MCID: SX1001

Six1-Related Branchiootorenal Spectrum Disorders malady

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Ear diseases, Fetal 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 22
Branchiootic Syndrome 3 22 65
 
Bos3 22

Classifications:



External Ids:

UMLS65 C1842124

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 brachiootic syndrome 3 and branchiootic syndrome 1. 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 Syndrome family:

Branchiootorenal Syndrome 2 Branchiootorenal Spectrum Disorders
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
1brachiootic syndrome 311.4
2branchiootic syndrome 110.4

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 Disorders22 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.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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet