FAP
MCID: FML011
MIFTS: 68

Familial Adenomatous Polyposis (FAP) malady

Categories: Rare diseases, Genetic diseases, Gastrointestinal diseases

Aliases & Classifications for Familial Adenomatous Polyposis

Aliases & Descriptions for Familial Adenomatous Polyposis:

Name: Familial Adenomatous Polyposis 12 71 50 24 25 52 14
Adenomatous Polyposis Coli 50 24 25 42 69
Fap 50 24 25
Familial Multiple Polyposis Syndrome 25 29
Adenomatous Polyposis of the Colon 12 50
Familial Intestinal Polyposis 50 69
Familial Adenomatous Polyposis of the Colon 50
Adenomatous Familial Polyposis Syndrome 25
Polyposis, Adenomatous Intestinal 50
Familial Polyposis of the Colon 50
Adenomatous Familial Polyposis 25
Familial Multiple Polyposis 50
Hereditary Polyposis Coli 50
Mutyh-Associate Polyposis 69
Myh-Associated Polyposis 25
Familial Polyposis Coli 24
Fpc 50

Classifications:



Summaries for Familial Adenomatous Polyposis

NIH Rare Diseases : 50 familial adenomatous polyposis (fap) is an inherited condition that causes cancer of the large intestine (colon) and rectum. people with the classic type of fap usually develop hundreds to thousands of noncancerous (benign) polyps (growths) in the colon as early as their teenage years. overtime, these polyps can become malignant (cancerous), leading to early-onset colorectal cancer at an average age of 39 years. other signs and symptoms may include dental abnormalities; desmoid tumors; and benign and malignant tumors of the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. some people have a milder form of the condition called attenuated familial adenomatous polyposis (afap) which is generally characterized by fewer colon polyps (an average of 30) and a delay in the development of colon cancer by 10-15 years. fap is caused by changes (mutations) in the apc gene and is inherited in an autosomal dominant manner. people with fap usually undergo regular screening until they develop 20 to 30 polyps and then a colectomy (removal of colon) is generally recommended. last updated: 11/26/2014

MalaCards based summary : Familial Adenomatous Polyposis, also known as adenomatous polyposis coli, is related to gastric cancer, somatic and mismatch repair cancer syndrome, and has symptoms including delayed eruption of teeth, multiple lipomas and colon cancer. An important gene associated with Familial Adenomatous Polyposis is APC (APC, WNT Signaling Pathway Regulator), and among its related pathways/superpathways are Glioma and Signaling by Wnt. The drugs Erythromycin and Celecoxib have been mentioned in the context of this disorder. Affiliated tissues include colon, small intestine and thyroid, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation

Disease Ontology : 12 An autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.

Genetics Home Reference : 25 Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.

Wikipedia : 71 Familial adenomatous polyposis (FAP) is an inherited condition in which numerous adenomatous polyps form... more...

Related Diseases for Familial Adenomatous Polyposis

Diseases in the Familial Adenomatous Polyposis family:

Familial Adenomatous Polyposis 3

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

(show top 50) (show all 196)
id Related Disease Score Top Affiliating Genes
1 gastric cancer, somatic 31.9 APC CDH1 MUTYH
2 mismatch repair cancer syndrome 31.7 MLH1 MSH2 MSH6 MUTYH
3 colorectal cancer 29.6 APC AXIN1 AXIN2 CCND1 CDH1 CTNNB1
4 attenuated familial adenomatous polyposis 12.5
5 familial adenomatous polyposis 3 12.4
6 adenomatous polyposis coli 12.1
7 familial adenomatous polyposis due to 5q22.2 microdeletion 12.1
8 axin2-related attenuated familial adenomatous polyposis 12.0
9 msh3-related attenuated familial adenomatous polyposis 12.0
10 mutyh-associated polyposis 11.9
11 adenomas, multiple colorectal 11.8
12 hepatoblastoma 11.4
13 gastric cancer 11.4
14 desmoid disease, hereditary 11.2
15 thyroid cancer, monmedullary, 1 11.0
16 duodenum cancer 11.0
17 familial stomach cancer 11.0
18 thyroid cancer, nonmedullary, 2 11.0
19 5q22 deletion syndrome 11.0
20 adenoma 10.7
21 duodenitis 10.6
22 desmoid tumor 10.6
23 thyroiditis 10.5
24 colitis 10.5
25 ulcerative colitis 10.4
26 adenocarcinoma 10.4
27 macular degeneration, early-onset 10.3 APC CTNNB1
28 colorectal adenoma 10.3
29 mitochondrial neurogastrointestinal encephalopathy disease 10.3 APC MUTYH TP53
30 infantile thalamic degeneration 10.3 APC MUTYH TP53
31 thyroid cancer 10.2
32 lynch syndrome 10.2
33 submucosal invasive colon adenocarcinoma 10.2 APC CTNNB1 TP53
34 linitis plastica 10.2 CDH1 TP53
35 reactive arthritis 10.2 CTNNB1 PTGS2 TP53
36 herpes simplex encephalitic 6 10.2 APC CTNNB1 TP53
37 pancreatitis 10.2
38 tamoxifen-related endometrial lesion 10.2 OGG1 PTGS2 TP53
39 gallbladder signet ring cell adenocarcinoma 10.2 CDH1 CTNNB1 TP53
40 fibrolamellar carcinoma 10.2 CTNNB1 MLH1 MSH2
41 large intestine adenoma 10.2 MLH1 MSH2 MSH6
42 benign fibrous mesothelioma 10.2 MLH1 MSH2 MSH6
43 nodular cutaneous amyloidosis 10.2 CDH1 CTNNB1 TP53
44 neuropathy, distal hereditary motor, type viib 10.2 MLH1 MSH2 MSH6
45 acute mountain sickness 10.1 MSH2 TP53
46 statin toxicity 10.1 CCND1 PTGS2 TP53
47 churg-strauss syndrome 10.1 MLH1 MSH2 MSH6
48 cauda equina neoplasm 10.1 MLH1 MSH2 MSH6
49 neurofibromatosis-noonan syndrome 10.1 MLH1 MSH2 MSH6
50 hemorrhagic proctocolitis 10.1 CCND1 CTNNB1 MYC

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



Diseases related to Familial Adenomatous Polyposis

Symptoms & Phenotypes for Familial Adenomatous Polyposis

Human phenotypes related to Familial Adenomatous Polyposis:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 delayed eruption of teeth 32 HP:0000684
2 multiple lipomas 32 HP:0001012
3 colon cancer 32 HP:0003003
4 multiple gastric polyps 32 HP:0004394
5 duodenal polyposis 32 HP:0004783
6 adenomatous colonic polyposis 32 HP:0005227
7 irregular hyperpigmentation 32 HP:0007400
8 fibroma 32 HP:0010614
9 odontoma 32 HP:0011068
10 increased number of teeth 32 HP:0011069
11 neoplasm of the central nervous system 32 HP:0100006

UMLS symptoms related to Familial Adenomatous Polyposis:


abdominal pain, diarrhea

GenomeRNAi Phenotypes related to Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.5 MLH1 MSH2 MSH6 MUTYH NUDT1 OGG1
2 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 MSH2 APC AXIN1 AXIN2 MCC

MGI Mouse Phenotypes related to Familial Adenomatous Polyposis:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.49 APC APC2 AXIN1 AXIN2 CCND1 CDH1
2 behavior/neurological MP:0005386 10.32 APC APC2 AXIN1 CCND1 CTNNB1 MLH1
3 homeostasis/metabolism MP:0005376 10.32 HNF4A MLH1 MSH2 MSH6 MUTYH MYC
4 digestive/alimentary MP:0005381 10.24 APC AXIN1 CCND1 CDH1 CTNNB1 MLH1
5 growth/size/body region MP:0005378 10.24 APC APC2 AXIN1 AXIN2 CCND1 CDH1
6 mortality/aging MP:0010768 10.24 AXIN2 CCND1 CDH1 CTNNB1 HNF4A MLH1
7 cardiovascular system MP:0005385 10.22 APC AXIN1 AXIN2 CCND1 CDH1 CTNNB1
8 embryo MP:0005380 10.18 APC AXIN1 AXIN2 CDH1 CTNNB1 HNF4A
9 endocrine/exocrine gland MP:0005379 10.16 APC AXIN2 CCND1 CDH1 CTNNB1 MLH1
10 immune system MP:0005387 10.16 MSH2 MYC NUDT1 OGG1 PTGS2 TP53
11 integument MP:0010771 10.13 APC CCND1 CDH1 CTNNB1 MLH1 MSH2
12 neoplasm MP:0002006 10.13 PTGS2 TP53 APC CCND1 CDH1 CTNNB1
13 nervous system MP:0003631 10.1 APC APC2 AXIN1 AXIN2 CCND1 CTNNB1
14 craniofacial MP:0005382 10.09 APC AXIN1 AXIN2 CCND1 CTNNB1 MYC
15 liver/biliary system MP:0005370 9.95 CTNNB1 HNF4A MYC OGG1 PTGS2 TP53
16 normal MP:0002873 9.73 PTGS2 TP53 APC AXIN1 AXIN2 CCND1
17 no phenotypic analysis MP:0003012 9.7 APC AXIN2 CDH1 CTNNB1 MYC PTGS2
18 reproductive system MP:0005389 9.36 APC APC2 AXIN1 AXIN2 CCND1 CDH1

Drugs & Therapeutics for Familial Adenomatous Polyposis

Drugs for Familial Adenomatous Polyposis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 71)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Vet_approved Phase 4 114-07-8 12560
2
Celecoxib Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 169590-42-5 2662
3 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
4 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Erythromycin Estolate Phase 4
6 Erythromycin Ethylsuccinate Phase 4
7 Erythromycin stearate Phase 4
8 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
9 Analgesics Phase 4,Phase 2,Phase 3,Phase 1
10 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3,Phase 1
11 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
12 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2,Phase 3,Phase 1
13 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1
14 Cyclooxygenase 2 Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
15 Cyclooxygenase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
16 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
17
Ursodeoxycholic acid Approved, Investigational Phase 2, Phase 3 128-13-2 31401
18
Sulindac Approved Phase 3,Phase 2 38194-50-2 5352 1548887
19
Loperamide Approved Phase 3 53179-11-6 3955
20 Cholagogues and Choleretics Phase 2, Phase 3
21 Antidiarrheals Phase 3
22 Antiparasitic Agents Phase 3,Phase 2
23 Antiprotozoal Agents Phase 3,Phase 2
24 Protective Agents Phase 2, Phase 3
25 Cola Nutraceutical Phase 2, Phase 3, Phase 1
26 Omega 3 Fatty Acid Nutraceutical Phase 2, Phase 3
27
Ornithine Nutraceutical Phase 3,Phase 2 3184-13-2 6262 389
28
Metformin Approved Phase 2 657-24-9 14219 4091
29
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
30
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
31
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
32
Inulin Approved, Nutraceutical Phase 2 9005-80-5 24763
33
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 11103-57-4, 68-26-8 445354
34 Hypoglycemic Agents Phase 2
35
Curcumin Phase 2 458-37-7 969516
36 Turmeric extract Phase 2
37
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
38 Protein Kinase Inhibitors Phase 2
39 Retinol palmitate Phase 2
40 Antibiotics, Antitubercular Phase 2,Phase 1
41 Antifungal Agents Phase 2,Phase 1
42 Immunosuppressive Agents Phase 2,Phase 1
43 Antioxidants Phase 2
44 Turmeric Nutraceutical Phase 2
45 retinol Nutraceutical Phase 2
46
Bevacizumab Approved, Investigational Phase 1 216974-75-3
47
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
48 Angiogenesis Inhibitors Phase 1
49 Angiogenesis Modulating Agents Phase 1
50 Endothelial Growth Factors Phase 1

