CD
MCID: CWD001
MIFTS: 71

Cowden Disease (CD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Cowden Disease

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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 based summary: Cowden Disease, also known as multiple hamartoma syndrome, is related to lipomatosis and proteus syndrome. An important gene associated with Cowden Disease is PTEN (phosphatase and tensin homolog), and among its related pathways are Homologous Recombination Repair and Glioblastoma Multiforme. The compounds everolimus and 4-methylumbelliferyl phosphate have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, breast and thyroid, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

Genetics Home Reference:22 Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

CDC:4 CDC Centers for Disease Control and Prevention - Your Online Source for Credible Health

Wikipedia:64 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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Cowden Disease, Aliases & Descriptions:

Name: Cowden Disease 9 42 22 11 44
Multiple Hamartoma Syndrome 9 64 42 22
Cowden's Disease 42 21 23 22
Cowden Syndrome 9 64 42 22
Lhermitte-Duclos Disease 9 42 61
Mham 64 42 22
Dysplastic Gangliocytoma of the Cerebellum 42 61
 
Dysplastic Gangliocytoma of Cerebellum 9 61
Cd 42 22
Cs 42 22
Hamartoma Syndrome, Multiple 61
Lhermitte-Duclos Syndrome 46
Cowden's Syndrome 22


Classifications:



External Ids:

Disease Ontology9 DOID:6457
NCIt39 C3076, C8419
SNOMED-CT56 67944007, 58037000
MeSH34 D006223
OMIM46 158350

Related Diseases for Cowden Disease

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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 303)
idRelated DiseaseScoreTop Affiliating Genes
1lipomatosis30.9PTEN
2proteus syndrome30.9PTEN, CDKN3
3cowden syndrome 130.8PTEN
4neurofibromatosis30.7RET, TSC1, TSC2, BRCA2
5bannayan-riley-ruvalcaba syndrome30.7CDKN3, PTEN
6breast cancer30.7PIK3CA, BRCA1, BRCA2
7juvenile polyposis syndrome30.6SMAD4, BMPR1A
8carney complex30.6LYPD1
9bilateral breast cancer30.5BRCA2, BRCA1
10male breast cancer30.5BRCA2, BRCA1
11dysgerminoma30.5BRCA2, BRCA1
12melanoma30.5DUSP19, PIK3CA, PTEN, BRCA2, TSC2, STK11
13li-fraumeni syndrome30.5BRCA1, BRCA2, PTEN
14lipoma30.4PTEN, DUSP19
15insulin resistance30.4CDKN3, TSC1, PIK3CA, TSC2, DUSP19
16familial adenomatous polyposis30.4STK11, BRCA1, SMAD4
17cushing's syndrome30.4CALCA, RET, CNC2
18lynch syndrome30.4BRCA2, BRCA1
19glioblastoma30.3DUSP19, PTEN, CDKN3, PIK3CA, SMAD4
20astrocytoma30.3CDKN3, PIK3CA, PTEN, BRCA1, STK11, TSC1
21kidney cancer30.3TSC2, PIK3CA, TSC1, RET
22colorectal cancer30.2STK11, SMAD4, PIK3CA, PTEN, DUSP19
23follicular adenoma30.1RET, PTEN, CALCA
24endometrial carcinoma30.1PIK3CA, CDKN3, PTEN, BRCA2, BRCA1
25ischemia30.1CDKN3, PIK3CA, DUSP19, STK11
26ataxia telangiectasia30.0CDKN3, STK11, BRCA2, BRCA1, PIK3CA
27ovarian cancer29.9BRCA2, CDKN3, SMAD4, PIK3CA, BRCA1, PTEN
28adenocarcinoma29.6TSC2, STK11, TSC1, SMAD4, PTEN, PIK3CA
29peutz-jeghers syndrome29.6CNC2, CDKN3, BMPR1A, STK11, TSC1, TSC2
30adenoma29.3CNC2, SMAD4, BRCA1, TSC1, RET, STK11
31prostate cancer29.0CDKN3, BRCA2, BRCA1, PIK3CA, SMAD4, PTEN
32medulloblastoma10.6
33breast-ovarian cancer, familial, 110.5BRCA2
34vipoma10.5SMAD4
35cerebral cavernous malformation10.5PTEN, CDKN3
36adult medulloblastoma10.5
37leopard syndrome10.5CDKN3
38kidney angiomyolipoma10.4TSC2, TSC1
39holoprosencephaly10.4
40renal agenesis10.4
41tuberous sclerosis complex10.4TSC1, TSC2
42intestinal obstruction10.4RET
43infantile epileptic encephalopathy10.4TSC1, TSC2
44cockayne syndrome type i10.4
45telangiectasia, hereditary hemorrhagic, type 510.4BMPR1A, SMAD4
46subependymal giant cell astrocytoma10.4TSC1, TSC2
47cystic kidney10.4TSC2, TSC1
48brca1 and brca2 hereditary breast and ovarian cancer10.4BRCA2, BRCA1
49lymphangioleiomyomatosis10.4TSC1, TSC2
50peritoneal carcinoma10.4BRCA1, BRCA2

