MCID: CRD005
MIFTS: 47

Cardia Cancer malady

Cancer diseases, Gastrointestinal diseases categories

Summaries for Cardia Cancer

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MalaCards based summary: Cardia Cancer, also known as malignant neoplasm of cardia of stomach, is related to gastritis and stomach cancer. An important gene associated with Cardia Cancer is XRCC1 (X-ray repair complementing defective repair in Chinese hamster cells 1), and among its related pathways are 2 Naphthylamine and 2 Nitronaphtalene metabolism and Estrogen metabolism. The compounds s-phenylmercapturic acid and vinylchloride have been mentioned in the context of this disorder. Affiliated tissues include t cells, lymph node and spleen, and related mouse phenotypes are liver/biliary system and normal.

Aliases & Classifications for Cardia Cancer

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Cardia Cancer, Aliases & Descriptions:

Name: Cardia Cancer 9
Malignant Neoplasm of Cardia of Stomach 9
Malignant Neoplasm of Cardia 60
 
Gastric Cardia Carcinoma 60
Ca Cardia - Stomach 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:10548
ICD9CM27 151.0
ICD1025 C16.0

Related Diseases for Cardia Cancer

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Diseases related to Cardia Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 99)
idRelated DiseaseScoreTop Affiliating Genes
1gastritis30.7GSTT1, GAST
2stomach cancer30.5GAST, TP53
3esophageal cancer29.6CYP1A1, CDKN2A, MDM2, GSTP1, TP53
4adenocarcinoma28.0GSTM1, XRCC1, PARP1, TP53, CYP2E1, CYP1A1
5esophagitis10.8
6meningioma, familial10.5GSTT1
7adult acute lymphocytic leukemia10.4TYMS
8homocysteinemia10.4MTHFR
9giant cell glioblastoma10.4MDM2
10actinic keratosis10.4TP53
11asbestosis10.4GSTM1, GSTT1
12senile cataract10.4GSTT1, GSTM1
13megaloblastic anemia10.3MTRR, MTHFR
14mismatch repair cancer syndrome10.3GSTT1, GSTM1
15open-angle glaucoma10.3GSTM1, GSTT1
16vitamin b12 deficiency10.3GAST, MTHFR
17eclampsia10.3MTHFR
18acute myeloid leukemia, adult10.3GSTM1, CYP1A1, GSTT1
19leukoplakia10.3CYP1A1, GSTM1, GSTT1
20hellp syndrome10.3MTHFR, GSTP1
21gastrointestinal carcinoma10.3GAST, TYMS
22folic acid deficiency anemia10.3MTHFR, TYMS
23gastric cardia adenocarcinoma10.2
24dysphagia10.2
25brain cancer10.2MDM2, CD44
26endometriosis10.2CYP1A1, GSTT1, GSTM1
27bladder transitional cell carcinoma10.2GSTP1, TP53
28cleft lip10.2MTHFR, MTRR, GSTM1
29benign mesothelioma10.2TP53, TYMS
30neural tube defects10.2TYMS, MTHFR, MTRR
31gallbladder cancer10.2TYMS, TP53
32hyperhomocysteinemia10.2TYMS, MTHFR, MTRR
33tongue squamous cell carcinoma10.2GSTP1, CD44, CYP2E1
34alcoholic liver cirrhosis10.2CYP2E1, GSTM1
35breast cancer10.2TP53, MDM2
36non-suppurative otitis media10.1PARP1, CYP1A1, CYP2E1
37thyroid cancer10.1GSTM1, GSTT1, TP53
38pneumonia10.1TYMS, CYP1A1, GSTM1
39coronary artery disease10.1MTRR, GSTT1, CYP1A1, MTHFR
40lipoma10.1
41xeroderma pigmentosum, variant type10.1CYP1A1, GSTT1, XRCC1, TP53
42anaplastic oligodendroglioma10.1CDKN2A, MDM2
43li-fraumeni syndrome10.1TP53, CDKN2A
44oropharynx cancer10.1CDKN2A, TP53
45breast ductal carcinoma10.1CD44, TP53
46laryngeal carcinoma10.0GSTT1, CYP1A1, XRCC1, GSTM1, GSTP1
47homocystinuria10.0MTHFR, MTRR
48acute leukemia10.0GSTM1, GSTP1, GSTT1, MTHFR
49nasopharynx carcinoma10.0CDKN2A, TP53
50cervical intraepithelial neoplasia10.0XRCC1, MTHFR, CDKN2A

Graphical network of the top 20 diseases related to Cardia Cancer:



Diseases related to cardia cancer

Symptoms for Cardia Cancer

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Drugs & Therapeutics for Cardia Cancer

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Drug clinical trials:

Search ClinicalTrials for Cardia Cancer

Search NIH Clinical Center for Cardia Cancer

Genetic Tests for Cardia Cancer

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Anatomical Context for Cardia Cancer

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MalaCards organs/tissues related to Cardia Cancer:

31
T cells, Lymph node, Spleen, Heart

Animal Models for Cardia Cancer or affiliated genes

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Publications for Cardia Cancer

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Articles related to Cardia Cancer:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Pleural Metastasis as Initial Presentation of Occult Gastric Cardia Cancer: A Possible Role of PET-CT in Diagnosis. (25036578)
2014
2
Status and prognosis of lymph node metastasis in patients with cardia cancer - a systematic review. (24953457)
2014
3
A population-based case-control study on risk factors for gastric cardia cancer in rural areas of Linzhou. (23803050)
2013
4
Patrilineal background of esophageal cancer and gastric cardia cancer patients in a chaoshan high-risk area in china. (24339953)
2013
5
Combined splenectomy does not improve survival in radical total gastrectomy for advanced gastric cardia cancer. (22580669)
2012
6
Prevalence and clinicopathologic characteristics of gastric cardia cancer in South Korea. (22967119)
2012
7
Gastric cardia cancer: how much is it from fat? (22915196)
2012
8
Impact of concentration of oesophageal and gastric cardia cancer surgery on long-term population-based survival. (21509748)
2011
9
Is cardia cancer aetiologically different from distal stomach cancer? (21150780)
2011
10
A positive family history of esophageal/gastric cardia cancer with gastric cardia adenocarcinoma is associated with a younger age at onset and more likely with another synchronous esophageal/gastric cardia cancer in a Chinese high-risk area. (20603233)
2010
11
Human papillomavirus DNA and P16(INK4A) expression in concurrent esophageal and gastric cardia cancers. (21155014)
2010
12
A combined proteomics and metabolomics profiling of gastric cardia cancer reveals characteristic dysregulations in glucose metabolism. (20699381)
2010
13
Genetic polymorphisms of glutathione S-transferase genes GSTP1, GSTM1, and GSTT1 and risk of esophageal and gastric cardia cancers. (19618282)
2009
14
Nurse-led follow-up of patients after oesophageal or gastric cardia cancer surgery: a randomised trial. (19066612)
2009
15
En bloc resection of cardia cancer and lipoma with endoscopic submucosal dissection. (18657491)
2009
16
Critical role of Helicobacter pylori in the pattern of gastritis and carditis in residents of an area with high prevalence of gastric cardia cancer. (17492381)
2008
17
Combination of gastric atrophy, reflux symptoms and histological subtype indicates two distinct aetiologies of gastric cardia cancer. (17965056)
2008
18
New design esophageal stents for the palliation of dysphagia from esophageal or gastric cardia cancer: a randomized trial. (17900325)
2008
19
Trends in incidence of esophageal and gastric cardia cancer in high-risk areas in China. (18287862)
2008
20
Radiologist experience and CT examination quality determine metastasis detection in patients with esophageal or gastric cardia cancer. (18523774)
2008
21
Risk factors for malnutrition after oesophageal and cardia cancer surgery. (18844265)
2008
22
Subclassification of superficial cardia cancer in relation to the endoscopic esophagogastric junction. (19120911)
2008
23
Patient demographics and lifestyle factors influencing long-term survival of oesophageal cancer and gastric cardia cancer in a nationwide study in Sweden. (18434132)
2008
24
Effect of stent size on complications and recurrent dysphagia in patients with esophageal or gastric cardia cancer. (17383456)
2007
25
Ultrasound, computed tomography, or the combination for the detection of supraclavicular lymph nodes in patients with esophageal or gastric cardia cancer: a comparative study. (17455243)
2007
26
Detection of distant metastases in patients with oesophageal or gastric cardia cancer: a diagnostic decision analysis. (17848957)
2007
27
Adenosine diphosphate ribosyl transferase and x-ray repair cross-complementing 1 polymorphisms in gastric cardia cancer. (16890595)
2006
28
An antireflux stent versus conventional stents for palliation of distal esophageal or cardia cancer: a randomized clinical study. (16960663)
2006
29
Multimodal imaging of esophagus and cardia cancer before and after treatment. (16896560)
2006
30
Association of methylenetetrahydrofolate reductase and thymidylate synthase promoter polymorphisms with genetic susceptibility to esophageal and cardia cancer in a Chinese high-risk population. (16045580)
2005
31
Cytochrome p450 2E1 polymorphisms and the risk of gastric cardia cancer. (15793883)
2005
32
Influence of surgery-related factors on quality of life after esophageal or cardia cancer resection. (15951920)
2005
33
Prospective study of serum selenium concentrations and esophageal and gastric cardia cancer, heart disease, stroke, and total death. (14684401)
2004
34
Accuracy of linear-array EUS for preoperative staging of gastric cardia cancer. (15229425)
2004
35
Polymorphisms of XRCC1 and risk of esophageal and gastric cardia cancer. (15533591)
2004
36
Risk factors for the gastric cardia cancer: a case-control study in Fujian Province. (12532434)
2003
37
No changing trends in incidence of gastric cardia cancer in Korea. (12589087)
2003
38
Esophageal and gastric cardia cancer risk and folate- and vitamin B(12)-related polymorphisms in Linxian, China. (14652285)
2003
39
Inverse association between intake of cereal fiber and risk of gastric cardia cancer. (11665692)
2001
40
A favorable impact of preoperative FPLC chemotherapy on patients with gastric cardia cancer. (10671664)
2000
41
Dietary antioxidant intake and the risk of cardia cancer and noncardia cancer of the intestinal and diffuse types: a population-based case-control study in Sweden. (10861464)
2000
42
Helicobacter pylori infection and risk of cardia cancer and non-cardia gastric cancer. A nested case-control study. (10365894)
1999
43
Double-stapled esophagogastric anastomosis for resection of esophagogastric or cardia cancer: new application for an old technique. (10488828)
1999
44
RESPONSE: re: evaluating gastric cancer misclassification: a potential explanation for the rise in cardia cancer incidence (10491440)
1999
45
Quantitative fluorescence image analysis of DNA content and nuclear morphology on esophageal balloon cytology smears and subsequent development of esophageal and gastric cardia cancer in Linxian, China. (9456244)
1998
46
Interobserver agreement in endoscopic ultrasonography staging of esophageal and cardia cancer. (8903812)
1996
47
Surgery for esophageal and cardia cancer in Hungary: a nationwide retrospective five-year survey. (8726625)
1996
48
Diagnostic factors in gastric cardia cancer invading the esophagus. (8422621)
1993
49
Invisible cardia cancer metastasis to the diaphragm. (1405435)
1992
50
Evaluation of response to preoperative chemotherapy in esophageal and gastric cardia cancer using biphasic esophagrams and surgical-pathologic correlation. (3728374)
1986

Variations for Cardia Cancer

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Expression for genes affiliated with Cardia Cancer

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Search GEO for disease gene expression data for Cardia Cancer.

Pathways for genes affiliated with Cardia Cancer

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Pathways related to Cardia Cancer according to GeneCards Suite gene sharing:

(show all 39)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0CYP2E1, CYP1A1
2
Show member pathways
9.9GSTM1, CYP1A1
39.9GSTT1, GSTP1
4
Show member pathways
Vitamin B12 Metabolism36
9.9MTRR, MTHFR
59.9MTHFR, CYP2E1
69.7GSTP1, CYP2E1, CYP1A1
7
Show member pathways
9.7MDM2, CYP2E1, CYP1A1
8
Show member pathways
glutathione-mediated detoxification I36
glutathione redox reactions I36
glutathione redox reactions II36
4-hydroxy-2-nonenal detoxification36
Glutathione metabolism58
Glutathione metabolism36
9.6GSTM1, GSTP1, GSTT1
99.6GSTM1, GSTP1, GSTT1
10
Show member pathways
9.3MDM2, XRCC1, TP53
11
Show member pathways
9.3XRCC1, PARP4, PARP1
12
Show member pathways
One Carbon Metabolism36
dTMP de novo biosynthesis (mitochondrial)36
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate36
Trans-sulfuration and one carbon metabolism36
methionine salvage36
Methionine metabolism58
9.2GSTM1, MTRR, MTHFR, TYMS
139.2TYMS, TP53, MDM2
149.2MDM2, TP53, TYMS
15
Show member pathways
9.1TYMS, TP53, MTHFR
16
Show member pathways
9.1CYP1A1, CYP2E1, GSTM1, GSTP1, GSTT1
179.1GSTT1, GSTP1, GSTM1, CYP2E1, CYP1A1
18
Show member pathways
9.0CDKN2A, MDM2, TP53
199.0CDKN2A, MDM2, TP53
209.0CDKN2A, MDM2, TP53
21
Show member pathways
9.0CDKN2A, MDM2, TP53
22
Show member pathways
DNA damage response36
9.0CDKN2A, MDM2, TP53
239.0CDKN2A, MDM2, TP53
24
Show member pathways
Apoptosis Modulation and Signaling36
Apoptosis36
9.0TP53, MDM2, CDKN2A
259.0TP53, MDM2, CDKN2A
26
Show member pathways
Cell cycle36
9.0TP53, MDM2, CDKN2A
279.0TP53, MDM2, CDKN2A
28
Show member pathways
8.9CYP1A1, CYP2E1, MTRR, GSTM1, GSTP1, GSTT1
29
Show member pathways
Signaling Pathways in Glioblastoma36
8.7CDKN2A, MDM2, GSTP1, TP53
308.7CDKN2A, MDM2, GSTP1, TP53
31
Show member pathways
8.7TP53, GSTP1, MDM2, CDKN2A
328.7PARP1, MTHFR, MTRR, MDM2, CD44
33
Show member pathways
8.7TYMS, TP53, MDM2, CDKN2A
34
Show member pathways
8.7TYMS, TP53, MDM2, CDKN2A
358.6CD44, CDKN2A, MDM2, TP53
368.6TP53, MDM2, CDKN2A, CD44
37
Show member pathways
DNA damage response (only ATM dependent)36
Wnt Signaling Pathway and Pluripotency36
8.6TP53, MDM2, CDKN2A, CD44
38
Show member pathways
8.1TYMS, TP53, XRCC1, GSTP1, MDM2, CDKN2A
39
Show member pathways
7.8TYMS, CYP1A1, CYP2E1, MTHFR, MTRR, GSTM1

Compounds for genes affiliated with Cardia Cancer

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Compounds related to Cardia Cancer according to GeneCards Suite gene sharing:

(show top 50)    (show all 294)
idCompoundScoreTop Affiliating Genes
1s-phenylmercapturic acid439.8CYP2E1, GSTM1, GSTP1, GSTT1
2vinylchloride439.7XRCC1, GSTT1, GSTM1, CYP2E1
31,3-butadiene439.7GSTT1, CYP2E1, GSTM1, GSTP1
41-hydroxypyrene439.5CYP1A1, GSTT1, GSTP1, GSTM1, CYP2E1
5styrene439.5GSTT1, CYP2E1, GSTM1, GSTP1
6mspi439.5GSTT1, CYP1A1, CYP2E1, XRCC1, GSTM1
7acetone439.5GSTP1, CYP1A1, GSTM1, GSTT1, CYP2E1
8trichloroethylene439.4GSTT1, GSTP1, GSTM1, CYP2E1
9epoxide439.3CYP1A1, CYP2E1, GSTM1, GSTP1, XRCC1, GSTT1
10ifosfamide43 1210.2GSTM1, GSTP1, GSTT1, MDM2, TYMS
11isoniazid43 49 1211.1CDKN2A, GSTM1, CYP2E1, GSTT1, CD44
12betacarotene439.1CYP1A1, CYP2E1, XRCC1, MTHFR, GSTM1
13p003439.1GSTT1, MTRR, GSTM1, XRCC1, MDM2, CD44
14dichloromethane439.0GSTT1, GSTP1, CYP2E1, TYMS
15gsts439.0CYP1A1, CYP2E1, XRCC1, MTHFR, GSTM1, GSTP1
16fluorouracil49 129.9TYMS, TP53, XRCC1, GSTP1, MTHFR
17p002438.9MTHFR, XRCC1, GSTT1, MDM2, CD44, GSTM1
18bpde438.9CYP1A1, MDM2, TP53, GSTM1, GSTP1, GSTT1
19aflatoxin b143 249.8GSTT1, TP53, MDM2, CDKN2A, GSTM1
20bcnu438.7TP53, CDKN2A, GSTP1, PARP1, GSTT1
21benzo(a)pyrene438.6CYP1A1, TP53, XRCC1, MDM2, GSTT1, GSTP1
22valine438.5GSTT1, MDM2, GSTM1, MTHFR, CYP1A1, TYMS
23methotrexate49 43 1210.4MTRR, GSTP1, MTHFR, MDM2, GSTM1, TYMS
24vincristine43 49 1210.3CDKN2A, CD44, GSTP1, TP53, GSTM1, MDM2
25egcg438.3CYP1A1, CYP2E1, TP53, PARP1, GSTP1, CDKN2A
26adriamycin438.2GSTP1, CD44, CDKN2A, TYMS, TP53, MDM2
27ascorbic acid43 249.1CYP1A1, CYP2E1, XRCC1, GSTM1, MTHFR, GAST
28camptothecin43 59 1210.1TP53, GSTP1, MDM2, CDKN2A, PARP1, XRCC1
29docetaxel43 49 59 1211.1TYMS, CYP1A1, TP53, PARP1, GSTP1, CDKN2A
30oxaliplatin43 49 1210.0GSTT1, MTHFR, TP53, XRCC1, GSTP1, GSTM1
31resveratrol43 59 24 1211.0PARP1, CYP1A1, CYP2E1, TP53, GAST, MDM2
325fluorouracil437.9GSTM1, MDM2, TYMS, TP53, XRCC1, MTHFR
33irinotecan43 49 129.8TYMS, MDM2, GSTP1, MTHFR, XRCC1, PARP1
34etoposide43 49 59 1210.7CD44, GSTP1, GSTT1, TYMS, CYP2E1, MDM2
35thymidylate437.7TYMS, TP53, CDKN2A, MDM2, GSTP1, XRCC1
36actinomycin d437.7CD44, CDKN2A, MDM2, GSTP1, PARP1, CYP1A1
37h2o2437.6CDKN2A, XRCC1, GSTM1, GSTP1, MDM2, PARP1
38paclitaxel43 49 129.6MDM2, TYMS, CYP1A1, TP53, PARP1, GSTP1
39cyclophosphamide43 49 129.6CYP2E1, TP53, XRCC1, MTHFR, GSTM1, GSTP1
40folate437.5TYMS, XRCC1, MTHFR, MTRR, GSTP1, GSTM1
41doxorubicin43 49 129.4GSTM1, GSTP1, MDM2, TP53, TYMS, GSTT1
42arginine437.3CDKN2A, MDM2, GSTT1, XRCC1, GSTM1, CYP1A1
43cysteine437.3GSTP1, GSTM1, TYMS, MDM2, CDKN2A, MTHFR
44testosterone43 59 24 1210.3MTHFR, GSTP1, CD44, CDKN2A, MDM2, GAST
45carboplatin43 49 129.3XRCC1, MTHFR, GSTM1, GSTT1, MDM2, CD44
46creatinine437.1CDKN2A, GAST, GSTP1, CD44, GSTM1, MTHFR
47vegf436.8CDKN2A, GSTP1, MDM2, GAST, CD44, PARP1
48estrogen436.7GAST, CD44, CYP1A1, TP53, MTHFR, GSTM1
49serine436.2CYP1A1, TYMS, GSTP1, TP53, MTHFR, CD44
50cisplatin43 49 59 128.5CYP1A1, CYP2E1, TP53, PARP1, XRCC1, MTHFR

GO Terms for genes affiliated with Cardia Cancer

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Cellular components related to Cardia Cancer according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear bodyGO:00166049.1TP53, MDM2, CDKN2A
2mitochondrionGO:00057398.2TYMS, CYP1A1, CYP2E1, TP53, GSTP1, CDKN2A
3nucleoplasmGO:00056548.1TYMS, TP53, PARP1, XRCC1, MDM2, CDKN2A
4nucleolusGO:00057308.0TP53, PARP1, MTRR, MDM2, CDKN2A, TYMS
5cytosolGO:00058297.4CDKN2A, TYMS, TP53, MTHFR, MTRR, GSTM1
6cytoplasmGO:00057376.8TYMS, TP53, PARP4, MTRR, GSTM1, GSTP1
7nucleusGO:00056346.6TYMS, TP53, PARP1, PARP4, XRCC1, MTRR

Biological processes related to Cardia Cancer according to GeneCards Suite gene sharing:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1methionine biosynthetic processGO:000908610.2MTRR, MTHFR
2folic acid metabolic processGO:004665510.1MTRR, MTHFR
3response to vitamin AGO:003318910.1CYP1A1, TYMS
4drug metabolic processGO:001714410.0CYP2E1, CYP1A1
5negative regulation of DNA damage response, signal transduction by p53 class mediatorGO:004351810.0MDM2, CD44
6response to folic acidGO:005159310.0MTHFR, TYMS
7glutathione derivative biosynthetic processGO:0190168710.0GSTT1, GSTP1, GSTM1
8glutathione metabolic processGO:00067499.9GSTM1, GSTP1, GSTT1
9oxidation-reduction processGO:00551149.8CYP1A1, CYP2E1, MTRR, GSTT1
10protein destabilizationGO:00316489.7CDKN2A, MDM2
11response to hypoxiaGO:00016669.6CYP1A1, XRCC1, MTHFR
12response to antibioticGO:00466779.6MDM2, TP53, CYP1A1
13replicative senescenceGO:00903999.6TP53, CDKN2A
14xenobiotic metabolic processGO:00068059.5CYP1A1, CYP2E1, MTRR, GSTM1, GSTT1
15positive regulation of cell cycle arrestGO:00711589.5TP53, CDKN2A
16base-excision repairGO:00062849.5XRCC1, PARP1, TP53
17protein ADP-ribosylationGO:00064719.4PARP4, PARP1
18negative regulation of fibroblast proliferationGO:00481479.3GSTP1, TP53
19DNA repairGO:00062819.2TYMS, PARP1, PARP4, XRCC1
20negative regulation of apoptotic processGO:00430668.9CD44, MDM2, GSTP1, TP53
21response to drugGO:00424938.3MDM2, TYMS, CYP1A1, CYP2E1, PARP4, XRCC1
22small molecule metabolic processGO:00442818.1TYMS, CYP1A1, CYP2E1, MTHFR, MTRR, GSTM1

Molecular functions related to Cardia Cancer according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygenGO:00167099.9MTRR, CYP2E1
2glutathione transferase activityGO:00043649.7GSTT1, GSTP1, GSTM1
3NAD+ ADP-ribosyltransferase activityGO:00039509.5PARP4, PARP1
4iron ion bindingGO:00055069.5CYP1A1, CYP2E1, MTRR
5MDM2/MDM4 family protein bindingGO:00973719.3CDKN2A, TP53
6p53 bindingGO:00020399.1TP53, MDM2, CDKN2A
7enzyme bindingGO:00198997.9MDM2, CYP1A1, CYP2E1, TP53, PARP1, PARP4

Products for genes affiliated with Cardia Cancer

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Sources for Cardia Cancer

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet