MCID: BMP001
MIFTS: 15

Bmpr1a-Related Juvenile Polyposis malady

Category: Genetic diseases (common)

Aliases & Classifications for Bmpr1a-Related Juvenile Polyposis

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Aliases & Descriptions for Bmpr1a-Related Juvenile Polyposis:

Name: Bmpr1a-Related Juvenile Polyposis 24

Classifications:



Summaries for Bmpr1a-Related Juvenile Polyposis

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MalaCards based summary: Bmpr1a-Related Juvenile Polyposis is related to c5orf42-related joubert syndrome and pierre robin syndrome and oligodactyly. An important gene associated with Bmpr1a-Related Juvenile Polyposis is BMPR1A (Bone Morphogenetic Protein Receptor Type 1A), and among its related pathways are Integrated Breast Cancer Pathway and Hippo signaling pathway. Related mouse phenotype Increased mitotic index.

Related Diseases for Bmpr1a-Related Juvenile Polyposis

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



Diseases related to bmpr1a-related juvenile polyposis

Symptoms & Phenotypes for Bmpr1a-Related Juvenile Polyposis

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GenomeRNAi Phenotypes related to Bmpr1a-Related Juvenile Polyposis according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00110-A-09.1BMPR1A, SMAD4

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 Polyposis24 BMPR1A

Anatomical Context for Bmpr1a-Related Juvenile Polyposis

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

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.1BMPR1A, SMAD4
29.1BMPR1A, SMAD4
3
Show member pathways
9.1BMPR1A, SMAD4
4
Show member pathways
9.1BMPR1A, SMAD4
5
Show member pathways
9.1BMPR1A, SMAD4
69.1BMPR1A, SMAD4
79.1BMPR1A, SMAD4
89.1BMPR1A, SMAD4
9
Show member pathways
9.1BMPR1A, SMAD4
10
Show member pathways
9.1BMPR1A, SMAD4
11
Show member pathways
9.1BMPR1A, SMAD4
129.1BMPR1A, SMAD4

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 13)
idNameGO IDScoreTop Affiliating Genes
1anterior/posterior pattern specificationGO:00099529.8BMPR1A, SMAD4
2BMP signaling pathwayGO:00305099.8BMPR1A, SMAD4
3cellular response to BMP stimulusGO:00717739.8BMPR1A, SMAD4
4developmental growthGO:00485899.8BMPR1A, SMAD4
5embryonic digit morphogenesisGO:00427339.8BMPR1A, SMAD4
6endoderm developmentGO:00074929.8BMPR1A, SMAD4
7in utero embryonic developmentGO:00017019.8BMPR1A, SMAD4
8outflow tract septum morphogenesisGO:00031489.8BMPR1A, SMAD4
9palate developmentGO:00600219.8BMPR1A, SMAD4
10positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.8BMPR1A, SMAD4
11positive regulation of SMAD protein import into nucleusGO:00603919.8BMPR1A, SMAD4
12positive regulation of transcription, DNA-templatedGO:00458939.6BMPR1A, SMAD4
13transforming growth factor beta receptor signaling pathwayGO:00071799.1BMPR1A, SMAD4

Sources for Bmpr1a-Related Juvenile Polyposis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet