POLR1C, RNA polymerase I and III subunit C, 9533

N. diseases: 86; N. variants: 24
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 11 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225305
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 11
LEUKODYSTROPHY, HYPOMYELINATING, 11 		0.700 Biomarker disease GENOMICS_ENGLAND Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. 26151409 2015
CUI: C4225305
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 11
LEUKODYSTROPHY, HYPOMYELINATING, 11 		0.700 GeneticVariation disease UNIPROT Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. 26151409 2015
CUI: C4225305
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 11
LEUKODYSTROPHY, HYPOMYELINATING, 11 		0.700 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C4225305
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 11
LEUKODYSTROPHY, HYPOMYELINATING, 11 		0.700 CausalMutation disease CLINVAR Epididymal sarcoidosis: a report of two cases and a review of the literature. 610060 1978
CUI: C4225305
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 11
LEUKODYSTROPHY, HYPOMYELINATING, 11 		0.700 GeneticVariation disease CLINVAR
CUI: C4225305
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 11
LEUKODYSTROPHY, HYPOMYELINATING, 11 		0.700 Biomarker disease CTD_human