Interventional clinical trials:

(show top 50) (show all 68)
id Name Status NCT ID Phase
1 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4
2 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors' Adjusted Version Not yet recruiting NCT02354560 Phase 4
3 Observational Familial Adenomatous Polyposis Registry Study In Patients Receiving Celecoxib Compared to Control Patients Terminated NCT00151476 Phase 4
4 A Study of Rofecoxib in Familial Adenomatous Polyposis (FAP) Terminated NCT00140894 Phase 4
5 Ursodeoxycholic Acid in the Treatment of Duodenal Adenomas in Familial Adenomatous Polyposis (FAP) Patients Unknown status NCT00134758 Phase 2, Phase 3
6 Chemoprevention Trial in Familial Adenomatous Polyposis (FAP) Coli Using EPA Completed NCT00510692 Phase 2, Phase 3
7 Prevention of Progression of Duodenal Adenomas in Patients With Familial Adenomatous Polyposis Completed NCT00808743 Phase 2, Phase 3
8 Celecoxib to Prevent Colorectal Cancer in Patients Who Have Undergone Surgery to Remove Polyps Completed NCT00005094 Phase 3
9 Clinical Approaches to Ileal Pouch Dysfunction Completed NCT00293553 Phase 3
10 Use of Post Operative Loperamide in Colorectal Patients After Diverting Ileostomies Recruiting NCT02263365 Phase 3
11 Trial of Eflornithine Plus Sulindac in Patients With Familial Adenomatous Polyposis (FAP) Active, not recruiting NCT01483144 Phase 3
12 Trial In Pediatric Patients With Familial Adenomatous Polyposis (FAP) Terminated NCT00585312 Phase 3
13 Coxib-inhibition of Duodenal Polyp Growth in FAP Terminated NCT00844727 Phase 2, Phase 3
14 A Trial of Low Dose Sulindac Combined With Eflornithine in Patients With Familial Adenomatous Polyposis (FAP) Withdrawn NCT01245816 Phase 3
15 Exisulind in Preventing Polyps in Patients With Familial Adenomatous Polyposis Withdrawn NCT00026468 Phase 2, Phase 3
16 The Chemopreventive Effect of Metformin in Patients With Familial Adenomatous Polyposis: Double Blinded Randomized Controlled Study Unknown status NCT01725490 Phase 2
17 Influence of Sulindac and Probiotics on the Development of Pouch Adenomas in Patients With Familial Adenomatous Polyposis Unknown status NCT00319007 Phase 2
18 Curcumin in Treating Patients With Familial Adenomatous Polyposis Completed NCT00641147 Phase 2
19 A Clinical Trial of COX and EGFR Inhibition in Familial Polyposis Patients Completed NCT01187901 Phase 2
20 Sirolimus and Familial Adenomatous Polyposis (FAP) Recruiting NCT03095703 Phase 2
21 A Pilot Study Evaluating the Use of mTor Inhibitor Sirolimus in Children and Young Adults With Desmoid-Type Fibromatosis Recruiting NCT01265030 Phase 1, Phase 2
22 Molecular Targeting of 15-Lipoxygenase-1 (15-LOX-1) for Apoptosis Induction in Human Colorectal Cancers Active, not recruiting NCT00503035 Phase 2
23 Erlotinib Hydrochloride in Reducing Duodenal Polyp Burden in Patients With Familial Adenomatous Polyposis at Risk of Developing Colon Cancer Not yet recruiting NCT02961374 Phase 2
24 Turmeric Supplementation on Polyp Number and Size in Patients With Familial Adenomatous Polyposis. Not yet recruiting NCT03061591 Phase 2
25 Celecoxib With or Without Eflornithine in Preventing Colorectal Cancer in Patients With Familial Adenomatous Polyposis Terminated NCT00033371 Phase 2
26 Use of Curcumin in the Lower Gastrointestinal Tract in Familial Adenomatous Polyposis Patients Withdrawn NCT00248053 Phase 2
27 Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CW Completed NCT02113202 Phase 1
28 Lyophilized Black Raspberries in Adults With Familial Adenomatous Polyposis (FAP) Completed NCT00770991 Phase 1
29 Celecoxib in Preventing Colorectal Cancer in Young Patients With a Genetic Predisposition for Familial Adenomatous Polyposis Completed NCT00685568 Phase 1
30 Study of Biochemical Markers to Determine the Acetylsalicylic Acid Chemopreventive Effect Through Antiplatelet Action Completed NCT02060396 Phase 1
31 A Pilot Open-Label Crossover Bioavailability Study of Celecoxib in Healthy Volunteers Completed NCT00813241 Phase 1
32 Adenoma Detection Rate:NBI, AFI, Chromoscopic or Standard Endoscopy Unknown status NCT00253812
33 Chemoprevention of Gastric Cancer by Intervention With Helicobacter Pylori and Cyclooxygenase Pathway Unknown status NCT00498134
34 Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal Cancer Unknown status NCT00675636
35 Is Diverting Ileostomy Necessary in Stapled Ileoanal Pouch? Completed NCT01173250
36 Dual Focus NBI and pCLE in FAP Related Duodenal Adenoma Completed NCT02162173
37 A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome Completed NCT01286662
38 Alcohol Intake, Alcohol Metabolizing Enzymes Gene Polymorphisms and the Risk of Colorectal Cancer Completed NCT03155542
39 Endoscopic Papillectomy for Early Ampullary Tumors: Long-term Results of the First Large Multicenter Prospective Study Completed NCT01764503
40 Genetic Analysis of Hereditary Prostate Cancer Completed NCT00001469
41 Oligogenic Determinism of Colorectal Cancer Completed NCT01057953
42 Single Incision Laparoscopic Surgery in Treating Patients With Colorectal Disease Completed NCT01656746
43 Non-Surgical Management of Attenuated and Deleterious (Classical) Familial Adenomatous Polyposis: A Long-term Surveillance Program Recruiting NCT02747862
44 Small Bowel Endoscopic Evaluation in Familial Adenomatous Polyposis (FAP) Recruiting NCT02656134
45 Registry With Information About Colitis Ulcerosa and Familial Adenomatous Polyposis Patients Recruiting NCT01604564
46 Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes Recruiting NCT02198092
47 18F-FES PET/CT in Imaging Patients With Desmoid Tumors Recruiting NCT02374931
48 French Digestive Polyposis Cohorte Family Adenomatous Polyposis With APC and MYH Gene Mutations , Cowden's Disease With PTEN Gene Mutation, Peutz Jeghers Disease With STK 11 Gene Mutation ,juvénil Polyposis With SMAD 4 Gene Mutation , Serrated and Hyperpl Recruiting NCT01987518
49 Prevalence of Small Bowel Polyps in Patients With Sporadic Duodenal Adenomas Recruiting NCT02470416
50 Familial Cancer Registry and DNA Bank Recruiting NCT02083224

