Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.150 Biomarker disease BEFREE In addition to new associations, we found loci with subtype-specific effects (e.g., GRHL3 [CP], WNT5A [CLP]), as well as loci associated with two or all three subtypes. 31172578 2019
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.150 GeneticVariation disease BEFREE Moreover, it is known that this SNP, as well as another variant, rs41268753 (p.T454M), are associated with nonsyndromic cleft palate and that rs41268753 negatively affects GRHL3 transcriptional activity. 29702134 2018
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.150 GeneticVariation disease GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174 2017
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.150 GeneticVariation disease BEFREE Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. 27018475 2016
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.150 GeneticVariation disease GWASCAT A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. 27018472 2016
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.150 GeneticVariation disease BEFREE The aim of this study was to investigate the possible relationship between common functional variants in GRHL3 and susceptibility to NSOFC, especially cleft palate cases, in a Han Chinese population, one of the ethnic groups with the highest birth prevalence of orofacial clefting. 27459192 2016
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.150 Biomarker disease BEFREE In mouse, all embryos lacking Grhl3 exhibited abnormal oral periderm and 17% developed a cleft palate. 24360809 2014
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.150 Biomarker disease HPO