SIX5, SIX homeobox 5, 147912

N. diseases: 38; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970479
Disease: Branchiootorenal Syndrome 2
Branchiootorenal Syndrome 2 		0.700 GeneticVariation disease UNIPROT Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. 17357085 2007
CUI: C1970479
Disease: Branchiootorenal Syndrome 2
Branchiootorenal Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. 17357085 2007
CUI: C1970479
Disease: Branchiootorenal Syndrome 2
Branchiootorenal Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy. 9949207 1999
CUI: C1970479
Disease: Branchiootorenal Syndrome 2
Branchiootorenal Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1970479
Disease: Branchiootorenal Syndrome 2
Branchiootorenal Syndrome 2 		0.700 Biomarker disease CTD_human
CUI: C1970479
Disease: Branchiootorenal Syndrome 2
Branchiootorenal Syndrome 2 		0.700 CausalMutation disease CLINVAR
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 Biomarker disease CLINGEN Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. 24429398 2014
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 GeneticVariation disease BEFREE Mutations in EYA1, SIX1 and SIX5 genes have been associated with BOR syndrome. 23840632 2013
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 GeneticVariation disease BEFREE Further investigation is warranted regarding the contribution of SIX1 and SIX5 mutations to BOR syndrome in East Asian populations. 22447252 2012
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 GeneticVariation disease LHGDN We thereby identified heterozygous mutations in SIX5 as a novel cause of BOR. 17357085 2007
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 GeneticVariation disease BEFREE We thereby identified heterozygous mutations in SIX5 as a novel cause of BOR. 17357085 2007
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 Biomarker disease CLINGEN We thereby identified heterozygous mutations in SIX5 as a novel cause of BOR. 17357085 2007
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 Biomarker disease CLINGEN A map of the interactome network of the metazoan C. elegans. 14704431 2004
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 Biomarker disease CLINGEN Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins. 11950062 2002
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 Biomarker disease CLINGEN Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. 10802668 2000
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 Biomarker disease CLINGEN Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. 10802667 2000
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 Biomarker disease CTD_human
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.300 Biomarker disease GENOMICS_ENGLAND Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy. 9949207 1999
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.300 Biomarker disease CTD_human
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.300 Biomarker disease CTD_human
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 GeneticVariation disease BEFREE Parallel study of DM2, a closely related form of myotonic dystrophy, has revealed a similar mechanism, but also made clear that part of the attention should remain focused on a possible role for candidate loss-of-function genes from the DM1 locus itself (like DMWD, DMPK and SIX5) or elsewhere in the genome, to find explanations for clinical aspects that are unique to DM1. 14526185 2003
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 Biomarker disease BEFREE Identification of transcriptional targets for Six5: implication for the pathogenesis of myotonic dystrophy type 1. 11978764 2002
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 AlteredExpression disease BEFREE Semiquantitative multiplex reverse transcriptase PCR (RT/PCR) assays of gene expression from the chromosomes carrying the expanded alleles showed marked reduction of DMPK mRNA, partial inhibition of SIX5 expression from a congenital DM chromosome, and no reduction of DMWD mRNA. 11592825 2001
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 AlteredExpression disease BEFREE An expansion of a CTG repeat at the DM1 locus causes myotonic dystrophy (DM) by altering the expression of the two adjacent genes, DMPK and SIX5, and through a toxic effect of the repeat-containing RNA. 11479593 2001
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 Biomarker disease BEFREE These include lamin A/C in autosomal dominant Emery-Dreifuss muscular dystrophy, SMN in spinal muscular atrophy, SIX5 in myotonic dystrophy, calpain3 in type 2A limb-girdle muscular dystrophy, PABP2 in oculopharyngeal dystrophy, androgen receptor in spinal and bulbar muscular atrophy and the ataxins in hereditary ataxias. 10838245 2000