POLR3A, RNA polymerase III subunit A, 11128

N. diseases: 219; N. variants: 47
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608671
rs267608671
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.800 GeneticVariation UNIPROT
dbSNP: rs267608671
rs267608671
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1217230904
rs1217230904
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.700 GeneticVariation UNIPROT Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination. 23694757 2014
dbSNP: rs371703979
rs371703979
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.700 GeneticVariation UNIPROT Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination. 23694757 2014
dbSNP: rs762708292
rs762708292
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.700 GeneticVariation UNIPROT Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination. 23694757 2014
dbSNP: rs1217230904
rs1217230904
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.700 GeneticVariation UNIPROT Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. 23355746 2013
dbSNP: rs371703979
rs371703979
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.700 GeneticVariation UNIPROT Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. 23355746 2013
dbSNP: rs762708292
rs762708292
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.700 GeneticVariation UNIPROT Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. 23355746 2013
dbSNP: rs1217230904
rs1217230904
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.700 GeneticVariation UNIPROT Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. 22036171 2011
dbSNP: rs1217230904
rs1217230904
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.700 GeneticVariation UNIPROT Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. 21855841 2011
dbSNP: rs371703979
rs371703979
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.700 GeneticVariation UNIPROT Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. 22036171 2011
dbSNP: rs371703979
rs371703979
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.700 GeneticVariation UNIPROT Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. 21855841 2011
dbSNP: rs762708292
rs762708292
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.700 GeneticVariation UNIPROT Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. 22036171 2011
dbSNP: rs762708292
rs762708292
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.700 GeneticVariation UNIPROT Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. 21855841 2011
dbSNP: rs201314157
rs201314157
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		C 0.700 CausalMutation CLINVAR Clear cell sarcoma of tendons and aponeurosis--a case report. 614258 1977
dbSNP: rs780839834
rs780839834
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		A 0.700 CausalMutation CLINVAR Clear cell sarcoma of tendons and aponeurosis--a case report. 614258 1977
dbSNP: rs1307896663
rs1307896663
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.700 GeneticVariation UNIPROT
dbSNP: rs1375717376
rs1375717376
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.700 GeneticVariation UNIPROT
dbSNP: rs1554837782
rs1554837782
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		T 0.700 CausalMutation CLINVAR
dbSNP: rs181087667
rs181087667
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		T 0.700 CausalMutation CLINVAR
dbSNP: rs191875469
rs191875469
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267608670
rs267608670
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267608673
rs267608673
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267608677
rs267608677
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267608678
rs267608678
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		A 0.700 CausalMutation CLINVAR