POLR1C, RNA polymerase I and III subunit C, 9533

N. diseases: 86; N. variants: 24
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: rs373046018
rs373046018
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
dbSNP: rs373046018
rs373046018
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		A 0.800 CausalMutation CLINVAR Epididymal sarcoidosis: a report of two cases and a review of the literature. 610060 1978
dbSNP: rs796052127
rs796052127
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		A 0.800 CausalMutation CLINVAR Epididymal sarcoidosis: a report of two cases and a review of the literature. 610060 1978
dbSNP: rs796052127
rs796052127
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		0.800 GeneticVariation UNIPROT
dbSNP: rs191582628
rs191582628
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C1855433
Disease:
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		A 0.700 CausalMutation CLINVAR Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation. 29567474 2018
dbSNP: rs191582628
rs191582628
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C1855433
Disease:
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		A 0.700 GeneticVariation CLINVAR Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. 26151409 2015
dbSNP: rs201320592
rs201320592
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		0.700 GeneticVariation UNIPROT Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. 26151409 2015
dbSNP: rs191582628
rs191582628
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C1855433
Disease:
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		A 0.700 GeneticVariation CLINVAR Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 21131976 2011
dbSNP: rs191582628
rs191582628
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C1855433
Disease:
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		A 0.700 CausalMutation CLINVAR Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 21131976 2011
dbSNP: rs780663139
rs780663139
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C1855433
Disease:
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		T 0.700 GeneticVariation CLINVAR Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 21131976 2011
dbSNP: rs1057519455
rs1057519455
Entrez Id: 9533;25844
Gene Symbol: POLR1C;YIPF3
POLR1C;YIPF3
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		T 0.700 CausalMutation CLINVAR Epididymal sarcoidosis: a report of two cases and a review of the literature. 610060 1978
dbSNP: rs141156009
rs141156009
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		T 0.700 CausalMutation CLINVAR Epididymal sarcoidosis: a report of two cases and a review of the literature. 610060 1978
dbSNP: rs141471029
rs141471029
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		G 0.700 CausalMutation CLINVAR Epididymal sarcoidosis: a report of two cases and a review of the literature. 610060 1978
dbSNP: rs144054843
rs144054843
Entrez Id: 9533;25844
Gene Symbol: POLR1C;YIPF3
POLR1C;YIPF3
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		G 0.700 CausalMutation CLINVAR Epididymal sarcoidosis: a report of two cases and a review of the literature. 610060 1978
dbSNP: rs191582628
rs191582628
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		A 0.700 CausalMutation CLINVAR Epididymal sarcoidosis: a report of two cases and a review of the literature. 610060 1978
dbSNP: rs763593155
rs763593155
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		G 0.700 CausalMutation CLINVAR Epididymal sarcoidosis: a report of two cases and a review of the literature. 610060 1978
dbSNP: rs796052124
rs796052124
Entrez Id: 9533;25844
Gene Symbol: POLR1C;YIPF3
POLR1C;YIPF3
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		T 0.700 CausalMutation CLINVAR Epididymal sarcoidosis: a report of two cases and a review of the literature. 610060 1978
dbSNP: rs796052125
rs796052125
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		C 0.700 CausalMutation CLINVAR Epididymal sarcoidosis: a report of two cases and a review of the literature. 610060 1978
dbSNP: rs796052126
rs796052126
Entrez Id: 9533;25844
Gene Symbol: POLR1C;YIPF3
POLR1C;YIPF3
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		T 0.700 CausalMutation CLINVAR Epididymal sarcoidosis: a report of two cases and a review of the literature. 610060 1978
dbSNP: rs875989826
rs875989826
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		A 0.700 CausalMutation CLINVAR Epididymal sarcoidosis: a report of two cases and a review of the literature. 610060 1978
dbSNP: rs886041661
rs886041661
Entrez Id: 9533;25844
Gene Symbol: POLR1C;YIPF3
POLR1C;YIPF3
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		A 0.700 CausalMutation CLINVAR Epididymal sarcoidosis: a report of two cases and a review of the literature. 610060 1978
dbSNP: rs1057519456
rs1057519456
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1305006253
rs1305006253
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C4225305
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 11 		0.700 GeneticVariation UNIPROT