rs1553247774
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
VAN DER WOUDE SYNDROME 1
T
0.800
CausalMutation
CLINVAR
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
21045959
2010
rs1553247774
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
VAN DER WOUDE SYNDROME 1
0.800
GeneticVariation
UNIPROT
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.
19036739
2009
rs1553247774
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
VAN DER WOUDE SYNDROME 1
T
0.800
CausalMutation
CLINVAR
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.
19036739
2009
rs1553247774
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
VAN DER WOUDE SYNDROME 1
0.800
GeneticVariation
UNIPROT
A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.
18478600
2008
rs1553247774
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
VAN DER WOUDE SYNDROME 1
0.800
GeneticVariation
UNIPROT
A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.
17122170
2006
rs1553247774
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
VAN DER WOUDE SYNDROME 1
T
0.800
CausalMutation
CLINVAR
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome.
16160700
2005
rs1553247774
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
VAN DER WOUDE SYNDROME 1
0.800
GeneticVariation
UNIPROT
Gene symbol: IRF6. Disease: Van der Woude syndrome.
15300989
2004
rs1553247774
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
VAN DER WOUDE SYNDROME 1
0.800
GeneticVariation
UNIPROT
Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.
14618417
2003
rs1553247774
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
VAN DER WOUDE SYNDROME 1
0.800
GeneticVariation
UNIPROT
Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium.
14640121
2003
rs1553247774
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
VAN DER WOUDE SYNDROME 1
0.800
GeneticVariation
UNIPROT
Novel mutations in the IRF6 gene for Van der Woude syndrome.
12920575
2003
rs1553247774
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
VAN DER WOUDE SYNDROME 1
0.800
GeneticVariation
UNIPROT
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
12219090
2002
rs1553247774
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
VAN DER WOUDE SYNDROME 1
T
0.800
CausalMutation
CLINVAR
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
12219090
2002