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: C1858567
Disease: Abnormal lacrimal duct morphology
Abnormal lacrimal duct morphology 		0.100 Biomarker phenotype HPO
CUI: C1836678
Disease: Abnormality of the middle ear ossicles
Abnormality of the middle ear ossicles 		0.100 Biomarker phenotype HPO
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.100 Biomarker disease HPO
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		0.100 Biomarker disease HPO
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 GeneticVariation group BEFREE Five of the six corresponding germline V genes have been found to encode either natural autoantibodies or autoantibodies in other autoimmune disorders; and three of the six V genes have been found in fetal liver. 8200991 1994
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.010 AlteredExpression disease BEFREE Furthermore, the expression of SIX5 and not DMPK in the adult lens implicates a role for SIX5 dysfunction in the development of adult onset cataracts, the most frequently occurring eye phenotype in DM. 9949207 1999
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.300 Biomarker disease CTD_human
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 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 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 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 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 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 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 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 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 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 CTD_human
CUI: C0006131
Disease: Branchioma
Branchioma 		0.100 Biomarker disease HPO
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.300 Biomarker disease CTD_human
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 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
CUI: C1970479
Disease: Branchiootorenal Syndrome 2
Branchiootorenal Syndrome 2 		0.700 Biomarker disease CTD_human