MCID: END042
MIFTS: 78

Endometrial Carcinoma malady

Cancer diseases category

Summaries for Endometrial Carcinoma

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Endometrial cancer is any of several types of malignancies that arise from the endometrium, or lining,... more...

MalaCards: Endometrial Carcinoma, also known as endometrial cancer, is related to adenocarcinoma and papillary carcinoma. An important gene associated with Endometrial Carcinoma is MSH3 (mutS homolog 3), and among its related pathways are Pathways in cancer and Endometrial cancer. The compounds progesterone and retinoic acid have been mentioned in the context of this disorder. Affiliated tissues include the tissue lining the uterus, uterus and lymph node, and related mouse phenotypes are cellular and tumorigenesis.

Disease Ontology:8 A endometrial cancer that is located in the tissue lining the uterus.

Description from OMIM:46 608089

Aliases & Classifications for Endometrial Carcinoma

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Sources:
8Disease Ontology, 46OMIM, 44Novoseek, 60UMLS, 9diseasecard, 42NIH Rare Diseases, 22GTR, 10DISEASES, 34MeSH, 56SNOMED-CT, 39NCIt, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases


Aliases & Descriptions:

endometrial carcinoma 8 46 44 60
endometrial cancer 9 42 22 46 10 44
endometrioid carcinoma of female reproductive system 8
carcinoma of the endometrium 8
carcinoma of endometrium 8
carcinoma, endometrioid 60
endometrioid carcinoma 8
carcinoma endometrioid 44


External Ids:

Disease Ontology8 DOID:2871
MeSH34 D018269
OMIM46 608089
NCIt39 C3769
ICD1025 C54.1

Related Diseases for Endometrial Carcinoma

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Endometrial Carcinoma family:

Endometrial Cancer, Familial

Diseases related to Endometrial Carcinoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 256)
idRelated DiseaseScoreTop Affiliating Genes
1adenocarcinoma30.8IFI27, CTNNB1, ARSH, PIK3CA, MLH1, MKI67
2papillary carcinoma30.7ESR1, PGR, CDH1, MKI67, IFI27
3endometriosis30.6ARSH, HOXA10, PGR, PTEN, ESR1
4transitional cell carcinoma30.4IFI27, MLH1, MKI67, CDH1
5lynch syndrome30.4MLH1, MLH3, KRAS, MSH3
6ovarian cancer30.3KLK4, IFI27, CTNNB1, PIK3CA, MLH1, CDH1
7colorectal cancer30.3IFI27, CTNNB1, PTEN, MSH3, KRAS, CDH1
8breast cancer30.3IFI27, CTNNB1, PIK3CA, CDH1, PGR, KRAS
9cervical adenocarcinoma30.3IFI27, CDKN2A, PGR, ESR1
10retinoblastoma30.2IFI27, PIK3CA, MKI67, CDKN2A, KRAS, ESR1
11cervical cancer30.2IFI27, PIK3CA, MLH1, CDKN2A, KRAS
12squamous cell carcinoma30.1MKI67, CDH1, MMP26
13pancreatic cancer30.1IFI27, CTNNB1, ARSH, PIK3CA, MLH1, ANG
14endometrial carcinoma, somatic30.1CDH1, PTEN
15myoma30.1PGR, ESR1
16adenocarcinoma in situ30.1CDKN2A
17leiomyoma30.1ESR1, PGR, MKI67
18infertility30.1ESR1, HOXA10
19pancreatitis30.1KRAS
20cystadenoma30.0KRAS
21colon cancer29.9CTNNB1, PIK3CA, MLH1, CDH1, KRAS, TDGF1P3
22lung cancer29.9PIK3CA, CDKN2A, CDH1, KRAS, PTEN
23melanoma29.9IFI27, CTNNB1, PIK3CA, MLH1, ANG, MKI67
24sarcoma29.9MLH1, MKI67, KRAS
25tuberous sclerosis29.9PTEN, PIK3CA, IFI27
26inflammatory breast carcinoma29.9ESR1, PGR, CDH1
27papilloma29.9CDKN2A, IFI27
28prolactinoma29.9ESR1
29prostate cancer29.9IFI27, CTNNB1, MKI67, CDH1, MMP26, PTEN
30endometrial stromal sarcoma29.9PGR, ESR1
31thyroid cancer29.9PTEN, CDH1, PIK3CA, IFI27
32small cell carcinoma10.7
33cervicitis10.6
34neuroendocrine carcinoma10.5
35lymph node cancer10.5
36endometrial adenocarcinoma10.5
37vascular cancer10.4
38verrucous carcinoma10.4
39large cell carcinoma10.4
40peritonitis10.4
41vaginitis10.4
42in situ carcinoma10.3
43ovarian brenner tumor10.3
44lymphoepithelioma-like carcinoma10.3
45endometrial transitional cell carcinoma10.3
46obesity10.3
47ovarian endometriosis10.3
48ovarian endometrioid neoplasm10.3
49uterine inversion10.2
50bone carcinoma10.2

