MCID: SX1001

Six1-Related Branchiootorenal Spectrum Disorders malady

Genetic diseases, Rare diseases, Nephrological diseases categories
Download this MalaCard

Summaries for Six1-Related Branchiootorenal Spectrum Disorders

About this section
Sources:
33MalaCards
See all sources

Fully expand this MalaCard
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

About this section
Sources:
20GeneTests, 62UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

six1-related branchiootorenal spectrum disorders 20
branchiootic syndrome 3 62


Related Diseases for Six1-Related Branchiootorenal Spectrum Disorders

About this section

Symptoms for Six1-Related Branchiootorenal Spectrum Disorders

About this section

Drugs & Therapeutics for Six1-Related Branchiootorenal Spectrum Disorders

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Six1-Related Branchiootorenal Spectrum Disorders

Search NIH Clinical Center for Six1-Related Branchiootorenal Spectrum Disorders

Genetic Tests for Six1-Related Branchiootorenal Spectrum Disorders

About this section
Sources:
20GeneTests
See all sources

Genetic tests related to Six1-Related Branchiootorenal Spectrum Disorders:

id Genetic test Affiliating Genes
1 Six1-Related Branchiootorenal Spectrum Disorders20 SIX1

Anatomical Context for Six1-Related Branchiootorenal Spectrum Disorders

About this section

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

About this section

Publications for Six1-Related Branchiootorenal Spectrum Disorders

About this section

Variations for Six1-Related Branchiootorenal Spectrum Disorders

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Six1-Related Branchiootorenal Spectrum Disorders

About this section

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

About this section

Products for genes affiliated with Six1-Related Branchiootorenal Spectrum Disorders

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Six1-Related Branchiootorenal Spectrum Disorders

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet