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: rs117642173
rs117642173
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
CUI: C0265308
Disease:
Baller-Gerold syndrome 		T 0.700 CausalMutation CLINVAR Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome. 28039508 2017
dbSNP: rs117642173
rs117642173
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
CUI: C0265308
Disease:
Baller-Gerold syndrome 		T 0.700 CausalMutation CLINVAR Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. 12952869 2003
dbSNP: rs117642173
rs117642173
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
CUI: C0265308
Disease:
Baller-Gerold syndrome 		T 0.700 CausalMutation CLINVAR Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. 12734318 2003
dbSNP: rs117642173
rs117642173
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
CUI: C0265308
Disease:
Baller-Gerold syndrome 		T 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