Graphical network of the top 20 diseases related to Endometrial Carcinoma:



Diseases related to endometrial carcinoma

Clinical Features for Endometrial Carcinoma

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Sources:
46OMIM
See all sources

Clinical features from OMIM:

608089

Drugs & Therapeutics for Endometrial Carcinoma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Endometrial Carcinoma

Drug clinical trials:

Search ClinicalTrials for Endometrial Carcinoma

Search NIH Clinical Center for Endometrial Carcinoma

Search CenterWatch for Endometrial Carcinoma

Genetic Tests for Endometrial Carcinoma

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22GTR
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Genetic tests related to Endometrial Carcinoma:

id Genetic test Affiliating Genes
1 Endometrial Carcinoma22

Anatomical Context for Endometrial Carcinoma

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32MalaCards, 14FMA
See all sources

MalaCards organs/tissues related to Endometrial Carcinoma:

32
Uterus, Lymph node, Breast, Endothelial, Ovary, Cervix, Colon, Testes, Bone, T cells, Testis, Pituitary, Tongue, Retina, Small intestine, Brain, Lung

FMA organs/tissues related to Endometrial Carcinoma:

14
The tissue lining the uterus

Animal Models for Endometrial Carcinoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Endometrial Carcinoma:

36 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538412.0MSH3, MLH1, ESR1, ESRRA, PTEN, KRAS
2MP:000200612.0MLH1, CDKN2A, CDH1, PGR, KRAS, PIK3CA
3MP:001076811.8ESR1, PTEN, MSH3, KRAS, PGR, KLK4
4MP:000538911.7CDH1, CDKN2A, CTNNB1, PIK3CA, MLH1, MLH3
5MP:000537811.7PTEN, KLK4, ESR1, CDH1, PIK3CA, CTNNB1
6MP:000538111.7PTEN, MLH1, ESR1, KRAS, HOXA10, CDH1
7MP:001077111.6CDH1, KRAS, PTEN, CDKN2A, MSH3, CTNNB1
8MP:000537911.5MLH1, PIK3CA, MLH3, CDKN2A, HOXA10, KRAS
9MP:000537611.5PGR, PIK3CA, KLK4, ESRRA, ESR1, MSH3
10MP:000538711.3PGR, CDH1, CDKN2A, PIK3CA, ESRRA, CTNNB1
11MP:000539010.9HOXA10, PGR, ESRRA
12MP:000536910.8CDKN2A, ESR1
13MP:000538010.8PGR
14MP:000537110.7HOXA10

Publications for Endometrial Carcinoma

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50PubMed
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Articles related to Endometrial Carcinoma:

(show top 50)    (show all 1342)
idTitleAuthorsYear
1
Changes of Th17/Tc17 and Th17/Treg cells in endometrial carcinoma. (24388919)
2014
2
Classification and regression tree (CART) analysis of endometrial carcinoma: Seeing the forest for the trees. (23774300)
2013
3
Increased expression of placental growth factor in high-grade endometrial carcinoma. (23232836)
2013
4
The correlation between expression of synuclein-gamma, glucose transporter-1, and survival outcomes in endometrioid endometrial carcinoma. (23781582)
2013
5
Sister Mary Joseph's nodule associated with rare endometrial squamous cell carcinoma. (22562383)
2012
6
Genetic alterations in SMAD4 and K-ras in Serbian patients with endometrial carcinoma. (22266936)
2012
7
Controversies in the management of endometrial carcinoma: an update. (22518164)
2012
8
What is the prognostic importance of molecular genetic factors in endometrial carcinoma?]. (22920169)
2012
9
Tumor budding and E-Cadherin expression in endometrial carcinoma: are they prognostic factors in endometrial cancer? (22198340)
2012
10
Case of atypical polypoid adenomyoma that possibly underwent a serial progression from endometrial hyperplasia to carcinoma. (21272150)
2011
11
Endometrial carcinoma and ovarian sex cord tumor with annular tubules in a patient with history of Peutz-Jeghers syndrome and multiple malignancies. (21941977)
2011
12
Diagnostic and prognostic impact of serum HE4 detection in endometrial carcinoma patients. (21468050)
2011
13
Vaginal and pelvic recurrences in stage I and II endometrial carcinoma--survival and prognostic factors. (21941962)
2011
14
Unexpected synchronous follicular lymphoma of paraaortic and pelvic lymph nodes in a patient with endometrial carcinoma: a case report. (21797129)
2011
15
Improved therapeutic effect of folate-decorated PLGA-PEG nanoparticles for endometrial carcinoma. (21641806)
2011
16
Phosphatase and tensin homolog gene inhibits the effect induced by gonadotropin-releasing hormone subtypes in human endometrial carcinoma cells. (20529558)
2010
17
Steroid receptors, HER2/neu and Ki-67, in endometrioid type of endometrial carcinoma: Correlation with conventional histomorphological features of prognosis. (19446313)
2010
18
HER-2/neu receptor gene status in endometrial carcinomas: a tissue microarray study. (20102407)
2010
19
Hysteroscopy and directed biopsy in the diagnosis of endometrial carcinoma. (22166624)
2010
20
Splenic metastasis from endometrial carcinoma: report of a case and review of literature. (19306010)
2009
21
Inhibitory effects of bark extracts from Ulmus laevis on endometrial carcinoma: an in-vitro study. (19337064)
2009
22
A single horn endometrial carcinoma of a uterus bicornis unicollis. (19809556)
2009
23
Stage IIIA endometrial carcinoma: outcome and predictors of survival. (19546765)
2009
24
Utility of liquid-based cytology in endometrial pathology: diagnosis of endometrial carcinoma. (19863617)
2009
25
CD10 immunostaining distinguishes atypical polypoid adenomyofibroma (atypical polypoid adenomyoma) from endometrial carcinoma invading the myometrium. (18619643)
2008
26
HIF-1A gene mutations associated with higher microvessel density in endometrial carcinomas. (18370960)
2008
27
Matrix metalloproteinase-2 (MMP-2): a major player in the progression of systemic malignancies besides endometrial serous carcinomas. (18763172)
2008
28
Endometrial carcinoma in a patient having 45,X Turner syndrome with gonadal mosaicism. (18840195)
2008
29
PTEN expression in endometrial biopsies as a marker of progression to endometrial carcinoma. (18632658)
2008
30
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. (17525745)
2007
31
Progesterone receptor isoforms as a prognostic marker in human endometrial carcinoma. (16999816)
2006
32
Preliminary study of membrane estrogen receptor expression in endometrial carcinoma cells]. (17083814)
2006
33
Expression of cellular FLICE/caspase-8 inhibitory protein is associated with malignant potential in endometrial carcinoma. (16014121)
2005
34
Expression of human telomerase reverse transcriptase and c-myc transcripts in endometrial carcinoma and its precursors]. (14989927)
2004
35
The coexistence of ERBB2, INT2, and CMYC oncogene amplifications and PTEN gene mutations in endometrial carcinoma. (14663583)
2004
36
Carcinoembryonic antigen (CEA)--a useful marker for the detection of recurrent disease in endometrial carcinoma patients. (12820355)
2003
37
Expression and significance of heat shock protein 70, 90 in endometrial carcinomas]. (15132902)
2003
38
CTNNB1 mutations and beta-catenin expression in endometrial carcinomas. (11957146)
2002
39
Longstanding survival without cancer progression in a patient affected by endometrial carcinoma treated primarily with leuprolide. (11487260)
2001
40
Beta- and gamma-catenin expression in endometrial carcinoma. Relationship with clinicopathological features and microsatellite instability. (11407474)
2001
41
Plasminogen activator inhibitor type 2: potential prognostic factor for endometrial carcinomas. (11949838)
2001
42
Protein kinase C alpha expression is inversely related to ER status in endometrial carcinoma: possible role in AP-1-mediated proliferation of ER-negative endometrial cancer. (11371124)
2001
43
Multidirectional differentiation of endometrial carcinoma with special reference to tumor aggressiveness evaluated by Ki-67 expression. (10053102)
1999
44
Causes and consequences of microsatellite instability in endometrial carcinoma. (9927063)
1999
45
Differential inhibitory effects on human endometrial carcinoma cell growth of luteinizing hormone-releasing hormone analogues. (9887238)
1998
46
Immunohistochemical study of cyclins D and E and cyclin dependent kinase (cdk) 2 and 4 in human endometrial carcinoma. (9673386)
1998
47
Immunohistochemical studies on matrix metalloproteinase-9 (MMP-9) and type-IV collagen in endometrial carcinoma. (9158300)
1997
48
Immunohistochemical localization of tenascin, estrogen receptor and transforming growth factor-beta 1 in human endometrial carcinoma. (8821888)
1996
49
Expression of epidermal growth factor receptors in human endometrial carcinoma. (8344761)
1993
50
Expression of transforming growth factor beta 1 by human endometrial carcinoma cell lines: inverse correlation with effects on growth rate and morphology. (2334934)
1990

