RECQL4, RecQ like helicase 4, 9401

N. diseases: 249; N. variants: 73
Disease: Baller-Gerold syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 GeneticVariation disease UNIPROT Because patients with RAPADILINO syndrome and a subset of patients with RTS have RECQL4 mutations, we reassessed two previously reported BGS families and found causal mutations in RECQL4 in both. 15964893 2006
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 CausalMutation disease CLINVAR A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. 15897384 2005
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 CausalMutation disease CLINVAR Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. 12952869 2003
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 CausalMutation disease CLINVAR RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient. 12838562 2003
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 GeneticVariation disease CLINVAR Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. 12734318 2003
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 GeneticVariation disease CLINVAR Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. 12952869 2003
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 CausalMutation disease CLINVAR Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. 12734318 2003
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 GeneticVariation disease CLINVAR Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. 10678659 2000
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 CausalMutation disease CLINVAR Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. 10678659 2000
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. 9934984 1999
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 CausalMutation disease CLINVAR Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. 10319867 1999
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 Biomarker disease CTD_human
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND