01
At a glance
Association overview
02
Provenance
Evidence and sources
03
LOC122152296
The gene
04
Fundus Dystrophy
The disorder
05
ClinVar and variant evidence
Genetic basis
07
Provenance
The association between LOC122152296 (OCT4-NANOG HESC Enhancer GRCh37_chr1:216419825-216420431) and Fundus Dystrophy is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.