MCID: BMP001
MIFTS: 15

Bmpr1a-Related Juvenile Polyposis malady

Genetic diseases, Gastrointestinal diseases, Cancer diseases, Rare diseases categories

Aliases & Classifications for Bmpr1a-Related Juvenile Polyposis

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Aliases & Descriptions for Bmpr1a-Related Juvenile Polyposis:

Name: Bmpr1a-Related Juvenile Polyposis 22 65


Classifications:



Summaries for Bmpr1a-Related Juvenile Polyposis

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MalaCards based summary: Bmpr1a-Related Juvenile Polyposis is related to juvenile overlap myositis and braf-related cardiofaciocutaneous syndrome. An important gene associated with Bmpr1a-Related Juvenile Polyposis is BMPR1A (Bone Morphogenetic Protein Receptor, Type IA), and among its related pathways are Hippo signaling pathway and Integrated Breast Cancer Pathway.

Related Diseases for Bmpr1a-Related Juvenile Polyposis

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Diseases in the Juvenile Polyposis of Infancy family:

bmpr1a-related juvenile polyposis Smad4-Related Juvenile Polyposis

Diseases related to Bmpr1a-Related Juvenile Polyposis via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1juvenile overlap myositis9.9BMPR1A, SMAD4
2braf-related cardiofaciocutaneous syndrome9.8BMPR1A, SMAD4
3protein r deficiency9.8BMPR1A, SMAD4
4deep leiomyoma9.8BMPR1A, SMAD4
5bannayan-riley-ruvalcaba syndrome9.8BMPR1A, SMAD4
6hyperinsulinism-hyperammonemia syndrome9.7BMPR1A, SMAD4

Graphical network of diseases related to Bmpr1a-Related Juvenile Polyposis:



Diseases related to bmpr1a-related juvenile polyposis

Symptoms for Bmpr1a-Related Juvenile Polyposis

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Drugs & Therapeutics for Bmpr1a-Related Juvenile Polyposis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Bmpr1a-Related Juvenile Polyposis

Genetic Tests for Bmpr1a-Related Juvenile Polyposis

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Genetic tests related to Bmpr1a-Related Juvenile Polyposis:

id Genetic test Affiliating Genes
1 Bmpr1a-Related Juvenile Polyposis22 BMPR1A

Anatomical Context for Bmpr1a-Related Juvenile Polyposis

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Animal Models for Bmpr1a-Related Juvenile Polyposis or affiliated genes

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MGI Mouse Phenotypes related to Bmpr1a-Related Juvenile Polyposis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Bmpr1a-Related Juvenile Polyposis

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Articles related to Bmpr1a-Related Juvenile Polyposis:

idTitleAuthorsYear
1
Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. (16152648)
2005

Variations for Bmpr1a-Related Juvenile Polyposis

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Expression for genes affiliated with Bmpr1a-Related Juvenile Polyposis

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Search GEO for disease gene expression data for Bmpr1a-Related Juvenile Polyposis.

Pathways for genes affiliated with Bmpr1a-Related Juvenile Polyposis

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GO Terms for genes affiliated with Bmpr1a-Related Juvenile Polyposis

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Biological processes related to Bmpr1a-Related Juvenile Polyposis according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1endoderm developmentGO:00074929.7BMPR1A, SMAD4
2positive regulation of SMAD protein import into nucleusGO:00603919.7BMPR1A, SMAD4
3positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.6BMPR1A, SMAD4
4embryonic digit morphogenesisGO:00427339.4BMPR1A, SMAD4
5developmental growthGO:00485899.4BMPR1A, SMAD4
6anterior/posterior pattern specificationGO:00099529.4BMPR1A, SMAD4
7in utero embryonic developmentGO:00017019.4BMPR1A, SMAD4
8positive regulation of transcription, DNA-templatedGO:00458939.2BMPR1A, SMAD4
9BMP signaling pathwayGO:00305099.2BMPR1A, SMAD4
10transforming growth factor beta receptor signaling pathwayGO:00071799.1BMPR1A, SMAD4
11palate developmentGO:00600219.0BMPR1A, SMAD4
12cellular response to BMP stimulusGO:00717738.8BMPR1A, SMAD4

Sources for Bmpr1a-Related Juvenile Polyposis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet