TGFB1
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20663498 Endometrio
sis
TGFB1 (-509 C/T polymorphism)

TGFB1
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16027877 Endometrio
sis (Genit
al)


Female infertility IL-1beta
IL-2
IL-6
TGFbeta
VEGF
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8290196 Endometrio
sis

52 (26 women wi
th endometriosi
s, 26 women wit
hout endometrio
sis)
TGF-beta
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17644809 Endometrio
sis
-509C/T
260 (72 women w
ith deep infilt
rating endometr
iosis, 95 gynec
ological patien
ts without symp
toms of endomet
riosis, 93 heal
thy females)
TGF-beta 1
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16150151 Endometrio
sis

64 (30 women wi
th endometriosi
s, 34 fertile e
umenorrheic wom
en )
C-myc
TGF-beta1
Bax
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17506371 Endometrio
sis


TGF-beta1
uPA
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21623988 Endometrio
sis
TGFB1-509C/T and 868T/C Korean
238 (131 woman
with endometrio
sis, 107 withou
t endometriosis
)

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16144297 Endometrio
sis

309 (150 patien
ts with endomet
riosis, 159 non
-endometriosis)
TGF-B1
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28438065 Endometrio
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TGFB1
Snail
CDH1
VIM
PCNA
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