MCID: BRN046
MIFTS: 20

Branchiootorenal Spectrum Disorders malady

Genetic diseases, Rare diseases, Nephrological diseases, Ear diseases, Fetal diseases categories

Aliases & Classifications for Branchiootorenal Spectrum Disorders

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Aliases & Descriptions for Branchiootorenal Spectrum Disorders:

Name: Branchiootorenal Spectrum Disorders 19 20 22


Classifications:



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.

GeneReviews summary for bor

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:

35
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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Search GEO for disease gene expression data for Branchiootorenal Spectrum Disorders.

Pathways for genes affiliated with Branchiootorenal Spectrum Disorders

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Pathways related to Branchiootorenal Spectrum Disorders according to GeneCards Suite gene sharing:

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 Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:00725139.4SIX1, EYA1
2aorta morphogenesisGO:00359099.4SIX1, EYA1
3neuron fate specificationGO:00486659.4SIX1, EYA1
4pharyngeal system developmentGO:00600379.4EYA1, SIX1
5regulation of neuron differentiationGO:00456649.4SIX1, EYA1
6cochlea morphogenesisGO:00901039.3SIX1, EYA1
7middle ear morphogenesisGO:00424749.3SIX1, EYA1
8outflow tract morphogenesisGO:00031519.3EYA1, SIX1
9embryonic skeletal system morphogenesisGO:00487049.2SIX1, EYA1
10branching involved in ureteric bud morphogenesisGO:00016589.2SIX1, EYA1
11pattern specification processGO:00073899.1SIX1, EYA1
12positive regulation of transcription from RNA polymerase II promoterGO:00459449.1SIX1, EYA1
13sensory perception of soundGO:00076059.0EYA1, SIX1
14transcription, DNA-templatedGO:00063518.2SIX5, SIX1, EYA1

Molecular functions related to Branchiootorenal Spectrum Disorders according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435659.0SIX5, SIX1

Sources for Branchiootorenal Spectrum Disorders

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet