CD
MCID: CWD001
MIFTS: 69

Cowden Disease (CD) malady

Summaries for Cowden Disease

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Cowden syndrome is an inherited disorder characterized by multiple noncancerous, tumor-like growths called hamartomas on various areas of the body. affected individuals are at an increased risk of developing certain cancers, especially cancer of the breast, thyroid or endometrium (lining the uterus). cowden syndrome is caused by mutations in the pten, sdhb, sdhd, and klln  genes. this condition is inherited in an autosomal dominant pattern. in some cases, an affected person inherits the mutation from one affected parent. other cases may result from new mutations in the gene. last updated: 11/15/2012

MalaCards: Cowden Disease, also known as cowden's disease, is related to breast cancer and leukemia. An important gene associated with Cowden Disease is PTEN (phosphatase and tensin homolog), and among its related pathways are AKT phosphorylates targets in the cytosol and Androgen receptor signaling pathway. The compounds 4-methylumbelliferyl phosphate and crcs have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, breast and thyroid, and related mouse phenotypes are embryogenesis and endocrine/exocrine gland.

Genetics Home Reference:21 Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Wikipedia:63 Cowden syndrome (also known as \"Cowden\'s disease,\" and \"Multiple hamartoma syndrome\") is a rare... more...

Description from OMIM:46 158350

Aliases & Classifications for Cowden Disease

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8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt
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Aliases & Descriptions:

cowden disease 8 42 21 10 44
cowden's disease 42 20 22 21
cowden syndrome 8 63 42 21
multiple hamartoma syndrome 8 63 21
lhermitte-duclos disease 8 42 60
mham 63 42 21
cd 42 21
cs 42 21
dysplastic gangliocytoma of the cerebellum 42
dysplastic gangliocytoma of cerebellum 8
hamartoma syndrome, multiple 60
lhermitte-duclos syndrome 46
cowden's syndrome 21


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Disease Ontology8 DOID:6457
OMIM46 158350
SNOMED-CT56 58037000, 67944007
MeSH34 D006223
NCIt39 C3076, C8419

Related Diseases for Cowden Disease

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17GeneCards, 18GeneDecks
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Diseases in the Cowden Syndrome 1 family:

cowden disease Cowden Syndrome 2
Cowden Syndrome 5 Cowden Syndrome 4
Cowden Syndrome 3 Cowden Syndrome 6

Diseases related to Cowden Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 318)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer30.5BRCA1, BRCA2
2leukemia30.5BRCA1, BRCA2, PIK3CA, DUSP19, CDKN3, TEP1
3melanoma30.4BRCA2, PIK3CA, STK11, DUSP19, PTEN, TSC2
4neurofibromatosis30.4BRCA2, RET, TSC1, TSC2
5astrocytoma30.4BRCA1, PIK3CA, STK11, CDKN3, PTEN, TSC1
6acute leukemia30.3TSC2, TEP1, PIK3CA
7insulin resistance30.2PIK3CA, AKT2, DUSP19, CDKN3, TSC1, TSC2
8proteus syndrome30.2PTEN, CDKN3
9obesity30.1DUSP19
10diabetes mellitus30.1AKT2
11ganglioneuroma30.0PTEN, RET
12pancreatitis30.0BRCA2, SMAD4
13pancreatic cancer29.9BRCA2, RET, SMAD4
14carney complex29.9LYPD1
15bannayan-riley-ruvalcaba syndrome29.9CDKN3, PTEN
16juvenile polyposis syndrome29.9SMAD4, BMPR1A
17lung cancer29.9BRCA2, PIK3CA, STK11, AKT2, TEP1, TSC2
18bilateral breast cancer29.9BRCA2, BRCA1
19brca1 and brca2 hereditary breast and ovarian cancer29.9BRCA2, BRCA1
20familial adenomatous polyposis29.9BRCA1, STK11, SMAD4
21li-fraumeni syndrome29.9PTEN, BRCA2, BRCA1
22thyroid cancer29.9PIK3CA, RET, PTEN
23lynch syndrome29.9BRCA1, BRCA2
24oligodendroglioma29.9PTEN, TSC1
25colorectal cancer29.9PIK3CA, STK11, DUSP19, PTEN, SMAD4
26male breast cancer29.9BRCA1, BRCA2
27ataxia telangiectasia29.9BRCA1, BRCA2, PIK3CA, STK11, CDKN3
28autistic disorder29.9TSC2, TSC1
29adenoma29.9BRCA1, STK11, CNC, RET, TSC1, SMAD4
30follicular thyroid carcinoma29.9PTEN, PIK3CA
31endometrial carcinoma29.9BRCA1, BRCA2, PIK3CA, CDKN3, TEP1, PTEN
32peutz-jeghers syndrome29.9BRCA2, BMPR1A, STK11, STK11IP, CNC, CDKN3
33colon cancer29.9BRCA1, BRCA2, PIK3CA, STK11, CDKN3, PTEN
34ovarian cancer29.9BRCA1, BRCA2, PIK3CA, AKT2, CDKN3, PTEN
35adenocarcinoma29.9BRCA1, BRCA2, PIK3CA, STK11, AKT2, TEP1
36sarcoma29.7BRCA2
37myeloid leukemia29.7CDKN3, DUSP19
38osteosarcoma29.7DUSP19, SMAD4
39pituitary adenoma29.7CNC, RET
40alzheimer's disease29.7TSC2, TSC1, CDKN3, DUSP19
41bladder carcinoma29.7BRCA1, PIK3CA, TEP1, TSC1
42hepatocellular carcinoma29.7BRCA2, PIK3CA, STK11, TEP1, PTEN, SMAD4
43squamous cell carcinoma29.7PIK3CA, STK11, AKT2, DUSP19, TEP1, PTEN
44prostate cancer29.7PIK3CA, BMPR1A, BRCA2, BRCA1, AKT2, DUSP13
45cerebellar disease10.8
46medulloblastoma10.6
47breast disease10.4
48adult medulloblastoma10.4
49cerebellar medulloblastoma10.4
50renal agenesis10.4

Graphical network of the top 20 diseases related to Cowden Disease:



Diseases related to cowden disease

Clinical Features for Cowden Disease

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46OMIM
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Clinical features from OMIM:

158350

Drugs & Therapeutics for Cowden Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Cowden Disease

Drug clinical trials:

Search ClinicalTrials for Cowden Disease

Search NIH Clinical Center for Cowden Disease

Search CenterWatch for Cowden Disease

Genetic Tests for Cowden Disease

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20GeneTests, 22GTR
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Genetic tests related to Cowden Disease:

id Genetic test Affiliating Genes
1 Cowden Syndrome20 22 PTEN

Anatomical Context for Cowden Disease

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32MalaCards
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MalaCards organs/tissues related to Cowden Disease:

32
Cerebellum, Breast, Thyroid, Uterus, Skin, Testis

Animal Models for Cowden Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cowden Disease:

36 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.7BMPR1A, RET, TSC1, TSC2, SMAD4
2MP:00053799.7BRCA1, BRCA2, BMPR1A, PIK3CA, RET
3MP:00053699.6BMPR1A, AKT2, RET, TSC1, SMAD4
4MP:00036319.6BMPR1A, RET, TSC1, LYPD1
5MP:00053889.6BRCA1, BMPR1A, AKT2, PTEN, TSC1
6MP:00053679.2BRCA1, STK11, RET, PTEN, TSC1, TSC2
7MP:00107719.1BRCA1, BRCA2, BMPR1A, PIK3CA, STK11, PTEN
8MP:00053709.1STK11, AKT2, PTEN, TSC1, TSC2, SMAD4
9MP:00030128.9LYPD1, RET, AKT2, STK11, PIK3CA, BMPR1A
10MP:00053858.9BRCA1, BMPR1A, PIK3CA, STK11, RET, PTEN
11MP:00053898.7STK11, PIK3CA, BRCA2, BRCA1, AKT2, RET
12MP:00053978.7BRCA1, BRCA2, BMPR1A, STK11, AKT2, RET
13MP:00020068.6SMAD4, BRCA1, BRCA2, BMPR1A, PIK3CA, STK11
14MP:00053878.5BRCA1, BRCA2, BMPR1A, PIK3CA, STK11, AKT2
15MP:00053848.5PIK3CA, BMPR1A, BRCA2, BRCA1, STK11, AKT2
16MP:00053788.4PIK3CA, BMPR1A, BRCA2, BRCA1, STK11, AKT2
17MP:00028738.4BRCA1, BRCA2, BMPR1A, STK11, AKT2, MINPP1
18MP:00053768.4BRCA1, BRCA2, BMPR1A, PIK3CA, STK11, AKT2
19MP:00053868.3BRCA1, BRCA2, BMPR1A, PIK3CA, STK11, RET
20MP:00107688.2BRCA1, BRCA2, BMPR1A, PIK3CA, STK11, AKT2

Publications for Cowden Disease

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50PubMed
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Articles related to Cowden Disease:

(show top 50)    (show all 87)
idTitleAuthorsYear
1
Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) as a component of Cowden syndrome. (22499315)
2012
2
Case 175: Testicular lipomatosis in Cowden disease. (22012908)
2011
3
Enhanced lymphocyte interferon (IFN)-I^ responses in a PTEN mutation-negative Cowden disease kindred. (21361912)
2011
4
Type 2 segmental Cowden disease vs. Proteus syndrome: reply from authors. (17999697)
2008
5
Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome. (17513505)
2007
6
Intramedullary ependymoma associated with Lhermitte-Duclos disease and Cowden syndrome. (17544575)
2007
7
Cowden disease: a review. (17394437)
2007
8
Pten loss in the mouse thyroid causes goiter and follicular adenomas: insights into thyroid function and Cowden disease pathogenesis. (17283127)
2007
9
PTEN catalysis of phospholipid dephosphorylation reaction follows a two-step mechanism in which the conserved aspartate-92 does not function as the general acid--mechanistic analysis of a familial Cowden disease-associated PTEN mutation. (17324556)
2007
10
What is your diagnosis? Cowden disease (multiple hamartoma syndrome). (16903316)
2006
11
Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature. (16459996)
2006
12
Cowden disease: CT findings in three patients. (15812679)
2005
13
Cowden disease with Lhermitte-Duclos disease: case report. (15595264)
2004
14
Identification of germline mutation of PTEN gene and analysis of apoptosis resistance of the lymphocytes in a patient with Cowden disease. (12415190)
2002
15
Activation of a cryptic splice site of PTEN and loss of heterozygosity in benign skin lesions in Cowden disease. (11886535)
2001
16
Breast cancer, Cowden disease and PTEN-MATCHS syndrome. (11520097)
2001
17
Cowden disease and the PTEN gene: a successfully clinical and biological combined approach]. (11792608)
2001
18
Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease. (10920277)
2000
19
Cowden disease]. (10921327)
2000
20
Lhermitte duclos disease and Cowden disease: clinical, pathological and neuroimaging study of a case. (11327294)
2000
21
A novel 5' (4041insA) mutation in a patient with numerous manifestations of Cowden disease. (10777358)
2000
22
Cowden disease and Lhermitte Duclos disease, markers of breast carcinoma: report of two patients. (10586343)
1999
23
Transcatheter embolization of arteriovenous malformations in Cowden disease. (10475785)
1999
24
Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. (9915974)
1999
25
Cowden disease: a cutaneous marker for increased risk of breast cancer. (9930780)
1999
26
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. (10234502)
1999
27
Filiform polyposis of the small bowel in a patient with multiple hamartoma syndrome (Cowden disease). (10430165)
1999
28
Identification of a novel PTEN mutation (L139X) in a patient with Cowden disease and SjAPgren's syndrome. (10193515)
1998
29
Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation. (9443042)
1998
30
Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease. (9797362)
1998
31
Sporadic breast cancers exhibit loss of heterozygosity on chromosome segment 10q23 close to the Cowden disease locus. (9491329)
1998
32
Lack of chromosome 15q11-q13 region involvement in a family with Cowden disease/Bannayan-Zonana syndrome. (9853579)
1998
33
Allele loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q. (9242220)
1997
34
Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis. (9399897)
1997
35
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. (9140396)
1997
36
Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors. (9354427)
1997
37
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. (9259288)
1997
38
Loss of heterozygosity in human breast carcinomas in the ataxia telangiectasia, Cowden disease and BRCA1 gene regions. (9018120)
1997
39
Lhermitte-Duclos disease associated with Cowden disease. (9384805)
1997
40
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease). (7964980)
1994
41
Association of Lhermitte-Duclos and Cowden disease: report of a new case and review of the literature. (8006650)
1994
42
Lhermitte-Duclos disease and Cowden disease: a third case. (1642466)
1992
43
Lhermitte-Duclos disease and Cowden disease: a single phakomatosis. (1859181)
1991
44
Cowden disease (multiple hamartoma syndrome). (2385806)
1990
45
Cowden disease. A hereditary polyposis syndrome diagnosable by mucocutaneous inspection. (3782758)
1986
46
Radiological findings in multiple hamartoma syndrome (Cowden disease): a report of three cases. (7433661)
1980
47
Case of the summer season. Diagnosis: Cowden disease (multiple hamartoma syndrome). (7403890)
1980
48
Cowden disease. (1156682)
1975
49
Cowden disease. Report of two additional cases. (1191539)
1975
50
Multiple hamartoma syndrome (Cowden disease). (4819107)
1974

Genetic Variations for Cowden Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cowden Disease:

62 (show all 26)
id Symbol AA change Variation ID SNP ID
1PTENp.Ile67ArgVAR_007461
2PTENp.Tyr68HisVAR_007462
3PTENp.His123ArgVAR_007463
4PTENp.Cys124ArgVAR_007464
5PTENp.Gly129GluVAR_007465
6PTENp.Arg130LeuVAR_007467
7PTENp.Arg130GlnVAR_007468
8PTENp.Leu112ProVAR_007807
9PTENp.Leu112ProVAR_007807
10PTENp.Cys136TyrVAR_007808
11PTENp.Met35ArgVAR_008036
12PTENp.Gly165ValVAR_008738
13PTENp.Gly165GluVAR_008739
14PTENp.Pro246LeuVAR_008740
15PTENp.Lys289GluVAR_008741
16PTENp.Val343GluVAR_008742
17PTENp.Phe347LeuVAR_008743
18PTENp.Arg47GlyVAR_011587
19PTENp.Leu70ProVAR_018102
20PTENp.Cys124SerVAR_018104
21PTENp.Cys71TyrVAR_026254
22PTENp.His93TyrVAR_026255
23PTENp.Tyr155CysVAR_026263
24PTENp.Asp331GlyVAR_026275
25PTENp.Phe341ValVAR_026276
26PTENp.Lys342AsnVAR_026277

Expression for genes affiliated with Cowden Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cowden Disease

Search GEO for disease gene expression data for Cowden Disease.

Pathways for genes affiliated with Cowden Disease

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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 55SinoBiological, 51QIAGEN, 59Tocris Bioscience, 4Cell Signaling Technology, 49PharmGKB, 52R&D Systems
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Pathways related to Cowden Disease according to GeneCards/GeneDecks:

(show all 42)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0TSC2, AKT2
29.9SMAD4, PTEN, BRCA1
3
Hide members
9.9BRCA1, PTEN, TSC2
49.9BRCA1, TSC2, SMAD4
5
Hide members
9.9PIK3CA, MINPP1, PTEN
69.9PIK3CA, AKT2, PTEN
79.9TSC2, TSC1, AKT2
8
Development Leptin signaling via PI3K-dependent pathway
Hide members
9.9AKT2, STK11, PIK3CA
9
Hide members
9.9PTEN, AKT2, BRCA1
10
Hide members
9.9BMPR1A, PIK3CA, AKT2
11
Immune response IL-2 activation and signaling pathway
Hide members
9.8SMAD4, AKT2, PIK3CA
12
Immune response IFN gamma signaling pathway
Hide members
9.8AKT2, PIK3CA, BRCA1
139.7STK11, AKT2, PTEN, TSC2
14
Hide members
9.7RET, AKT2, PIK3CA
159.7AKT2, PTEN, TSC1, TSC2
169.7TSC2, TSC1, PTEN, AKT2
179.7STK11, AKT2, TSC1, TSC2
18
Hide members
9.7STK11, AKT2, TSC1, TSC2
19
Hide members
9.7PIK3CA, AKT2, PTEN, SMAD4
20
Hide members
9.7PIK3CA, AKT2, PTEN, TSC2
21
Hide members
9.7TSC2, PTEN, AKT2, PIK3CA
22
Transcription Androgen Receptor nuclear signaling
Hide members
9.7PIK3CA, AKT2, PTEN, TSC2
23
Development Endothelin-1/EDNRA signaling
Hide members
9.7PIK3CA, AKT2, PTEN, TSC2
24
Hide members
9.7PIK3CA, AKT2, PTEN, TSC2
25
Hide members
9.6SMAD4, AKT2, PIK3CA, BRCA2
26
Hide members
9.5TSC2, TSC1, PTEN, PIK3CA, BRCA1
27
Hide members
9.5TSC2, TSC1, PTEN, AKT2, BMPR1A
289.5PIK3CA, AKT2, PTEN, TSC1, TSC2
299.5PIK3CA, AKT2, PTEN, TSC1, TSC2
30
Hide members
9.5PIK3CA, AKT2, PTEN, TSC1, TSC2
31
Hide members
9.5PIK3CA, STK11, AKT2, TSC1, TSC2
329.5PIK3CA, STK11, AKT2, TSC1, TSC2
33
Hide members
9.5PIK3CA, AKT2, PTEN, TSC2, SMAD4
349.3STK11, STK11IP, TSC1, TSC2, SMAD4
35
Translation Insulin regulation of translation
Hide members
9.3PIK3CA, STK11, AKT2, PTEN, TSC1, TSC2
369.3BRCA1, BRCA2, PIK3CA, STK11, PTEN, SMAD4
37
Hide members
9.1BRCA1, BMPR1A, STK11, AKT2, PTEN, TSC1
389.1BRCA2, PIK3CA, AKT2, RET, PTEN, SMAD4
399.1BRCA1, PIK3CA, STK11, AKT2, PTEN, TSC1
40
Hide members
9.1BRCA1, BRCA2, PIK3CA, AKT2, PTEN, TSC1
419.0SMAD4, BRCA1, BRCA2, BMPR1A, STK11, PTEN
42
Hide members
9.0BMPR1A, PIK3CA, STK11, AKT2, PTEN, TSC1

Compounds for genes affiliated with Cowden Disease

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44Novoseek, 49PharmGKB, 59Tocris Bioscience, 11DrugBank, 24HMDB, 28IUPHAR, 2BitterDB
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Compounds related to Cowden Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
14-methylumbelliferyl phosphate4410.2DUSP19, CDKN3
2crcs4410.2PIK3CA, PTEN, SMAD4
3cap-p4410.2DUSP19, CDKN3
4cytostatin4410.2DUSP19, CDKN3
5indole-3-carbinol4410.1PTEN, BRCA2, BRCA1
6etoposide44 49 59 1113.1BRCA1, BRCA2, CDKN3
7dinophysistoxin 14410.1CDKN3, DUSP19
8fostriecin4410.0CDKN3, DUSP19
9erlotinib44 49 1112.0PIK3CA, CDKN3, PTEN
10tautomycin4410.0CDKN3, DUSP19
11adpribose4410.0BRCA1, BRCA2, PIK3CA, TEP1
12phosphatidylinositol 3-phosphate449.9PIK3CA, DUSP19, CDKN3, PTEN
13cl 100449.9CDKN3, DUSP19, DUSP13
14mg 13244 5910.9SMAD4, PTEN, DUSP19, BRCA1
15phosphothreonine449.9CDKN3, DUSP19, DUSP13
16phosphatidylinositol-3,4,5-trisphosphate44 2410.8PIK3CA, DUSP19, CDKN3, PTEN
17tamoxifen44 49 28 1112.8PTEN, AKT2, PIK3CA, BRCA2, BRCA1
18agar449.8BRCA1, PIK3CA, RET, PTEN, SMAD4
19phosphoserine44 2410.7BRCA1, DUSP13, DUSP19, CDKN3
20pd 98,059449.7SMAD4, TSC1, PTEN, RET, PIK3CA
21okadaic acid44 5910.7PIK3CA, DUSP19, CDKN3, PTEN, TSC2
22inositol449.7PIK3CA, DUSP19, MINPP1, CDKN3, PTEN
23steroid449.7BRCA1, BRCA2, PIK3CA, TSC2, SMAD4
24glucose449.6PIK3CA, STK11, PTEN, TSC1, TSC2, SMAD4
25calyculin a44 59 1111.6PTEN, CDKN3, DUSP19
26adenosine 5-o-(3-thiotriphosphate)449.6DUSP19, CDKN3
27paclitaxel44 49 1111.6BRCA1, BRCA2, PIK3CA, AKT2, DUSP19, PTEN
28phosphoinositide449.5PIK3CA, DUSP19, CDKN3, PTEN, TSC1, TSC2
29ly294002449.5PIK3CA, AKT2, CDKN3, RET, PTEN, TSC2
30alanine449.3BRCA1, STK11, CDKN3, RET, PTEN, TSC1
31oligonucleotide449.3BRCA1, BRCA2, AKT2, RET, PTEN, SMAD4
32cisplatin44 49 59 1112.3BRCA1, BRCA2, PIK3CA, AKT2, DUSP19, CDKN3
33wortmannin449.2PIK3CA, AKT2, DUSP19, CDKN3, RET, PTEN
34adp44 28 2411.2PTEN, RET, AKT2, STK11, PIK3CA, BMPR1A
35genistein44 28 59 2 11 2414.2BRCA1, BRCA2, PIK3CA, DUSP19, CDKN3, RET
36rapamycin449.2PIK3CA, STK11, AKT2, DUSP19, CDKN3, PTEN
37glycogen44 2410.2PIK3CA, STK11, AKT2, DUSP19, CDKN3, PTEN
38h2o2449.2BRCA1, BRCA2, PIK3CA, DUSP13, DUSP19, CDKN3
39testosterone44 59 11 2412.1BRCA1, BRCA2, PIK3CA, CDKN3, RET, PTEN
40phosphotyrosine449.1BRCA1, PIK3CA, DUSP13, DUSP19, CDKN3, RET
41arginine449.1PIK3CA, DUSP13, RET, PTEN, TSC2, SMAD4
42paraffin449.0BRCA1, BRCA2, STK11, RET, TEP1, PTEN
43atp44 2810.0BRCA1, PIK3CA, STK11, DUSP19, CDKN3, RET
44vegf449.0BRCA1, PIK3CA, STK11, CDKN3, RET, PTEN
45retinoic acid44 249.9BRCA1, BRCA2, PIK3CA, DUSP19, CDKN3, RET
46lipid448.7BRCA1, PIK3CA, STK11, AKT2, DUSP13, DUSP19
47tyrosine448.3BRCA1, PIK3CA, AKT2, DUSP13, DUSP19, CDKN3
48phosphatidylinositol448.3AKT2, PIK3CA, BRCA2, BRCA1, DUSP13, DUSP19
49threonine448.2SMAD4, BMPR1A, PIK3CA, STK11, AKT2, DUSP13
50serine448.0AKT2, STK11, PIK3CA, BMPR1A, BRCA1, DUSP13

GO Terms for genes affiliated with Cowden Disease

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16Gene Ontology
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Cellular components related to Cowden Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:0335969.8TSC2, TSC1
2protein complexGO:0432349.7TSC1, STK11, BRCA2, BRCA1

Biological processes related to Cowden Disease according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell sizeGO:04579210.2TSC2, TSC1, PTEN
2positive regulation of SMAD protein import into nucleusGO:06039110.1SMAD4, BMPR1A
3protein kinase B signaling cascadeGO:04349110.1TSC2, PTEN, PIK3CA
4protein heterooligomerizationGO:05129110.1TSC2, TSC1, STK11
5DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00697810.0BRCA2, BRCA1
6negative regulation of phosphatidylinositol 3-kinase cascadeGO:01406710.0PTEN, TSC2
7cell cycle arrestGO:0070509.8STK11, CDKN3, TSC1, TSC2
8insulin receptor signaling pathwayGO:0082869.7PIK3CA, STK11, AKT2, TSC1, TSC2
9negative regulation of cell proliferationGO:0082859.5STK11, CDKN3, PTEN, TSC1, TSC2, SMAD4
10positive regulation of transcription, DNA-dependentGO:0458939.4BRCA1, BRCA2, BMPR1A, RET, SMAD4
11protein dephosphorylationGO:0064709.4PTEN, DUSP19, DUSP13

Molecular functions related to Cowden Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein kinase activator activityGO:0302959.9DUSP19, STK11, PIK3CA
2protein tyrosine/serine/threonine phosphatase activityGO:0081389.6PTEN, CDKN3, DUSP13
3protein tyrosine phosphatase activityGO:0047259.4DUSP13, DUSP19, CDKN3, PTEN
4protein serine/threonine kinase activityGO:0046749.4BMPR1A, PIK3CA, STK11, AKT2
5protein bindingGO:0055157.9BRCA2, BMPR1A, PIK3CA, STK11, AKT2, CDKN3

Products for genes affiliated with Cowden Disease

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Sources for Cowden Disease

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet