POLR1C, RNA polymerase I and III subunit C, 9533

N. diseases: 86; N. variants: 24
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 11 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371802902
rs371802902
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		0.800 GeneticVariation UNIPROT Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. 26151409 2015
dbSNP: rs371802902
rs371802902
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		G 0.800 CausalMutation CLINVAR Epididymal sarcoidosis: a report of two cases and a review of the literature. 610060 1978