TDP1 (tyrosyl-DNA phosphodiesterase 1)

Gene

• Entrez ID: 55775
• Gene name: Tyrosyl-DNA phosphodiesterase 1
• Gene symbol: TDP1
• Synonyms (NCBI Gene): -
• Chromosome: 14
• Chromosome location: 14q32.11
• Summary: The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs119467003	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs769278668	AA>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1376503364	T>G	Likely-pathogenic	Non coding transcript variant, missense variant, initiator codon variant, 5 prime UTR variant
rs1566929134	TCCAGAACTGTATGGAAGTAAAGGTGAGACACAGATAAAGGAAAACCACGGGTGGATATGCATAAGAAAAACAAACAGAGCCCAGGAGAAGCCTTTGGTCTCAGTGGGATCCTGGCTCATGGAACCCTCTGGAAGCTCAAGTTTGCAGAGGGCCCTTTGCCAGCCTGTCTGGGGCCTTGTAGCCACTGGTTAGTCTTGGAATCCCTTTGCACTCCTATAATTACTATACAGATCCTTCCTGACTTACACTGGGGC	Likely-pathogenic	Non coding transcript variant, splice donor variant, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002780	hsa-miR-1-3p	Microarray	15685193
MIRT002780	hsa-miR-1-3p	Microarray;Other	15685193
MIRT024260	hsa-miR-215-5p	Microarray	19074876
MIRT026291	hsa-miR-192-5p	Microarray	19074876
MIRT044817	hsa-miR-320a	CLASH	23622248
MIRT041491	hsa-miR-193b-3p	CLASH	23622248
MIRT1416979	hsa-miR-1184	CLIP-seq
MIRT1416980	hsa-miR-1193	CLIP-seq
MIRT1416981	hsa-miR-1205	CLIP-seq
MIRT1416982	hsa-miR-1224-5p	CLIP-seq
MIRT1416983	hsa-miR-1267	CLIP-seq
MIRT1416984	hsa-miR-127-5p	CLIP-seq
MIRT1416985	hsa-miR-128	CLIP-seq
MIRT1416986	hsa-miR-1291	CLIP-seq
MIRT1416987	hsa-miR-1294	CLIP-seq
MIRT1416988	hsa-miR-1299	CLIP-seq
MIRT1416989	hsa-miR-146b-3p	CLIP-seq
MIRT1416990	hsa-miR-1827	CLIP-seq
MIRT1416991	hsa-miR-185	CLIP-seq
MIRT1416992	hsa-miR-18a	CLIP-seq
MIRT1416993	hsa-miR-18b	CLIP-seq
MIRT1416994	hsa-miR-1909	CLIP-seq
MIRT1416995	hsa-miR-1976	CLIP-seq
MIRT1416996	hsa-miR-214	CLIP-seq
MIRT1416997	hsa-miR-22	CLIP-seq
MIRT1416998	hsa-miR-24	CLIP-seq
MIRT1416999	hsa-miR-27a	CLIP-seq
MIRT1417000	hsa-miR-27b	CLIP-seq
MIRT1417001	hsa-miR-3120-5p	CLIP-seq
MIRT1417002	hsa-miR-3150b-3p	CLIP-seq
MIRT1417003	hsa-miR-3173-5p	CLIP-seq
MIRT1417004	hsa-miR-3179	CLIP-seq
MIRT1417005	hsa-miR-3190	CLIP-seq
MIRT1417006	hsa-miR-3202	CLIP-seq
MIRT1417007	hsa-miR-320b	CLIP-seq
MIRT1417008	hsa-miR-320c	CLIP-seq
MIRT1417009	hsa-miR-320d	CLIP-seq
MIRT1417010	hsa-miR-339-5p	CLIP-seq
MIRT1417011	hsa-miR-3545-3p	CLIP-seq
MIRT1417012	hsa-miR-3616-3p	CLIP-seq
MIRT1417013	hsa-miR-3619-5p	CLIP-seq
MIRT1417014	hsa-miR-3647-3p	CLIP-seq
MIRT1417015	hsa-miR-3689a-3p	CLIP-seq
MIRT1417016	hsa-miR-3689c	CLIP-seq
MIRT1417017	hsa-miR-370	CLIP-seq
MIRT1417018	hsa-miR-3919	CLIP-seq
MIRT1417019	hsa-miR-3978	CLIP-seq
MIRT1417020	hsa-miR-4270	CLIP-seq
MIRT1417021	hsa-miR-4284	CLIP-seq
MIRT1417022	hsa-miR-4287	CLIP-seq
MIRT1417023	hsa-miR-4306	CLIP-seq
MIRT1417024	hsa-miR-4316	CLIP-seq
MIRT1417025	hsa-miR-4330	CLIP-seq
MIRT1417026	hsa-miR-4421	CLIP-seq
MIRT1417027	hsa-miR-4429	CLIP-seq
MIRT1417028	hsa-miR-4434	CLIP-seq
MIRT1417029	hsa-miR-4441	CLIP-seq
MIRT1417030	hsa-miR-4469	CLIP-seq
MIRT1417031	hsa-miR-4474-3p	CLIP-seq
MIRT1417032	hsa-miR-4516	CLIP-seq
MIRT1417033	hsa-miR-4530	CLIP-seq
MIRT1417034	hsa-miR-4533	CLIP-seq
MIRT1417035	hsa-miR-4534	CLIP-seq
MIRT1417036	hsa-miR-4539	CLIP-seq
MIRT1417037	hsa-miR-4644	CLIP-seq
MIRT1417038	hsa-miR-4656	CLIP-seq
MIRT1417039	hsa-miR-4661-3p	CLIP-seq
MIRT1417040	hsa-miR-4670-5p	CLIP-seq
MIRT1417041	hsa-miR-4677-3p	CLIP-seq
MIRT1417042	hsa-miR-4685-3p	CLIP-seq
MIRT1417043	hsa-miR-4716-5p	CLIP-seq
MIRT1417044	hsa-miR-4728-5p	CLIP-seq
MIRT1417045	hsa-miR-4735-3p	CLIP-seq
MIRT1417046	hsa-miR-4738-5p	CLIP-seq
MIRT1417047	hsa-miR-4751	CLIP-seq
MIRT1417048	hsa-miR-4755-3p	CLIP-seq
MIRT1417049	hsa-miR-4756-3p	CLIP-seq
MIRT1417050	hsa-miR-4761-3p	CLIP-seq
MIRT1417051	hsa-miR-4766-5p	CLIP-seq
MIRT1417052	hsa-miR-4782-5p	CLIP-seq
MIRT1417053	hsa-miR-4784	CLIP-seq
MIRT1417054	hsa-miR-4802-5p	CLIP-seq
MIRT1417055	hsa-miR-4803	CLIP-seq
MIRT1417056	hsa-miR-494	CLIP-seq
MIRT1417057	hsa-miR-510	CLIP-seq
MIRT1417058	hsa-miR-512-5p	CLIP-seq
MIRT1417059	hsa-miR-513a-3p	CLIP-seq
MIRT1417060	hsa-miR-513a-5p	CLIP-seq
MIRT1417061	hsa-miR-515-3p	CLIP-seq
MIRT1417062	hsa-miR-516b	CLIP-seq
MIRT1417063	hsa-miR-519e	CLIP-seq
MIRT1417064	hsa-miR-520d-5p	CLIP-seq
MIRT1417065	hsa-miR-524-5p	CLIP-seq
MIRT1417066	hsa-miR-548l	CLIP-seq
MIRT1417067	hsa-miR-548n	CLIP-seq
MIRT1417068	hsa-miR-548t	CLIP-seq
MIRT1417069	hsa-miR-600	CLIP-seq
MIRT1417070	hsa-miR-671-5p	CLIP-seq
MIRT1417071	hsa-miR-761	CLIP-seq
MIRT1417072	hsa-miR-766	CLIP-seq
MIRT1417073	hsa-miR-885-5p	CLIP-seq
MIRT1417074	hsa-miR-1323	CLIP-seq
MIRT1417007	hsa-miR-320b	CLIP-seq
MIRT1417008	hsa-miR-320c	CLIP-seq
MIRT1417009	hsa-miR-320d	CLIP-seq
MIRT1417012	hsa-miR-3616-3p	CLIP-seq
MIRT1417075	hsa-miR-3915	CLIP-seq
MIRT1417076	hsa-miR-3928	CLIP-seq
MIRT1417027	hsa-miR-4429	CLIP-seq
MIRT1417050	hsa-miR-4761-3p	CLIP-seq
MIRT1417077	hsa-miR-488	CLIP-seq
MIRT1417057	hsa-miR-510	CLIP-seq
MIRT1417058	hsa-miR-512-5p	CLIP-seq
MIRT1417078	hsa-miR-548o	CLIP-seq
MIRT1417079	hsa-miR-548u	CLIP-seq
MIRT2125074	hsa-miR-4795-5p	CLIP-seq
MIRT2125075	hsa-miR-1324	CLIP-seq
MIRT2125076	hsa-miR-3138	CLIP-seq
MIRT2125077	hsa-miR-3942-3p	CLIP-seq
MIRT2125078	hsa-miR-4475	CLIP-seq
MIRT2125079	hsa-miR-4477b	CLIP-seq
MIRT2125080	hsa-miR-4712-5p	CLIP-seq
MIRT1417043	hsa-miR-4716-5p	CLIP-seq
MIRT2125074	hsa-miR-4795-5p	CLIP-seq
MIRT1417064	hsa-miR-520d-5p	CLIP-seq
MIRT1417065	hsa-miR-524-5p	CLIP-seq
MIRT2125081	hsa-miR-770-5p	CLIP-seq
MIRT1416982	hsa-miR-1224-5p	CLIP-seq
MIRT1416984	hsa-miR-127-5p	CLIP-seq
MIRT1416987	hsa-miR-1294	CLIP-seq
MIRT2347496	hsa-miR-1322	CLIP-seq
MIRT1416991	hsa-miR-185	CLIP-seq
MIRT2347497	hsa-miR-19a	CLIP-seq
MIRT2347498	hsa-miR-19b	CLIP-seq
MIRT1417002	hsa-miR-3150b-3p	CLIP-seq
MIRT1417007	hsa-miR-320b	CLIP-seq
MIRT1417008	hsa-miR-320c	CLIP-seq
MIRT1417009	hsa-miR-320d	CLIP-seq
MIRT2347499	hsa-miR-330-3p	CLIP-seq
MIRT1417012	hsa-miR-3616-3p	CLIP-seq
MIRT1417023	hsa-miR-4306	CLIP-seq
MIRT1417024	hsa-miR-4316	CLIP-seq
MIRT1417027	hsa-miR-4429	CLIP-seq
MIRT2347500	hsa-miR-4432	CLIP-seq
MIRT1417028	hsa-miR-4434	CLIP-seq
MIRT1417032	hsa-miR-4516	CLIP-seq
MIRT1417037	hsa-miR-4644	CLIP-seq
MIRT2347501	hsa-miR-4658	CLIP-seq
MIRT2347502	hsa-miR-4666-3p	CLIP-seq
MIRT1417040	hsa-miR-4670-5p	CLIP-seq
MIRT2347503	hsa-miR-4731-3p	CLIP-seq
MIRT1417047	hsa-miR-4751	CLIP-seq
MIRT2347504	hsa-miR-4758-5p	CLIP-seq
MIRT1417050	hsa-miR-4761-3p	CLIP-seq
MIRT1417051	hsa-miR-4766-5p	CLIP-seq
MIRT2347505	hsa-miR-4775	CLIP-seq
MIRT1417053	hsa-miR-4784	CLIP-seq
MIRT2347506	hsa-miR-4801	CLIP-seq
MIRT2347507	hsa-miR-499-5p	CLIP-seq
MIRT1417057	hsa-miR-510	CLIP-seq
MIRT2347508	hsa-miR-512-3p	CLIP-seq
MIRT1417058	hsa-miR-512-5p	CLIP-seq
MIRT2347509	hsa-miR-590-3p	CLIP-seq
MIRT2347510	hsa-miR-628-5p	CLIP-seq
MIRT2461285	hsa-miR-3663-5p	CLIP-seq
MIRT2461286	hsa-miR-4281	CLIP-seq
MIRT1417056	hsa-miR-494	CLIP-seq
MIRT2640462	hsa-miR-3646	CLIP-seq
MIRT1417056	hsa-miR-494	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000012	Process	Single strand break repair	IDA	15811850
GO:0000012	Process	Single strand break repair	IEA
GO:0000012	Process	Single strand break repair	IMP	17600775
GO:0003690	Function	Double-stranded DNA binding	IBA
GO:0003690	Function	Double-stranded DNA binding	IDA	15811850
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IDA	15811850
GO:0004518	Function	Nuclease activity	IEA
GO:0004527	Function	Exonuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	15744309, 19851285, 24981860, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	17948061
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006281	Process	DNA repair	IBA
GO:0006281	Process	DNA repair	IDA	17948061
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IDA	12023295
GO:0006974	Process	DNA damage response	IEA
GO:0008081	Function	Phosphoric diester hydrolase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0017005	Function	3'-tyrosyl-DNA phosphodiesterase activity	IBA
GO:0017005	Function	3'-tyrosyl-DNA phosphodiesterase activity	IDA	17118488, 17576665, 17948061, 22822062

Other IDs

• MIM: 607198
• HGNC: 18884
• e!Ensembl: ENSG00000042088

Protein

• UniProt ID: Q9NUW8
• Protein name: Tyrosyl-DNA phosphodiesterase 1 (Tyr-DNA phosphodiesterase 1) (EC 3.1.4.-)
• Protein function: DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a 3'-phosphodiester bond, giving rise to DNA with a free 3' phosphate. Catalyzes the hydrolysis of dead-end complexes between DNA and the topoisomeras
• PDB: 1JY1, 1MU7, 1MU9, 1NOP, 1QZQ, 1RFF, 1RFI, 1RG1, 1RG2, 1RGT, 1RGU, 1RH0, 5NW9, 5NWA, 6DHU, 6DIE, 6DIH, 6DIM, 6DJD, 6DJE, 6DJF, 6DJG, 6DJH, 6DJI, 6DJJ, 6MJ5, 6MYZ, 6MZ0, 6N0D, 6N0N, 6N0O, 6N0R, 6N17, 6N19, 6W4R, 6W7J, 6W7K, 6W7L, 7UFY, 7UFZ, 8CVQ, 8CW2, 8UV1, 8UZV, 8UZZ, 8V0B, 8V0C, 9B3B
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06087	Tyr-DNA_phospho	165 → 582	Tyrosyl-DNA phosphodiesterase	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. Similar expression throughout the central nervous system (whole brain, amygdala, caudate nucleus, cerebellum, cerebral cortex, frontal lobe, hippocampus, medulla oblongata, occipital lobe, putamen, substantia ni
• Sequence:

  MSQEGDYGRWTISSSDESEEEKPKPDKPSTSSLLCARQGAANEPRYTCSEAQKAAHKRKI
  SPVKFSNTDSVLPPKRQKSGSQEDLGWCLSSSDDELQPEMPQKQAEKVVIKKEKDISAPN
  DGTAQRTENHGAPACHRLKEEEDEYETSGEGQDIWDMLDKGNPFQFYLTRVSGVKPKYNS
  GALHIKDILSPLFGTLVSSAQFNYCFDVDWLVKQYPPEFRKKPILLVHGDKREAKAHLHA
  QAKPYENISLCQAKLDIAFGTHHTKMMLLLYEEGLRVVIHTSNLIHADWHQKTQGIWLSP
  LYPRIADGTHKSGESPTHFKADLISYLMAYNAPSLKEWIDVIHKHDLSETNVYLIGSTPG
  RFQGSQKDNWGHFRLKKLLKDHASSMPNAESWPVVGQFSSVGSLGADESKWLCSEFKESM
  LTLGKESKTPGKSSVPLYLIYPSVENVRTSLEGYPAGGSLPYSIQTAEKQNWLHSYFHKW
  SAETSGRSNAMPHIKTYMRPSPDFSKIAWFLVTSANLSKAAWGALEKNGTQLMIRSYELG
  VLFLPSAFGLDSFKVKQKFFAGSQEPMATFPVPYDLPPELYGSKDRPWIWNIPYVKAPDT
  HGNMWVPS

• Sequence length: 608

Pathways

KEGG:

Base excision repair

Reactome:

Nonhomologous End-Joining (NHEJ)

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	Likely pathogenic; Pathogenic	rs370121773, rs119467003	RCV001332247 RCV000003593	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive cerebellar ataxia	Benign; Uncertain significance; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOROIDAL MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY IN ASSOCIATION WITH HEREDITARY ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TDP1-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	28993637		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22792076, 29760282		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	12244316, 15647511, 15744309, 15920477, 16935573, 17045754, 17948061, 20687496, 27470939, 29898404, 31723605, 31831297		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	LHGDN	12244316, 16935573, 17948061		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25117203, 31783818		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30947698	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24355542		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	22503546	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	22503546	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	30836997	Associate	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	27551064	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25522766, 28180300		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25522766	Associate	★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	31383554	Associate	★☆☆☆☆ Found in Text Mining only
epithelioid cell intraocular melanoma	Epithelioid melanoma	GWASCAT_DG	31626034		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	29760282		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	23852793		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24335147	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31547492		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31547492		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	31554700		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	28993637		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	18347181, 19604089		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24355542	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25117203, 31783818		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24355542, 28697309, 28802254		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28802254, 29597329, 30523770, 31004352, 31199869, 31619021, 31698852, 31831297		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	25117203		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	27470939		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	31383554	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25117203, 30396105		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31831297		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	16141202, 26578593	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	15744309, 17045754, 17948061, 22232551, 25609251		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	18347181, 19604089		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	19604089	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17118488		★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	31383554		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	23913164, 27551064, 29898404		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	23913164, 29898404	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	27551064	Stimulate	★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	28974547	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia autosomal recessive 1	Spinocerebellar ataxia	Pubtator	15647511, 15920477, 19505854, 22155078	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia autosomal recessive with axonal neuropathy	Spinocerebellar ataxia	Pubtator	25609251, 25841101, 26578593	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia with axonal neuropathy type 1	Spinocerebellar Ataxia, With Axonal Neuropathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia with axonal neuropathy type 1	Spinocerebellar Ataxia, With Axonal Neuropathy	BEFREE	31182267		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY	Spinocerebellar Ataxia, WITH AXONAL NEUROPATHY	BEFREE	12244316, 15647511, 15920477, 16935573, 17045754, 17948061, 27470939, 29523818, 29898404, 31723605, 31831297		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY	Spinocerebellar Ataxia, WITH AXONAL NEUROPATHY	UNIPROT_DG	12244316, 15647511, 15920477, 16141202, 17948061		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY	Spinocerebellar Ataxia, WITH AXONAL NEUROPATHY	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY	Spinocerebellar Ataxia, WITH AXONAL NEUROPATHY	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	15333697, 16141202	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar tract degeneration	Spinocerebellar Degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	23852793	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	31626034		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uveal melanoma	Uveal Melanoma	GWASCAT_DG	31626034		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)