Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation group CLINVAR Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate. 28886269 2018
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation group CLINVAR Rare deleterious variants in GRHL3 are associated with human spina bifida. 28276201 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation group CLINVAR Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. 24360809 2014