Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.020 GeneticVariation disease BEFREE Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia. 31089205 2020
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.020 Biomarker disease BEFREE POLR3GL also encodes a subunit of RNA polymerase III and has recently been associated with endosteal hyperostosis and oligodontia in three patients with a phenotype distinct from the patient described here. 31695177 2020