MCID: SX1001

Six1-Related Branchiootorenal Spectrum Disorders malady

Categories: Genetic diseases (common), Nephrological diseases

Aliases & Classifications for Six1-Related Branchiootorenal Spectrum Disorders

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Aliases & Descriptions for Six1-Related Branchiootorenal Spectrum Disorders:

Name: Six1-Related Branchiootorenal Spectrum Disorders 24
Branchiootic Syndrome 3 24 67
 
Bos3 24

Classifications:



Summaries for Six1-Related Branchiootorenal Spectrum Disorders

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MalaCards based summary: Six1-Related Branchiootorenal Spectrum Disorders, also known as branchiootic syndrome 3, is related to branchiootic syndrome 1 and brachiootic syndrome 3. An important gene associated with Six1-Related Branchiootorenal Spectrum Disorders is SIX1 (SIX Homeobox 1).

Related Diseases for Six1-Related Branchiootorenal Spectrum Disorders

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Diseases in the Branchiootorenal Spectrum Disorders family:

Branchiootorenal Syndrome 2 Eya1-Related Branchiootorenal Spectrum Disorders
six1-related branchiootorenal spectrum disorders Six5-Related Branchiootorenal Spectrum Disorders

Diseases related to Six1-Related Branchiootorenal Spectrum Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1branchiootic syndrome 110.9
2brachiootic syndrome 310.8

Symptoms for Six1-Related Branchiootorenal Spectrum Disorders

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Drugs & Therapeutics for Six1-Related Branchiootorenal Spectrum Disorders

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Six1-Related Branchiootorenal Spectrum Disorders

Genetic Tests for Six1-Related Branchiootorenal Spectrum Disorders

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Genetic tests related to Six1-Related Branchiootorenal Spectrum Disorders:

id Genetic test Affiliating Genes
1 Six1-Related Branchiootorenal Spectrum Disorders24 SIX1

Anatomical Context for Six1-Related Branchiootorenal Spectrum Disorders

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Animal Models for Six1-Related Branchiootorenal Spectrum Disorders or affiliated genes

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Publications for Six1-Related Branchiootorenal Spectrum Disorders

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Variations for Six1-Related Branchiootorenal Spectrum Disorders

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Clinvar genetic disease variations for Six1-Related Branchiootorenal Spectrum Disorders:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SIX1NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys)SNVPathogenicrs104894478GRCh37Chr 14, 61115522: 61115522
2SIX1NM_005982.3(SIX1): c.397_399delGAG (p.Glu133del)deletionPathogenicrs80356460GRCh37Chr 14, 61115509: 61115511

Expression for genes affiliated with Six1-Related Branchiootorenal Spectrum Disorders

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Search GEO for disease gene expression data for Six1-Related Branchiootorenal Spectrum Disorders.

Pathways for genes affiliated with Six1-Related Branchiootorenal Spectrum Disorders

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GO Terms for genes affiliated with Six1-Related Branchiootorenal Spectrum Disorders

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Sources for Six1-Related Branchiootorenal Spectrum Disorders

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet