Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
0.790 GeneticVariation disease BEFREE Rare mutations in IRF6 and GRHL3 cause Van der Woude syndrome, an autosomal dominant orofacial clefting disorder. 28732181 2017
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
0.790 GeneticVariation disease BEFREE The antecedent member of this family, Drosophila grainyhead ( grh), is required for head skeleton development in fruit flies, loss or mutation of Grhl family members in mouse and zebrafish models leads to defects of both maxilla and mandible, and recently, mutations in human GRHL3 have been shown to cause or contribute to both syndromic (Van Der Woude syndrome) and nonsyndromic palatal clefts. 28697314 2017
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
0.790 GeneticVariation disease BEFREE Significantly, we also report the identification of 2 unique missense mutations in the NME proteins in patients with CLP (NME1 R18Q in an IRF6 and GRHL3 mutation-negative patient with van der Woude syndrome and NME2 G71V in a patient with nonsyndromic CLP). 28767310 2017
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
0.790 GeneticVariation disease BEFREE Grainyhead-like-3 (GRHL3) was recently identified as the second gene that, when mutated, can leads to Van der Woude syndrome, which is characterized by orofacial clefts (OFC) and lower lip pits. 27459192 2016
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
0.790 GeneticVariation disease BEFREE Furthermore, IRF6 regulates GRHL3 and rare variants in this downstream target can also lead to Van der Woude syndrome. 26332872 2016
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
0.790 Biomarker disease BEFREE Mutations in IRF6 (Interferon Regulatory Factor 6) and GRHL3 (Grainyhead-like 3) cause Van der Woude syndrome, which includes CL/P. 26692521 2016
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
0.790 Biomarker disease BEFREE Recently, GRHL3 was identified as another VWS causative gene. 27129939 2016
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
0.790 GeneticVariation disease BEFREE This is important for genetic counseling: given that VWS is rare compared to nsCPO, our data suggest that dominant GRHL3 mutations are more likely to cause nonsyndromic than syndromic CPO. 27018475 2016
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
0.790 GermlineCausalMutation disease ORPHANET According to a zebrafish-based assay, the disease-associated GRHL3 mutations abrogated periderm development and were consistent with a dominant-negative effect, in contrast to haploinsufficiency seen in most VWS cases caused by IRF6 mutations. 24360809 2014
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
0.790 GeneticVariation disease BEFREE According to a zebrafish-based assay, the disease-associated GRHL3 mutations abrogated periderm development and were consistent with a dominant-negative effect, in contrast to haploinsufficiency seen in most VWS cases caused by IRF6 mutations. 24360809 2014
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
0.790 Biomarker disease MGD According to a zebrafish-based assay, the disease-associated GRHL3 mutations abrogated periderm development and were consistent with a dominant-negative effect, in contrast to haploinsufficiency seen in most VWS cases caused by IRF6 mutations. 24360809 2014
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
0.790 Biomarker disease GENOMICS_ENGLAND