ZNF469, zinc finger protein 469, 84627

N. diseases: 101; N. variants: 27
Disease: Connective Tissue Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.300 Biomarker group GENOMICS_ENGLAND Brittle cornea syndrome (BCS; MIM 229200) is an autosomal recessive generalized connective tissue disorder caused by mutations in ZNF469 and PRDM5. 23680354 2013