LOXHD1, lipoxygenase homology domains 1, 125336

N. diseases: 11; N. variants: 12
Disease: Fuchs Endothelial Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.040 Biomarker disease BEFREE To assess the occurrence and diagnostic performance of nine single-nucleotide variants (SNVs) in the TCF4, SLC4A11, LOXHD1, and AGBL1 genes and the CTG18.1 trinucleotide repeat expansion in a Russian cohort of Fuchs' endothelial corneal dystrophy (FECD) patients. 30267097 2018
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.040 GeneticVariation disease BEFREE In the experimental study, coding regions of ZEB1 and LOXHD1 were screened by Sanger DNA sequencing in 52 late-onset and 5 early-onset FECD cases of Indian origin, recruited at a tertiary eye care center. 29799290 2018
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.040 GeneticVariation disease BEFREE Heterozygous deleterious missense variants in LOXHD1 have been associated with late-onset Fuchs corneal dystrophy (FCD). 29676012 2018
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.040 GeneticVariation disease BEFREE Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. 22341973 2012