Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51567
Gene name	Tyrosyl-DNA phosphodiesterase 2
Gene symbol	TDP2
Synonyms (NCBI Gene)	AD022EAP2EAPIITTRAPdJ30M3.3hTDP2
Chromosome	6
Chromosome location	6p22.3
Summary	This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs372245668	C>T	Pathogenic	Splice donor variant
rs879255601	GG>TT	Pathogenic	Stop gained, coding sequence variant
rs1562148727	G>C	Pathogenic	Coding sequence variant, stop gained

118

Show/Hide all (118)

miRTarBase ID	miRNA	Experiments
MIRT1417080	hsa-miR-1207-3p	CLIP-seq
MIRT1417081	hsa-miR-1250	CLIP-seq
MIRT1417082	hsa-miR-1263	CLIP-seq
MIRT1417083	hsa-miR-3140-5p	CLIP-seq
MIRT1417084	hsa-miR-3148	CLIP-seq
MIRT1417085	hsa-miR-3180-5p	CLIP-seq
MIRT1417086	hsa-miR-3673	CLIP-seq
MIRT1417087	hsa-miR-3688-3p	CLIP-seq
MIRT1417088	hsa-miR-3919	CLIP-seq
MIRT1417089	hsa-miR-4267	CLIP-seq
MIRT1417090	hsa-miR-450b-5p	CLIP-seq
MIRT1417091	hsa-miR-4536	CLIP-seq
MIRT1417092	hsa-miR-4756-3p	CLIP-seq
MIRT1417093	hsa-miR-4790-3p	CLIP-seq
MIRT1417094	hsa-miR-520a-5p	CLIP-seq
MIRT1417095	hsa-miR-525-5p	CLIP-seq
MIRT1417096	hsa-miR-550a	CLIP-seq
MIRT2125082	hsa-miR-1238	CLIP-seq
MIRT2125083	hsa-miR-3120-3p	CLIP-seq
MIRT1417083	hsa-miR-3140-5p	CLIP-seq
MIRT1417085	hsa-miR-3180-5p	CLIP-seq
MIRT2125084	hsa-miR-323-3p	CLIP-seq
MIRT2125085	hsa-miR-325	CLIP-seq
MIRT1417090	hsa-miR-450b-5p	CLIP-seq
MIRT2125086	hsa-miR-4691-5p	CLIP-seq
MIRT2125087	hsa-miR-4793-5p	CLIP-seq
MIRT1417094	hsa-miR-520a-5p	CLIP-seq
MIRT1417095	hsa-miR-525-5p	CLIP-seq
MIRT2125088	hsa-miR-545	CLIP-seq
MIRT2125089	hsa-miR-628-3p	CLIP-seq
MIRT2347511	hsa-miR-4424	CLIP-seq
MIRT2347512	hsa-miR-4477b	CLIP-seq
MIRT2347513	hsa-miR-4503	CLIP-seq
MIRT2347514	hsa-miR-4653-3p	CLIP-seq
MIRT2347515	hsa-miR-587	CLIP-seq
MIRT2347516	hsa-miR-590-3p	CLIP-seq
MIRT2640463	hsa-miR-1	CLIP-seq
MIRT2125082	hsa-miR-1238	CLIP-seq
MIRT2640464	hsa-miR-1283	CLIP-seq
MIRT2640465	hsa-miR-1286	CLIP-seq
MIRT2640466	hsa-miR-206	CLIP-seq
MIRT2640467	hsa-miR-21	CLIP-seq
MIRT2640468	hsa-miR-2113	CLIP-seq
MIRT2125083	hsa-miR-3120-3p	CLIP-seq
MIRT2640469	hsa-miR-3127-5p	CLIP-seq
MIRT1417083	hsa-miR-3140-5p	CLIP-seq
MIRT1417085	hsa-miR-3180-5p	CLIP-seq
MIRT2125084	hsa-miR-323-3p	CLIP-seq
MIRT2125085	hsa-miR-325	CLIP-seq
MIRT2640470	hsa-miR-3613-3p	CLIP-seq
MIRT2640471	hsa-miR-3918	CLIP-seq
MIRT2640472	hsa-miR-409-3p	CLIP-seq
MIRT2640473	hsa-miR-4275	CLIP-seq
MIRT2347511	hsa-miR-4424	CLIP-seq
MIRT2640474	hsa-miR-4438	CLIP-seq
MIRT2640475	hsa-miR-4452	CLIP-seq
MIRT2640476	hsa-miR-4477a	CLIP-seq
MIRT2347512	hsa-miR-4477b	CLIP-seq
MIRT2347513	hsa-miR-4503	CLIP-seq
MIRT1417090	hsa-miR-450b-5p	CLIP-seq
MIRT2347514	hsa-miR-4653-3p	CLIP-seq
MIRT2125086	hsa-miR-4691-5p	CLIP-seq
MIRT2640477	hsa-miR-4694-3p	CLIP-seq
MIRT2640478	hsa-miR-4722-5p	CLIP-seq
MIRT2640479	hsa-miR-4757-5p	CLIP-seq
MIRT2640480	hsa-miR-4766-5p	CLIP-seq
MIRT2125087	hsa-miR-4793-5p	CLIP-seq
MIRT1417094	hsa-miR-520a-5p	CLIP-seq
MIRT2640481	hsa-miR-522	CLIP-seq
MIRT1417095	hsa-miR-525-5p	CLIP-seq
MIRT2125088	hsa-miR-545	CLIP-seq
MIRT2640482	hsa-miR-549	CLIP-seq
MIRT2640483	hsa-miR-570	CLIP-seq
MIRT2347516	hsa-miR-590-3p	CLIP-seq
MIRT2640484	hsa-miR-590-5p	CLIP-seq
MIRT2640485	hsa-miR-613	CLIP-seq
MIRT2125089	hsa-miR-628-3p	CLIP-seq
MIRT2640486	hsa-miR-653	CLIP-seq
MIRT2640487	hsa-miR-938	CLIP-seq
MIRT2640463	hsa-miR-1	CLIP-seq
MIRT2125082	hsa-miR-1238	CLIP-seq
MIRT2640464	hsa-miR-1283	CLIP-seq
MIRT2640465	hsa-miR-1286	CLIP-seq
MIRT2640466	hsa-miR-206	CLIP-seq
MIRT2640467	hsa-miR-21	CLIP-seq
MIRT2640468	hsa-miR-2113	CLIP-seq
MIRT2125083	hsa-miR-3120-3p	CLIP-seq
MIRT1417083	hsa-miR-3140-5p	CLIP-seq
MIRT1417085	hsa-miR-3180-5p	CLIP-seq
MIRT2125084	hsa-miR-323-3p	CLIP-seq
MIRT2125085	hsa-miR-325	CLIP-seq
MIRT2640470	hsa-miR-3613-3p	CLIP-seq
MIRT2640472	hsa-miR-409-3p	CLIP-seq
MIRT2640473	hsa-miR-4275	CLIP-seq
MIRT2347511	hsa-miR-4424	CLIP-seq
MIRT2640474	hsa-miR-4438	CLIP-seq
MIRT2640475	hsa-miR-4452	CLIP-seq
MIRT2640476	hsa-miR-4477a	CLIP-seq
MIRT2347512	hsa-miR-4477b	CLIP-seq
MIRT2347513	hsa-miR-4503	CLIP-seq
MIRT1417090	hsa-miR-450b-5p	CLIP-seq
MIRT2347514	hsa-miR-4653-3p	CLIP-seq
MIRT2125086	hsa-miR-4691-5p	CLIP-seq
MIRT2640477	hsa-miR-4694-3p	CLIP-seq
MIRT2640478	hsa-miR-4722-5p	CLIP-seq
MIRT2640479	hsa-miR-4757-5p	CLIP-seq
MIRT2125087	hsa-miR-4793-5p	CLIP-seq
MIRT1417094	hsa-miR-520a-5p	CLIP-seq
MIRT2640481	hsa-miR-522	CLIP-seq
MIRT1417095	hsa-miR-525-5p	CLIP-seq
MIRT2125088	hsa-miR-545	CLIP-seq
MIRT2640482	hsa-miR-549	CLIP-seq
MIRT2347516	hsa-miR-590-3p	CLIP-seq
MIRT2640484	hsa-miR-590-5p	CLIP-seq
MIRT2640485	hsa-miR-613	CLIP-seq
MIRT2125089	hsa-miR-628-3p	CLIP-seq
MIRT2640486	hsa-miR-653	CLIP-seq
MIRT2640487	hsa-miR-938	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IDA	22405347, 22822062
GO:0000287	Function	Magnesium ion binding	TAS	19794497
GO:0003677	Function	DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IDA	22822062
GO:0003714	Function	Transcription corepressor activity	TAS	10764746
GO:0003824	Function	Catalytic activity	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	18039968, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	22908287
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	22908287
GO:0005737	Component	Cytoplasm	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IBA
GO:0006302	Process	Double-strand break repair	IDA	19794497
GO:0006302	Process	Double-strand break repair	IMP	21030584
GO:0006974	Process	DNA damage response	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	10764746
GO:0016235	Component	Aggresome	IDA
GO:0016604	Component	Nuclear body	IDA
GO:0016605	Component	PML body	IBA
GO:0016605	Component	PML body	IDA	19794497
GO:0016605	Component	PML body	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030145	Function	Manganese ion binding	IDA	22822062
GO:0036317	Function	Tyrosyl-RNA phosphodiesterase activity	IDA	22908287
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048666	Process	Neuron development	IMP	24658003
GO:0070259	Function	Tyrosyl-DNA phosphodiesterase activity	IEA
GO:0070260	Function	5'-tyrosyl-DNA phosphodiesterase activity	IBA
GO:0070260	Function	5'-tyrosyl-DNA phosphodiesterase activity	IDA	19794497, 22405347, 22822062
GO:0070260	Function	5'-tyrosyl-DNA phosphodiesterase activity	IMP	21030584

MIM	HGNC	e!Ensembl
605764	17768	ENSG00000111802

O95551

Protein name

Tyrosyl-DNA phosphodiesterase 2 (Tyr-DNA phosphodiesterase 2) (hTDP2) (EC 3.1.4.-) (5'-tyrosyl-DNA phosphodiesterase) (5'-Tyr-DNA phosphodiesterase) (ETS1-associated protein 2) (ETS1-associated protein II) (EAPII) (TRAF and TNF receptor-associated protein

Protein function

DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a 5'-phosphodiester bond, giving rise to DNA with a free 5' phosphate. Catalyzes the hydrolysis of dead-end complexes between DNA and the topoisomeras

PDB

5INO , 5J3P , 5J3S , 6Q00 , 6Q01

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14555	UBA_4	28 → 67		Domain
PF03372	Exo_endo_phos	117 → 351	Endonuclease/Exonuclease/phosphatase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:10764746). Highly expressed in various brain regions, including the frontal and occipital lobes, the hippocampus, the striatum and the cerebellum (PubMed:24658003). {ECO:0000269|PubMed:10764746, ECO:0000269|Pub

Sequence

MELGSCLEGGREAAEEEGEPEVKKRRLLCVEFASVASCDAAVAQCFLAENDWEMERALNS
YFEPPVEESALERRPETISEPKTYVDLTNEETTDSTTSKISPSEDTQQENGSMFSLITWN
IDGLDLNNLSERARGVCSYLALYSPDVIFLQEVIPPYYSYLKKRSSNYEIITGHEEGYFT
AIMLKKSRVKLKSQEIIPFPSTKMMRNLLCVHVNVSGNELCLMTSHLESTRGHAAERMNQ
LKMVLKKMQEAPESATVIFAGDTNLRDREVTRCGGLPNNIVDVWEFLGKPKHCQYTWDTQ
MNSNLGITAACKLRFDRIFFRAAAEEGHIIPRSLDLLGLEKLDCGRFPSDHWGLLCNLDI
IL

Sequence length

362

Interactions

View interactions

	Reactome
			Nonhomologous End-Joining (NHEJ)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebellar ataxia	Pathogenic	rs1240335250	RCV001250405	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Pathogenic	rs372245668	RCV005893910	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia, autosomal recessive 23	Pathogenic; Likely pathogenic	rs142438588, rs1778000792, rs2127617300, rs372245668, rs879255601	RCV003149159 RCV001785058 RCV001783860 RCV000211705 RCV000211707	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA, EPILEPSY, INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TDP2-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (55)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	26621817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	31410782		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Block	Atrioventricular block	BEFREE	23995044, 25426817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency	Cerebellar Ataxia, Epilepsy, Mental Retardation	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28794467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23433115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21478903, 22508727, 26701725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26255626	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	26621817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	26621817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	31505315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	37558815	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentinogenesis imperfecta without osteogenesis imperfecta	Dentinogenesis Imperfecta	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	28393177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	15717286, 22262880, 27484312, 30593505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	16600991, 22262880, 22750057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	GWASCAT_DG	26621817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	37558815	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	27484312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	29747023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31410782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	22262880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	28794467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	25426817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21478903, 22508727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29747023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	26621817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21478903, 22508727, 26701725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21478903, 21926483, 29574079, 30522956, 30593505, 30998359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	26621817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21478903		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30555231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21926483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21478903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23433115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	23433115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	22532838, 30593505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia 23	Spinocerebellar ataxia	Pubtator	37558815	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23	Spinocerebellar Ataxia	ORPHANET_DG	24658003		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23	Spinocerebellar Ataxia	BEFREE	31410782		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	31410782		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23	Spinocerebellar Ataxia	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	37558815	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

TDP2 (tyrosyl-DNA phosphodiesterase 2)