Search NIH Clinical Center for Familial Adenomatous Polyposis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: adenomatous polyposis coli

Genetic Tests for Familial Adenomatous Polyposis

Genetic tests related to Familial Adenomatous Polyposis:

id Genetic test Affiliating Genes
1 Familial Multiple Polyposis Syndrome 29
2 Familial Adenomatous Polyposis 24 APC

Anatomical Context for Familial Adenomatous Polyposis

MalaCards organs/tissues related to Familial Adenomatous Polyposis:

39
Colon, Small Intestine, Thyroid, Bone, Skin, Testes, Pancreas

Publications for Familial Adenomatous Polyposis

Articles related to Familial Adenomatous Polyposis:

(show top 50) (show all 861)
id Title Authors Year
1
Detecting APC Gene Mutations in Familial Adenomatous Polyposis (FAP). ( 28075483 )
2017
2
Does routine colonoscopy help diagnose familial adenomatous polyposis in patients presenting with desmoid tumors but no gastrointestinal symptoms? ( 27844202 )
2017
3
Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis. ( 26663236 )
2016
4
Protein-losing enteropathy in a patient with familial adenomatous polyposis and advanced colon cancer. ( 27170298 )
2016
5
Clinicopathological features of familial adenomatous polyposis in Korean patients. ( 27158207 )
2016
6
Familial Adenomatous Polyposis Manifesting as Lactococcus Endocarditis: A Case Report and Review of the Association of Lactococcus with Underlying Gastrointestinal Disease. ( 27818810 )
2016
7
Colorectal cancer prevention of familial adenomatous polyposis. ( 27383102 )
2016
8
Chemoprevention of familial adenomatous polyposis. ( 27083160 )
2016
9
Endoscopic Submucosal Dissection for the Complete Resection of the Rectal Remnant Mucosa in a Patient With Familial Adenomatous Polyposis. ( 27144195 )
2016
10
Association between the age and the development of colorectal cancer in patients with familial adenomatous polyposis: a multi-institutional study. ( 27506752 )
2016
11
Childbirth after surgery for familial adenomatous polyposis in Japan. ( 27357052 )
2016
12
A role for the vitamin D pathway in non-intestinal lesions in genetic and carcinogen models of colorectal cancer and in familial adenomatous polyposis. ( 27768599 )
2016
13
Feasibility of Cold Snare Polypectomy for Multiple Duodenal Adenomas in Patients with Familial Adenomatous Polyposis: A Pilot Study. ( 27126203 )
2016
14
Can supplementation of phytoestrogens/insoluble fibers help the management of duodenal polyps in familial adenomatous polyposis? ( 27207660 )
2016
15
Sulindac and Erlotinib for Familial Adenomatous Polyposis--Reply. ( 27483082 )
2016
16
Familial Adenomatous Polyposis. ( 27617147 )
2016
17
Pancreas-sparing total duodenectomy for Spigelman stage IV duodenal polyposis associated with familial adenomatous polyposis: experience of 10 cases at a single institution. ( 27655252 )
2016
18
Familial adenomatous polyposis in pediatrics: natural history, emerging surveillance and management protocols, chemopreventive strategies, and areas of ongoing debate. ( 27056662 )
2016
19
Cap-assisted forward-viewing endoscopy to visualize the ampulla of Vater and the duodenum in patients with familial adenomatous polyposis. ( 27760435 )
2016
20
Giant Adrenal Cavernous Hemangioma in a Patient with Familial Adenomatous Polyposis. ( 27777714 )
2016
21
A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis. ( 27391059 )
2016
22
Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis. ( 27217144 )
2016
23
Sulindac and Erlotinib for Familial Adenomatous Polyposis. ( 27483077 )
2016
24
Macroscopically visible flat dysplasia in the fundus of 3 patients with familial adenomatous polyposis. ( 27060715 )
2016
25
Desmoid Tumours in Familial Adenomatous Polyposis: Review of 17 Patients from a Portuguese Tertiary Center. ( 27891388 )
2016
26
Comment on Ueno et al.: Prevalence of laparoscopic surgical treatment and its clinical outcomes in patients with familial adenomatous polyposis in Japan. ( 27000846 )
2016
27
Familial Adenomatous Polyposis; Succesful Use of Sirolimus. ( 27356835 )
2016
28
Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis. ( 27000756 )
2016
29
Neonatal Gardner Fibroma Leads to Detection of Familial Adenomatous Polyposis: Two Case Reports. ( 28018803 )
2016
30
Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis. ( 26625971 )
2016
31
Two subtypes of colorectal tumor with distinct molecular features in familial adenomatous polyposis. ( 27563825 )
2016
32
Sulindac plus erlotinib for familial adenomatous polyposis. ( 27051970 )
2016
33
Therapeutic approaches for patients with coexisting familial adenomatous polyposis and colorectal cancer. ( 27418167 )
2016
34
Risk Factors for the Development of Desmoid Tumor After Colectomy in Patients with Familial Adenomatous Polyposis: Multicenter Retrospective Cohort Study in Japan. ( 27387679 )
2016
35
Effect of Sulindac and Erlotinib vs Placebo on Duodenal Neoplasia in Familial Adenomatous Polyposis: A Randomized Clinical Trial. ( 27002448 )
2016
36
Aldosterone producing adenoma with a somatic KCNJ5 mutation revealing APC dependent Familial Adenomatous Polyposis. ( 27648962 )
2016
37
Cold snare polypectomy effectively reduces polyp burden in familial adenomatous polyposis. ( 27092331 )
2016
38
Oral perfluorooctane sulfonate (PFOS) lessens tumor development in the APC(min) mouse model of spontaneous familial adenomatous polyposis. ( 27927180 )
2016
39
Familial adenomatous polyposis small bowel surveillance: could indicators for video-capsule endoscopy be ascertained? ( 27404265 )
2016
40
Epithelial turnover in duodenal familial adenomatous polyposis: A possible role for estrogen receptors? ( 27003997 )
2016
41
Current status of prophylactic surgical treatment for familial adenomatous polyposis in Japan. ( 27770209 )
2016
42
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. ( 27087319 )
2016
43
Assessing barriers to a rational chemoprevention trial design in young patients with familial adenomatous polyposis. ( 27128580 )
2016
44
Adenocarcinoma Arising From an End Ileostomy in a Patient With Familial Adenomatous Polyposis. ( 27890852 )
2016
45
Ovarian Microcystic Stromal Tumor: A Rare Clinical Manifestation of Familial Adenomatous Polyposis. ( 27015438 )
2016
46
Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis. ( 27683109 )
2016
47
Feasibility of laparoscopic total proctocolectomy with ileal pouch-anal anastomosis and total colectomy with ileorectal anastomosis for familial adenomatous polyposis: results of a nationwide multicenter study. ( 27095110 )
2016
48
Management strategies in Lynch syndrome and familial adenomatous polyposis: a national healthcare survey in Japan. ( 27870147 )
2016
49
Comparison of Non-Ampullary Duodenal Adenomas in Patients with Familial Adenomatous Polyposis (FAP) versus Patients with Sporadic Adenomas. ( 27530072 )
2016
50
Differences in neuropsychological and behavioral parameters and brain structure in patients with familial adenomatous polyposis: a sibling-paired study. ( 27777639 )
2016

