MCID: BRN046
MIFTS: 23

Branchiootorenal Spectrum Disorders malady

Genetic diseases, Rare diseases, Nephrological diseases categories
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Summaries for Branchiootorenal Spectrum Disorders

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MalaCards based summary: Branchiootorenal Spectrum Disorders 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 hearing/vestibular/ear and vision/eye.

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Aliases & Classifications for Branchiootorenal Spectrum Disorders

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Branchiootorenal Spectrum Disorders, Aliases & Descriptions:

Name: Branchiootorenal Spectrum Disorders 19 20 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases


Related Diseases for Branchiootorenal Spectrum Disorders

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Graphical network of diseases related to Branchiootorenal Spectrum Disorders:



Diseases related to branchiootorenal spectrum disorders

Symptoms for Branchiootorenal Spectrum Disorders

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Drugs & Therapeutics for Branchiootorenal Spectrum Disorders

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Drug clinical trials:

Search ClinicalTrials for Branchiootorenal Spectrum Disorders

Search NIH Clinical Center for Branchiootorenal Spectrum Disorders

Genetic Tests for Branchiootorenal Spectrum Disorders

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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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MGI Mouse Phenotypes related to Branchiootorenal Spectrum Disorders:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1SIX1, EYA1
2MP:00053918.5SIX5, SIX1, EYA1
3MP:00053698.4EYA1, SIX1, SIX5
4MP:00053798.2SIX5, SIX1, EYA1

Publications for Branchiootorenal Spectrum Disorders

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Articles related to Branchiootorenal Spectrum Disorders:

idTitleAuthorsYear
1
Branchiootorenal Spectrum Disorders (20301554)
1993

Variations for Branchiootorenal Spectrum Disorders

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Expression for genes affiliated with Branchiootorenal Spectrum Disorders

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:0725139.4SIX1, EYA1
2aorta morphogenesisGO:0359099.4SIX1, EYA1
3neuron fate specificationGO:0486659.4SIX1, EYA1
4pharyngeal system developmentGO:0600379.4EYA1, SIX1
5regulation of neuron differentiationGO:0456649.4SIX1, EYA1
6cochlea morphogenesisGO:0901039.3SIX1, EYA1
7middle ear morphogenesisGO:0424749.3SIX1, EYA1
8outflow tract morphogenesisGO:0031519.3EYA1, SIX1
9embryonic skeletal system morphogenesisGO:0487049.2SIX1, EYA1
10branching involved in ureteric bud morphogenesisGO:0016589.2SIX1, EYA1
11pattern specification processGO:0073899.1SIX1, EYA1
12positive regulation of transcription from RNA polymerase II promoterGO:0459449.1SIX1, EYA1
13sensory perception of soundGO:0076059.0EYA1, SIX1
14transcription, DNA-templatedGO:0063518.2SIX5, SIX1, EYA1

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

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

Products for genes affiliated with Branchiootorenal Spectrum Disorders

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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet