RECQL4, RecQ like helicase 4, 9401

N. diseases: 249; N. variants: 73
Disease: Rothmund-Thomson syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564804479
rs1564804479
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
CUI: C0032339
Disease:
Rothmund-Thomson syndrome 		T 0.700 CausalMutation CLINVAR Bronchiectasis in two pediatric patients with Rothmund-Thomson syndrome. 17250521 2007