Variations for Familial Adenomatous Polyposis

ClinVar genetic disease variations for Familial Adenomatous Polyposis:

6 (show all 45)
id Gene Variation Type Significance SNP ID Assembly Location
1 MUTYH NM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys) single nucleotide variant Pathogenic rs34612342 GRCh37 Chromosome 1, 45798475: 45798475
2 MUTYH NM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic rs36053993 GRCh37 Chromosome 1, 45797228: 45797228
3 MUTYH NM_001128425.1(MUTYH): c.1461delC (p.Thr488Profs) deletion Pathogenic rs587776618 GRCh37 Chromosome 1, 45796869: 45796869
4 MUTYH NM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter) single nucleotide variant Pathogenic rs121908380 GRCh37 Chromosome 1, 45799121: 45799121
5 MUTYH NM_001128425.1(MUTYH): c.1438G> T (p.Glu480Ter) single nucleotide variant Pathogenic rs121908381 GRCh37 Chromosome 1, 45796892: 45796892
6 MUTYH NM_001128425.1(MUTYH): c.348+33_*210delinsTA indel Pathogenic GRCh38 Chromosome 1, 45329096: 45333380
7 MUTYH NM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp) single nucleotide variant Pathogenic rs200844166 GRCh37 Chromosome 1, 45796912: 45796912
8 MUTYH NM_001128425.1(MUTYH): c.733C> T (p.Arg245Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200495564 GRCh37 Chromosome 1, 45798118: 45798118
9 MUTYH NM_001128425.1(MUTYH): c.1227_1228dupGG (p.Glu410Glyfs) duplication Pathogenic rs587780078 GRCh37 Chromosome 1, 45797187: 45797188
10 MUTYH NM_001128425.1(MUTYH): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs587780082 GRCh37 Chromosome 1, 45797507: 45797507
11 MUTYH NM_001128425.1(MUTYH): c.1437_1439delGGA (p.Glu480del) deletion Pathogenic rs587778541 GRCh37 Chromosome 1, 45796891: 45796893
12 MUTYH NM_001128425.1(MUTYH): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs587780088 GRCh37 Chromosome 1, 45800165: 45800165
13 MUTYH NM_001128425.1(MUTYH): c.1147delC (p.Ala385Profs) deletion Pathogenic rs587778536 GRCh38 Chromosome 1, 45331700: 45331700
14 MUTYH NM_001128425.1(MUTYH): c.933+3A> C single nucleotide variant Pathogenic rs587780751 GRCh37 Chromosome 1, 45797835: 45797835
15 MUTYH NM_001128425.1(MUTYH): c.289C> T (p.Arg97Ter) single nucleotide variant Pathogenic rs138775799 GRCh37 Chromosome 1, 45799144: 45799144
16 MUTYH NM_001128425.1(MUTYH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic/Likely pathogenic rs140342925 GRCh37 Chromosome 1, 45798117: 45798117
17 MUTYH NM_001128425.1(MUTYH): c.1187-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587781628 GRCh38 Chromosome 1, 45331558: 45331558
18 MUTYH NM_001128425.1(MUTYH): c.1214C> T (p.Pro405Leu) single nucleotide variant Pathogenic rs529008617 GRCh37 Chromosome 1, 45797201: 45797201
19 MUTYH NM_001128425.1(MUTYH): c.1171C> T (p.Gln391Ter) single nucleotide variant Pathogenic rs587783057 GRCh38 Chromosome 1, 45331676: 45331676
20 MUTYH NM_001128425.1(MUTYH): c.857G> A (p.Gly286Glu) single nucleotide variant Pathogenic/Likely pathogenic rs730881833 GRCh38 Chromosome 1, 45332242: 45332242
21 MUTYH NM_001128425.1(MUTYH): c.545G> A (p.Arg182His) single nucleotide variant Pathogenic rs143353451 GRCh38 Chromosome 1, 45332794: 45332794
22 MUTYH NM_001128425.1(MUTYH): c.884C> T (p.Pro295Leu) single nucleotide variant Pathogenic/Likely pathogenic rs374950566 GRCh37 Chromosome 1, 45797887: 45797887
23 MUTYH NM_001128425.1(MUTYH): c.799C> T (p.Gln267Ter) single nucleotide variant Pathogenic rs786203115 GRCh37 Chromosome 1, 45797972: 45797972
24 MUTYH NM_001128425.1(MUTYH): c.721C> T (p.Arg241Trp) single nucleotide variant Pathogenic/Likely pathogenic rs34126013 GRCh37 Chromosome 1, 45798130: 45798130
25 MUTYH NM_001128425.1(MUTYH): c.544C> T (p.Arg182Cys) single nucleotide variant Pathogenic/Likely pathogenic rs747993448 GRCh37 Chromosome 1, 45798467: 45798467
26 MUTYH NM_001128425.1(MUTYH): c.389-1G> A single nucleotide variant Pathogenic rs372267274 GRCh37 Chromosome 1, 45798843: 45798843
27 MUTYH NM_001128425.1(MUTYH): c.325C> T (p.Arg109Trp) single nucleotide variant Pathogenic/Likely pathogenic rs765123255 GRCh37 Chromosome 1, 45799108: 45799108
28 MUTYH NM_001128425.1(MUTYH): c.309G> A (p.Trp103Ter) single nucleotide variant Pathogenic rs748170941 GRCh37 Chromosome 1, 45799124: 45799124
29 MUTYH NM_001128425.1(MUTYH): c.349-?_*(1_?)del deletion Pathogenic GRCh37 Chromosome 1, 45794977: 45798996
30 MUTYH NM_001128425.1(MUTYH): c.1474A> T (p.Lys492Ter) single nucleotide variant Pathogenic rs863224502 GRCh37 Chromosome 1, 45796856: 45796856
31 MUTYH NM_001128425.1(MUTYH): c.1214_1224delCGTCCGTGACC (p.Pro405Leufs) deletion Pathogenic/Likely pathogenic rs863224501 GRCh37 Chromosome 1, 45797191: 45797201
32 MUTYH NM_001128425.1(MUTYH): c.1477G> T (p.Val493Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587782228 GRCh37 Chromosome 1, 45796229: 45796229
33 MUTYH NM_001128425.1(MUTYH): c.467G> A (p.Trp156Ter) single nucleotide variant Pathogenic/Likely pathogenic rs762307622 GRCh37 Chromosome 1, 45798627: 45798627
34 MUTYH NM_001128425.1(MUTYH): c.453_458dupATGGAT (p.Trp152_Met153insIleTrp) duplication Pathogenic/Likely pathogenic rs876660190 GRCh37 Chromosome 1, 45798773: 45798778
35 MUTYH NM_001128425.1(MUTYH): c.389-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs372267274 GRCh37 Chromosome 1, 45798843: 45798843
36 MUTYH NM_001128425.1(MUTYH): c.1435G> T (p.Glu479Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376790729 GRCh37 Chromosome 1, 45796895: 45796895
37 MUTYH NM_001128425.1(MUTYH): c.333dupA (p.Pro112Thrfs) duplication Pathogenic rs878854189 GRCh37 Chromosome 1, 45799100: 45799100
38 MUTYH NM_001128425.1(MUTYH): c.1047G> A (p.Trp349Ter) single nucleotide variant Pathogenic rs1060501324 GRCh38 Chromosome 1, 45331800: 45331800
39 MUTYH NM_001128425.1(MUTYH): c.393_406dupGGTCTCAGAGGTCA (p.Met136Argfs) duplication Pathogenic GRCh38 Chromosome 1, 45333153: 45333166
40 MUTYH NM_001128425.1(MUTYH): c.586G> T (p.Glu196Ter) single nucleotide variant Pathogenic rs745921592 GRCh38 Chromosome 1, 45332678: 45332678
41 MUTYH NM_001128425.1(MUTYH): c.1267G> T (p.Glu423Ter) single nucleotide variant Pathogenic rs1060501321 GRCh38 Chromosome 1, 45331476: 45331476
42 MUTYH NM_001128425.1(MUTYH): c.1240C> T (p.Gln414Ter) single nucleotide variant Pathogenic rs766420907 GRCh38 Chromosome 1, 45331503: 45331503
43 MUTYH NM_001128425.1(MUTYH): c.504+19_504+31delTAGGGGAAATAGG deletion Pathogenic rs781222233 GRCh38 Chromosome 1, 45332887: 45332899
44 MUTYH NM_001128425.1(MUTYH): c.1281G> A (p.Trp427Ter) single nucleotide variant Pathogenic rs1060501325 GRCh38 Chromosome 1, 45331462: 45331462
45 MUTYH NM_001128425.1(MUTYH): c.102delA (p.Arg36Glyfs) deletion Pathogenic rs1060501336 GRCh38 Chromosome 1, 45334446: 45334446

Expression for Familial Adenomatous Polyposis

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

Pathways for Familial Adenomatous Polyposis

Pathways related to Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

(show top 50) (show all 63)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 APC APC2 AXIN1 AXIN2 CCND1 CDH1
2
Show member pathways
12.89 APC AXIN1 AXIN2 CTNNB1 MYC
3
Show member pathways
12.84 APC AXIN1 AXIN2 MYC TP53
4
Show member pathways
12.81 APC CDH1 CTNNB1 PTGS2 TP53
5
Show member pathways
12.71 CCND1 MSH2 MSH6 MYC OGG1 TP53
6
Show member pathways
12.6 APC APC2 AXIN1 AXIN2 CCND1 CTNNB1
7
Show member pathways
12.59 CCND1 CDH1 CTNNB1 MYC TP53
8
Show member pathways
12.58 APC AXIN1 AXIN2 CCND1 CTNNB1 HNF4A
9 12.57 CCND1 MLH1 MSH2 MSH6 MUTYH NUDT1
10 12.57 APC APC2 AXIN1 AXIN2 CCND1 CDH1
11 12.56 APC APC2 CCND1 MYC PTGS2 TP53
12
Show member pathways
12.5 APC AXIN1 AXIN2 TP53
13 12.48 APC APC2 CCND1 CTNNB1 MYC TP53
14
Show member pathways
12.47 APC AXIN1 CTNNB1 HNF4A
15
Show member pathways
12.42 APC APC2 AXIN1 AXIN2 CTNNB1 TP53
16 12.41 APC CCND1 CDH1 MYC TP53
17 12.37 APC AXIN1 CCND1 CDH1 CTNNB1 HNF4A
18 12.32 CCND1 CTNNB1 MYC TP53
19 12.27 APC AXIN1 AXIN2 CTNNB1
20
Show member pathways
12.24 APC AXIN1 AXIN2 CTNNB1
21 12.17 APC APC2 AXIN1 AXIN2 CTNNB1 MYC
22 12.15 APC AXIN1 CDH1 CTNNB1
23 12.14 CCND1 CDH1 CTNNB1 MSH2 MSH6 MYC
24 12.12 CCND1 MLH1 MSH2 TP53
25 12.11 AXIN1 CCND1 MYC TP53
26 12.11 APC MLH1 MSH2 TP53
27
Show member pathways
12.09 APC APC2 AXIN1 AXIN2 CCND1 CDH1
28 12.07 APC AXIN1 CDH1 CTNNB1
29 12.07 APC AXIN1 CCND1 CTNNB1 MYC TP53
30 12.05 CCND1 MYC PTGS2 TP53
31 12.05 APC APC2 AXIN1 AXIN2 CCND1 CDH1
32 12.03 CCND1 CTNNB1 MYC TP53
33 12.03 APC AXIN1 CCND1 CTNNB1 MYC TP53
34 12.02 CCND1 MYC PTGS2 TP53
35 11.98 AXIN1 AXIN2 CDH1 CTNNB1 MYC
36
Show member pathways
11.9 MLH1 MSH2 MSH6
37 11.9 CCND1 MSH6 MYC TP53
38 11.87 CCND1 MYC PTGS2 TP53
39 11.83 APC AXIN2 CCND1 CDH1 CTNNB1 MYC
40
Show member pathways
11.82 MSH2 MSH6 TP53
41 11.8 CCND1 CDH1 MYC TP53
42 11.8 MLH1 MSH2 MSH6 TP53
43 11.79 CCND1 MYC PTGS2
44 11.76 APC AXIN1 CTNNB1 MYC
45 11.62 APC CCND1 TP53
46 11.61 CCND1 MYC PTGS2 TP53
47 11.58 CCND1 MYC TP53
48 11.58 APC AXIN1 CCND1 CTNNB1 MYC
49 11.58 APC AXIN2 CCND1 CDH1 CTNNB1 MLH1
50 11.57 APC AXIN1 AXIN2 CCND1 CTNNB1 MYC

GO Terms for Familial Adenomatous Polyposis

Cellular components related to Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 protein complex GO:0043234 9.89 CTNNB1 MYC OGG1 PTGS2 TP53
2 lamellipodium GO:0030027 9.71 APC CDH1 CTNNB1 MCC
3 cell-cell adherens junction GO:0005913 9.63 APC CDH1 CTNNB1
4 lateral plasma membrane GO:0016328 9.56 APC AXIN1 CDH1 CTNNB1
5 apical junction complex GO:0043296 9.51 CDH1 CTNNB1
6 Wnt signalosome GO:1990909 9.48 APC CTNNB1
7 flotillin complex GO:0016600 9.43 CDH1 CTNNB1
8 MutSalpha complex GO:0032301 9.37 MSH2 MSH6
9 beta-catenin destruction complex GO:0030877 9.26 APC AXIN1 AXIN2 CTNNB1
10 catenin complex GO:0016342 8.92 APC APC2 CDH1 CTNNB1
11 cytoplasm GO:0005737 10.34 APC APC2 AXIN1 AXIN2 CCND1 CDH1
12 nucleoplasm GO:0005654 10.1 APC CCND1 CTNNB1 HNF4A MCC MLH1
13 nucleus GO:0005634 10.06 APC AXIN1 AXIN2 CCND1 CTNNB1 HNF4A

Biological processes related to Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

