RECQL4, RecQ like helicase 4, 9401

N. diseases: 249; N. variants: 73
Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554902811
rs1554902811
Entrez Id: 9401;9684
Gene Symbol: RECQL4;LRRC14
RECQL4;LRRC14
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. 24635570 2015
dbSNP: rs1554902811
rs1554902811
Entrez Id: 9401;9684
Gene Symbol: RECQL4;LRRC14
RECQL4;LRRC14
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR A patient with Baller-Gerold syndrome and midline NK/T lymphoma. 19291770 2009
dbSNP: rs1554902811
rs1554902811
Entrez Id: 9401;9684
Gene Symbol: RECQL4;LRRC14
RECQL4;LRRC14
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR The mutation spectrum in RECQL4 diseases. 18716613 2009
dbSNP: rs1554902811
rs1554902811
Entrez Id: 9401;9684
Gene Symbol: RECQL4;LRRC14
RECQL4;LRRC14
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. 18647888 2008
dbSNP: rs1554902811
rs1554902811
Entrez Id: 9401;9684
Gene Symbol: RECQL4;LRRC14
RECQL4;LRRC14
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis. 16681588 2006