MCID: ADN021
MIFTS: 75

Adenomatous Polyposis Coli malady

Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Ear diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Adenomatous Polyposis Coli

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NIH Rare Diseases:41 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: Adenomatous Polyposis Coli, also known as familial adenomatous polyposis, is related to hepatocellular adenoma and lynch syndrome, and has symptoms including adenomatous colonic polyposis, intestinal polyposis and duodenal polyposis. An important gene associated with Adenomatous Polyposis Coli is APC (adenomatous polyposis coli), and among its related pathways are Regulation of CDC42 activity and Wnt Pathway. The drug celecoxib and the compounds af/ap and methylazoxymethanol acetate have been mentioned in the context of this disorder. Affiliated tissues include colon, skin and bone, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Disease Ontology:9 An autosomal dominant disease that is caused by 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:21 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.

OMIM:45 Familial adenomatous polyposis is an autosomal dominant disorder characterized by predisposition to cancer. Affected... (175100) more...

Wikipedia:63 This article refers to the tumor suppressor APC, in which mutations lead to colon cancer. For the... more...

Aliases & Classifications for Adenomatous Polyposis Coli

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Sources:
45OMIM, 10diseasecard, 63Wikipedia, 41NIH Rare Diseases, 21Genetics Home Reference, 22GTR, 60UMLS, 47Orphanet, 9Disease Ontology, 20GeneTests, 11DISEASES, 43Novoseek, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Adenomatous Polyposis Coli, Aliases & Descriptions:

Name: Adenomatous Polyposis Coli 45 10 63 41 21 22 60
Familial Adenomatous Polyposis 9 63 41 20 21 11 43 47
Gardner Syndrome 45 10 41 47 60
Fap 63 41 21 47
Adenomatous Polyposis of the Colon 9 63 41
High Myopia-Sensorineural Deafness Syndrome 41 47
Familial Multiple Polyposis Syndrome 21 22
Brain Tumor-Polyposis Syndrome 2 45 60
Familial Intestinal Polyposis 41 60
Hereditary Polyposis Coli 63 41
Gardner's Syndrome 41 20
Gardners Syndrome 43 22
Polyposis Coli and Multiple Hard and Soft Tissue Tumors 41
Intestinal Polyposis, Osteomas, Sebaceous Cysts 41
 
Familial Adenomatous Polyposis of the Colon 41
Adenomatous Familial Polyposis Syndrome 21
Polyposis, Adenomatous Intestinal 41
Colorectal Adenomatous Polyposis 47
Familial Adenomatous Polyposis 1 45
Familial Polyposis of the Colon 41
Adenomatous Familial Polyposis 21
Familial Multiple Polyposis 41
Myh-Associated Polyposis 21
Familial Polyposis Coli 47
Colon Cancer, Familial 63
Polyposis Coli 63
Fpc 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
familial adenomatous polyposis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adult; Age of death: adult
high myopia-sensorineural deafness syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 175100
Disease Ontology9 DOID:0050424
MeSH33 D011125
Orphanet47 733, 363396, 79665
MESH via Orphanet34 D011125, D005736
ICD10 via Orphanet26 D12.6
UMLS via Orphanet61 C0032580, C0017097

Related Diseases for Adenomatous Polyposis Coli

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

(show top 50)    (show all 168)
idRelated DiseaseScoreTop Affiliating Genes
1hepatocellular adenoma31.6APC, CTNNB1
2lynch syndrome31.5MUTYH, APC
3breast cancer31.2CTNNB1, WNT1, APC
4medulloblastoma31.1APC, CTNNB1
5adenoma31.1APC, MUTYH, CTNNB1, AXIN2
6peutz-jeghers syndrome31.0CTNNB1, APC
7fibromatosis30.9APC, CTNNB1
8mismatch repair cancer syndrome30.9APC, CTNNB1
9colorectal cancer30.9APC, MUTYH, WNT1, CTNNB1, AXIN1, AXIN2
10hepatocellular carcinoma30.7CTNNB1, WNT1, MUTYH, APC, AXIN1
11desmoid disease, hereditary30.7CTNNB1, APC
12hepatoblastoma30.4AXIN2, CTNNB1, APC
13gastric cancer, somatic30.2CTNNB1, WNT1, MUTYH, APC
14thyroid cancer10.6
15colorectal adenoma10.6
16thyroiditis10.6
17polyneuropathy10.6
18familial adenomatous polyposis due to 5q22.2 microdeletion10.6
19lung cancer10.5
20oral squamous cell carcinoma10.5
21neuronitis10.5
22attenuated familial adenomatous polyposis10.5
23colon adenoma10.5
24nasopharyngitis10.5
25blindness10.5
26crohn's disease10.5
27acute pancreatitis10.5
28papillary carcinoma10.5
29duodenal disease10.5
30inflammatory bowel disease10.5
31mutyh-related attenuated familial adenomatous polyposis10.5
32apc-related attenuated familial adenomatous polyposis10.5
33juvenile nasopharyngeal angiofibroma10.5
34axin2-related attenuated familial adenomatous polyposis10.5
35polyposis, juvenile intestinal10.5APC
36retinoblastoma10.5
37ulcerative colitis10.5
38ameloblastoma10.5
39colitis10.5
40samson gardner syndrome10.4
41intestinal neoplasm10.4CTNNB1, APC
42gastrointestinal stromal tumor10.4
43hemangioma10.4
44periampullary adenoma10.4
45pulmonary sclerosing hemangioma10.4
46gastric adenocarcinoma10.4
47sclerosing hemangioma10.4
48mental retardation10.4
49generalized juvenile polyposis/juvenile polyposis coli10.3
50amyloidosis, hereditary, transthyretin-related10.3

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



Diseases related to adenomatous polyposis coli

Symptoms for Adenomatous Polyposis Coli

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Symptoms by clinical synopsis from OMIM:

175100

Clinical features from OMIM:

175100

Symptoms:

 47 (show all 12)
  • polyposis of the bowel/colon/intestine
  • autosomal dominant inheritance
  • neoplasms/tumors
  • colon neoplasm/tumor/carcinoma/cancer
  • supernumerary teeth/polyodontia
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • dental cysts/tumors
  • irregular/in bands/reticular skin hyperpigmentation
  • xanthomas/lipomas
  • fibromatosis/bone fibroma
  • sarcoma
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer

HPO human phenotypes related to Adenomatous Polyposis Coli:

(show all 34)
id Description Frequency HPO Source Accession
1 adenomatous colonic polyposis hallmark (90%) HP:0005227
2 intestinal polyposis hallmark (90%) HP:0200008
3 duodenal polyposis typical (50%) HP:0004783
4 neoplasm of the colon typical (50%) HP:0100273
5 colon cancer frequent (33%) HP:0003003
6 multiple gastric polyps frequent (33%) HP:0004394
7 adrenocortical adenoma 13% HP:0008256
8 desmoid tumors 10% HP:0100245
9 carious teeth occasional (7.5%) HP:0000670
10 unerupted tooth occasional (7.5%) HP:0000706
11 congenital hypertrophy of retinal pigment epithelium occasional (7.5%) HP:0007649
12 fibroma of the breast occasional (7.5%) HP:0010619
13 increased number of teeth occasional (7.5%) HP:0011069
14 osteoma occasional (7.5%) HP:0100246
15 epidermoid cyst occasional (7.5%) HP:0200040
16 delayed eruption of teeth occasional (7.5%) HP:0000684
17 multiple lipomas occasional (7.5%) HP:0001012
18 neoplasm of the nervous system occasional (7.5%) HP:0004375
19 irregular hyperpigmentation occasional (7.5%) HP:0007400
20 sarcoma occasional (7.5%) HP:0100242
21 odontogenic neoplasm occasional (7.5%) HP:0100612
22 duodenal carcinoma 4% HP:0006771
23 hepatoblastoma 1.6% HP:0002884
24 medulloblastoma very rare (1%) HP:0002885
25 papillary thyroid carcinoma very rare (1%) HP:0002895
26 autosomal dominant inheritance HP:0000006
27 hyperpigmentation of the skin HP:0000953
28 multiple lipomas HP:0001012
29 variable expressivity HP:0003828
30 small intestine carcinoid HP:0006722
31 adrenocortical carcinoma HP:0006744
32 astrocytoma HP:0009592
33 keloids HP:0010562
34 odontoma HP:0011068

Drugs & Therapeutics for Adenomatous Polyposis Coli

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Drug clinical trials:

Search ClinicalTrials for Adenomatous Polyposis Coli

Search NIH Clinical Center for Adenomatous Polyposis Coli

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Adenomatous Polyposis Coli

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Genetic tests related to Adenomatous Polyposis Coli:

id Genetic test Affiliating Genes
1 Familial Adenomatous Polyposis20
2 Gardner Syndrome20 22
3 Adenomatous Polyposis Coli22
4 Familial Multiple Polyposis Syndrome22

Anatomical Context for Adenomatous Polyposis Coli

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MalaCards organs/tissues related to Adenomatous Polyposis Coli:

31
Colon, Skin, Bone, Small intestine, Brain, Breast, Thyroid, Lung, Eye, T cells, Thymus, Cortex, Kidney, Liver, Placenta, Endothelial

Animal Models for Adenomatous Polyposis Coli or affiliated genes

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MGI Mouse Phenotypes related to Adenomatous Polyposis Coli:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4AXIN1, DVL1, APC, WNT1, CTNNB1, SLITRK6
2MP:00053829.1APC, AMER1, WNT1, CTNNB1, AXIN1, AXIN2
3MP:00053719.0APC, AMER1, CTNNB1, AXIN1, AXIN2
4MP:00053909.0DVL1, APC, AMER1, WNT1, CTNNB1, AXIN1
5MP:00053808.9DVL1, APC, AMER1, WNT1, CTNNB1, AXIN1
6MP:00053858.8ARHGEF4, AXIN2, AXIN1, CTNNB1, AMER1, APC
7MP:00036318.7DVL1, APC2, APC, MUTYH, WNT1, CTNNB1
8MP:00053868.6DVL1, APC2, APC, WNT1, CTNNB1, SLITRK6
9MP:00053848.5APC2, APC, AMER1, MUTYH, WNT1, CTNNB1

Publications for Adenomatous Polyposis Coli

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Articles related to Adenomatous Polyposis Coli:

(show top 50)    (show all 261)
idTitleAuthorsYear
1
Desmoid tumour biology in patients with familial adenomatous polyposis coli. (23334997)
2013
2
Adenomatous polyposis coli gene involvement in ileal enterochromaffin cell neuroendocrine neoplasms. (24139208)
2013
3
Adenomatous polyposis coli (APC) regulates multiple signaling pathways by enhancing glycogen synthase kinase-3 (GSK-3) activity. (22184111)
2012
4
Hypermethylation of adenomatous polyposis coli gene promoter is associated with novel Wnt signaling pathway in gastric adenomas. (22741528)
2012
5
Ovarian steroid cell tumor with biallelic adenomatous polyposis coli inactivation in a patient with familial adenomatous polyposis. (22120905)
2012
6
Reversible modification of adenomatous polyposis coli (APC) with K63-linked polyubiquitin regulates the assembly and activity of the I^-catenin destruction complex. (22761442)
2012
7
Amer2 protein interacts with EB1 protein and adenomatous polyposis coli (APC) and controls microtubule stability and cell migration. (22898821)
2012
8
Adenomatous polyposis coli regulates axon arborization and cytoskeleton organization via its N-terminus. (21915313)
2011
9
Novel double-negative feedback loop between adenomatous polyposis coli and Musashi1 in colon epithelia. (21199875)
2011
10
Proteomic identification of overexpressed adenomatous polyposis coli and cyclin B3 during endoderm differentiation from human embryonic stem cells. (21404461)
2011
11
Crystal structure of the armadillo repeat domain of adenomatous polyposis coli which reveals its inherent flexibility. (21871439)
2011
12
A novel frameshift mutation in exon 12 of the adenomatous polyposis coli gene in an Italian family with familial adenomatous polyposis and desmoid tumour. (20589194)
2010
13
Polymorphisms in the adenomatous polyposis coli (APC) gene and advanced colorectal adenoma risk. (20510605)
2010
14
The COP9 signalosome mediates beta-catenin degradation by deneddylation and blocks adenomatous polyposis coli destruction via USP15. (19576224)
2009
15
The adenomatous polyposis coli tumor suppressor and Wnt signaling in the regulation of apoptosis. (19928354)
2009
16
Recruitment of adenomatous polyposis coli and beta-catenin to axin-puncta. (18591934)
2008
17
Proteomic profiling reveals the prognostic value of adenomatous polyposis coli-end-binding protein 1 in hepatocellular carcinoma. (18937283)
2008
18
A novel function of adenomatous polyposis coli (APC) in regulating DNA repair. (18662849)
2008
19
Ligand-dependent interaction between estrogen receptor alpha and adenomatous polyposis coli. (18498351)
2008
20
Effect of adenomatous polyposis coli(APC) promoter methylation on gene transcription in lung cancer cell lines]. (17562260)
2007
21
Haploinsufficiency of KrA1ppel-like factor 4 promotes adenomatous polyposis coli dependent intestinal tumorigenesis. (17671182)
2007
22
Impact of adenomatous polyposis coli (APC) tumor supressor gene in human colon cancer cell lines on cell cycle arrest by apigenin. (17620292)
2007
23
Cigarette smoke condensate-induced level of adenomatous polyposis coli blocks long-patch base excision repair in breast epithelial cells. (16924228)
2007
24
How the I1307K adenomatous polyposis coli gene variant contributes in the assessment of risk of colorectal cancer, but not stomach cancer, in a Turkish population. (17854661)
2007
25
Lack of adenomatous polyposis coli protein correlates with a decrease in cell migration and overall changes in microtubule stability. (17192415)
2007
26
Adenomatous polyposis coli determines sensitivity to histone deacetylase inhibitor-induced apoptosis in colon cancer cells. (16982769)
2006
27
Immunohistochemical detection of beta-catenin and adenomatous polyposis coli in ameloblastomas. (16011608)
2005
28
Restoration of full-length adenomatous polyposis coli (APC) protein in a colon cancer cell line enhances cell adhesion. (14679305)
2004
29
Cyclooxygenase 2 inhibitors and adenomatous polyposis coli]. (15899631)
2004
30
Influence of age on adenomatous polyposis coli and p53 mutation frequency in sporadic colorectal cancer-rarity of co-occurrence of mutations in APC, K-ras, and p53 genes. (15449054)
2004
31
Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis. (14729851)
2004
32
Combined effects of prostaglandin E receptor subtype EP1 and subtype EP4 antagonists on intestinal tumorigenesis in adenomatous polyposis coli gene knockout mice. (12841871)
2003
33
The androgen receptor can promote beta-catenin nuclear translocation independently of adenomatous polyposis coli. (11856748)
2002
34
Quantitative adenomatous polyposis coli promoter methylation analysis in tumor tissue, serum, and plasma DNA of patients with lung cancer. (11809682)
2002
35
Absence of mutations in the beta-catenin and adenomatous polyposis coli genes in papillary and follicular thyroid carcinomas. (11696170)
2001
36
Molecular mechanisms of beta-catenin recognition by adenomatous polyposis coli revealed by the structure of an APC-beta-catenin complex. (11707392)
2001
37
Complex formation of adenomatous polyposis coli gene product and axin facilitates glycogen synthase kinase-3 beta-dependent phosphorylation of beta-catenin and down-regulates beta-catenin. (10906131)
2000
38
Adenomatous polyposis coli protein contains two nuclear export signals and shuttles between the nucleus and cytoplasm. (11035805)
2000
39
Beta-catenin and adenomatous polyposis coli (APC) mutations in adenomas from hereditary non-polyposis colorectal cancer patients. (10936679)
2000
40
Genotype-phenotype correlations in attenuated adenomatous polyposis coli. (9585611)
1998
41
Absence of somatic alterations of the EB1 gene adenomatous polyposis coli-associated protein in human sporadic colorectal cancers. (9823979)
1998
42
The inducible prostaglandin biosynthetic enzyme, cyclooxygenase 2, is not mutated in patients with attenuated adenomatous polyposis coli. (9809998)
1998
43
Childhood hepatocellular adenoma in familial adenomatous polyposis: mutations in adenomatous polyposis coli gene and p53. (9041254)
1997
44
Deletion of an amino-terminal sequence beta-catenin in vivo and promotes hyperphosporylation of the adenomatous polyposis coli tumor suppressor protein. (8754807)
1996
45
High resolution genetic map of the adenomatous polyposis coli gene (APC) region. (7604852)
1995
46
Adenomatous polyposis coli, protein kinases, protein tyrosine phosphatase: the effect of sulindac. (7723369)
1995
47
Somatic mutations of the adenomatous polyposis coli gene in gastroduodenal tumors from patients with familial adenomatous polyposis. (7606737)
1995
48
Mutations of the adenomatous polyposis coli gene in sporadic thyroid neoplasms. (7962323)
1994
49
Mutations of the adenomatous polyposis coli gene in the mutation cluster region: comparison of human pancreatic and colorectal cancers. (7927902)
1994
50
Purification of recombinant adenomatous polyposis coli polypeptide chains from E. coli extracts by continuous-elution electrophoresis. (8199219)
1993

Variations for Adenomatous Polyposis Coli

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UniProtKB/Swiss-Prot genetic disease variations for Adenomatous Polyposis Coli:

62 (show all 11)
id Symbol AA change Variation ID SNP ID
1APCp.Ser171IleVAR_005032
2APCp.Arg414CysVAR_005033rs137854567
3APCp.Ser784ThrVAR_005034
4APCp.Glu911GlyVAR_005038
5APCp.Pro1176LeuVAR_005044
6APCp.Thr1313AlaVAR_005051
7APCp.Arg1348TrpVAR_005053
8APCp.Ser2621CysVAR_005056rs72541816
9APCp.Leu2839PheVAR_005057
10APCp.Ser722GlyVAR_009614
11APCp.Ala1184ProVAR_009616

Clinvar genetic disease variations for Adenomatous Polyposis Coli:

6 (show all 41)
id Gene Variation Type Significance SNP ID Assembly Location
1MUTYHNM_001128425.1(MUTYH): c.1437_1439delGGA (p.Glu480del)deletionPathogenicGRCh37Chr 1, 45796891: 45796893
2MUTYHNM_001128425.1(MUTYH): c.1228_1229insGG (p.Glu410Glyfs)insertionPathogenicGRCh37Chr 1, 45797186: 45797187
3MUTYHNM_001128425.1(MUTYH): c.933+3A> Csingle nucleotide variantPathogenicGRCh37Chr 1, 45797835: 45797835
4MUTYHNM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp)single nucleotide variantPathogenicrs200844166GRCh37Chr 1, 45796912: 45796912
5MUTYHNM_001128425.1(MUTYH): c.733C> T (p.Arg245Cys)single nucleotide variantLikely pathogenic, Pathogenicrs200495564GRCh37Chr 1, 45798118: 45798118
6MUTYHNM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys)single nucleotide variantPathogenicrs34612342GRCh37Chr 1, 45798475: 45798475
7MUTYHNM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp)single nucleotide variantPathogenicrs36053993GRCh37Chr 1, 45797228: 45797228
8MUTYHNM_001128425.1(MUTYH): c.1461delC (p.Thr488Profs)deletionPathogenicGRCh37Chr 1, 45796869: 45796869
9MUTYHNM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter)single nucleotide variantPathogenicrs121908380GRCh37Chr 1, 45799121: 45799121
10MUTYHNM_001128425.1(MUTYH): c.1438G> T (p.Glu480Ter)single nucleotide variantPathogenicrs121908381GRCh37Chr 1, 45796892: 45796892
11APCNM_000038.5(APC): c.730_731delAG (p.Arg244Valfs)deletionPathogenicrs387906228GRCh37Chr 5, 112136976: 112136977
12APCNM_000038.5(APC): c.1369delT (p.Ser457Hisfs)deletionPathogenicrs387906229GRCh37Chr 5, 112157649: 112157649
13APCNM_000038.5(APC): c.1500T> G (p.Tyr500Ter)single nucleotide variantPathogenicrs387906230GRCh37Chr 5, 112162896: 112162896
14APCNM_000038.5(APC): c.1240C> T (p.Arg414Cys)single nucleotide variantPathogenicrs137854567GRCh37Chr 5, 112154969: 112154969
15APCNM_000038.5(APC): c.904C> T (p.Arg302Ter)single nucleotide variantPathogenicrs137854568GRCh37Chr 5, 112151261: 112151261
16APCNM_000038.5(APC): c.509_512delATAG (p.Asp170Valfs)deletionPathogenicrs387906231GRCh37Chr 5, 112111412: 112111415
17APCNM_000038.5(APC): c.1069dupA (p.Ile357Asnfs)duplicationPathogenicrs387906232GRCh37Chr 5, 112154798: 112154799
18APCNM_000038.5(APC): c.1621C> T (p.Gln541Ter)single nucleotide variantPathogenicrs137854572GRCh37Chr 5, 112163698: 112163698
19APCNM_000038.5(APC): c.1660C> T (p.Arg554Ter)single nucleotide variantPathogenicrs137854573GRCh37Chr 5, 112164586: 112164586
20APCNM_000038.5(APC): c.1690C> T (p.Arg564Ter)single nucleotide variantPathogenicrs137854574GRCh37Chr 5, 112164616: 112164616
21APCNM_000038.5(APC): c.1885_1886insA (p.Leu629Tyrfs)insertionPathogenicrs387906233GRCh37Chr 5, 112170789: 112170790
22APCNM_000038.5(APC): c.2805C> A (p.Tyr935Ter)single nucleotide variantPathogenicrs137854575GRCh37Chr 5, 112174096: 112174096
23APCNM_000038.5(APC): c.470G> A (p.Trp157Ter)single nucleotide variantPathogenicrs137854576GRCh37Chr 5, 112111373: 112111373
24APCNM_000038.5(APC): c.643C> T (p.Gln215Ter)single nucleotide variantPathogenicrs137854577GRCh37Chr 5, 112116598: 112116598
25NM_001127510.2: c.1959-640_*64188del71402deletionPathogenicGRCh37Chr 5, 112172610: 112244011
26APCNM_000038.5(APC): c.3927_3931delAAAGA (p.Glu1309Aspfs)deletionPathogenicrs121913224GRCh37Chr 5, 112175218: 112175222
27APCNM_000038.5(APC): c.5942delA (p.Asn1981Ilefs)deletionPathogenicrs397509433GRCh37Chr 5, 112177233: 112177233
28APCNM_000038.5(APC): c.5582_5585delCTTT (p.Ser1861Terfs)deletionPathogenicGRCh38Chr 5, 112841176: 112841179
29APCAPC, TYR486TERsingle nucleotide variantPathogenic
30APCNM_000038.5(APC): c.1311_1312+1delAAGdeletionPathogenicrs397514030GRCh37Chr 5, 112155040: 112155042
31APCNM_000038.5(APC): c.1098_1099delCT (p.Ser367Cysfs)deletionPathogenicrs387906237GRCh37Chr 5, 112154827: 112154828
32APCNM_000038.5(APC): c.1192_1193delAA (p.Lys398Glufs)deletionPathogenicrs387906238GRCh37Chr 5, 112154921: 112154922
33APCNM_000038.5(APC): c.937_938delGA (p.Glu313Asnfs)deletionPathogenicrs387906239GRCh37Chr 5, 112154666: 112154667
34APCAPC deletiondeletionPathogenicGRCh38Chr 5, 112707504: 112846240
35APCNM_000038.5(APC): c.423-1G> Asingle nucleotide variantPathogenicrs397514031GRCh37Chr 5, 112111325: 112111325
36APCAPC, 11-BP INS, NT1060insertionPathogenic
37APCNM_000038.5: c.(?_1959)_*(2113_?)deldeletionPathogenic
38APCAPC, 5-BP DEL, NT3221deletionPathogenic
39SLITRK6NM_032229.2(SLITRK6): c.1240C> T (p.Gln414Ter)single nucleotide variantPathogenicGRCh37Chr 13, 86369404: 86369404
40SLITRK6NM_032229.2(SLITRK6): c.890C> A (p.Ser297Ter)single nucleotide variantPathogenicGRCh37Chr 13, 86369754: 86369754
41SLITRK6NM_032229.2(SLITRK6): c.541C> T (p.Arg181Ter)single nucleotide variantPathogenicGRCh37Chr 13, 86370103: 86370103

Cosmic variations for Adenomatous Polyposis Coli:

7 (show all 356)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
110812TP53large intestine,colon,carcinoma,NS3
210859TP53large intestine,rectum,carcinoma,NS3
310646TP53large intestine,rectum,carcinoma,NS3
444091TP53large intestine,rectum,carcinoma,NS3
544877TP53large intestine,rectum,carcinoma,NS3
610889TP53large intestine,rectum,carcinoma,NS3
710790TP53large intestine,rectum,carcinoma,NS3
843596TP53large intestine,rectum,carcinoma,NS3
943606TP53large intestine,rectum,adenoma,NS3
1043616TP53large intestine,rectum,carcinoma,NS3
1110801TP53large intestine,rectum,carcinoma,NS3
1246163TP53large intestine,rectum,carcinoma,NS3
1310988TP53large intestine,rectum,carcinoma,NS3
1445327TP53large intestine,rectum,carcinoma,NS3
1545076TP53large intestine,rectum,adenoma,NS3
1643537TP53large intestine,rectum,carcinoma,NS3
1710739TP53large intestine,rectum,carcinoma,NS3
1811148TP53large intestine,rectum,carcinoma,NS3
1944643TP53large intestine,rectum,carcinoma,NS3
2043683TP53large intestine,rectum,carcinoma,NS3
2143899TP53large intestine,rectum,carcinoma,NS3
2210957TP53large intestine,colon,adenoma,NS3
2311084TP53large intestine,rectum,carcinoma,NS3
2410891TP53large intestine,rectum,carcinoma,NS3
2511542TP53large intestine,rectum,carcinoma,NS3
2610870TP53large intestine,rectum,adenoma,NS3
2710660TP53large intestine,rectum,carcinoma,NS3
2810883TP53large intestine,rectum,carcinoma,NS3
2910656TP53large intestine,rectum,carcinoma,NS3
3010662TP53large intestine,rectum,carcinoma,NS3
3111196TP53large intestine,rectum,carcinoma,NS3
3211496TP53large intestine,rectum,carcinoma,NS3
3311152TP53large intestine,rectum,carcinoma,NS3
346932TP53large intestine,rectum,carcinoma,NS3
3545139TP53large intestine,colon,adenoma,NS3
3643555TP53large intestine,rectum,carcinoma,NS3
3743569TP53large intestine,rectum,carcinoma,NS3
3810704TP53large intestine,rectum,carcinoma,NS3
3910941TP53large intestine,rectum,carcinoma,NS3
4010659TP53large intestine,rectum,carcinoma,NS3
4145330TP53large intestine,rectum,carcinoma,NS3
4245846TP53large intestine,rectum,carcinoma,NS3
4343687TP53large intestine,rectum,carcinoma,NS3
4410687TP53large intestine,rectum,carcinoma,NS3
4544117TP53large intestine,rectum,carcinoma,NS3
4644623TP53large intestine,rectum,carcinoma,NS3
4710758TP53large intestine,rectum,carcinoma,NS3
4845138TP53large intestine,rectum,adenoma,NS3
4944306TP53large intestine,rectum,carcinoma,NS3
5044654TP53large intestine,rectum,carcinoma,NS3
5110742TP53large intestine,rectum,carcinoma,NS3
5246378TP53large intestine,rectum,carcinoma,NS3
5310690TP53large intestine,rectum,carcinoma,NS3
5410762TP53large intestine,rectum,carcinoma,NS3
5510648TP53large intestine,rectum,carcinoma,NS3
56219806PIK3CAlarge intestine,colon,carcinoma,NS3
5730738PIK3CAlarge intestine,colon,carcinoma,NS3
5829327PIK3CAlarge intestine,colon,carcinoma,NS3
59219810PIK3CAlarge intestine,colon,carcinoma,NS3
60219807PIK3CAlarge intestine,colon,carcinoma,NS3
6118601PIK3CAlarge intestine,colon,carcinoma,NS3
62219809PIK3CAlarge intestine,colon,carcinoma,NS3
63763PIK3CAlarge intestine,colon,carcinoma,NS3
6436200PIK3CAlarge intestine,colon,carcinoma,NS3
6586997PIK3CAlarge intestine,colon,carcinoma,NS3
6629328PIK3CAlarge intestine,colon,carcinoma,NS3
6729329PIK3CAlarge intestine,colon,carcinoma,NS3
68219117PIK3CAlarge intestine,colon,carcinoma,NS3
6929325PIK3CAlarge intestine,colon,carcinoma,NS3
70775PIK3CAlarge intestine,colon,carcinoma,NS3
71219808PIK3CAlarge intestine,colon,carcinoma,NS3
7230745PIK3CAlarge intestine,colon,carcinoma,NS3
7330744PIK3CAlarge intestine,colon,carcinoma,NS3
74555KRASlarge intestine,colon,carcinoma,NS3
75520KRASlarge intestine,colon,carcinoma,NS3
76552KRASlarge intestine,colon,carcinoma,NS3
77546KRASlarge intestine,colon,carcinoma,NS3
78554KRASlarge intestine,rectum,adenoma,NS3
79521KRASlarge intestine,colon,carcinoma,NS3
8019404KRASlarge intestine,colon,carcinoma,NS3
81532KRASlarge intestine,colon,adenoma,NS3
82518KRASlarge intestine,colon,carcinoma,NS3
83549KRASlarge intestine,colon,carcinoma,NS3
84517KRASlarge intestine,rectum,adenoma,NS3
85522KRASlarge intestine,colon,adenoma,NS3
86516KRASlarge intestine,colon,carcinoma,NS3
87562NRASlarge intestine,colon,carcinoma,NS3
88563NRASlarge intestine,colon,carcinoma,NS3
89564NRASlarge intestine,rectum,adenoma,NS3
90583NRASlarge intestine,colon,carcinoma,NS3
91584NRASlarge intestine,colon,carcinoma,NS3
9217611NRASlarge intestine,colon,carcinoma,NS3
93580NRASlarge intestine,colon,carcinoma,NS3
94460BRAFsmall intestine,duodenum,adenoma,NS3
9521492BRAFlarge intestine,colon,adenoma,NS3
96467BRAFlarge intestine,colon,adenoma,NS3
9721493BRAFlarge intestine,colon,adenoma,NS3
981131BRAFlarge intestine,colon,carcinoma,NS3
99476BRAFsmall intestine,duodenum,adenoma,NS3
1005687CTNNB1large intestine,rectum,adenoma,NS3
1015664CTNNB1large intestine,colon,adenoma,NS3
10213153CTNNB1large intestine,colon,adenoma,NS3
1035671CTNNB1large intestine,colon,adenoma,NS3
1045667CTNNB1large intestine,colon,adenoma,NS3
1051682118PI4KAlarge intestine,colon,carcinoma,NS3
1061682120PI4KAlarge intestine,colon,carcinoma,NS3
1071682122PI4KAlarge intestine,colon,carcinoma,NS3
1081667422DNALI1large intestine,colon,carcinoma,NS3
1091667421DNALI1large intestine,colon,carcinoma,NS3
1101165388DNALI1large intestine,colon,adenoma,NS3
11119370APClarge intestine,colon,adenoma,NS3
1121671804APClarge intestine,colon,carcinoma,NS3
11319382APCsmall intestine,duodenum,adenoma,NS3
1141166052RIPK4large intestine,colon,adenoma,NS3
1151681992RIPK4large intestine,colon,carcinoma,NS3
1161165818MATKlarge intestine,colon,adenoma,NS3
1171680517MATKlarge intestine,colon,carcinoma,NS3
1181669702IDH1large intestine,colon,carcinoma,NS3
1191669701IDH1large intestine,colon,carcinoma,NS3
120247664SYKlarge intestine,colon,carcinoma,NS3
1211166097SYKlarge intestine,colon,adenoma,NS3
1221677517LATS2large intestine,colon,carcinoma,NS3
1231677515LATS2large intestine,colon,carcinoma,NS3
12414241SMAD4large intestine,colon,adenoma,NS3
12514240SMAD4large intestine,colon,adenoma,NS3
1261677076ERBB3large intestine,colon,carcinoma,NS3
1271677072ERBB3large intestine,colon,carcinoma,NS3
12830598FBXW7large intestine,colon,adenoma,NS3
12930597FBXW7large intestine,rectum,adenoma,NS3
1301680779NWD1large intestine,colon,carcinoma,NS3
13184505NWD1large intestine,colon,carcinoma,NS3
1321667399NCDNlarge intestine,colon,carcinoma,NS3
1331667397NCDNlarge intestine,colon,carcinoma,NS3
1341165833PPP1R16Blarge intestine,colon,adenoma,NS3
1351681670PPP1R16Blarge intestine,colon,carcinoma,NS3
13627895GNASlarge intestine,colon,adenoma,NS3
1371681801GNASlarge intestine,colon,carcinoma,NS3
1381166128PPP2R1Blarge intestine,rectum,adenoma,NS3
1391676438PPP2R1Blarge intestine,colon,carcinoma,NS3
1401667508PTPRFlarge intestine,colon,carcinoma,NS3
1411667509PTPRFlarge intestine,colon,carcinoma,NS3
1421677401RAB35large intestine,colon,carcinoma,NS3
1431677402RAB35large intestine,colon,carcinoma,NS3
1441674127TRPS1large intestine,colon,carcinoma,NS3
1451674117TRPS1large intestine,colon,carcinoma,NS3
1461670955UGDHlarge intestine,colon,carcinoma,NS3
1471670954UGDHlarge intestine,colon,carcinoma,NS3
1481681054AXLlarge intestine,colon,carcinoma,NS3
1491681053AXLlarge intestine,colon,carcinoma,NS3
1501673873ANK1large intestine,colon,carcinoma,NS3
1511673879ANK1large intestine,colon,carcinoma,NS3
1521673233GNAI1large intestine,colon,carcinoma,NS3
1531682028AIRElarge intestine,colon,carcinoma,NS3
1541679680GIT1large intestine,colon,carcinoma,NS3
1551680264GATA6large intestine,colon,carcinoma,NS3
1561166012GNAO1large intestine,colon,adenoma,NS3
1571673686AGAP3large intestine,colon,carcinoma,NS3
1581678710ADAMTS17large intestine,colon,carcinoma,NS3
1591675321ADAMTS14large intestine,colon,carcinoma,NS3
1601675556ADRA2Alarge intestine,colon,carcinoma,NS3
1611675065FRMD4Alarge intestine,colon,carcinoma,NS3
1621674574GNAQlarge intestine,colon,carcinoma,NS3
1631678552FEM1Blarge intestine,colon,carcinoma,NS3
1641675617FGFR2large intestine,colon,carcinoma,NS3
1651165150ALKlarge intestine,rectum,adenoma,NS3
1661671849FBN2large intestine,colon,carcinoma,NS3
1671667099GPR153large intestine,colon,carcinoma,NS3
1681672977FRMD1large intestine,colon,carcinoma,NS3
169327803FLT4large intestine,colon,carcinoma,NS3
1701682903FHL1large intestine,colon,carcinoma,NS3
1711671030KDRlarge intestine,colon,carcinoma,NS3
1721667771KIAA1324large intestine,colon,carcinoma,NS3
1731668573KIAA1804large intestine,colon,carcinoma,NS3
1741681945ITSN1large intestine,colon,carcinoma,NS3
1751678583ISLR2large intestine,colon,carcinoma,NS3
1761679096IRX6large intestine,colon,carcinoma,NS3
1771668688KIDINS220large intestine,colon,carcinoma,NS3
1781668080KIRRELlarge intestine,colon,carcinoma,NS3
1791674906ABL1large intestine,colon,carcinoma,NS3
1801165612ABHD12Blarge intestine,colon,adenoma,NS3
1811671460KLKB1large intestine,colon,carcinoma,NS3
1821680563INSRlarge intestine,colon,carcinoma,NS3
1831669916ING5large intestine,colon,carcinoma,NS3
1841677157HELBlarge intestine,colon,carcinoma,NS3
1851667192ACTL8large intestine,colon,carcinoma,NS3
1861679464ACAP1large intestine,colon,carcinoma,NS3
1871679859HDAC5large intestine,colon,carcinoma,NS3
1881681566GZF1large intestine,colon,carcinoma,NS3
1891165523HCFC1large intestine,colon,adenoma,NS3
1901669437HOXD3large intestine,colon,carcinoma,NS3
1911670634HPS3large intestine,colon,carcinoma,NS3
1921671449ING2large intestine,colon,carcinoma,NS3
1931676676ING4large intestine,colon,carcinoma,NS3
1941675029IL15RAlarge intestine,colon,carcinoma,NS3
1951678708IGF1Rlarge intestine,colon,carcinoma,NS3
1961678062HSPA2large intestine,colon,carcinoma,NS3
1971678619FAHlarge intestine,colon,carcinoma,NS3
1981681682CHD6large intestine,colon,carcinoma,NS3
1991675493CHUKlarge intestine,colon,carcinoma,NS3
200252440CITlarge intestine,colon,carcinoma,NS3
2011166001CDK8large intestine,colon,adenoma,NS3
2021476831CHD4large intestine,colon,carcinoma,NS3
2031165358DCClarge intestine,colon,adenoma,NS3
2041165779DAPK1large intestine,colon,adenoma,NS3
2051672593CYB5R4large intestine,colon,carcinoma,NS3
2061377912CORO7large intestine,colon,carcinoma,NS3
2071680364CXXC1large intestine,colon,carcinoma,NS3
2081679157CDH5large intestine,colon,carcinoma,NS3
2091166156CDH10large intestine,rectum,adenoma,NS3
2101675426BTAF1large intestine,colon,carcinoma,NS3
2111021977BCL11Alarge intestine,colon,carcinoma,NS3
2121166144BIRC6large intestine,rectum,adenoma,NS3
2131667076CALML6large intestine,colon,carcinoma,NS3
2141678767CASKIN1large intestine,colon,carcinoma,NS3
2151669728BARD1large intestine,colon,carcinoma,NS3
2161165660CCNB3large intestine,colon,adenoma,NS3
2171676499CBLlarge intestine,colon,carcinoma,NS3
2181668947CCDC88Alarge intestine,colon,carcinoma,NS3
2191166119DCST1large intestine,rectum,adenoma,NS3
2201678727AXIN1large intestine,colon,carcinoma,NS3
2211667239EPHA8large intestine,colon,carcinoma,NS3
22214062ERBB2large intestine,colon,adenoma,NS3
2231673614EPHA1large intestine,colon,carcinoma,NS3
2241103146ANKS6large intestine,colon,adenoma,NS3
225186102EPB41L1large intestine,colon,carcinoma,NS3
2261165618EPB41L3large intestine,colon,adenoma,NS3
2271669015ANKRD53large intestine,colon,carcinoma,NS3
2281682327FBLN1large intestine,colon,carcinoma,NS3
2291672131ERGIC1large intestine,colon,carcinoma,NS3
2301166418ERCC6Llarge intestine,colon,adenoma,NS3
2311679681ANKRD13Blarge intestine,colon,carcinoma,NS3
2321675275ANK3large intestine,colon,carcinoma,NS3
2331668977EHBP1large intestine,colon,carcinoma,NS3
2341679368DPH1large intestine,colon,carcinoma,NS3
2351673812DPYSL2large intestine,colon,carcinoma,NS3
2361673445DLDlarge intestine,colon,carcinoma,NS3
2371668231ASTN1large intestine,colon,carcinoma,NS3
2381668171DDR2large intestine,colon,carcinoma,NS3
2391680296DSC3large intestine,colon,carcinoma,NS3
2401668404DSTYKlarge intestine,colon,carcinoma,NS3
2411672226EEF1E1large intestine,colon,carcinoma,NS3
2421668921ASB3large intestine,colon,carcinoma,NS3
2431667495EBNA1BP2large intestine,colon,carcinoma,NS3
2441675373DUPD1large intestine,colon,carcinoma,NS3
2451678715LRRK1large intestine,colon,carcinoma,NS3
2461677445SBNO1large intestine,colon,carcinoma,NS3
2471673011SDK1large intestine,colon,carcinoma,NS3
2481669115SFTPBlarge intestine,colon,carcinoma,NS3
2491669647SATB2large intestine,colon,carcinoma,NS3
2501165768RUNX2large intestine,colon,adenoma,NS3
2511676451SIK3large intestine,colon,carcinoma,NS3
2521677130SLC26A10large intestine,colon,carcinoma,NS3
2531493863SMCR8large intestine,colon,carcinoma,NS3
25413148SMOlarge intestine,colon,carcinoma,NS3
2551677613SMAD9large intestine,colon,carcinoma,NS3
2561673555SLC35B4large intestine,colon,carcinoma,NS3
2571166298RUNX1T1large intestine,colon,adenoma,NS3
2581676753RERGLlarge intestine,colon,carcinoma,NS3
2591674803RC3H2large intestine,colon,carcinoma,NS3
2601672011RBM27large intestine,colon,carcinoma,NS3
2611668218RC3H1large intestine,colon,carcinoma,NS3
2621675178RETlarge intestine,colon,carcinoma,NS3
2631667596ROR1large intestine,colon,carcinoma,NS3
2641165432ROR2large intestine,colon,adenoma,NS3
2651674680RNF20large intestine,colon,carcinoma,NS3
2661165763RNF145large intestine,colon,adenoma,NS3
2671166201RHOUlarge intestine,colon,adenoma,NS3
268961311RHOVlarge intestine,colon,carcinoma,NS3
2691672659SOBPlarge intestine,colon,carcinoma,NS3
2701682926SOX3large intestine,colon,carcinoma,NS3
2711667867TTF2large intestine,colon,carcinoma,NS3
2721670007UBE2E2large intestine,colon,carcinoma,NS3
2731667210UBR4large intestine,colon,carcinoma,NS3
2741165334TTBK1large intestine,colon,adenoma,NS3
2751678766TRAF7large intestine,colon,carcinoma,NS3
2761667835TRIM33large intestine,colon,carcinoma,NS3
2771673340TRRAPlarge intestine,colon,carcinoma,NS3
2781671448VEGFClarge intestine,colon,carcinoma,NS3
2791677627WBP4large intestine,colon,carcinoma,NS3
2801679813ZNF385Clarge intestine,colon,carcinoma,NS3
2811678529ZNF609large intestine,colon,carcinoma,NS3
2821166013ZNF23large intestine,colon,adenoma,NS3
2831165480WNK3large intestine,colon,adenoma,NS3
2841165355YES1large intestine,colon,adenoma,NS3
285316091TP73large intestine,colon,carcinoma,NS3
2861674816STRBPlarge intestine,colon,carcinoma,NS3
2871676726STYK1large intestine,colon,carcinoma,NS3
2881678233SYNE3large intestine,colon,carcinoma,NS3
2891669912STK25large intestine,colon,carcinoma,NS3
29021354STK11large intestine,colon,adenoma,NS3
2911680104SPHK1large intestine,colon,carcinoma,NS3
2921673367STAG3large intestine,colon,carcinoma,NS3
2931679757SYNRGlarge intestine,colon,carcinoma,NS3
2941165494TGIF1large intestine,colon,adenoma,NS3
2951681784TFAP2Clarge intestine,colon,carcinoma,NS3
2961674425TEKlarge intestine,colon,carcinoma,NS3
2971681660RBL1large intestine,colon,carcinoma,NS3
2981680269RBBP8large intestine,colon,carcinoma,NS3
2991668495MARK1large intestine,colon,carcinoma,NS3
3001671681MCCC2large intestine,colon,carcinoma,NS3
3011668393MDM4large intestine,colon,carcinoma,NS3
3021678387MAPKBP1large intestine,colon,carcinoma,NS3
3031679643MAPK7large intestine,colon,carcinoma,NS3
3041672186MAPK9large intestine,colon,carcinoma,NS3
3051672069MFAP3large intestine,colon,carcinoma,NS3
3061677679NEK5large intestine,colon,carcinoma,NS3
30724500NF1large intestine,colon,carcinoma,NS3
3081681165NAPAlarge intestine,colon,carcinoma,NS3
3091667582MYSM1large intestine,colon,carcinoma,NS3
3101668900MSH6large intestine,colon,carcinoma,NS3
3111675439MYOFlarge intestine,colon,carcinoma,NS3
3121674235MAPK15large intestine,colon,carcinoma,NS3
3131667486LEPRE1large intestine,colon,carcinoma,NS3
3141680540LONP1large intestine,colon,carcinoma,NS3
3151677154LEMD3large intestine,colon,carcinoma,NS3
3161668830LCLAT1large intestine,colon,carcinoma,NS3
3171667355LCKlarge intestine,colon,carcinoma,NS3
3181676732LRP6large intestine,colon,carcinoma,NS3
3191670016LRRC3Blarge intestine,colon,carcinoma,NS3
3201165620MAP2K7large intestine,colon,adenoma,NS3
3211671660MAP3K1large intestine,colon,carcinoma,NS3
3221166351ZNF648large intestine,colon,adenoma,NS3
3231673519LRRC4large intestine,colon,carcinoma,NS3
324911940LRRC7large intestine,colon,carcinoma,NS3
3251670395NFKBIZlarge intestine,colon,carcinoma,NS3
3261670488POLQlarge intestine,colon,carcinoma,NS3
32751261PPP2R1Alarge intestine,colon,carcinoma,NS3
3281675518PPRC1large intestine,colon,carcinoma,NS3
3291165980PIK3R3large intestine,colon,adenoma,NS3
3301165343PIK3C2Alarge intestine,colon,adenoma,NS3
3311667930PI4KBlarge intestine,colon,carcinoma,NS3
3321679661PIGSlarge intestine,colon,carcinoma,NS3
33348689PRKCDlarge intestine,colon,carcinoma,NS3
3341676197RAB1Blarge intestine,colon,carcinoma,NS3
3351668046RAB25large intestine,colon,carcinoma,NS3
3361679727RASL10Blarge intestine,colon,carcinoma,NS3
3371675602RAB11FIP2large intestine,colon,carcinoma,NS3
3381000113PTPRSlarge intestine,colon,adenoma,NS3
3391675891PRMT3large intestine,colon,carcinoma,NS3
3401674218PTP4A3large intestine,colon,carcinoma,NS3
3411675470PI4K2Alarge intestine,colon,carcinoma,NS3
3421672541PHF3large intestine,colon,carcinoma,NS3
3431218441OLIG2large intestine,colon,carcinoma,NS3
3441678476ONECUT1large intestine,colon,carcinoma,NS3
3451678655NTRK3large intestine,colon,carcinoma,NS3
3461166183NTRK2large intestine,rectum,adenoma,NS3
3471165698OR5AS1large intestine,colon,adenoma,NS3
3481680284OSBPL1Alarge intestine,colon,carcinoma,NS3
3491674563PCSK5large intestine,colon,carcinoma,NS3
3501671390PDGFClarge intestine,colon,carcinoma,NS3
3511673637PDIA4large intestine,colon,carcinoma,NS3
3521678110PCNXlarge intestine,colon,carcinoma,NS3
3531676217PClarge intestine,colon,carcinoma,NS3
3541670645P2RY12large intestine,colon,carcinoma,NS3
3551166088PAX4large intestine,colon,adenoma,NS3
3561681819LAMA5large intestine,colon,carcinoma,NS3

Expression for genes affiliated with Adenomatous Polyposis Coli

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

Pathways for genes affiliated with Adenomatous Polyposis Coli

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

(show all 35)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1APC, SPATA13
2
Show member pathways
10.0CTNNB1, WNT1
39.9APC, CTNNB1, AXIN1
49.9AXIN2, CTNNB1, APC
59.8APC, CTNNB1, ARHGEF4
6
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B58
9.8AXIN2, AXIN1, CTNNB1
7
Show member pathways
Translation Non genomic rapid action of Androgen Receptor58
9.8CTNNB1, WNT1, DVL1
89.8DVL1, WNT1, CTNNB1
99.8AXIN1, CTNNB1, MAPRE1
109.8DVL1, APC, MAPRE1
119.6DVL1, CTNNB1, AXIN1, AXIN2
12
Show member pathways
9.4AXIN1, CTNNB1, WNT1, APC, DVL1
13
Show member pathways
9.4AXIN1, CTNNB1, WNT1, APC, DVL1
149.4DVL1, APC, WNT1, CTNNB1, AXIN1
159.4AXIN1, CTNNB1, WNT1, APC, DVL1
169.4DVL1, APC, WNT1, CTNNB1, AXIN1
179.4DVL1, APC, WNT1, CTNNB1, AXIN1
189.4DVL1, APC, WNT1, CTNNB1, AXIN1
199.4DVL1, APC, WNT1, CTNNB1, AXIN2
20
Show member pathways
Signal transduction PTEN pathway58
9.4AXIN2, AXIN1, CTNNB1, APC, APC2
219.3APC, AMER1, CTNNB1, AXIN1, AXIN2
229.3AXIN2, AXIN1, CTNNB1, WNT1, DVL1
239.3DVL1, APC2, APC, WNT1, CTNNB1
249.3CTNNB1, MAPRE2, MAPRE3, MAPRE1
25
Show member pathways
DNA damage response (only ATM dependent)36
Wnt Signaling Pathway and Pluripotency36
9.2DVL1, APC, WNT1, CTNNB1, AXIN1, AXIN2
26
Show member pathways
9.1DVL1, APC, WNT1, CTNNB1, AXIN1, ARHGEF4
279.1AXIN2, AXIN1, CTNNB1, AMER1, APC, DVL1
28
Show member pathways
Proteasome Degradation36
Immune response Antigen presentation by MHC class I58
9.1DVL1, APC, AMER1, WNT1, CTNNB1, AXIN1
29
Show member pathways
9.1DVL1, APC, AMER1, WNT1, CTNNB1, AXIN1
308.9DVL1, APC2, APC, WNT1, CTNNB1, AXIN1
31
Show member pathways
8.9DVL1, APC2, APC, WNT1, CTNNB1, AXIN1
32
Show member pathways
Wnt Signaling Pathway NetPath36
8.9DVL1, APC2, APC, WNT1, CTNNB1, AXIN1
338.9DVL1, APC2, APC, WNT1, CTNNB1, AXIN1
34
Show member pathways
8.8DVL1, APC, AMER1, WNT1, CTNNB1, AXIN1
358.7APC2, APC, MIR135A1, MIR106B, MIR122

Compounds for genes affiliated with Adenomatous Polyposis Coli

About this section
Sources:
43Novoseek, 49PharmGKB, 24HMDB, 12DrugBank
See all sources

Compounds related to Adenomatous Polyposis Coli according to GeneCards Suite gene sharing:

(show all 16)
idCompoundScoreTop Affiliating Genes
1af/ap4310.4APC, MUTYH
2methylazoxymethanol acetate4310.4APC, CTNNB1
31-hydroxyanthraquinone4310.4APC, CTNNB1
41,2-dimethylhydrazine4310.3CTNNB1, APC
5pidotimod4310.3CTNNB1, AXIN2
6azoxymethane4310.3CTNNB1, APC
72-amino-3-methylimidazo(4,5-f)quinoline4310.2CTNNB1, APC
8samp4310.2AXIN2, CTNNB1, APC
9exisulind4310.2APC, CTNNB1
10sodium bisulfite4310.1CTNNB1, APC
11lithium43 49 24 1213.1APC, WNT1, CTNNB1
128-oxoguanine4310.0MUTYH, APC
13nocodazole43 1211.0CTNNB1, MAPRE1, APC
14guanine43 24 1211.9CTNNB1, MUTYH, APC
15phip439.8APC, CTNNB1
16glycogen43 2410.6DVL1, APC, WNT1, CTNNB1, AXIN2

GO Terms for genes affiliated with Adenomatous Polyposis Coli

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1catenin complexGO:001634210.2APC2, CTNNB1
2microtubule plus-endGO:003537110.2MAPRE1, APC
3ruffle membraneGO:003258710.1ARHGEF4, APC, SPATA13
4cell peripheryGO:007194410.1AXIN1, CTNNB1
5lamellipodiumGO:003002710.0SPATA13, APC, CTNNB1
6beta-catenin destruction complexGO:003087710.0APC, CTNNB1, AXIN1, AXIN2
7lateral plasma membraneGO:00163289.9AXIN1, CTNNB1, APC, DVL1
8cytoplasmic membrane-bounded vesicleGO:00160239.9AXIN2, AXIN1, DVL1
9cell cortexGO:00059389.9DVL1, CTNNB1, AXIN1, AXIN2
10cell-cell adherens junctionGO:00059139.8APC, CTNNB1
11centrosomeGO:00058139.7APC, MAPRE1, CTNNB1, AXIN2
12microtubuleGO:00058749.4MAPRE2, MAPRE3, MAPRE1, DVL1
13perinuclear region of cytoplasmGO:00484719.3AXIN1, CTNNB1, MAPRE3, APC2
14cytoplasmic microtubuleGO:00058819.2AXIN2, AXIN1, MAPRE3, MAPRE1, APC, APC2
15cytosolGO:00058298.8ARHGEF4, AXIN1, CTNNB1, MAPRE1, AMER1, APC
16cytoplasmGO:00057377.9SPATA13, DVL1, APC2, APC, WNT1, MAPRE1

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1regulation of centromeric sister chromatid cohesionGO:007060210.4AXIN2, CTNNB1
2forebrain anterior/posterior pattern specificationGO:002179710.3AXIN1, WNT1
3Wnt signaling pathway involved in somitogenesisGO:009024410.3AXIN2, AXIN1
4embryonic axis specificationGO:000057810.3WNT1, CTNNB1
5proximal/distal pattern formationGO:000995410.3CTNNB1, APC
6protein localization to microtubuleGO:003537210.2MAPRE1, DVL1
7canonical Wnt signaling pathway involved in negative regulation of apoptotic processGO:004433610.2CTNNB1, WNT1, APC
8negative regulation of catenin import into nucleusGO:003541410.2AXIN2, APC2
9T cell differentiation in thymusGO:003307710.2CTNNB1, WNT1, APC
10cytoplasmic microtubule organizationGO:003112210.2DVL1, APC, AXIN1
11dorsal/ventral axis specificationGO:000995010.2AXIN2, AXIN1, CTNNB1
12filopodium assemblyGO:004684710.1ARHGEF4, SPATA13
13synapse organizationGO:005080810.1CTNNB1, DVL1
14cellular response to organic cyclic compoundGO:007140710.0AXIN2, AXIN1
15regulation of Rac GTPase activityGO:003231410.0SPATA13, ARHGEF4
16positive regulation of protein phosphorylationGO:000193410.0AXIN2, AXIN1, WNT1
17ectoderm developmentGO:00073989.9AMER2, CTNNB1
18lamellipodium assemblyGO:00300329.9ARHGEF4, SPATA13
19canonical Wnt signaling pathwayGO:00600709.7DVL1, APC, WNT1, CTNNB1, AXIN1
20bone developmentGO:00603489.6WNT1, AMER1
21positive regulation of transcription, DNA-templatedGO:00458939.5DVL1, WNT1, MAPRE3, CTNNB1, AXIN1
22negative regulation of canonical Wnt signaling pathwayGO:00900909.1AXIN2, AXIN1, AMER1, AMER2, APC, APC2
23Wnt signaling pathwayGO:00160559.0DVL1, APC2, AMER2, AMER1, WNT1, CTNNB1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1microtubule plus-end bindingGO:005101010.1MAPRE1, APC
2cadherin bindingGO:004529610.1CTNNB1, APC
3armadillo repeat domain bindingGO:007001610.1AXIN2, AXIN1
4I-SMAD bindingGO:007041110.1CTNNB1, AXIN1, AXIN2
5Rac guanyl-nucleotide exchange factor activityGO:003067610.0SPATA13, ARHGEF4
6R-SMAD bindingGO:007041210.0AXIN1, CTNNB1
7signal transducer activityGO:00048719.8DVL1, CTNNB1, AXIN1, AXIN2
8enzyme bindingGO:00198999.7DVL1, CTNNB1, AXIN1, AXIN2
9protein kinase bindingGO:00199019.6DVL1, APC, CTNNB1, AXIN1, AXIN2
10beta-catenin bindingGO:00080139.5AXIN2, AXIN1, AMER1, APC, APC2
11microtubule bindingGO:00080179.5MAPRE2, MAPRE3, APC, APC2
12protein C-terminus bindingGO:00080229.5AXIN1, CTNNB1, MAPRE1
13protein bindingGO:00055157.2SPATA13, DVL1, APC2, APC, AMER2, AMER1

Products for genes affiliated with Adenomatous Polyposis Coli

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  • Antibodies
  • Proteins
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  • Antibodies
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  • Kits and Assays

Sources for Adenomatous Polyposis Coli

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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