POLR3B, RNA polymerase III subunit B, 55703
N. diseases: 71; N. variants: 19
Source: ALL
| Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year |
|---|---|---|---|---|---|---|---|
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0.600 | Biomarker | disease | GENOMICS_ENGLAND | A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. | 25655951 | 2015 |
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0.600 | Biomarker | disease | GENOMICS_ENGLAND | A practical approach to diagnosing adult onset leukodystrophies. | 24357685 | 2014 |
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0.600 | GeneticVariation | disease | UNIPROT | Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. | 23355746 | 2013 |
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0.600 | GeneticVariation | disease | UNIPROT | Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. | 22036171 | 2011 |
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0.600 | GeneticVariation | disease | UNIPROT | Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. | 22036172 | 2011 |
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0.600 | CausalMutation | disease | CLINVAR | |||
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0.600 | GeneticVariation | disease | CLINVAR |