AAPC
MCID: ATT003
MIFTS: 54

Attenuated Familial Adenomatous Polyposis (AAPC) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases categories
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Summaries for Attenuated Familial Adenomatous Polyposis

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NIH Rare Diseases:42 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 based summary: Attenuated Familial Adenomatous Polyposis, also known as attenuated fap, is related to muir-torre syndrome and familial adenomatous polyposis. 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:65 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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Attenuated Familial Adenomatous Polyposis, Aliases & Descriptions:

Name: Attenuated Familial Adenomatous Polyposis 42
Attenuated Fap 42 20 22
Attenuated Adenomatous Polyposis Coli 42 22
Familial Adenomatous Polyposis, Attenuated 62
Adenomatous Polyposis Coli, Attenuated 62
 
Attenuated Familial Polyposis Coli 42
Mild Form of Fap 42
Afap 42
Aapc 42


Classifications:



Related Diseases for Attenuated Familial Adenomatous Polyposis

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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 49)
idRelated DiseaseScoreTop Affiliating Genes
1muir-torre syndrome30.8MSH2, MSH6
2familial adenomatous polyposis30.2MUTYH, APC, PTGS2, NUDT1, MSH6, MSH2
3adenocarcinoma29.1PTGS2, APEX1, APC, MSH6, MSH2, OGG1
4colorectal cancer28.9NUDT1, PTGS2, APEX1, APC, MUTYH, MSH6
5adenoma28.7PTGS2, APEX1, APC, MUTYH, MSH6, MSH2
6axin2-related attenuated familial adenomatous polyposis10.5
7juvenile polyposis syndrome10.5APC
8gastric cancer10.4
9duodenitis10.4
10colon cancer10.4
11adenomas, multiple colorectal10.4
12gastric cancer, somatic10.3APC, MUTYH
13ectodermal dysplasia10.2
14turcot syndrome10.1MSH6, MSH2
15lynch syndrome10.1MSH6, MSH2
16medulloblastoma10.1APC, CTNNB1
17gardner syndrome10.1APC, CTNNB1
18hepatocellular adenoma10.1CTNNB1, APC
19barrett's esophagus10.1APC, PTGS2
20desmoid tumor10.1APC, CTNNB1
21colorectal cancer, somatic10.1APC, CTNNB1
22fibromatosis10.1APC, CTNNB1
23peutz-jeghers syndrome10.0APC, CTNNB1
24neurofibromatosis10.0MSH6, MSH2
25skin benign neoplasm10.0MSH2, MSH6
26familial colorectal cancer10.0APC, MSH6, MSH2
27xeroderma pigmentosum10.0OGG1, APEX1
28bladder carcinoma10.0OGG1, APEX1, PTGS2
29ulcerative colitis10.0MSH2, APC, APEX1
30adrenal cortical adenoma9.9APC, CTNNB1
31hepatoblastoma9.9CTNNB1, APC
32lung cancer9.9OGG1, APEX1, PTGS2
33brain cancer9.9MSH2, MSH6, APC
34intestinal neoplasm9.9PTGS2, APC, CTNNB1
35cervical cancer9.9PTGS2, APEX1, MSH2
36gastric adenocarcinoma9.9PTGS2, APC, CTNNB1
37breast cancer9.9PTGS2, APC, CTNNB1
38rectal neoplasm9.9APC, MUTYH, MSH6, MSH2
39lung adenocarcinoma9.8PTGS2, OGG1, CTNNB1
40stomach cancer9.8PTGS2, APC, CTNNB1
41endometrial carcinoma9.7MSH6, MSH2, CTNNB1
42leukemia9.6OGG1, MSH2, APEX1, NUDT1
43liver cancer9.6PTGS2, APC, MUTYH, OGG1, CTNNB1
44pancreatic cancer9.6PTGS2, APEX1, MSH2, CTNNB1
45ovarian cancer9.6PTGS2, MSH6, MSH2, CTNNB1
46non-small cell lung carcinoma9.5PTGS2, APEX1, APC, OGG1, CTNNB1
47colonic benign neoplasm9.4PTGS2, APC, MSH6, MSH2, CTNNB1
48tongue squamous cell carcinoma9.3PTGS2, APEX1, APC, MSH2, OGG1, CTNNB1
49prostate cancer9.0PTGS2, APEX1, APC, MSH6, MSH2, OGG1

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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Drug clinical trials:

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Search NIH Clinical Center for Attenuated Familial Adenomatous Polyposis

Genetic Tests for Attenuated Familial Adenomatous Polyposis

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Genetic tests related to Attenuated Familial Adenomatous Polyposis:

id Genetic test Affiliating Genes
1 Attenuated Fap20 22
2 Adenomatous Polyposis Coli, Attenuated22

Anatomical Context for Attenuated Familial Adenomatous Polyposis

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MalaCards organs/tissues related to Attenuated Familial Adenomatous Polyposis:

32
Colon, Thyroid, Pancreas, Testes

Animal Models for Attenuated Familial Adenomatous Polyposis or affiliated genes

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MGI Mouse Phenotypes related to Attenuated Familial Adenomatous Polyposis:

36 (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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Articles related to Attenuated Familial Adenomatous Polyposis:

(show all 42)
idTitleAuthorsYear
1
Identification of an APC Variant in a Patient with Clinical Attenuated Familial Adenomatous Polyposis. (24790607)
2014
2
Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer. (24549056)
2014
3
A Novel Germline Mutation in Exon 15 of the APC Gene in Attenuated Familial Adenomatous Polyposis: A Report of Two Cases. (23423322)
2013
4
Colon cancer prevention by detection of APC gene mutation in a family with attenuated familial adenomatous polyposis. (23244118)
2012
5
Hepatocelluar carcinoma associated with attenuated familial adenomatous polyposis: a case report and review of the literature. (21813337)
2012
6
First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. (21815886)
2011
7
Total gastrectomy and pancreaticoduodenectomy for gastric polyposis and duodenal ampullary adenoma in a patient with attenuated familial adenomatous polyposis. (21375864)
2011
8
Attenuated familial adenomatous polyposis: results from an international collaborative study. (20105204)
2010
9
A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype. (20033787)
2010
10
Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis. (21078199)
2010
11
Total gastrectomy for gastric dysplasia in a patient with attenuated familial adenomatous polyposis syndrome. (18640943)
2008
12
Nine-year follow-up of a patient with attenuated familial adenomatous polyposis treated with cyclo-oxygenase-2 inhibitors. (18609144)
2008
13
American founder mutation for attenuated familial adenomatous polyposis. (18063416)
2008
14
Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis. (18166348)
2008
15
Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. (18091433)
2007
16
A splice-site mutation in exon 4 of the APC gene in a family with attenuated familial adenomatous polyposis. (17410430)
2007
17
Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis. (18186383)
2007
18
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. (17489848)
2007
19
Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients. (17143620)
2007
20
Variation of a variation: case report of attenuated familial adenomatous polyposis. (18333267)
2006
21
Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation. (16461775)
2006
22
Gastric carcinogenesis after long-term observation of clinical course without any treatment in a patient with attenuated familial adenomatous polyposis. (16873575)
2006
23
Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation. (16253019)
2005
24
Stability of colon stem cell methylation after neo-adjuvant therapy in a patient with attenuated familial adenomatous polyposis. (15941485)
2005
25
Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. (16207212)
2005
26
Intraductal papillary mucinous neoplasm of the pancreas in a patient with attenuated familial adenomatous polyposis. (15623495)
2005
27
Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. (15300576)
2004
28
Attenuated familial adenomatous polyposis (AFAP). A review of the literature. (14574166)
2003
29
A predominant increase in the APC gene isoform with exon 9a in a case of attenuated familial adenomatous polyposis. (12519375)
2003
30
Attenuated familial adenomatous polyposis presenting as ampullary adenocarcinoma. (12740351)
2003
31
Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. (11786778)
2002
32
Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature. (12135043)
2002
33
High-magnification-chromoscopic-colonoscopy: a role for screening and treatment in attenuated familial adenomatous polyposis? (12164972)
2002
34
Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161: report of a case. (12394442)
2002
35
Fundic gland polyposis with high-grade dysplasia in a child with attenuated familial adenomatous polyposis and familial gastric cancer. (11321399)
2001
36
Attenuated familial adenomatous polyposis associated with advanced rectal cancer in a 16-year-old boy: report of a case. (11766074)
2001
37
Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis. (10924409)
2000
38
Giant fundic polyp complicating attenuated familial adenomatous polyposis. (10925993)
2000
39
Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q. (10494086)
1999
40
A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9. (9603437)
1998
41
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
42
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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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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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 FMOs37
9.4MSH2, APEX1
39.3MSH6, MSH2
4
Show member pathways
9.3MSH2, MSH6
5
Show member pathways
9.3MSH2, MSH6
6
Show member pathways
9.3OGG1, MUTYH, APEX1
7
Show member pathways
9.3MUTYH, APEX1, OGG1
89.3CTNNB1, APC
9
Show member pathways
9.3CTNNB1, APC
109.3APC, CTNNB1
119.2APEX1, CTNNB1
129.1PTGS2, CTNNB1
13
Show member pathways
8.9OGG1, MSH6, MSH2
148.8PTGS2, APC, CTNNB1
158.8APC, CTNNB1, PTGS2
16
Show member pathways
8.6MSH2, APEX1, MUTYH, MSH6
178.5MSH2, MSH6, CTNNB1
18
Show member pathways
Signal transduction PTEN pathway60
8.1MSH6, CTNNB1, MSH2, APC
197.6APC, MSH2, CTNNB1, PTGS2, MSH6
207.6MSH6, CTNNB1, PTGS2, APC, MSH2

Compounds for genes affiliated with Attenuated Familial Adenomatous Polyposis

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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/ap4410.2APC, MUTYH
28-hydroxyguanine4410.1MUTYH, OGG1
32-deoxyribonolactone4410.0APEX1, OGG1
4dihydrouracil44 2411.0OGG1, APEX1
5thymine glycol449.9APEX1, OGG1
68-oxo-dgtp44 2410.8NUDT1, MUTYH, OGG1
7piroxicam44 1110.8PTGS2, APC
8phosphodiester449.8APEX1, OGG1
9methylazoxymethanol acetate449.7APC, CTNNB1
101-hydroxyanthraquinone449.7APC, CTNNB1
11pyrimidine44 2410.7OGG1, MUTYH, APEX1
12samp449.7APC, CTNNB1
13thymine44 2410.7APEX1, APC, OGG1
141,2-dimethylhydrazine449.6APC, CTNNB1
15methylmethanesulfonate449.6OGG1, APC, APEX1
16purine44 2410.6NUDT1, APEX1, OGG1
17azoxymethane449.6APC, CTNNB1
18cytosine44 2410.6OGG1, APC, APEX1
192-amino-3-methylimidazo(4,5-f)quinoline449.6CTNNB1, APC
20sodium bisulfite449.5CTNNB1, APC
21mnng449.5APC, MSH2
22nimesulide44 1110.4CTNNB1, PTGS2
238-oxo-dg449.4NUDT1, APEX1, MUTYH, OGG1
24mononucleotide449.4MSH2, MSH6, APC
25benzene449.3OGG1, APEX1
26etodolac44 1110.3PTGS2, CTNNB1
27rofecoxib44 50 28 1112.2PTGS2, CTNNB1
28exisulind449.2CTNNB1, APC, PTGS2
29phip449.2CTNNB1, APC
30sulindac44 1110.2PTGS2, APC, CTNNB1
31celecoxib44 61 28 50 24 1114.1CTNNB1, APC, PTGS2
32mannitol44 1110.1CTNNB1, OGG1, APEX1
338-oxoguanine449.0OGG1, MUTYH, APC, APEX1, NUDT1
34curcumin449.0PTGS2, APC, CTNNB1
35guanine44 24 1111.0APC, MUTYH, OGG1, CTNNB1
36o6-methylguanine448.9MSH2, MSH6, APC, APEX1
37n-methyl-n-nitrosourea448.9CTNNB1, MSH2, MSH6
38dopamine44 28 24 1111.8CTNNB1, OGG1, APC, NUDT1
39aspirin44 50 28 2411.8CTNNB1, APC, PTGS2
40biotin44 24 1110.8CTNNB1, MSH2, MSH6
41oxygen44 249.8NUDT1, PTGS2, APEX1, MUTYH, OGG1
42oligonucleotide448.6CTNNB1, OGG1, APC, APEX1
43crcs448.6APC, MSH6, MSH2, CTNNB1
44h2o2448.5NUDT1, APEX1, MUTYH, OGG1, CTNNB1
45adenine44 24 1110.4NUDT1, APEX1, APC, MUTYH, MSH2, OGG1
46atp44 289.2CTNNB1, OGG1, MSH2, APEX1, NUDT1
47glutamate448.2CTNNB1, OGG1, MSH2, APEX1
48paraffin448.1APEX1, APC, MSH6, MSH2, CTNNB1
49serine447.7CTNNB1, OGG1, MSH2, MSH6, APC, APEX1
50cisplatin44 50 61 1110.7CTNNB1, MSH2, MSH6, MUTYH, APEX1, PTGS2

GO Terms for genes affiliated with Attenuated Familial Adenomatous Polyposis

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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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Sources for Attenuated Familial Adenomatous Polyposis

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet