Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84627
Gene Symbol: ZNF469
ZNF469
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 Biomarker 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
Entrez Id: 84627
Gene Symbol: ZNF469
ZNF469
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 Biomarker GENOMICS_ENGLAND Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). 20938016

2010
Entrez Id: 84627
Gene Symbol: ZNF469
ZNF469
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 Biomarker GENOMICS_ENGLAND Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. 18452888

2008