RECQL, RecQ like helicase, 5965

N. diseases: 58; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
0.020 GeneticVariation disease BEFREE The induced pluripotent stem cell (iPSC) technology has provided a unique opportunity to develop disease-specific models and personalized treatment for genetic disorders, and is well suitable for the study of Werner syndrome (WS), an autosomal recessive disease with adult onset of premature aging caused by mutations in the RecQ like helicase (WRN) gene. 30206203 2018
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
0.020 GeneticVariation disease BEFREE Other members of this gene family are BLM mutated in Bloom syndrome, WRN mutated in Werner syndrome and RECQL and RECQL5. 12952869 2003