RECQL4, RecQ like helicase 4, 9401

N. diseases: 249; N. variants: 73
Disease: Poikiloderma with Neutropenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858723
Disease: Poikiloderma with Neutropenia
Poikiloderma with Neutropenia 		0.010 Biomarker disease BEFREE In addition, three of six families previously classified as Rothmund-Thomson syndrome (RTS-a poikiloderma that is sometimes confused with PN) were also found to have homozygous C16orf57 mutations. 20817924 2010