Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951

2015

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. 21855841

2011