POLR3A, RNA polymerase III subunit A, 11128

N. diseases: 219; N. variants: 47
Disease: Cerebellar signs ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs 		0.010 GeneticVariation phenotype BEFREE Novel compound heterozygous mutations of POLR3A were identified in the patient, who started to show cerebellar signs at 3 years, lost ambulation at 7 years, and became bedridden at 18 years. 23694757 2014