APTX (aprataxin)

Gene

• Entrez ID: 54840
• Gene name: Aprataxin
• Gene symbol: APTX
• Synonyms (NCBI Gene): AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT
• Chromosome: 9
• Chromosome location: 9p21.1
• Summary: This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene hav

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894103	C>G,T	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant, missense variant
rs121908131	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs121908132	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs121908133	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs141195622	A>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, synonymous variant, intron variant, coding sequence variant, missense variant
rs141493373	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance	3 prime UTR variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant, intron variant, coding sequence variant, missense variant
rs144076460	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs146487634	C>A	Likely-pathogenic	5 prime UTR variant, intron variant, genic upstream transcript variant, splice donor variant, non coding transcript variant
rs201912053	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs267606665	A>G	Pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs587776593	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs587776594	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs754477154	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs773393618	A>G	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs904293109	T>C	Pathogenic	3 prime UTR variant, splice acceptor variant, non coding transcript variant, intron variant
rs1114167423	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1563945076	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1563963464	C>A,T	Pathogenic	Splice acceptor variant
rs1563967576	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, intron variant
rs1587330671	C>T	Pathogenic	3 prime UTR variant, intron variant, non coding transcript variant, splice acceptor variant
rs1587435802	G>-	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1587449274	->CCAG	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT043736	hsa-miR-342-3p	CLASH	23622248
MIRT676375	hsa-miR-3929	HITS-CLIP	23824327
MIRT676374	hsa-miR-4419b	HITS-CLIP	23824327
MIRT676373	hsa-miR-4478	HITS-CLIP	23824327
MIRT676372	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT631168	hsa-miR-5693	HITS-CLIP	23824327
MIRT676371	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT676370	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT676369	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT631167	hsa-miR-4284	HITS-CLIP	23824327
MIRT631166	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT631165	hsa-miR-7977	HITS-CLIP	23824327
MIRT636965	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT636964	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT636963	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT636962	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT636961	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT636960	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT636959	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT636958	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT636957	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT636956	hsa-miR-1281	HITS-CLIP	23824327
MIRT636955	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT636954	hsa-miR-1976	HITS-CLIP	23824327
MIRT636953	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT636952	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT636951	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT636950	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT636949	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT636948	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT636947	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT636945	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT636946	hsa-miR-4279	HITS-CLIP	23824327
MIRT631168	hsa-miR-5693	HITS-CLIP	23824327
MIRT631167	hsa-miR-4284	HITS-CLIP	23824327
MIRT631166	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT631165	hsa-miR-7977	HITS-CLIP	23824327
MIRT636956	hsa-miR-1281	HITS-CLIP	27418678
MIRT636953	hsa-miR-2276-3p	HITS-CLIP	27418678
MIRT631167	hsa-miR-4284	HITS-CLIP	27418678
MIRT636964	hsa-miR-4485-5p	HITS-CLIP	27418678
MIRT631168	hsa-miR-5693	HITS-CLIP	27418678
MIRT676375	hsa-miR-3929	HITS-CLIP	23824327
MIRT676374	hsa-miR-4419b	HITS-CLIP	23824327
MIRT676373	hsa-miR-4478	HITS-CLIP	23824327
MIRT676372	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT631168	hsa-miR-5693	HITS-CLIP	23824327
MIRT676371	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT676370	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT676369	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT631167	hsa-miR-4284	HITS-CLIP	23824327
MIRT631166	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT631165	hsa-miR-7977	HITS-CLIP	23824327
MIRT636965	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT636964	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT636963	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT636962	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT636961	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT636960	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT636959	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT636958	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT636957	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT636956	hsa-miR-1281	HITS-CLIP	23824327
MIRT636955	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT636954	hsa-miR-1976	HITS-CLIP	23824327
MIRT636953	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT636952	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT636951	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT636950	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT636949	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT636948	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT636947	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT636945	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT636946	hsa-miR-4279	HITS-CLIP	23824327
MIRT631168	hsa-miR-5693	HITS-CLIP	23824327
MIRT631167	hsa-miR-4284	HITS-CLIP	23824327
MIRT631166	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT631165	hsa-miR-7977	HITS-CLIP	23824327
MIRT791332	hsa-miR-140-3p	CLIP-seq
MIRT791333	hsa-miR-15a	CLIP-seq
MIRT791334	hsa-miR-15b	CLIP-seq
MIRT791335	hsa-miR-16	CLIP-seq
MIRT791336	hsa-miR-195	CLIP-seq
MIRT791337	hsa-miR-3155	CLIP-seq
MIRT791338	hsa-miR-3155b	CLIP-seq
MIRT791339	hsa-miR-3194-3p	CLIP-seq
MIRT791340	hsa-miR-3667-5p	CLIP-seq
MIRT791341	hsa-miR-424	CLIP-seq
MIRT791342	hsa-miR-4660	CLIP-seq
MIRT791343	hsa-miR-4717-5p	CLIP-seq
MIRT791344	hsa-miR-4777-5p	CLIP-seq
MIRT791345	hsa-miR-484	CLIP-seq
MIRT791346	hsa-miR-497	CLIP-seq
MIRT791347	hsa-miR-570	CLIP-seq
MIRT791348	hsa-miR-646	CLIP-seq
MIRT791349	hsa-miR-760	CLIP-seq
MIRT1933438	hsa-miR-3154	CLIP-seq
MIRT791340	hsa-miR-3667-5p	CLIP-seq
MIRT2477098	hsa-miR-1185	CLIP-seq
MIRT2477099	hsa-miR-1200	CLIP-seq
MIRT2477100	hsa-miR-1226	CLIP-seq
MIRT2477101	hsa-miR-1237	CLIP-seq
MIRT2477102	hsa-miR-1248	CLIP-seq
MIRT2477103	hsa-miR-1253	CLIP-seq
MIRT2477104	hsa-miR-3123	CLIP-seq
MIRT2477105	hsa-miR-3140-5p	CLIP-seq
MIRT1933438	hsa-miR-3154	CLIP-seq
MIRT2477106	hsa-miR-3192	CLIP-seq
MIRT791339	hsa-miR-3194-3p	CLIP-seq
MIRT2477107	hsa-miR-323b-5p	CLIP-seq
MIRT2477108	hsa-miR-331-5p	CLIP-seq
MIRT2477109	hsa-miR-3611	CLIP-seq
MIRT791340	hsa-miR-3667-5p	CLIP-seq
MIRT2477110	hsa-miR-3679-5p	CLIP-seq
MIRT2477111	hsa-miR-3919	CLIP-seq
MIRT2477112	hsa-miR-3920	CLIP-seq
MIRT2477113	hsa-miR-425	CLIP-seq
MIRT2477114	hsa-miR-4251	CLIP-seq
MIRT2477115	hsa-miR-4289	CLIP-seq
MIRT2477116	hsa-miR-4314	CLIP-seq
MIRT2477117	hsa-miR-4324	CLIP-seq
MIRT2477118	hsa-miR-4426	CLIP-seq
MIRT2477119	hsa-miR-4474-3p	CLIP-seq
MIRT2477120	hsa-miR-4646-5p	CLIP-seq
MIRT2477121	hsa-miR-4647	CLIP-seq
MIRT2477122	hsa-miR-4662b	CLIP-seq
MIRT2477123	hsa-miR-4691-3p	CLIP-seq
MIRT2477124	hsa-miR-4699-5p	CLIP-seq
MIRT2477125	hsa-miR-4701-5p	CLIP-seq
MIRT791343	hsa-miR-4717-5p	CLIP-seq
MIRT2477126	hsa-miR-4733-3p	CLIP-seq
MIRT2477127	hsa-miR-4733-5p	CLIP-seq
MIRT791344	hsa-miR-4777-5p	CLIP-seq
MIRT2477128	hsa-miR-4797-5p	CLIP-seq
MIRT2477129	hsa-miR-500a	CLIP-seq
MIRT2477130	hsa-miR-513a-3p	CLIP-seq
MIRT2477131	hsa-miR-541	CLIP-seq
MIRT2477132	hsa-miR-544b	CLIP-seq
MIRT2477133	hsa-miR-548m	CLIP-seq
MIRT2477134	hsa-miR-568	CLIP-seq
MIRT791347	hsa-miR-570	CLIP-seq
MIRT2477135	hsa-miR-588	CLIP-seq
MIRT2477136	hsa-miR-654-5p	CLIP-seq
MIRT2477137	hsa-miR-658	CLIP-seq
MIRT2477138	hsa-miR-663b	CLIP-seq
MIRT2477139	hsa-miR-758	CLIP-seq
MIRT2477098	hsa-miR-1185	CLIP-seq
MIRT2477100	hsa-miR-1226	CLIP-seq
MIRT2477101	hsa-miR-1237	CLIP-seq
MIRT2477102	hsa-miR-1248	CLIP-seq
MIRT2477104	hsa-miR-3123	CLIP-seq
MIRT2477105	hsa-miR-3140-5p	CLIP-seq
MIRT791339	hsa-miR-3194-3p	CLIP-seq
MIRT2477107	hsa-miR-323b-5p	CLIP-seq
MIRT791340	hsa-miR-3667-5p	CLIP-seq
MIRT2477110	hsa-miR-3679-5p	CLIP-seq
MIRT2477111	hsa-miR-3919	CLIP-seq
MIRT2477112	hsa-miR-3920	CLIP-seq
MIRT2477113	hsa-miR-425	CLIP-seq
MIRT2477115	hsa-miR-4289	CLIP-seq
MIRT2477118	hsa-miR-4426	CLIP-seq
MIRT2477119	hsa-miR-4474-3p	CLIP-seq
MIRT2477121	hsa-miR-4647	CLIP-seq
MIRT2477122	hsa-miR-4662b	CLIP-seq
MIRT2675194	hsa-miR-4690-3p	CLIP-seq
MIRT2477123	hsa-miR-4691-3p	CLIP-seq
MIRT2477124	hsa-miR-4699-5p	CLIP-seq
MIRT2477125	hsa-miR-4701-5p	CLIP-seq
MIRT791343	hsa-miR-4717-5p	CLIP-seq
MIRT2477126	hsa-miR-4733-3p	CLIP-seq
MIRT2477127	hsa-miR-4733-5p	CLIP-seq
MIRT791344	hsa-miR-4777-5p	CLIP-seq
MIRT2477128	hsa-miR-4797-5p	CLIP-seq
MIRT2477129	hsa-miR-500a	CLIP-seq
MIRT2477131	hsa-miR-541	CLIP-seq
MIRT2477133	hsa-miR-548m	CLIP-seq
MIRT2477134	hsa-miR-568	CLIP-seq
MIRT791347	hsa-miR-570	CLIP-seq
MIRT2477135	hsa-miR-588	CLIP-seq
MIRT2477136	hsa-miR-654-5p	CLIP-seq
MIRT2477137	hsa-miR-658	CLIP-seq
MIRT2477138	hsa-miR-663b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000012	Process	Single strand break repair	IBA
GO:0000012	Process	Single strand break repair	IDA	14755728, 17519253
GO:0000012	Process	Single strand break repair	IEA
GO:0000012	Process	Single strand break repair	IMP	15044383
GO:0000785	Component	Chromatin	IDA	15044383, 20008512
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	15044383
GO:0003684	Function	Damaged DNA binding	IDA	14755728
GO:0003690	Function	Double-stranded DNA binding	IDA	16547001, 17276982
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0003725	Function	Double-stranded RNA binding	IBA
GO:0003725	Function	Double-stranded RNA binding	IDA	16547001
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	14755728, 15044383, 15380105, 15555565, 16439205, 16713569, 16777843, 25416956, 25910212, 32296183, 33961781, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	15044383, 16777843
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	IDA	15044383, 16777843
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008967	Function	Phosphoglycolate phosphatase activity	IDA	17519253
GO:0016787	Function	Hydrolase activity	IEA
GO:0030983	Function	Mismatched DNA binding	IBA
GO:0031647	Process	Regulation of protein stability	IMP	16777843
GO:0033699	Function	DNA 5'-adenosine monophosphate hydrolase activity	IBA
GO:0033699	Function	DNA 5'-adenosine monophosphate hydrolase activity	IDA	16547001, 16964241, 17276982, 17519253
GO:0033699	Function	DNA 5'-adenosine monophosphate hydrolase activity	IEA
GO:0046403	Function	Polynucleotide 3'-phosphatase activity	IDA	17519253
GO:0046872	Function	Metal ion binding	IEA
GO:0051219	Function	Phosphoprotein binding	IPI	20008512
GO:0120108	Function	DNA-3'-diphospho-5'-guanosine diphosphatase	IEA
GO:1990165	Function	Single-strand break-containing DNA binding	IBA