Genetic Variations for Endometrial Carcinoma

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Endometrial Carcinoma:

62
id Symbol AA change Variation ID SNP ID
1PTENp.His123TyrVAR_026260

Expression for genes affiliated with Endometrial Carcinoma

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Endometrial Carcinoma

Search GEO for disease gene expression data for Endometrial Carcinoma.

Pathways for genes affiliated with Endometrial Carcinoma

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Sources:
29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 53Reactome, 51QIAGEN
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Pathways related to Endometrial Carcinoma according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
111.5CTNNB1, PIK3CA, MLH1, CDKN2A, CDH1, KRAS
2
Hide members
11.4PTEN, CTNNB1, PIK3CA, MLH1, CDH1, KRAS
3
Hide members
11.2CTNNB1, PIK3CA, CDH1, KRAS, PTEN, ESR1
411.1CTNNB1, CDH1, KRAS, PTEN, ESR1
5
Hide members
11.1PIK3CA, PGR, KRAS, PTEN, ESR1
611.1ESR1, PTEN, KRAS, PIK3CA, CTNNB1
7
Development Endothelin-1/EDNRA signaling
Hide members
11.1CTNNB1, PIK3CA, KRAS, PTEN, ESR1
811.0ESR1, KRAS, PIK3CA, CTNNB1
911.0PTEN, KRAS, CDKN2A, PIK3CA
1011.0KRAS, CDKN2A, PIK3CA, CTNNB1
11
Hide members
10.9MLH1, MLH3, MSH3
1210.9CTNNB1, CDH1, KRAS
13
Transcription Androgen Receptor nuclear signaling
Hide members
10.9CTNNB1, PIK3CA, PTEN
1410.9CTNNB1, PIK3CA, CDH1
15
Hide members
10.9CDH1, PIK3CA, CTNNB1
1610.9CDH1, PIK3CA, CTNNB1
1710.9CTNNB1, PIK3CA, CDH1
1810.9CTNNB1, CDKN2A, PTEN
19
Hide members
10.9ESR1, ESRRA, PGR
20
Hide members
10.9KRAS, CDKN2A, PIK3CA
2110.7CDH1, CTNNB1
2210.7CTNNB1, CDH1
2310.6MSH3
24
Hide members
10.6KRAS

