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: 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: 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