RECQL4, RecQ like helicase 4, 9401

N. diseases: 249; N. variants: 73
Disease: Rapadilino syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307090
rs1085307090
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
CUI: C1849453
Disease:
Rapadilino syndrome 		A 0.700 GeneticVariation CLINVAR Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. 12734318 2003
dbSNP: rs1085307090
rs1085307090
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
CUI: C1849453
Disease:
Rapadilino syndrome 		A 0.700 GeneticVariation CLINVAR Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. 10678659 2000