ZNF469, zinc finger protein 469, 84627

N. diseases: 101; N. variants: 27
Disease: Ehlers-Danlos syndrome 6B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 GeneticVariation disease BEFREE Our data extend the mutation spectrum of ZNF469 variants implicated in BCS. 30865045 2019
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 GeneticVariation disease BEFREE Brittle cornea syndrome (BCS1 OMIM #229200, BCS2 #614170) is a rare autosomal recessive condition characterised by diffuse thinning and fragility of the cornea. 30115710 2018
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 GeneticVariation disease BEFREE The Zinc Finger Protein 469 (ZNF469) gene has been proposed as a candidate gene for keratoconus due to the association of an upstream polymorphism (rs9938149) with the disease in two independent studies, and the role of the gene in the autosomal recessive disease Brittle Cornea Syndrome. 29228253 2017
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 GeneticVariation disease BEFREE So far, mutations in 2 genes, PRDM5 and ZNF469, have been associated with BCS. 27032025 2016
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 GeneticVariation disease BEFREE Recessive mutations in transcription factors ZNF469 and PRDM5 cause BCS. 26560304 2015
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 GeneticVariation disease BEFREE Four carriers of three BCS1-associated ZNF469 loss-of-function mutations (p.[Glu1392Ter], p.[Gln1930Argfs*6], p.[Gln1930fs*133]) were examined and none had keratoconus. 25564447 2015
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 GeneticVariation disease BEFREE Homozygous mutations in ZNF469 and PR domain-containing protein 5 (PRDM5) genes result in brittle cornea syndrome (BCS) Types 1 and 2, respectively. 24895405 2014
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 GeneticVariation disease BEFREE Mutations in the zinc finger protein gene ZNF469 cause recessive brittle cornea syndrome, characterized by spontaneous corneal perforations. 25097247 2014
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 Biomarker disease GENOMICS_ENGLAND ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. 23680354 2013
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 Biomarker disease BEFREE Transcriptional regulation of extracellular matrix components, particularly of fibrillar collagens, by PRDM5 and ZNF469 suggests that they might be part of the same pathway, the disruption of which is likely to cause the features of BCS. 23680354 2013
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 GeneticVariation disease BEFREE ZNF469 missense mutation is involved in a syndrome with very thin cornea (brittle cornea syndrome). 22814818 2012
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 GeneticVariation disease BEFREE ZNF469, encoding a zinc finger protein of hitherto undefined function, has been identified as a quantitative trait locus for central corneal thickness, and mutations in this gene have been demonstrated in Tunisian Jewish and Palestinian kindreds with BCS. 21664999 2011
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 GeneticVariation disease BEFREE The nearest gene to the associated chromosome 16 SNPs was ZNF469, a locus recently implicated in Brittle Cornea Syndrome (BCS), a very rare disorder characterized by abnormal thin corneas. 20485516 2010
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 GermlineCausalMutation disease ORPHANET Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene. 19661234 2010
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 Biomarker disease GENOMICS_ENGLAND Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). 20938016 2010
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 GeneticVariation disease BEFREE The results confirm that BCS is associated with mutations in ZNF469. 19661234 2010
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 GermlineCausalMutation disease ORPHANET Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). 20938016 2010
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 Biomarker disease CTD_human Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. 18452888 2008
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 Biomarker disease GENOMICS_ENGLAND Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. 18452888 2008
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 CausalMutation disease CLINVAR