LOXHD1, lipoxygenase homology domains 1, 125336

N. diseases: 11; N. variants: 12
Disease: Fleck corneal dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		0.020 GeneticVariation disease BEFREE However, up to now screening for FCD of heterozygous carriers in DFNB77 families has not been reported. 29676012 2018
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		0.020 Biomarker disease BEFREE Corneal sections of the original proband were stained for LOXHD1 and demonstrated a distinct increase in antibody punctate staining in the endothelium and Descemet membrane; punctate staining was absent from both normal corneas and FCD corneas negative for causal LOXHD1 mutations. 22341973 2012