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



Diseases related to cowden disease

Symptoms for Cowden Disease

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Clinical features from OMIM:

158350

Drugs & Therapeutics for Cowden Disease

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Drug clinical trials:

Search ClinicalTrials for Cowden Disease

Search NIH Clinical Center for Cowden Disease

Genetic Tests for Cowden Disease

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Genetic tests related to Cowden Disease:

id Genetic test Affiliating Genes
1 Cowden Syndrome21 23 PTEN

Anatomical Context for Cowden Disease

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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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MGI Mouse Phenotypes related to Cowden Disease:

36 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9PTEN, BRCA2, BRCA1, RET, BMPR1A
2MP:00053818.9SMAD4, PTEN, BRCA2, BRCA1, RET, STK11
3MP:00053908.8CALCA, BMPR1A, TSC1, BRCA1, BRCA2, PTEN
4MP:00053888.8PTEN, BRCA1, TSC1, RET, STK11, BMPR1A
5MP:00053698.8PIK3CA, SMAD4, PTEN, BRCA1, TSC1, RET
6MP:00053978.4SMAD4, PTEN, BRCA2, BRCA1, TSC2, RET
7MP:00028738.3SMAD4, PTEN, BRCA2, BRCA1, TSC2, RET
8MP:00053798.2BRCA2, PTEN, SMAD4, PIK3CA, BRCA1, TSC2
9MP:00053678.2SMAD4, TNS1, PTEN, BRCA1, TSC2, TSC1
10MP:00107718.1BRCA2, PTEN, SMAD4, PIK3CA, BRCA1, TSC2
11MP:00053788.1BRCA2, PTEN, SMAD4, PIK3CA, BRCA1, TSC2
12MP:00053878.0PIK3CA, SMAD4, TNS1, PTEN, BRCA2, BRCA1
13MP:00020067.9CALCA, PIK3CA, SMAD4, PTEN, BRCA2, BRCA1
14MP:00053807.9PIK3CA, SMAD4, PTEN, BRCA2, BRCA1, TSC2
15MP:00053767.8PIK3CA, SMAD4, PTEN, BRCA2, BRCA1, TSC2
16MP:00107687.8BRCA2, PTEN, SMAD4, PIK3CA, BRCA1, TSC2
17MP:00053897.7PTEN, TNS1, SMAD4, PIK3CA, BRCA2, BRCA1
18MP:00053857.7PTEN, TNS1, SMAD4, PIK3CA, BRCA1, TSC2
19MP:00053847.7PIK3CA, SMAD4, TNS1, PTEN, BRCA2, BRCA1
20MP:00036317.1BRCA1, BRCA2, PTEN, SMAD4, PIK3CA, TSC2
21MP:00053866.6BRCA2, PTEN, TNS1, SMAD4, PIK3CA, BRCA1

Publications for Cowden Disease

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Articles related to Cowden Disease:

