RECQL4, RecQ like helicase 4, 9401

N. diseases: 249; N. variants: 73
Disease: Baller-Gerold syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060501383
rs1060501383
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
CUI: C0265308
Disease:
Baller-Gerold syndrome 		GGGGG 0.700 CausalMutation CLINVAR Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. 27247962 2016
dbSNP: rs1060501383
rs1060501383
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
CUI: C0265308
Disease:
Baller-Gerold syndrome 		GGGGG 0.700 CausalMutation CLINVAR Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. 15964893 2006
dbSNP: rs1060501383
rs1060501383
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
CUI: C0265308
Disease:
Baller-Gerold syndrome 		GGGGG 0.700 CausalMutation CLINVAR A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. 15897384 2005
dbSNP: rs1060501383
rs1060501383
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
CUI: C0265308
Disease:
Baller-Gerold syndrome 		GGGGG 0.700 CausalMutation CLINVAR Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. 12734318 2003
dbSNP: rs1060501383
rs1060501383
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
CUI: C0265308
Disease:
Baller-Gerold syndrome 		GGGGG 0.700 CausalMutation CLINVAR RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient. 12838562 2003
dbSNP: rs1060501383
rs1060501383
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
CUI: C0265308
Disease:
Baller-Gerold syndrome 		GGGGG 0.700 CausalMutation CLINVAR Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. 10678659 2000