PRDM5, PR/SET domain 5, 11107

N. diseases: 73; N. variants: 2
Disease: Keratoconus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.120 GeneticVariation disease BEFREE Variants in the PRDM5 gene were previously identified in anterior segment defects, i.e., autosomal recessive brittle cornea syndrome and keratoconus. 26489929 2016
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.120 GeneticVariation disease BEFREE We hypothesized that heterozygous variants in PRDM5 and ZNF469 predispose to the development of isolated keratoconus. 24895405 2014
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.120 Biomarker disease HPO