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 CLINVAR The helicase and ATPase activities of RECQL4 are compromised by mutations reported in three human patients. 23238538 2012
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 GeneticVariation disease BEFREE The two heterozygous mutations (c.2059-1G>C and c.2141_2142delAG) were detected in the RECQL4 (NM_004260) gene in the fetus; therefore, the fetus was predicted to have Baller-Gerold syndrome. 25966250 2015
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 GeneticVariation disease BEFREE Mutations in RecQL4 helicase results in three clinically related autosomal recessive disorders: Rothmund-Thomson syndrome (RTS), RAPADILINO, and Baller-Gerold syndrome. 30206236 2018
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 BEFREE This is the first reported case of BGS in Japan caused by RECQL4 gene mutation. 28358413 2017
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 GeneticVariation disease BEFREE Our results confirm that BGS in a subgroup of patients is due to RECQL4 mutations and could be integrated into a clinical spectrum that encompasses RTS and RAPADILINO syndrome. 15964893 2006
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 GeneticVariation disease BEFREE Interestingly, mutations in RECQL4 have recently been revealed not only in Rothmund-Thomson-, but RAPADILINO-, and cases of Baller-Gerold syndrome also. 16617241 2006
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 GeneticVariation disease CLINVAR The mutation spectrum in RECQL4 diseases. 18716613 2009
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 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 GeneticVariation disease BEFREE However, mutations in RecQL4 result in three human disorders: (I) Rothmund-Thomson syndrome (RTS), (II) RAPADILINO and (III) Baller-Gerold syndrome (BGS). 29080750 2018
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 GeneticVariation disease BEFREE We performed RECQL4 mutation detection in a patient with BGS and several clinical signs of RTS who developed a midline NK/T-cell lymphoma. 19291770 2009
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 GeneticVariation disease CLINVAR Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. 18504617 2008
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 Biomarker disease CTD_human
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND We performed RECQL4 mutation detection in a patient with BGS and several clinical signs of RTS who developed a midline NK/T-cell lymphoma. 19291770 2009
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. 24635570 2015
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND
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 The mutation spectrum in RECQL4 diseases. 18716613 2009
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 CausalMutation disease CLINVAR Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome. 21418107 2011
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 CausalMutation disease CLINVAR Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. 27247962 2016
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		0.770 CausalMutation disease CLINVAR We performed RECQL4 mutation detection in a patient with BGS and several clinical signs of RTS who developed a midline NK/T-cell lymphoma. 19291770 2009