BOS3
MCID: SX1001
MIFTS: 9

Six1-Related Branchiootorenal Spectrum Disorders (BOS3) malady

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Six1-Related Branchiootorenal Spectrum Disorders

Aliases & Descriptions for Six1-Related Branchiootorenal Spectrum Disorders:

Name: Six1-Related Branchiootorenal Spectrum Disorders 24
Branchiootic Syndrome 3 24 69
Bos3 24

Classifications:



Summaries for Six1-Related Branchiootorenal Spectrum Disorders

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

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:

id Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 10.9
2 brachiootic syndrome 3 10.8

Symptoms & Phenotypes for Six1-Related Branchiootorenal Spectrum Disorders

Drugs & Therapeutics for Six1-Related Branchiootorenal Spectrum Disorders

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

Genetic Tests for Six1-Related Branchiootorenal Spectrum Disorders

Genetic tests related to Six1-Related Branchiootorenal Spectrum Disorders:

id Genetic test Affiliating Genes
1 Six1-Related Branchiootorenal Spectrum Disorders 24 SIX1

Anatomical Context for Six1-Related Branchiootorenal Spectrum Disorders

Publications for Six1-Related Branchiootorenal Spectrum Disorders

Variations for Six1-Related Branchiootorenal Spectrum Disorders

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SIX1 NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys) single nucleotide variant Pathogenic rs104894478 GRCh37 Chromosome 14, 61115522: 61115522
2 SIX1 NM_005982.3(SIX1): c.328C> T (p.Arg110Trp) single nucleotide variant Pathogenic rs80356459 GRCh37 Chromosome 14, 61115580: 61115580
3 SIX1 NM_005982.3(SIX1): c.397_399delGAG (p.Glu133del) deletion Pathogenic rs80356460 GRCh37 Chromosome 14, 61115509: 61115511
4 SIX1 NM_005982.3(SIX1): c.364T> A (p.Trp122Arg) single nucleotide variant Pathogenic rs121909770 GRCh37 Chromosome 14, 61115544: 61115544

Expression for Six1-Related Branchiootorenal Spectrum Disorders

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

Pathways for Six1-Related Branchiootorenal Spectrum Disorders

GO Terms for Six1-Related Branchiootorenal Spectrum Disorders

Sources for Six1-Related Branchiootorenal Spectrum Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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