×
Entrez Id:
57822
Gene Symbol:
GRHL3
GRHL3
0.400
Biomarker
disease
GENOMICS_ENGLAND
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
24360809
2014
×
Entrez Id:
57822
Gene Symbol:
GRHL3
GRHL3
0.400
GeneticVariation
disease
CLINVAR
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
CausalMutation
disease
CLINVAR
Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.
19623037
2009
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
GeneticVariation
disease
UNIPROT
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
12219090
2002
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
GeneticVariation
disease
CLINVAR
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.
27834299
2017
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
CausalMutation
disease
CLINVAR
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome.
16160700
2005
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
GeneticVariation
disease
UNIPROT
Novel mutations in the IRF6 gene for Van der Woude syndrome.
12920575
2003
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
CausalMutation
disease
CLINVAR
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.
23154523
2013
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
CausalMutation
disease
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
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
GeneticVariation
disease
CLINVAR
Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?
19449419
2009
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
GeneticVariation
disease
UNIPROT
A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.
18478600
2008
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
GeneticVariation
disease
UNIPROT
A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.
17122170
2006
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
GeneticVariation
disease
UNIPROT
Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium.
14640121
2003
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
CausalMutation
disease
CLINVAR
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.
25548624
2014
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
CausalMutation
disease
CLINVAR
Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.
23394314
2014
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
GeneticVariation
disease
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
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
CausalMutation
disease
CLINVAR
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.
19282774
2009
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
GeneticVariation
disease
CLINVAR
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.
19282774
2009
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
CausalMutation
disease
CLINVAR
Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions.
25784454
2015
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
CausalMutation
disease
CLINVAR
EEC syndrome-like phenotype in a patient with an IRF6 mutation.
22488974
2012
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
GeneticVariation
disease
UNIPROT
Gene symbol: IRF6. Disease: Van der Woude syndrome.
15300989
2004
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
Biomarker
disease
GENOMICS_ENGLAND
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.
20803643
2010
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
GeneticVariation
disease
CLINVAR
Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome.
15472655
2004
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.610
GeneticVariation
disease
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