Compounds for genes affiliated with Endometrial Carcinoma

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Sources:
44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 2BitterDB
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Compounds related to Endometrial Carcinoma according to GeneCards/GeneDecks:

(show top 50)    (show all 138)
idCompoundScoreTop Affiliating Genes
1progesterone44 59 28 11 2416.8MKI67, CDKN2A, CDH1, HOXA10, PGR, PTEN
2retinoic acid44 2413.7MKI67, CDKN2A, CDH1, MMP26, KRAS, PTEN
3testosterone44 59 11 2415.4PIK3CA, ESRRA, ESR1, PTEN, ARSH, PGR
4vegf4412.4MLH1, PIK3CA, CTNNB1, IFI27, MKI67, ESR1
5doxorubicin44 49 1114.3PIK3CA, ESR1, PTEN, MSH3, PGR, CDH1
6tyrosine4412.2PTEN, KRAS, ANG, HOXA10, CDH1, MKI67
7paclitaxel44 49 1114.2IFI27, CTNNB1, PIK3CA, PTEN, ESR1, MLH1
85fluorouracil4412.2CDKN2A, CDH1, PGR, KRAS, PTEN, ESR1
9tamoxifen44 49 28 1115.2ESRRA, PIK3CA, CTNNB1, MKI67, CDH1, PTEN
10paraffin4412.2ESR1, KRAS, PGR, CDH1, CDKN2A, MKI67
11cisplatin44 49 59 1115.2MSH3, CDH1, CDKN2A, IFI27, MKI67, MLH1
12genistein44 28 59 2 11 2417.0PTEN, ESRRA, ESR1, PGR, CDH1, IFI27
13arginine4412.0IFI27, PTEN, ARSH, CDH1, PIK3CA, MLH1
14steroid4411.9IFI27, ARSH, PIK3CA, MKI67, CDKN2A, HOXA10
15crcs4411.8CDH1, KRAS, PTEN, PIK3CA, CTNNB1, MLH1
16gefitinib44 49 1113.8KRAS, IFI27, CTNNB1, ESR1, PTEN, PIK3CA
175-aza-2deoxycytidine4411.8PTEN, ESR1, PGR, CDH1, CDKN2A, MLH1
18agar4411.8CDKN2A, PIK3CA, CDH1, PGR, PTEN, TDGF1P3
19fatty acid4411.7PTEN, MLH1, CTNNB1, IFI27, KRAS, ESRRA
20ly2940024411.7PTEN, PIK3CA, KRAS, CDH1, CTNNB1, IFI27
21trastuzumab44 49 1113.6IFI27, PTEN, PGR, PIK3CA, CTNNB1, ESR1
22estradiol44 11 2413.6ARSH, PTEN, MMP26, HOXA10, MKI67, PGR
23p0024411.6IFI27, CTNNB1, CDH1, KRAS, MKI67, MLH1
24mg 13244 5912.6IFI27, CTNNB1, CDH1, PTEN, ESR1, CDKN2A
25indole-3-carbinol4411.5IFI27, CTNNB1, CDH1, PTEN, ESR1
26diethylstilbestrol44 28 1113.5PGR, ESRRA, ESR1, PTEN, HOXA10
27vitamin d4411.5PTEN, ESR1, IFI27, CTNNB1, CDH1, KRAS
28irinotecan44 49 1113.5KRAS, CDH1, CDKN2A, MLH1, MKI67
29thymidylate4411.4CDH1, IFI27, MLH1, MKI67, CDKN2A
30docetaxel44 49 59 1114.4PIK3CA, CDKN2A, CDH1, ESR1, PGR
31sodium bisulfite4411.4CDKN2A, CDH1, MLH1, CTNNB1
32rapamycin4411.3PTEN, KRAS, CDH1, PIK3CA, CTNNB1, IFI27
33chi 24411.3MLH1, IFI27, MKI67, CDH1
34danazol44 11 2413.3ARSH, CDH1, PGR, ESR1
35o6-methylguanine4411.3MLH1, KRAS, CDKN2A, CDH1
36p000014411.3MLH1, CDH1, CDKN2A, MKI67
37steroidal4411.3PGR, IFI27, ESR1, ARSH
38bromodeoxyuridine4411.3CTNNB1, MLH1, MKI67, PIK3CA, IFI27
39sulindac44 1112.2IFI27, CTNNB1, MLH1, CDH1
40erlotinib44 49 1113.2CDH1, PIK3CA, KRAS, PTEN
41oxygen44 2412.2KRAS, IFI27, CDKN2A, MKI67, PTEN, ARSH
42estrogen4411.2HOXA10, ARSH
43quercetin44 59 11 2414.1PTEN, PIK3CA, CTNNB1, IFI27, ARSH
44folate4411.1MLH1, CDKN2A, CDH1, PGR, MKI67
4517beta-hydroxysteroid4411.0ARSH, MKI67, PGR, ESR1
46dihydrotestosterone44 28 11 2414.0ESR1, PGR, ARSH
47resveratrol44 59 11 2413.9PGR
48butyrate4410.9ARSH
49progestins4410.9ARSH, MKI67, ESR1, PGR
50cycloheximide4410.8HOXA10

GO Terms for genes affiliated with Endometrial Carcinoma

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16Gene Ontology
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Cellular components related to Endometrial Carcinoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00563411.7CTNNB1, MLH1, MLH3, ANG, MKI67, CDKN2A
2internal side of plasma membraneGO:00989810.9PTEN, CDH1, CTNNB1
3chiasmaGO:00571210.9MLH3, MLH1
4MutLbeta complexGO:03239010.8MLH3, MLH1
5mismatch repair complexGO:03230010.7MLH1, MLH3
6Schmidt-Lanterman incisureGO:04322010.7PTEN, CDH1
7catenin complexGO:01634210.6CDH1, CTNNB1

Biological processes related to Endometrial Carcinoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mismatch repairGO:00629810.9MSH3, MLH3, MLH1
2reciprocal meiotic recombinationGO:00713110.9MSH3, MLH3, MLH1
3positive regulation of nitric-oxide synthase activityGO:05100010.7ESR1, KRAS
4regulation of protein localization to cell surfaceGO:200000810.6CTNNB1, CDH1
5cellular response to indole-3-methanolGO:07168110.4CTNNB1, CDH1

Molecular functions related to Endometrial Carcinoma according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551512.6ESR1, CTNNB1, PIK3CA, MLH1, MLH3, ANG
2enzyme bindingGO:01989911.3CTNNB1, PGR, MSH3, PTEN, ESR1
3steroid bindingGO:00549611.0ESR1, ESRRA, PGR
4steroid hormone receptor activityGO:00370710.9PGR, ESRRA, ESR1
5guanine/thymine mispair bindingGO:03213710.8MSH3, MLH1
6single-stranded DNA bindingGO:00369710.8MLH1, MLH3, MSH3
7centromeric DNA bindingGO:01923710.7MSH3, MLH3
8mismatched DNA bindingGO:03098310.7MSH3, MLH3
9MutSalpha complex bindingGO:03240710.4MLH3, MLH1

Products for genes affiliated with Endometrial Carcinoma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Endometrial Carcinoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet