AAPC
MCID: ATT003
MIFTS: 52

Attenuated Familial Adenomatous Polyposis (AAPC) malady

Genetic diseases, Rare diseases categories

Summaries for Attenuated Familial Adenomatous Polyposis

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44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 Attenuated familial adenomatous polyposis (afap) is a cancer predisposition syndrome characterized by a significant risk to develop colon cancer. individuals with afap generally have fewer colon polyps (an average of 30) than in classic fap, and the polyps tend to occur more proximally in the colon. the average age of colon cancer diagnosis in affected individuals is 50 to 55 years, which is 10 to 15 years later than in those with classic fap, but earlier than when colon cancer occurs in the general population. in addition to colon polyps, findings may include upper gastrointestinal polyps and cancers; non-intestine related signs of fap (but chrpe and desmoid tumors are rare); and thyroid cancer. afap is caused by mutations in the apc gene and is inherited in an autosomal dominant manner. last updated: 12/16/2011

MalaCards: Attenuated Familial Adenomatous Polyposis, also known as attenuated fap, is related to familial adenomatous polyposis and muir-torre syndrome. An important gene associated with Attenuated Familial Adenomatous Polyposis is MUTYH (mutY homolog), and among its related pathways are Depurination and Busulfan Pathway, Pharmacodynamics. The compounds af/ap and 8-hydroxyguanine have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and pancreas, and related mouse phenotypes are muscle and liver/biliary system.

Wikipedia:66 Attenuated familial adenomatous polyposis is a form of familial adenomatous polyposis, a cancer... more...

Aliases & Classifications for Attenuated Familial Adenomatous Polyposis

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44NIH Rare Diseases, 21GeneTests, 23GTR, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

attenuated familial adenomatous polyposis 44
attenuated fap 44 21 23
attenuated adenomatous polyposis coli 44 23
familial adenomatous polyposis, attenuated 63
attenuated familial polyposis coli 44
mild form of fap 44
aapc 44
afap 44


Related Diseases for Attenuated Familial Adenomatous Polyposis

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18GeneCards, 19GeneDecks
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Diseases in the Attenuated Familial Adenomatous Polyposis family:

Axin2-Related Attenuated Familial Adenomatous Polyposis

Diseases related to Attenuated Familial Adenomatous Polyposis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1familial adenomatous polyposis31.4CTNNB1, OGG1, MSH2, MSH6, MUTYH, NUDT1
2muir-torre syndrome30.6MSH6, MSH2
3colon cancer30.3MSH6, APC, PTGS2, CTNNB1, MSH2
4adenocarcinoma30.2APEX1, MSH6, CTNNB1, PTGS2, MSH2, OGG1
5adenoma30.1PTGS2, NUDT1, APC, APEX1, MUTYH, CTNNB1
6colorectal cancer30.1OGG1, MSH2, CTNNB1, NUDT1, PTGS2, APEX1
7axin2-related attenuated familial adenomatous polyposis10.5
8duodenitis10.3
9adenomas, multiple colorectal10.3
10ectodermal dysplasia10.1
11juvenile polyposis syndrome10.1APC
12gastric cancer, somatic10.1MUTYH, APC
13turcot syndrome10.0MSH2, MSH6
14lynch syndrome10.0MSH6, MSH2
15gardner syndrome10.0APC, CTNNB1
16medulloblastoma10.0APC, CTNNB1
17hepatocellular adenoma10.0CTNNB1, APC
18barrett's esophagus10.0APC, PTGS2
19desmoid tumor10.0APC, CTNNB1
20colorectal cancer, somatic10.0APC, CTNNB1
21fibromatosis10.0CTNNB1, APC
22peutz-jeghers syndrome10.0APC, CTNNB1
23neurofibromatosis10.0MSH6, MSH2
24skin benign neoplasm10.0MSH6, MSH2
25familial colorectal cancer10.0MSH2, APC, MSH6
26xeroderma pigmentosum10.0APEX1, OGG1
27bladder carcinoma10.0APEX1, PTGS2, OGG1
28ulcerative colitis10.0APEX1, APC, MSH2
29adrenal adenoma10.0CTNNB1, APC
30hepatoblastoma10.0CTNNB1, APC
31lung cancer10.0OGG1, PTGS2, APEX1
32brain cancer10.0MSH2, APC, MSH6
33intestinal neoplasm10.0CTNNB1, PTGS2, APC
34cervical cancer10.0PTGS2, MSH2, APEX1
35gastric adenocarcinoma10.0PTGS2, APC, CTNNB1
36breast cancer10.0CTNNB1, APC, PTGS2
37rectal neoplasm10.0MUTYH, MSH2, MSH6, APC
38lung adenocarcinoma10.0PTGS2, CTNNB1, OGG1
39stomach cancer10.0CTNNB1, APC, PTGS2
40endometrial carcinoma9.9MSH2, MSH6, CTNNB1
41leukemia9.9APEX1, NUDT1, MSH2, OGG1
42hepatocellular carcinoma9.9OGG1, MUTYH, PTGS2, CTNNB1, APC
43pancreatic cancer9.9CTNNB1, PTGS2, APEX1, MSH2
44ovarian cancer9.9MSH6, CTNNB1, PTGS2, MSH2
45non-small cell lung carcinoma9.9APEX1, OGG1, PTGS2, APC, CTNNB1
46tongue squamous cell carcinoma9.8OGG1, APEX1, CTNNB1, PTGS2, APC, MSH2
47prostate cancer9.8APC, OGG1, CTNNB1, APEX1, MSH6, MSH2

Graphical network of the top 20 diseases related to Attenuated Familial Adenomatous Polyposis:



Diseases related to attenuated familial adenomatous polyposis

Symptoms for Attenuated Familial Adenomatous Polyposis

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Drugs & Therapeutics for Attenuated Familial Adenomatous Polyposis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Attenuated Familial Adenomatous Polyposis

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21GeneTests, 23GTR
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Genetic tests related to Attenuated Familial Adenomatous Polyposis:

id Genetic test Affiliating Genes
1 Attenuated Fap21 23
2 Adenomatous Polyposis Coli, Attenuated23

Anatomical Context for Attenuated Familial Adenomatous Polyposis

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34MalaCards
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MalaCards organs/tissues related to Attenuated Familial Adenomatous Polyposis:

34
Colon, Thyroid, Pancreas, Testes

Animal Models for Attenuated Familial Adenomatous Polyposis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Attenuated Familial Adenomatous Polyposis:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.3CTNNB1, APC, APEX1, PTGS2
2MP:00053708.0PTGS2, APEX1, APC, OGG1, CTNNB1
3MP:00053818.0PTGS2, APC, MSH2, CTNNB1
4MP:00028737.9CTNNB1, OGG1, APC, APEX1, PTGS2
5MP:00053867.7NUDT1, PTGS2, APC, OGG1, CTNNB1
6MP:00107717.7PTGS2, APC, MSH6, MSH2, CTNNB1
7MP:00053977.5NUDT1, PTGS2, APC, MSH2, OGG1, CTNNB1
8MP:00036317.2NUDT1, PTGS2, APC, MUTYH, MSH2, OGG1
9MP:00053877.1NUDT1, PTGS2, APEX1, APC, MSH2, OGG1
10MP:00107686.6PTGS2, APEX1, APC, MUTYH, MSH6, MSH2
11MP:00020066.3CTNNB1, NUDT1, PTGS2, APEX1, APC, MUTYH
12MP:00053846.3NUDT1, PTGS2, APEX1, APC, MUTYH, MSH6
13MP:00053766.3NUDT1, PTGS2, APEX1, APC, MUTYH, MSH6

Publications for Attenuated Familial Adenomatous Polyposis

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53PubMed
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Articles related to Attenuated Familial Adenomatous Polyposis:

(show all 40)
idTitleAuthorsYear
1
A Novel Germline Mutation in Exon 15 of the APC Gene in Attenuated Familial Adenomatous Polyposis: A Report of Two Cases. (23423322)
2013
2
Colon cancer prevention by detection of APC gene mutation in a family with attenuated familial adenomatous polyposis. (23244118)
2012
3
Hepatocelluar carcinoma associated with attenuated familial adenomatous polyposis: a case report and review of the literature. (21813337)
2012
4
First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. (21815886)
2011
5
Total gastrectomy and pancreaticoduodenectomy for gastric polyposis and duodenal ampullary adenoma in a patient with attenuated familial adenomatous polyposis. (21375864)
2011
6
Attenuated familial adenomatous polyposis: results from an international collaborative study. (20105204)
2010
7
A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype. (20033787)
2010
8
Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis. (21078199)
2010
9
Total gastrectomy for gastric dysplasia in a patient with attenuated familial adenomatous polyposis syndrome. (18640943)
2008
10
Nine-year follow-up of a patient with attenuated familial adenomatous polyposis treated with cyclo-oxygenase-2 inhibitors. (18609144)
2008
11
American founder mutation for attenuated familial adenomatous polyposis. (18063416)
2008
12
Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis. (18166348)
2008
13
Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. (18091433)
2007
14
A splice-site mutation in exon 4 of the APC gene in a family with attenuated familial adenomatous polyposis. (17410430)
2007
15
Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis. (18186383)
2007
16
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. (17489848)
2007
17
Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients. (17143620)
2007
18
Variation of a variation: case report of attenuated familial adenomatous polyposis. (18333267)
2006
19
Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation. (16461775)
2006
20
Gastric carcinogenesis after long-term observation of clinical course without any treatment in a patient with attenuated familial adenomatous polyposis. (16873575)
2006
21
Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation. (16253019)
2005
22
Stability of colon stem cell methylation after neo-adjuvant therapy in a patient with attenuated familial adenomatous polyposis. (15941485)
2005
23
Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. (16207212)
2005
24
Intraductal papillary mucinous neoplasm of the pancreas in a patient with attenuated familial adenomatous polyposis. (15623495)
2005
25
Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. (15300576)
2004
26
Attenuated familial adenomatous polyposis (AFAP). A review of the literature. (14574166)
2003
27
A predominant increase in the APC gene isoform with exon 9a in a case of attenuated familial adenomatous polyposis. (12519375)
2003
28
Attenuated familial adenomatous polyposis presenting as ampullary adenocarcinoma. (12740351)
2003
29
Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. (11786778)
2002
30
Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature. (12135043)
2002
31
High-magnification-chromoscopic-colonoscopy: a role for screening and treatment in attenuated familial adenomatous polyposis? (12164972)
2002
32
Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161: report of a case. (12394442)
2002
33
Fundic gland polyposis with high-grade dysplasia in a child with attenuated familial adenomatous polyposis and familial gastric cancer. (11321399)
2001
34
Attenuated familial adenomatous polyposis associated with advanced rectal cancer in a 16-year-old boy: report of a case. (11766074)
2001
35
Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis. (10924409)
2000
36
Giant fundic polyp complicating attenuated familial adenomatous polyposis. (10925993)
2000
37
Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q. (10494086)
1999
38
A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9. (9603437)
1998
39
Attenuated familial adenomatous polyposis due to a mutation in the 3' part of the APC gene. A clue for understanding the function of the APC protein. (8655134)
1996
40
Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP. (8625067)
1995

Variations for Attenuated Familial Adenomatous Polyposis

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Expression for genes affiliated with Attenuated Familial Adenomatous Polyposis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Attenuated Familial Adenomatous Polyposis

Search GEO for disease gene expression data for Attenuated Familial Adenomatous Polyposis.

Pathways for genes affiliated with Attenuated Familial Adenomatous Polyposis

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51PathCards, 56Reactome, 52PharmGKB, 39NCBI BioSystems Database, 61Thomson Reuters, 54QIAGEN, 31KEGG, 5Cell Signaling Technology
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Pathways related to Attenuated Familial Adenomatous Polyposis according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7OGG1, MUTYH
2
Show member pathways
Catalytic cycle of mammalian FMOs39
9.4MSH2, APEX1
39.3MSH6, MSH2
4
Show member pathways
9.3MSH2, MSH6
5
Show member pathways
9.3MSH2, MSH6
6
Show member pathways
9.3APEX1, MUTYH, OGG1
7
Show member pathways
9.3APEX1, MUTYH, OGG1
89.3CTNNB1, APC
99.3CTNNB1, APC
10
Show member pathways
9.3CTNNB1, APC
119.2APEX1, CTNNB1
129.1CTNNB1, PTGS2
13
Show member pathways
8.9OGG1, MSH2, MSH6
148.8PTGS2, APC, CTNNB1
158.8CTNNB1, APC, PTGS2
16
Show member pathways
8.6MSH2, MSH6, MUTYH, APEX1
178.5CTNNB1, MSH2, MSH6
18
Show member pathways
Signal transduction PTEN pathway61
8.1APC, MSH6, MSH2, CTNNB1
197.6PTGS2, APC, MSH6, MSH2, CTNNB1
207.6CTNNB1, MSH2, MSH6, APC, PTGS2

Compounds for genes affiliated with Attenuated Familial Adenomatous Polyposis

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46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB, 30IUPHAR, 62Tocris Bioscience
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Compounds related to Attenuated Familial Adenomatous Polyposis according to GeneCards/GeneDecks:

(show top 50)    (show all 62)
idCompoundScoreTop Affiliating Genes
1af/ap4610.2APC, MUTYH
28-hydroxyguanine4610.1MUTYH, OGG1
32-deoxyribonolactone4610.0APEX1, OGG1
4dihydrouracil46 2511.0OGG1, APEX1
5thymine glycol469.9APEX1, OGG1
68-oxo-dgtp46 2510.8NUDT1, MUTYH, OGG1
7piroxicam46 1210.8PTGS2, APC
8phosphodiester469.8APEX1, OGG1
9methylazoxymethanol acetate469.7APC, CTNNB1
101-hydroxyanthraquinone469.7APC, CTNNB1
11pyrimidine46 2510.7OGG1, MUTYH, APEX1
12samp469.7APC, CTNNB1
13thymine46 2510.7APEX1, APC, OGG1
141,2-dimethylhydrazine469.6APC, CTNNB1
15methylmethanesulfonate469.6OGG1, APC, APEX1
16purine46 2510.6NUDT1, APEX1, OGG1
17azoxymethane469.6APC, CTNNB1
18cytosine46 2510.6OGG1, APC, APEX1
192-amino-3-methylimidazo(4,5-f)quinoline469.6CTNNB1, APC
20sodium bisulfite469.5CTNNB1, APC
21mnng469.5APC, MSH2
22nimesulide46 1210.4CTNNB1, PTGS2
238-oxo-dg469.4NUDT1, APEX1, MUTYH, OGG1
24mononucleotide469.4MSH2, MSH6, APC
25benzene469.3OGG1, APEX1
26etodolac46 1210.3PTGS2, CTNNB1
27rofecoxib46 52 30 1212.2PTGS2, CTNNB1
28exisulind469.2CTNNB1, APC, PTGS2
29phip469.2CTNNB1, APC
30sulindac46 1210.2PTGS2, APC, CTNNB1
31celecoxib46 62 30 52 25 1214.1CTNNB1, APC, PTGS2
32mannitol46 1210.1CTNNB1, OGG1, APEX1
338-oxoguanine469.0OGG1, MUTYH, APC, APEX1, NUDT1
34curcumin469.0PTGS2, APC, CTNNB1
35guanine46 25 1211.0APC, MUTYH, OGG1, CTNNB1
36o6-methylguanine468.9MSH2, MSH6, APC, APEX1
37n-methyl-n-nitrosourea468.9CTNNB1, MSH2, MSH6
38dopamine46 30 25 1211.8CTNNB1, OGG1, APC, NUDT1
39aspirin46 52 30 2511.8CTNNB1, APC, PTGS2
40biotin46 25 1210.8CTNNB1, MSH2, MSH6
41oxygen46 259.8NUDT1, PTGS2, APEX1, MUTYH, OGG1
42oligonucleotide468.6CTNNB1, OGG1, APC, APEX1
43crcs468.6APC, MSH6, MSH2, CTNNB1
44h2o2468.5NUDT1, APEX1, MUTYH, OGG1, CTNNB1
45adenine46 25 1210.4NUDT1, APEX1, APC, MUTYH, MSH2, OGG1
46atp46 309.2CTNNB1, OGG1, MSH2, APEX1, NUDT1
47glutamate468.2CTNNB1, OGG1, MSH2, APEX1
48paraffin468.1APEX1, APC, MSH6, MSH2, CTNNB1
49serine467.7CTNNB1, OGG1, MSH2, MSH6, APC, APEX1
50cisplatin46 52 62 1210.7CTNNB1, MSH2, MSH6, MUTYH, APEX1, PTGS2

GO Terms for genes affiliated with Attenuated Familial Adenomatous Polyposis

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17Gene Ontology
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Cellular components related to Attenuated Familial Adenomatous Polyposis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MutSalpha complexGO:0323019.6MSH2, MSH6
2nuclear chromosomeGO:0002289.5MSH2, MSH6
3beta-catenin destruction complexGO:0308779.5APC, CTNNB1
4cell-cell adherens junctionGO:0059139.4CTNNB1, APC
5lateral plasma membraneGO:0163289.3APC, CTNNB1
6centrosomeGO:0058138.8CTNNB1, APC, APEX1
7mitochondrionGO:0057398.6NUDT1, APEX1, MUTYH, OGG1
8nucleoplasmGO:0056548.4APEX1, MUTYH, OGG1, CTNNB1
9cytoplasmGO:0057377.4CTNNB1, MSH6, APC, APEX1, PTGS2, NUDT1
10nucleusGO:0056346.9NUDT1, PTGS2, APEX1, APC, MUTYH, MSH6

Biological processes related to Attenuated Familial Adenomatous Polyposis according to GeneCards/GeneDecks:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1depurinationGO:04500710.1OGG1, MUTYH
2base-excision repair, AP site formationGO:00628510.0OGG1, MUTYH
3DNA catabolic process, endonucleolyticGO:0007379.8APEX1, OGG1
4nucleic acid phosphodiester bond hydrolysisGO:0903059.7OGG1, APEX1
5meiotic mismatch repairGO:0007109.7MSH2, MSH6
6maintenance of DNA repeat elementsGO:0435709.7MSH6, MSH2
7base-excision repairGO:0062849.7OGG1, MUTYH, APEX1
8somatic recombination of immunoglobulin gene segmentsGO:0164479.7MSH6, MSH2
9positive regulation of helicase activityGO:0510969.6MSH2, MSH6
10negative regulation of DNA recombinationGO:0459109.6MSH2, MSH6
11canonical Wnt signaling pathway involved in negative regulation of apoptotic processGO:0443369.6APC, CTNNB1
12somatic hypermutation of immunoglobulin genesGO:0164469.6MSH6, MSH2
13determination of adult lifespanGO:0083409.6MSH6, MSH2
14isotype switchingGO:0451909.6MSH6, MSH2
15response to oxidative stressGO:0069799.5NUDT1, PTGS2, OGG1
16proximal/distal pattern formationGO:0099549.5CTNNB1, APC
17T cell differentiation in thymusGO:0330779.4CTNNB1, APC
18thymus developmentGO:0485389.3APC, CTNNB1
19ATP catabolic processGO:0062009.2MSH2, MSH6, NUDT1
20cellular component disassembly involved in execution phase of apoptosisGO:0069219.2CTNNB1, APC
21cellular response to mechanical stimulusGO:0712609.1CTNNB1, PTGS2
22response to estradiolGO:0323559.1PTGS2, OGG1, CTNNB1
23mismatch repairGO:0062989.0MSH2, MSH6, MUTYH, NUDT1
24positive regulation of apoptotic processGO:0430658.8CTNNB1, APC, PTGS2
25response to drugGO:0424938.6PTGS2, APEX1, OGG1, CTNNB1
26DNA repairGO:0062818.5APEX1, MUTYH, MSH6, MSH2, OGG1
27negative regulation of cell proliferationGO:0082858.5CTNNB1, APC, PTGS2

Molecular functions related to Attenuated Familial Adenomatous Polyposis according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1endonuclease activityGO:0045199.7OGG1, APEX1
2single thymine insertion bindingGO:0321439.6MSH2, MSH6
3oxidized purine DNA bindingGO:0323579.6MSH6, MSH2
4damaged DNA bindingGO:0036849.6OGG1, APEX1
5single guanine insertion bindingGO:0321429.6MSH6, MSH2
6guanine/thymine mispair bindingGO:0321379.6MSH6, MSH2
7four-way junction DNA bindingGO:0004009.6MSH6, MSH2
8mismatched DNA bindingGO:0309839.5MSH2, MSH6
9cadherin bindingGO:0452969.5CTNNB1, APC
10ADP bindingGO:0435319.4MSH2, MSH6
11DNA-dependent ATPase activityGO:0080949.3MSH2, MSH6
12MutLalpha complex bindingGO:0324059.3MSH2, MSH6, MUTYH
13double-stranded DNA bindingGO:0036908.8CTNNB1, MSH2, MSH6
14enzyme bindingGO:0198998.7PTGS2, MSH2, CTNNB1
15protein kinase bindingGO:0199018.6APC, MSH2, CTNNB1
16protein bindingGO:0055156.6APEX1, APC, MUTYH, MSH6, MSH2, OGG1

Products for genes affiliated with Attenuated Familial Adenomatous Polyposis

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4CDC
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