Other IDs

• MIM: 606350
• HGNC: 15984
• e!Ensembl: ENSG00000137074

Protein

• UniProt ID: Q7Z2E3
• Protein name: Aprataxin (EC 3.6.1.71) (EC 3.6.1.72) (Forkhead-associated domain histidine triad-like protein) (FHA-HIT)
• Protein function: DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair (PubMed:15044383, PubMed:15380105, PubMed:16964241, PubMed:17276982, PubMed:24362567). Resolves abortive DNA ligation interme
• PDB: 3KT9, 4NDF, 4NDG, 4NDH, 4NDI, 6CVO, 6CVP, 6CVQ, 6CVR, 6CVS, 6CVT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17913	FHA_2	19 → 115	FHA domain	Domain
  PF11969	DcpS_C	181 → 292		Family
  PF16278	zf-C2HE	297 → 356	C2HE / C2H2 / C2HC zinc-binding finger	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed; detected in liver, kidney and lymph node (at protein level) (PubMed:14755728). Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2 (at protein level) (PubMed:14755728). Widely ex
• Sequence:

  MSNVNLSVSDFWRVMMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQ
  LKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVKLQPGQVLHMVNELYPYIVEFEEEAKN
  PGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIKKESLGH
  WSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKH
  MHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEY
  FLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ

• Sequence length: 356

Pathways

KEGG:

Base excision repair

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
APTX-related disorder	Pathogenic	rs104894103	RCV004757946	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	Pathogenic; Likely pathogenic	rs2118688818, rs770007531, rs1225927323, rs2118686800, rs2489453836, rs587776593, rs121908131, rs587776594, rs121908132, rs121908133, rs1587330671, rs104894103, rs267606665, rs2489448115, rs1563963464, rs201912053, rs1114167423, rs904293109, rs1563945076, rs1015321377, rs748165574	RCV001647163 RCV001784753 RCV001807978 RCV001814648 RCV002284985 RCV000004675 RCV000004676 RCV000004677 RCV000004678 RCV000004679 RCV000004680 RCV000004681 RCV000004683 RCV003227536 RCV003990512 RCV000616687 RCV000490800 RCV000501832 RCV000785175 RCV000786024 RCV001195418 RCV001814301	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy	Pathogenic	rs778258042	RCV003484415	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary ataxia	Pathogenic	rs104894103	RCV005624671	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA-OCULOMOTOR APRAXIA TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coenzyme Q10 deficiency, Oculomotor Apraxia Type	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coenzyme Q10 deficiency, primary, 1	Uncertain significance	ClinVar CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET ATAXIA WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GWASCAT_DG	26580837		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32005289	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	18945611, 23486687		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligoastrocytoma	Anaplastic Oligoastrocytoma	BEFREE	18945611, 23071247		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	23071247, 23486687		★☆☆☆☆ Found in Text Mining only
Apraxia oculomotor Cogan type	Apraxia	Pubtator	15174536, 15790557, 21324166, 33101765, 36940705	Associate	★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	BEFREE	17572444		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	15174536, 15790557, 33101765, 36940705	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	11022012, 11586300, 14736755, 16159533, 16700949, 16961074, 19073331, 19440741, 23524341, 25868131, 29127364		★☆☆☆☆ Found in Text Mining only
Ataxia with vitamin E deficiency	Friedreich Ataxia	BEFREE	17112370, 19440741		★☆☆☆☆ Found in Text Mining only
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	Ataxia-oculomotor apraxia	BEFREE	11022012, 11170899, 12196655, 14755728, 15044383, 15276230, 15380105, 15719174, 16961074, 17049295, 17112370, 17240329, 17242337, 17315206, 17485165, 17519253, 17572444, 17917453, 19103743, 19442253, 19643912, 20687492, 25976310, 28566184		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	Ataxia-oculomotor apraxia	GENOMICS_ENGLAND_DG	11176957, 14506070, 15852392, 24896178, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	Ataxia-oculomotor apraxia	CLINVAR_DG	11176957, 11586300, 12629250, 14506070, 15699391, 15790557, 17242337, 21465257, 28652255		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	Ataxia-oculomotor apraxia	UNIPROT_DG	11586299, 11586300, 12196655, 12629250, 14506070, 15699391, 15852392, 24362567		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	Ataxia-oculomotor apraxia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	17889645, 27470939, 30301590, 30986824		★☆☆☆☆ Found in Text Mining only
ATAXIA-OCULOMOTOR APRAXIA 3	Ataxia-Oculomotor Apraxia	BEFREE	17224243		★☆☆☆☆ Found in Text Mining only
Ataxia-oculomotor apraxia type 1	Ataxia-Oculomotor Apraxia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA-TELANGIECTASIA-LIKE DISORDER	Ataxia-Telangiectasia-Like Disorder	BEFREE	16961074		★☆☆☆☆ Found in Text Mining only
Ataxia-Telangiectasisa-Like Disorder 1	Ataxia-telangiectasia-like disorder	BEFREE	16961074		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28259988		★☆☆☆☆ Found in Text Mining only
Cardiofaciocutaneous syndrome	Cardiofaciocutaneous syndrome	Pubtator	19096106	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	14506070, 29356829, 32750061	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Early Onset	Cerebellar Ataxia	BEFREE	15596775, 16700949, 21412945		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	16700949, 30301590		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	14506070, 16700949	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	27769049		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	27769049		★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	14506070, 16700949	Associate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	BEFREE	11022012		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	BEFREE	15699391		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	14506070	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG	28652255		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	14534929		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	17112370, 19953284		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	14506070	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	14506070		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	BEFREE	12196655, 14506070, 15174536		★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	LHGDN	17049295		★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22817869, 22920396		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	21437871	Associate	★☆☆☆☆ Found in Text Mining only
Lymphedema, microcephaly and chorioretinopathy syndrome	Lymphedema, Microcephaly And Chorioretinopathy Syndrome	BEFREE	30301590		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31448237		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	27769049		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	19440741		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	27470939		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	15996403		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	21502511	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	23524341		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20371676		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	16777843, 17240329		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25976310		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25976310	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	17240329, 25976310, 29934293	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	17240329, 19643912, 21984210, 25976310, 29934293		★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	BEFREE	12196655, 14506070, 15164193, 15174536, 15699391, 16159533, 16700949, 16961074, 17917453, 21324166, 21412945, 21486904, 25274775, 29356829		★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	CLINVAR_DG	28652255		★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	BEFREE	14506070, 15699391, 16159533, 16700949, 21324166, 21412945, 25274775, 29356829		★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	30986824		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36940705	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	11586300		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	15596775, 18403580, 21412945		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	16700949	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	15596775, 18403580, 21412945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature aging syndrome	Premature aging	BEFREE	25274775		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	15596775, 18403580		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	17519253	Associate	★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	BEFREE	16700949		★☆☆☆☆ Found in Text Mining only
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE	Spastic Ataxia	BEFREE	19440741		★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia 14	Spinocerebellar Ataxia	BEFREE	19561170		★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia autosomal recessive 1	Spinocerebellar ataxia	Pubtator	14506070, 15790557, 17519253, 28652255	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Autosomal Recessive 8	Spinocerebellar ataxia	Pubtator	21324166	Associate	★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	Spinocerebellar Ataxia	BEFREE	11022012, 14736755, 15596775, 15876520, 15996403, 16131425, 16159533, 16777843, 16961074, 17049295, 17112370, 17519253, 17889645, 18403580, 19073331, 20798953, 21316334, 21324166, 21412945, 21465257, 21984210, 24362567, 26285866, 29127364, 29356829, 30301590, 30986824		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	14506070		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY	Spinocerebellar Ataxia, WITH AXONAL NEUROPATHY	BEFREE	27470939		★☆☆☆☆ Found in Text Mining only