(show all 42)
id Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.99 MLH1 MSH2 MSH6 MUTYH NUDT1 OGG1
2 protein deubiquitination GO:0016579 9.98 APC AXIN1 AXIN2 MYC TP53
3 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.97 APC AXIN1 CTNNB1 TP53
4 response to drug GO:0042493 9.93 CCND1 CDH1 CTNNB1 MYC OGG1 PTGS2
5 cell cycle arrest GO:0007050 9.92 APC MSH2 MYC TP53
6 negative regulation of canonical Wnt signaling pathway GO:0090090 9.88 APC APC2 AXIN1 AXIN2 MCC
7 cellular response to hypoxia GO:0071456 9.86 MYC PTGS2 TP53
8 response to organic substance GO:0010033 9.86 CCND1 CDH1 PTGS2
9 cellular response to UV GO:0034644 9.82 MYC PTGS2 TP53
10 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.81 MLH1 MSH2 MSH6
11 beta-catenin-TCF complex assembly GO:1904837 9.81 AXIN2 CTNNB1 MYC
12 positive regulation of cell death GO:0010942 9.8 APC AXIN2 PTGS2
13 base-excision repair GO:0006284 9.78 MUTYH OGG1 TP53
14 response to estradiol GO:0032355 9.77 CCND1 CTNNB1 MYC OGG1 PTGS2
15 beta-catenin destruction complex disassembly GO:1904886 9.74 APC AXIN1 CTNNB1
16 response to X-ray GO:0010165 9.73 CCND1 MSH2 TP53
17 negative regulation of Wnt signaling pathway GO:0030178 9.73 APC APC2 AXIN1 CCND1
18 isotype switching GO:0045190 9.71 MLH1 MSH2 MSH6
19 mismatch repair GO:0006298 9.71 MLH1 MSH2 MSH6 MUTYH
20 somatic hypermutation of immunoglobulin genes GO:0016446 9.7 MLH1 MSH2 MSH6
21 ovulation GO:0030728 9.68 MYC PTGS2
22 entry of bacterium into host cell GO:0035635 9.68 CDH1 CTNNB1
23 negative regulation of catenin import into nucleus GO:0035414 9.68 APC2 AXIN2
24 mitotic G1 DNA damage checkpoint GO:0031571 9.67 CCND1 TP53
25 positive regulation of isotype switching to IgG isotypes GO:0048304 9.67 MLH1 MSH2
26 determination of adult lifespan GO:0008340 9.67 MSH2 MSH6 TP53
27 negative regulation of DNA recombination GO:0045910 9.66 MSH2 MSH6
28 positive regulation of helicase activity GO:0051096 9.66 MSH2 MSH6
29 positive regulation of isotype switching to IgA isotypes GO:0048298 9.65 MLH1 MSH2
30 beta-catenin destruction complex assembly GO:1904885 9.65 APC AXIN1
31 cellular response to indole-3-methanol GO:0071681 9.65 CDH1 CTNNB1
32 re-entry into mitotic cell cycle GO:0000320 9.62 CCND1 MYC
33 depurination GO:0045007 9.6 MUTYH OGG1
34 regulation of centromeric sister chromatid cohesion GO:0070602 9.59 AXIN2 CTNNB1
35 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.58 MLH1 MSH2
36 canonical Wnt signaling pathway GO:0060070 9.55 APC AXIN1 CCND1 CTNNB1 MYC
37 maintenance of DNA repeat elements GO:0043570 9.5 AXIN2 MSH2 MSH6
38 Wnt signaling pathway GO:0016055 9.5 APC APC2 AXIN1 AXIN2 CCND1 CTNNB1
39 somatic recombination of immunoglobulin gene segments GO:0016447 9.43 MLH1 MSH2 MSH6
40 cellular response to DNA damage stimulus GO:0006974 9.28 APC CCND1 MLH1 MSH2 MSH6 MUTYH
41 positive regulation of transcription, DNA-templated GO:0045893 10.09 AXIN1 CDH1 CTNNB1 HNF4A MYC TP53
42 negative regulation of cell proliferation GO:0008285 10.02 APC AXIN2 CTNNB1 HNF4A PTGS2 TP53

Molecular functions related to Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.95 APC AXIN1 CCND1 CTNNB1 MSH2 TP53
2 double-stranded DNA binding GO:0003690 9.81 CTNNB1 MSH2 MSH6 MYC
3 damaged DNA binding GO:0003684 9.76 MSH2 MSH6 OGG1 TP53
4 enzyme binding GO:0019899 9.7 AXIN1 AXIN2 CCND1 CTNNB1 MSH2 PTGS2
5 mismatched DNA binding GO:0030983 9.61 MLH1 MSH2 MSH6
6 I-SMAD binding GO:0070411 9.58 AXIN1 AXIN2 CTNNB1
7 DNA N-glycosylase activity GO:0019104 9.56 MUTYH OGG1
8 gamma-catenin binding GO:0045295 9.55 APC CDH1
9 MutSalpha complex binding GO:0032407 9.54 MLH1 MUTYH
10 oxidized purine DNA binding GO:0032357 9.54 MSH2 MSH6 OGG1
11 single guanine insertion binding GO:0032142 9.52 MSH2 MSH6
12 single thymine insertion binding GO:0032143 9.49 MSH2 MSH6
13 MutLalpha complex binding GO:0032405 9.43 MSH2 MSH6 MUTYH
14 guanine/thymine mispair binding GO:0032137 9.13 MLH1 MSH2 MSH6
15 beta-catenin binding GO:0008013 9.02 APC APC2 AXIN1 AXIN2 CDH1
16 protein binding GO:0005515 10.28 APC APC2 AXIN1 AXIN2 CCND1 CDH1

Sources for Familial Adenomatous Polyposis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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