Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer
0.010 GeneticVariation disease BEFREE Biallelic germline mutations in <i>RTEL1</i> (regulator of telomere elongation helicase 1) result in pathologic telomere erosion and cause dyskeratosis congenita. 29344583 2018