Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100008589
Gene Symbol: RNA28SN5
RNA28SN5
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 Biomarker BEFREE While human ribosomal RNAs appeared to have little polymorphism regarding the post-transcriptional modifications, we found that pseudouridylation at two specific sites in 28S ribosomal RNA are significantly reduced in ribosomes of patients with familial dyskeratosis congenita, a genetic disease caused by a point mutation in the pseudouridine synthase gene DKC1. 30202881

2018