Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 85021
Gene Symbol: REPS1
REPS1
0.010 GeneticVariation disease BEFREE After studying fibroblast cell lines from subjects carrying both known and unreported biallelic mutations in CRAT and REPS1, we ascribe iron overload to the abnormal recycling of transferrin receptor (TfR1) and the reduction of TfR1 palmitoylation in NBIA. 29395073 2018