RECQL4, RecQ like helicase 4, 9401

N. diseases: 249; N. variants: 73
Disease: Li-Fraumeni Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.010 GeneticVariation disease BEFREE Germline mutations in RECQL4 and p53 lead to cancer predisposition syndromes, Rothmund-Thomson syndrome (RTS) and Li-Fraumeni syndrome (LFS), respectively. 24067899 2014