Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044857
rs797044857
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate. 28886269 2018
dbSNP: rs797044857
rs797044857
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Rare deleterious variants in GRHL3 are associated with human spina bifida. 28276201 2017
dbSNP: rs797044857
rs797044857
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. 24360809 2014