MCID: SX1001

Six1-Related Branchiootorenal Spectrum Disorders malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Summaries for Six1-Related Branchiootorenal Spectrum Disorders

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34MalaCards
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MalaCards: Six1-Related Branchiootorenal Spectrum Disorders, is also known as branchiootic syndrome 3 An important gene associated with Six1-Related Branchiootorenal Spectrum Disorders is SIX1 (SIX homeobox 1).

Aliases & Classifications for Six1-Related Branchiootorenal Spectrum Disorders

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Sources:
21GeneTests, 63UMLS
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Classifications:

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


Aliases & Descriptions:

six1-related branchiootorenal spectrum disorders 21
branchiootic syndrome 3 63


Related Diseases for Six1-Related Branchiootorenal Spectrum Disorders

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Symptoms for Six1-Related Branchiootorenal Spectrum Disorders

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Drugs & Therapeutics for Six1-Related Branchiootorenal Spectrum Disorders

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Six1-Related Branchiootorenal Spectrum Disorders

Drug clinical trials:

Search ClinicalTrials for Six1-Related Branchiootorenal Spectrum Disorders

Search NIH Clinical Center for Six1-Related Branchiootorenal Spectrum Disorders

Search CenterWatch for Six1-Related Branchiootorenal Spectrum Disorders

Genetic Tests for Six1-Related Branchiootorenal Spectrum Disorders

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21GeneTests
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Genetic tests related to Six1-Related Branchiootorenal Spectrum Disorders:

id Genetic test Affiliating Genes
1 Six1-Related Branchiootorenal Spectrum Disorders21 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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Six1-Related Branchiootorenal Spectrum Disorders:

1
id Gene Name Type Significance SNP ID Assembly Location
1SIX1NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys)single nucleotide variantPathogenicrs104894478GRCh37Chr 14, 61115522: 61115522
2SIX1NM_005982.3(SIX1): c.328C> T (p.Arg110Trp)single nucleotide variantPathogenicrs80356459GRCh37Chr 14, 61115580: 61115580
3SIX1NM_005982.3(SIX1): c.397_399delGAG (p.Glu133del)deletionPathogenicrs80356460GRCh37Chr 14, 61115509: 61115511
4SIX1NM_005982.3(SIX1): c.364T> A (p.Trp122Arg)single nucleotide variantPathogenicrs121909770GRCh37Chr 14, 61115544: 61115544

Expression for genes affiliated with Six1-Related Branchiootorenal Spectrum Disorders

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Six1-Related Branchiootorenal Spectrum Disorders

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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Compounds 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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Products for genes affiliated with Six1-Related Branchiootorenal Spectrum Disorders

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Six1-Related Branchiootorenal Spectrum Disorders

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet