TDP2, tyrosyl-DNA phosphodiesterase 2, 51567

N. diseases: 65; N. variants: 6
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310780
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 		0.610 Biomarker disease GENOMICS_ENGLAND We describe a fifth patient, carrying a novel mutation in the same gene, thus confirming the role of TDP2 mutations in determining the disease and defining the main features SCAR23: pediatric onset ataxia and drug-resistant epilepsy and intellectual disability. 31410782 2019
CUI: C4310780
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 		0.610 GeneticVariation disease BEFREE We describe a fifth patient, carrying a novel mutation in the same gene, thus confirming the role of TDP2 mutations in determining the disease and defining the main features SCAR23: pediatric onset ataxia and drug-resistant epilepsy and intellectual disability. 31410782 2019
CUI: C4310780
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 		0.610 GermlineCausalMutation disease ORPHANET TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function. 24658003 2014
CUI: C4310780
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 		0.610 CausalMutation disease CLINVAR