(show top 50)    (show all 81)
idTitleAuthorsYear
1
Postoperative Dural Arteriovenous Fistula in a Patient with Cowden Disease: A Case Report. (23680687)
2013
2
Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach. (18456716)
2008
3
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view. (18986487)
2008
4
Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome. (17513505)
2007
5
Testicular mixed germ cell tumor in an adolescent with cowden disease. (18160807)
2007
6
Cowden disease: a review. (17394437)
2007
7
Pten loss in the mouse thyroid causes goiter and follicular adenomas: insights into thyroid function and Cowden disease pathogenesis. (17283127)
2007
8
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
9
Type 2 segmental Cowden disease vs. Proteus syndrome. (17388921)
2007
10
Multiple hyperechoic testicular lesions are a common finding on ultrasound in Cowden disease and represent lipomatosis of the testis. (16980675)
2006
11
Cowden disease: CT findings in three patients. (15812679)
2005
12
Cowden disease in a family: a clinical and genetic diagnosis. (16021145)
2005
13
Cowden disease with Lhermitte-Duclos disease: case report. (15595264)
2004
14
Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. (12560928)
2003
15
Identification of germline mutation of PTEN gene and analysis of apoptosis resistance of the lymphocytes in a patient with Cowden disease. (12415190)
2002
16
Cowden disease or multiple hamartoma syndrome--cutaneous clue to internal malignancy. (12370126)
2002
17
Activation of a cryptic splice site of PTEN and loss of heterozygosity in benign skin lesions in Cowden disease. (11886535)
2001
18
Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease. (10920277)
2000
19
Cowden disease]. (10921327)
2000
20
A novel PTEN mutation in a Japanese patient with Cowden disease. (10848731)
2000
21
Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. (10690726)
2000
22
Cowden disease and Lhermitte Duclos disease, markers of breast carcinoma: report of two patients. (10586343)
1999
23
A novel germline mutation of the PTEN/MMAC1 gene in a patient with Cowden disease. (10606430)
1999
24
Transcatheter embolization of arteriovenous malformations in Cowden disease. (10475785)
1999
25
Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer. (10507734)
1999
26
Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. (9915974)
1999
27
Germline mutations of the PTEN/MMAC1 gene in Japanese patients with Cowden disease. (9685848)
1998
28
Identification of a novel PTEN mutation (L139X) in a patient with Cowden disease and SjAPgren's syndrome. (10193515)
1998
29
A heterozygous germline mutation of the PTEN/MMAC1 gene in a patient with Cowden disease. (9852263)
1998
30
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
31
Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease. (9797362)
1998
32
Sporadic breast cancers exhibit loss of heterozygosity on chromosome segment 10q23 close to the Cowden disease locus. (9491329)
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
Localization of the gene for Cowden disease to chromosome 10q22-23. (8673088)
1996
38
Early diagnosis of multiple hamartoma and neoplasia syndrome (Cowden disease). The role of the dentist. (7621006)
1995
39
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease). (7964980)
1994
40
Association of Lhermitte-Duclos and Cowden disease: report of a new case and review of the literature. (8006650)
1994
41
Lhermitte-Duclos disease and Cowden disease: a third case. (1642466)
1992
42
Lhermitte-Duclos disease and Cowden disease: a single phakomatosis. (1859181)
1991
43
Cowden disease (multiple hamartoma syndrome). (2385806)
1990
44
Cowden disease in a young girl: gynecologic and immunologic overview in a case and in the literature. (2649833)
1989
45
Cowden disease. A hereditary polyposis syndrome diagnosable by mucocutaneous inspection. (3782758)
1986
46
Cowden disease: gene marker studies and measurements of epidermal growth factor. (3487976)
1986
47
Radiological findings in multiple hamartoma syndrome (Cowden disease): a report of three cases. (7433661)
1980
48
Radiologic manifestations of Cowden disease. (6773349)
1980
49
The association of myasthenia gravis with multiple hamartoma syndrome (Cowden disease) (7436365)
1980
50
Cowden disease. (1156682)
1975

Variations for Cowden Disease

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UniProtKB/Swiss-Prot genetic disease variations for Cowden Disease:

63 (show all 25)
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.Cys136TyrVAR_007808
10PTENp.Met35ArgVAR_008036
11PTENp.Gly165ValVAR_008738
12PTENp.Gly165GluVAR_008739
13PTENp.Pro246LeuVAR_008740
14PTENp.Lys289GluVAR_008741
15PTENp.Val343GluVAR_008742
16PTENp.Phe347LeuVAR_008743
17PTENp.Arg47GlyVAR_011587
18PTENp.Leu70ProVAR_018102
19PTENp.Cys124SerVAR_018104
20PTENp.Cys71TyrVAR_026254
21PTENp.His93TyrVAR_026255
22PTENp.Tyr155CysVAR_026263
23PTENp.Asp331GlyVAR_026275
24PTENp.Phe341ValVAR_026276
25PTENp.Lys342AsnVAR_026277

Clinvar genetic disease variations for Cowden Disease:

7 (show all 17)
id Gene Name Type Significance SNP ID Assembly Location
1PTENNM_000314.4(PTEN): c.386G> A (p.Gly129Glu)single nucleotide variantPathogenicrs121909218GRCh37Chr 10, 89692902: 89692902
2PTENNM_000314.4(PTEN): c.697C> T (p.Arg233Ter)single nucleotide variantPathogenicrs121909219GRCh37Chr 10, 89717672: 89717672
3PTENNM_000314.4(PTEN): c.368A> G (p.His123Arg)single nucleotide variantPathogenicrs121909222GRCh37Chr 10, 89692884: 89692884
4PTENNM_000314.4(PTEN): c.370T> C (p.Cys124Arg)single nucleotide variantPathogenicrs121909223GRCh37Chr 10, 89692886: 89692886
5PTENNM_000314.4(PTEN): c.347_351delACAAT (p.Asp116Alafs)deletionPathogenicGRCh37Chr 10, 89692863: 89692867
6PTENNM_000314.4(PTEN): c.388C> T (p.Arg130Ter)single nucleotide variantPathogenicrs121909224GRCh37Chr 10, 89692904: 89692904
7PTENNM_000314.4(PTEN): c.492+2T> Gsingle nucleotide variantPathogenicGRCh37Chr 10, 89693010: 89693010
8PTENNM_000314.4(PTEN): c.696delA (p.Arg233Aspfs)deletionPathogenicGRCh37Chr 10, 89717671: 89717671
9PTENNM_000314.4(PTEN): c.104T> G (p.Met35Arg)single nucleotide variantPathogenicrs121909225GRCh37Chr 10, 89653806: 89653806
10PTENNM_000314.4(PTEN): c.209T> C (p.Leu70Pro)single nucleotide variantPathogenicrs121909226GRCh37Chr 10, 89685314: 89685314
11PTENNM_000314.4(PTEN): c.389G> A (p.Arg130Gln)single nucleotide variantPathogenicrs121909229GRCh37Chr 10, 89692905: 89692905
12PTENNM_000314.4(PTEN): c.1003C> T (p.Arg335Ter)single nucleotide variantPathogenicrs121909231GRCh37Chr 10, 89720852: 89720852
13PTENNM_000314.4(PTEN): c.40dupA (p.Arg14Lysfs)duplicationPathogenicGRCh38Chr 10, 87864509: 87864509
14PTENPTEN, CYS124SERundetermined variantPathogenic
15PTENNM_000314.4(PTEN): c.802delG (p.Asp268Thrfs)deletionPathogenicGRCh37Chr 10, 89720651: 89720651
16PTENNM_000314.4(PTEN): c.-764G> Asingle nucleotide variantPathogenicGRCh37Chr 10, 89623462: 89623462
17PTENNM_000314.4(PTEN): c.-861G> Tsingle nucleotide variantPathogenicGRCh38Chr 10, 87863608: 87863608

Expression for genes affiliated with Cowden Disease

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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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Pathways related to Cowden Disease according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9BRCA1, BRCA2
29.8TSC2, TSC1, PTEN
39.8TSC1, TSC2, PTEN
4
Show member pathways
9.8STK11, TSC1, TSC2
5
Show member pathways
Translation Non genomic rapid action of Androgen Receptor59
9.7PIK3CA, PTEN, TSC2
69.7PTEN, BRCA1, SMAD4
7
Show member pathways
DNA damage response37
9.7BRCA1, PTEN, TSC2
89.7SMAD4, BRCA1, TSC2
9
Show member pathways
9.6BRCA2, PIK3CA, SMAD4
10
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
9.5PIK3CA, STK11, SMAD4, PTEN
119.5TSC2, TSC1, SMAD4, STK11
129.5PIK3CA, PTEN, TSC1, TSC2
13
Show member pathways
Immune response IL 4 signaling pathway59
Signal transduction AKT signaling59
9.5PIK3CA, PTEN, TSC2, TSC1
149.5PIK3CA, PTEN, TSC2, TSC1
15
Show member pathways
9.5PIK3CA, TSC2, TSC1, STK11
169.5TSC1, TSC2, STK11, PIK3CA
17
Show member pathways
Signal transduction PTEN pathway59
9.5TSC2, PTEN, SMAD4, PIK3CA
18
Show member pathways
Transcription Receptor mediated HIF regulation59
Development CNTF receptor signaling59
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades59
Translation Regulation activity of EIF259
Regulation of lipid metabolism Insulin signaling generic cascades59
Transcription PPAR Pathway59
Cell adhesion PLAU signaling59
Translation Regulation activity of EIF4F59
9.3PTEN, STK11, TSC1, TSC2, PIK3CA
19
Show member pathways
Prostate Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
9.2PTEN, BRCA1, TSC2, PIK3CA, TSC1
209.2PTEN, SMAD4, PIK3CA, RET, BRCA2
21
Show member pathways
9.0PTEN, BMPR1A, STK11, TSC1, TSC2, BRCA1
229.0BRCA1, PTEN, TSC2, TSC1, PIK3CA, STK11
238.9SMAD4, PIK3CA, PTEN, BRCA2, BRCA1, STK11
24
Show member pathways
Signaling Pathways in Glioblastoma37
8.9PIK3CA, BRCA2, TSC2, TSC1, BRCA1, PTEN
258.5PTEN, BRCA2, BRCA1, SMAD4, TSC2, TSC1
26
Show member pathways
8.5BMPR1A, CALCA, PIK3CA, STK11, PTEN, SMAD4

Compounds for genes affiliated with Cowden Disease

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Compounds related to Cowden Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1everolimus44 50 1212.1PIK3CA, TSC2, TSC1
24-methylumbelliferyl phosphate449.9CDKN3, DUSP19
3crcs449.9PTEN, SMAD4, PIK3CA
4cap-p449.8DUSP19, CDKN3
5cytostatin449.8DUSP19, CDKN3
6sodium fluoride449.7DUSP19, CALCA, CDKN3
7indole-3-carbinol449.7BRCA1, BRCA2, PTEN
8dinophysistoxin 1449.7CDKN3, DUSP19
9phosphatidylinositol 3-phosphate449.6PIK3CA, PTEN, DUSP19, CDKN3
10vincristine44 50 1211.6PTEN, BRCA2, BRCA1, CALCA
11erlotinib44 50 1211.6CDKN3, PTEN, PIK3CA
12pd 98,059449.6RET, TSC1, PTEN, SMAD4, PIK3CA
13agar449.6PIK3CA, SMAD4, PTEN, BRCA1, RET
14mg 13244 6010.5SMAD4, PTEN, BRCA1, DUSP19
15phosphatidylinositol-3,4,5-trisphosphate44 2510.5PIK3CA, PTEN, DUSP19, CDKN3
16inositol449.4CDKN3, DUSP19, PTEN, PIK3CA
17ly294002449.4PIK3CA, PTEN, TSC2, RET, CDKN3
18cl 100449.4CDKN3, DUSP13, DUSP19
19etoposide44 50 60 1212.4CDKN3, BRCA1, BRCA2, PTEN, PIK3CA
20phosphothreonine449.3CDKN3, DUSP13, DUSP19
21okadaic acid44 6010.3PIK3CA, PTEN, DUSP19, TSC2, CDKN3
22paclitaxel44 50 1211.3PIK3CA, PTEN, BRCA2, BRCA1, DUSP19
23fluoride449.2DUSP19, CALCA, CDKN3
24phosphoserine44 2510.2BRCA1, DUSP19, DUSP13, CDKN3
25steroid449.1PIK3CA, SMAD4, PTEN, BRCA2, BRCA1, TSC2
26phosphoinositide449.1PIK3CA, PTEN, DUSP19, TSC2, TSC1, CDKN3
27wortmannin449.1PIK3CA, PTEN, DUSP19, TSC2, RET, CDKN3
28alanine449.1SMAD4, PTEN, BRCA1, TSC1, RET, STK11
29cyclic amp44 2510.0PTEN, DUSP19, RET, STK11, CNC2, CALCA
30cisplatin44 50 60 1212.0PIK3CA, PTEN, BRCA2, BRCA1, DUSP19, CDKN3
31adenylate449.0CDKN3, CALCA, STK11, TSC2, DUSP19, PIK3CA
32rapamycin448.9PIK3CA, PTEN, DUSP19, TSC2, TSC1, STK11
33leucine448.9RET, TSC2, PTEN, SMAD4, PIK3CA
34glycogen44 259.9PIK3CA, PTEN, DUSP19, TSC2, TSC1, STK11
35paraffin448.9SMAD4, PTEN, BRCA2, BRCA1, TSC2, TSC1
36arginine448.8PIK3CA, SMAD4, PTEN, DUSP13, TSC2, RET
37genistein44 29 60 3 25 1213.8PIK3CA, PTEN, BRCA2, BRCA1, DUSP19, RET
38retinoic acid44 259.7PIK3CA, PTEN, BRCA2, BRCA1, DUSP19, RET
39atp44 299.6PIK3CA, PTEN, BRCA1, DUSP19, TSC2, RET
40phosphotyrosine448.5PIK3CA, PTEN, BRCA1, DUSP19, DUSP13, RET
41h2o2448.4PIK3CA, PTEN, BRCA2, BRCA1, DUSP19, DUSP13
42lipid448.3PIK3CA, PTEN, BRCA1, DUSP19, DUSP13, TSC2
43testosterone44 60 25 1211.3PIK3CA, SMAD4, PTEN, BRCA2, BRCA1, TSC2
44vegf448.2BRCA1, PTEN, SMAD4, PIK3CA, TSC2, TSC1
45estrogen448.1PIK3CA, SMAD4, PTEN, BRCA2, BRCA1, DUSP19
46calcium44 50 25 1210.8PIK3CA, PTEN, BRCA1, DUSP19, DUSP13, RET
47tyrosine447.7PIK3CA, SMAD4, PTEN, BRCA1, DUSP19, DUSP13
48phosphatidylinositol447.7BRCA1, BRCA2, PTEN, PIK3CA, DUSP19, DUSP13
49threonine447.6CDKN3, PIK3CA, SMAD4, PTEN, DUSP19, DUSP13
50serine447.3DUSP19, BRCA1, PTEN, SMAD4, PIK3CA, DUSP13

GO Terms for genes affiliated with Cowden Disease

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Cellular components related to Cowden Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:03359610.0TSC1, TSC2
2cytoplasmGO:0057376.1CDKN3, SMAD4, TNS1, PTEN, BRCA2, BRCA1

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of phosphatidylinositol 3-kinase signalingGO:01406710.2TSC2, PTEN
2positive regulation of SMAD protein import into nucleusGO:06039110.2BMPR1A, SMAD4
3negative regulation of cell sizeGO:04579210.1PTEN, TSC2, TSC1
4protein heterooligomerizationGO:05129110.0TSC2, TSC1, STK11
5T cell receptor signaling pathwayGO:05085210.0STK11, PTEN, PIK3CA
6protein kinase B signalingGO:04349110.0TSC2, PTEN, PIK3CA
7DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00697810.0BRCA1, BRCA2
8response to painGO:04826510.0CALCA, RET
9endothelial cell migrationGO:04354210.0CALCA, PTEN, PIK3CA
10vasculature developmentGO:00194410.0CALCA, STK11, PIK3CA
11negative regulation of TOR signalingGO:0320079.9TSC1, TSC2
12insulin receptor signaling pathwayGO:0082869.8PIK3CA, TSC2, TSC1, STK11
13phosphatidylinositol-mediated signalingGO:0480159.7PIK3CA, PTEN, TSC2
14fibroblast growth factor receptor signaling pathwayGO:0085439.7TSC2, PTEN, PIK3CA
15positive regulation of transforming growth factor beta receptor signaling pathwayGO:0305119.7STK11, SMAD4
16cell cycle arrestGO:0070509.7TSC2, TSC1, STK11, CDKN3
17protein phosphorylationGO:0064689.6RET, STK11, BMPR1A, CALCA
18protein dephosphorylationGO:0064709.5PTEN, DUSP19, DUSP13
19positive regulation of transcription, DNA-templatedGO:0458939.4BMPR1A, RET, BRCA1, BRCA2, SMAD4
20negative regulation of cell proliferationGO:0082859.3CDKN3, STK11, TSC1, TSC2, PTEN, SMAD4

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

idNameGO IDScoreTop Affiliating Genes
1protein kinase activator activityGO:0302959.5PIK3CA, DUSP19, STK11
2protein tyrosine/serine/threonine phosphatase activityGO:0081389.3CDKN3, DUSP13, PTEN
3protein tyrosine phosphatase activityGO:0047258.6CDKN3, DUSP13, DUSP19, PTEN
4protein bindingGO:0055156.7CDKN3, PIK3CA, SMAD4, TNS1, PTEN, BRCA2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
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29IUPHAR
30KEGG
34MeSH
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36MGI
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44Novoseek
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61UMLS
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