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	54840
Gene name	Aprataxin
Gene symbol	APTX
Synonyms (NCBI Gene)	AOAAOA1AXA1EAOHEOAHAFHA-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

Show/Hide all (22)

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

182

Show/Hide all (182)

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

Show/Hide all (36)

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

MIM	HGNC	e!Ensembl
606350	15984	ENSG00000137074

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

Interactions

View interactions

	KEGG
	Base excision repair

166

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
APTX-related disorder	Pathogenic	rs104894103	RCV004757946
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 View all (6 more)	RCV001647163 RCV001784753 RCV001807978 RCV001814648 RCV002284985 RCV000004675 RCV000004676 RCV000004677 RCV000004678 RCV000004679 RCV000004680 RCV000004681 RCV000004683 RCV003227536 RCV003990512 RCV000616687 RCV000490800 RCV000501832 RCV000785175 RCV000786024 RCV001195418 RCV001814301
Epilepsy	Pathogenic	rs778258042	RCV003484415
Hereditary ataxia	Pathogenic	rs104894103	RCV005624671

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs374663770	RCV005916408
Cervical cancer	Likely benign	rs374663770	RCV005916409
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs1981011	RCV005900567
Coenzyme Q10 deficiency, Oculomotor Apraxia Type	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs141493373, rs200922655, rs34600530, rs571475924, rs770908697, rs113638548, rs751303502, rs377365362, rs138490250, rs377129152, rs1981011, rs111430445, rs886063857, rs150506419	RCV000407383 RCV000319013 RCV000310585 RCV000302324 RCV000325267 RCV000348600 RCV000407387 RCV000314782 RCV000373051 RCV000293319 RCV000352866 RCV000376611 RCV000374143 RCV000391780
Coenzyme Q10 deficiency, primary, 1	Uncertain significance	rs1563993041	RCV000721992
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs146487634	RCV005912272
Familial cancer of breast	Likely benign; Benign	rs374663770, rs884546, rs779869639, rs775254022, rs1981011	RCV005916407 RCV005923781 RCV005869232 RCV005935038 RCV005900562
Hepatocellular carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs10123944, rs1981011, rs751250105	RCV005890573 RCV005900564 RCV005903143
Lymphoma	Benign	rs1981011	RCV005900565
Malignant lymphoma, large B-cell, diffuse	Benign	rs884546	RCV005923782
Malignant tumor of urinary bladder	Benign	rs1981011	RCV005900563
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs571475924	RCV005895531
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs10123944, rs200922655, rs34600530, rs144076460, rs772290850, rs770908697, rs141195622, rs886063858, rs377365362, rs113556331, rs377129152, rs113391831, rs117041645, rs545625482, rs142133683	RCV001844043 RCV001844073 RCV001844082 RCV001844083 RCV001844143 RCV001844145 RCV001844148 RCV001844151 RCV001844144 RCV001844146 RCV001844150 RCV001844152 RCV001844153 RCV001844147 RCV001844149
Thymoma	Benign; Conflicting classifications of pathogenicity	rs1981011, rs146487634	RCV005900566 RCV005912273
Uterine carcinosarcoma	Benign; Likely benign	rs884546, rs10123944	RCV005923783 RCV005890574
Uveal melanoma	Likely benign	rs775254022	RCV005935039

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Achalasia Addisonianism Alacrimia syndrome	Associate	16467144
Amyotrophic Lateral Sclerosis	Associate	32005289
Apraxia oculomotor Cogan type	Associate	15174536, 15790557, 21324166, 33101765, 36940705
Ataxia	Associate	15174536, 15790557, 33101765, 36940705
Cardiofaciocutaneous syndrome	Associate	19096106
Cerebellar Ataxia	Associate	14506070, 29356829, 32750061
Cerebellar Diseases	Associate	14506070, 16700949
Chorea	Associate	14506070, 16700949
Cognition Disorders	Associate	14506070
Early onset ataxia with oculomotor apraxia and hypoalbuminemia	Associate	15367657, 15719174, 15790557, 16547001, 16700949, 17240329, 17276982, 17519253, 21324166, 21502511, 23183622, 23941260, 24362567, 25976310, 26285866 View all (8 more)
Heredodegenerative Disorders Nervous System	Associate	15367657, 24362567
Huntington Disease	Associate	14506070
Hypoalbuminemia	Associate	17519253, 36940705
Immunologic Deficiency Syndromes	Inhibit	30986824
Lupus Erythematosus Systemic	Associate	21437871
Mitochondrial Diseases	Associate	21502511
Neoplastic Syndromes Hereditary	Associate	36940705
Neuroblastoma	Associate	25976310
Neurodegenerative Diseases	Associate	17240329, 25976310, 29934293
Neurologic Manifestations	Associate	17276982
Osteosarcoma	Associate	36940705
Peripheral Nervous System Diseases	Associate	16700949
Seizures	Associate	17519253
Sensorimotor neuropathy with ataxia autosomal dominant	Associate	14506070
Spinocerebellar ataxia autosomal recessive 1	Associate	14506070, 15790557, 17519253, 28652255
Spinocerebellar Ataxia Autosomal Recessive 8	Associate	21324166
Spinocerebellar Degenerations	Associate	28652255, 37510308

APTX (aprataxin)