RECQL5, RecQ like helicase 5, 9400

N. diseases: 28; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome
0.010 Biomarker disease BEFREE Functional autosomal recessive loss of three members of the family BLM, WRN and RECQL4, results in hereditary human syndromes characterized by cancer predisposition and premature aging, but despite the finding that RECQL5 deficient mice are cancer prone, no such link has been made to human RECQL5. 27764811 2016