MCID: BRN046
MIFTS: 19

Branchiootorenal Spectrum Disorders malady

Summaries for Branchiootorenal Spectrum Disorders

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19GeneReviews, 32MalaCards
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MalaCards: Branchiootorenal Spectrum Disorders, also known as branchiootic syndrome 1, is related to six5-related branchiootorenal spectrum disorders and eya1-related branchiootorenal spectrum disorders. An important gene associated with Branchiootorenal Spectrum Disorders is SIX5 (SIX homeobox 5), and among its related pathways is Transcriptional misregulation in cancer. Related mouse phenotypes are endocrine/exocrine gland and muscle.

GeneReviews summary for bor

Aliases & Classifications for Branchiootorenal Spectrum Disorders

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19GeneReviews, 20GeneTests, 22GTR, 60UMLS
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Aliases & Descriptions:

branchiootorenal spectrum disorders 19 20 22
branchiootic syndrome 1 60


Related Diseases for Branchiootorenal Spectrum Disorders

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Branchiootorenal Spectrum Disorders:



Diseases related to branchiootorenal spectrum disorders

Clinical Features for Branchiootorenal Spectrum Disorders

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Drugs & Therapeutics for Branchiootorenal Spectrum Disorders

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Branchiootorenal Spectrum Disorders

Drug clinical trials:

Search ClinicalTrials for Branchiootorenal Spectrum Disorders

Search NIH Clinical Center for Branchiootorenal Spectrum Disorders

Search CenterWatch for Branchiootorenal Spectrum Disorders

Genetic Tests for Branchiootorenal Spectrum Disorders

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20GeneTests, 22GTR
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Genetic tests related to Branchiootorenal Spectrum Disorders:

id Genetic test Affiliating Genes
1 Branchiootorenal Spectrum Disorders20 22 SIX5

Anatomical Context for Branchiootorenal Spectrum Disorders

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Animal Models for Branchiootorenal Spectrum Disorders or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Branchiootorenal Spectrum Disorders:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.5SIX1, SIX5, EYA1
2MP:00053698.4SIX1, SIX5, EYA1
3MP:00053918.2SIX1, SIX5, EYA1

Publications for Branchiootorenal Spectrum Disorders

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50PubMed
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Articles related to Branchiootorenal Spectrum Disorders:

idTitleAuthorsYear
1
Branchiootorenal Spectrum Disorders (20301554)
1993

Genetic Variations for Branchiootorenal Spectrum Disorders

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Expression for genes affiliated with Branchiootorenal Spectrum Disorders

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Branchiootorenal Spectrum Disorders

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Pathways for genes affiliated with Branchiootorenal Spectrum Disorders

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29KEGG
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Pathways related to Branchiootorenal Spectrum Disorders according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1SIX1, EYA1

Compounds for genes affiliated with Branchiootorenal Spectrum Disorders

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GO Terms for genes affiliated with Branchiootorenal Spectrum Disorders

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16Gene Ontology
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Biological processes related to Branchiootorenal Spectrum Disorders according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:0725139.4EYA1, SIX1
2aorta morphogenesisGO:0359099.4EYA1, SIX1
3neuron fate specificationGO:0486659.4SIX1, EYA1
4pharyngeal system developmentGO:0600379.4SIX1, EYA1
5regulation of neuron differentiationGO:0456649.3EYA1, SIX1
6middle ear morphogenesisGO:0424749.3EYA1, SIX1
7cochlea morphogenesisGO:0901039.3SIX1, EYA1
8outflow tract morphogenesisGO:0031519.2SIX1, EYA1
9embryonic skeletal system morphogenesisGO:0487049.2EYA1, SIX1
10branching involved in ureteric bud morphogenesisGO:0016589.1EYA1, SIX1
11pattern specification processGO:0073899.0SIX1, EYA1
12sensory perception of soundGO:0076058.8SIX1, EYA1
13transcription, DNA-dependentGO:0063518.5EYA1, SIX5, SIX1

Molecular functions related to Branchiootorenal Spectrum Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435659.0SIX1, SIX5

Products for genes affiliated with Branchiootorenal Spectrum Disorders

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Branchiootorenal Spectrum Disorders

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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