POLR3A, RNA polymerase III subunit A, 11128

N. diseases: 219; N. variants: 47
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4082304
Disease: Oligodontia
Oligodontia
0.110 GeneticVariation disease BEFREE Bi-allelic missense variants in POLR3A have been associated with phenotypes distinct from WRS: hypogonadotropic hypogonadism and hypomyelinating leukodystrophy with or without oligodontia. 30414627 2018
CUI: C4082304
Disease: Oligodontia
Oligodontia
0.110 Biomarker disease HPO