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: rs1389647533
rs1389647533
Entrez Id: 9401;9684
Gene Symbol: RECQL4;LRRC14
RECQL4;LRRC14
CUI: C0265308
Disease:
Baller-Gerold syndrome 		G 0.700 CausalMutation CLINVAR Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. 12952869 2003
dbSNP: rs1389647533
rs1389647533
Entrez Id: 9401;9684
Gene Symbol: RECQL4;LRRC14
RECQL4;LRRC14
CUI: C0265308
Disease:
Baller-Gerold syndrome 		G 0.700 CausalMutation CLINVAR Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. 12734318 2003