APTX (aprataxin)

Gene

• Entrez ID: 54840
• Gene name: Aprataxin
• Gene symbol: APTX
• Synonyms: 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	21873635
GO:0000012	Process	Single strand break repair	IDA	17519253
GO:0000785	Component	Chromatin	IDA	15044383
GO:0000785	Component	Chromatin	IDA	20008512
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	21873635
GO:0003725	Function	Double-stranded RNA binding	IBA	21873635
GO:0003725	Function	Double-stranded RNA binding	IDA	16547001
GO:0005515	Function	Protein binding	IPI	14755728, 15044383, 15380105, 15555565, 16439205, 16713569, 16777843, 25416956
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA	15044383, 16777843
GO:0005730	Component	Nucleolus	IDA	15044383, 16777843
GO:0005737	Component	Cytoplasm	IEA
GO:0006266	Process	DNA ligation	IEA
GO:0006302	Process	Double-strand break repair	IBA	21873635
GO:0006974	Process	Cellular response to DNA damage stimulus	IMP	15044383
GO:0008967	Function	Phosphoglycolate phosphatase activity	IDA	17519253
GO:0016311	Process	Dephosphorylation	IEA
GO:0030983	Function	Mismatched DNA binding	IBA	21873635
GO:0031647	Process	Regulation of protein stability	IMP	16777843
GO:0033699	Function	DNA 5'-adenosine monophosphate hydrolase activity	IBA	21873635
GO:0033699	Function	DNA 5'-adenosine monophosphate hydrolase activity	IDA	16547001, 16964241, 17276982, 17519253
GO:0042542	Process	Response to hydrogen peroxide	IDA	15044383
GO:0046872	Function	Metal ion binding	IEA
GO:0047485	Function	Protein N-terminus binding	IPI	16777843
GO:0051219	Function	Phosphoprotein binding	IPI	20008512
GO:0090305	Process	Nucleic acid phosphodiester bond hydrolysis	IEA
GO:1990165	Function	Single-strand break-containing DNA binding	IBA	21873635

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

• Sequence:

  MSNVNLSVSDFWRVMMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQ
  LKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVKLQPGQVLHMVNELYPYIVEFEEEAKN
  PGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIKKESLGH
  WSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKH
  MHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEY
  FLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ

• Sequence length: 356

Pathways

KEGG:

Base excision repair

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	26580837
Ataxia-oculomotor apraxia	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, Ataxia-oculomotor apraxia type 1	rs587776593, rs121908131, rs587776594, rs121908132, rs121908133, rs1587330671, rs104894103, rs267606665, rs587784365, rs587784366, rs786203983, rs886037744, rs1555810613, rs786205207, rs201912053, rs1114167423, rs904293109, rs1563963464, rs1563945076, rs756746191	11586300, 14506070, 24362567, 15699391, 28652255, 11176957, 12629250, 17242337, 12196655, 15852392, 21465257, 24896178, 11586299, 15790557, 27604308
Hypercholesterolemia	Hypercholesterolemia	rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034, rs387906304, rs387906305, rs121908036, rs387906306, rs121908037, rs200238879, rs121908040, rs267607213, rs121908041, rs121908042, rs145787161, rs121908043, rs121908044, rs121908324, rs1557703339, rs121908325, rs1553170279, rs755104973, rs1461905374, rs781585299, rs751141, rs121918386, rs587776886, rs193922566, rs137943601, rs193922567, rs193922569, rs193922571, rs144467873, rs137853966, rs137853965, rs377271627, rs144172724, rs139043155, rs368657165, rs146200173, rs368562025, rs139624145, rs370777955, rs373646964, rs137929307, rs374045590, rs139617694, rs730880131, rs730880130, rs730882080, rs200727689, rs557344672, rs730882085, rs730882086, rs730882090, rs544453230, rs730882098, rs570942190, rs193922568, rs730882102, rs730882109, rs201102492, rs730882110, rs793888522, rs793888517, rs146651743, rs794728683, rs794728585, rs376459828, rs768563000, rs794728584, rs375009082, rs869025453, rs869025454, rs758194385, rs769446356, rs869320649, rs869320652, rs875989888, rs551747280, rs544203837, rs875989889, rs875989890, rs875989891, rs875989893, rs875989894, rs771019366, rs563390335, rs875989895, rs875989896, rs875989897, rs875989898, rs769383881, rs875989900, rs537484504, rs875989901, rs199774121, rs875989902, rs875989903, rs121908027, rs875989905, rs875989906, rs577934998, rs121908029, rs875989907, rs875989908, rs875989909, rs11547917, rs875989911, rs875989910, rs875989912, rs761954844, rs875989914, rs767767730, rs875989915, rs875989916, rs875989917, rs765696008, rs552422789, rs28942078, rs875989919, rs875989920, rs875989921, rs875989922, rs875989925, rs875989926, rs875989927, rs875989928, rs875989929, rs875989930, rs875989932, rs370245937, rs875989934, rs875989935, rs875989936, rs875989937, rs775092314, rs875989938, rs875989941, rs875989943, rs750518671, rs28942085, rs876657697, rs756039188, rs878854026, rs878854028, rs878854027, rs879254363, rs879254368, rs879254374, rs879254382, rs879254383, rs879254384, rs201016593, rs879254386, rs879254385, rs879254387, rs879254388, rs879254390, rs879254393, rs879254394, rs879254395, rs879254396, rs879254397, rs879254398, rs879254399, rs879254400, rs2228671, rs879254401, rs776421777, rs879254402, rs879254403, rs879254404, rs879254405, rs879254406, rs879254407, rs879254408, rs879254409, rs879254410, rs879254411, rs879254412, rs879254413, rs879254414, rs879254415, rs754676104, rs387906301, rs879254417, rs879254418, rs879254419, rs879254423, rs879254422, rs879254424, rs879254425, rs879254426, rs879254428, rs879254430, rs879254432, rs879254433, rs879254434, rs1555802710, rs879254435, rs879254436, rs879254437, rs879254438, rs879254439, rs758927662, rs879254440, rs879254442, rs879254443, rs879254445, rs879254447, rs879254446, rs879254448, rs879254452, rs199570811, rs879254453, rs879254455, rs777640882, rs749038326, rs372828849, rs745776977, rs879254456, rs879254457, rs139400379, rs372845091, rs879254458, rs879254459, rs879254460, rs879254461, rs764797225, rs879254464, rs879254463, rs879254465, rs112029328, rs879254466, rs879254467, rs879254470, rs879254471, rs879254472, rs879254475, rs879254476, rs879254477, rs879254478, rs879254479, rs879254480, rs879254481, rs774723292, rs879254482, rs879254485, rs879254483, rs879254484, rs879254487, rs879254488, rs879254489, rs879254490, rs879254491, rs879254492, rs879254493, rs879254494, rs879254496, rs879254497, rs879254499, rs875989899, rs879254500, rs879254501, rs879254502, rs879254503, rs879254505, rs879254504, rs879254506, rs879254507, rs879254509, rs879254510, rs879254512, rs879254514, rs879254515, rs879254516, rs755799528, rs879254517, rs879254518, rs748944640, rs879254519, rs879254520, rs879254521, rs879254522, rs879254523, rs879254524, rs879254525, rs879254526, rs879254528, rs879254530, rs879254531, rs879254532, rs879254533, rs879254534, rs879254535, rs879254536, rs766094434, rs879254537, rs879254538, rs763998635, rs879254540, rs879254542, rs879254543, rs879254545, rs879254546, rs879254547, rs879254548, rs752596535, rs879254549, rs879254550, rs879254551, rs879254552, rs879254554, rs879254555, rs879254557, rs879254556, rs879254558, rs879254560, rs879254559, rs769318035, rs879254561, rs879254562, rs879254563, rs879254565, rs879254564, rs879254566, rs879254567, rs879254568, rs879254569, rs879254570, rs879254572, rs879254571, rs879254573, rs879254574, rs879254575, rs879254577, rs879254579, rs879254580, rs879254581, rs879254582, rs879254584, rs748672083, rs879254588, rs879254591, rs879254592, rs879254593, rs879254594, rs879254595, rs879254596, rs879254597, rs879254598, rs879254599, rs879254600, rs771917370, rs879254602, rs879254605, rs879254606, rs764042910, rs879254607, rs879254608, rs879254610, rs879254609, rs879254611, rs879254612, rs879254613, rs879254614, rs879254615, rs879254616, rs879254358, rs1555803428, rs879254619, rs373822756, rs879254620, rs879254622, rs756613387, rs879254623, rs879254624, rs1555803424, rs879254627, rs879254625, rs879254626, rs879254628, rs879254629, rs879254630, rs1555803414, rs879254631, rs1555803423, rs1555803426, rs879254632, rs879254633, rs879254635, rs879254634, rs879254636, rs879254638, rs1555803427, rs879254639, rs879254640, rs879254641, rs879254642, rs746091400, rs879254644, rs121908035, rs879254645, rs879254646, rs879254647, rs879254651, rs879254652, rs1555803643, rs1555803644, rs879254653, rs879254655, rs879254656, rs879254658, rs879254659, rs879254660, rs879254662, rs879254663, rs879254664, rs879254666, rs759109699, rs879254667, rs879254668, rs879254669, rs879254670, rs879254671, rs879254672, rs879254673, rs879254674, rs879254675, rs879254677, rs879254678, rs879254681, rs879254682, rs879254683, rs773328511, rs879254684, rs879254685, rs879254686, rs879254688, rs879254689, rs879254691, rs879254692, rs730882089, rs879254693, rs140241383, rs375495026, rs879254697, rs879254696, rs879254699, rs879254700, rs879254701, rs879254702, rs879254703, rs879254704, rs879254705, rs879254706, rs879254708, rs879254710, rs879254712, rs767618089, rs879254713, rs879254714, rs879254716, rs879254717, rs757252110, rs879254718, rs879254719, rs879254720, rs879254721, rs879254723, rs879254725, rs879254727, rs879254728, rs13306512, rs879254729, rs879254734, rs112366278, rs879254735, rs879254736, rs746834464, rs879254737, rs879254738, rs879254739, rs879254740, rs879254743, rs879254744, rs879254745, rs879254746, rs879254747, rs879254748, rs879254749, rs767024374, rs879254751, rs879254752, rs879254753, rs879254754, rs879254755, rs879254757, rs755757866, rs879254758, rs777524402, rs730882096, rs879254760, rs879254761, rs879254762, rs879254763, rs879254764, rs748300548, rs879254765, rs879254767, rs879254768, rs879254769, rs13306515, rs879254770, rs879254771, rs879254773, rs879254774, rs755449669, rs879254775, rs879254777, rs879254778, rs879254781, rs879254780, rs879254782, rs879254783, rs879254784, rs879254786, rs879254788, rs879254789, rs746982741, rs879254791, rs768430352, rs113669610, rs879254792, rs879254794, rs879254796, rs879254797, rs879254799, rs1555804777, rs879254800, rs773064328, rs879254801, rs879254802, rs1555804793, rs879254804, rs879254805, rs879254807, rs879254806, rs879254811, rs879254812, rs879254814, rs879254813, rs879254815, rs879254816, rs879254817, rs879254820, rs879254819, rs879254821, rs879254823, rs879254824, rs879254826, rs879254827, rs879254828, rs879254829, rs879254830, rs879254832, rs879254833, rs879254835, rs879254837, rs879254838, rs879254839, rs879254840, rs879254841, rs879254842, rs879254844, rs879254846, rs773658037, rs869320651, rs774439908, rs879254848, rs879254849, rs879254850, rs879254851, rs879254854, rs879254855, rs879254856, rs745343524, rs879254857, rs879254858, rs779732323, rs879254859, rs879254862, rs879254863, rs879254864, rs879254865, rs879254866, rs879254867, rs879254868, rs879254869, rs879254872, rs879254873, rs879254874, rs775924858, rs879254875, rs531005522, rs879254879, rs879254880, rs879254881, rs879254882, rs879254883, rs879254884, rs879254885, rs879254886, rs879254887, rs879254888, rs879254892, rs879254893, rs201967266, rs879254896, rs879254898, rs879254899, rs879254901, rs879254902, rs879254904, rs879254907, rs879254906, rs879254913, rs879254915, rs879254916, rs879254918, rs879254919, rs751603969, rs879254921, rs879254922, rs879254923, rs755667663, rs879254924, rs730882103, rs879254927, rs879254929, rs879254930, rs879254931, rs879254932, rs879254933, rs879254935, rs879254939, rs879254941, rs755389753, rs879254945, rs879254947, rs879254948, rs879254949, rs879254950, rs879254951, rs746939188, rs879254952, rs879254955, rs879254956, rs879254957, rs879254958, rs879254959, rs769370816, rs879254962, rs879254963, rs879254964, rs879254965, rs759876319, rs879254966, rs28942081, rs879254967, rs879254970, rs879254969, rs879254971, rs28941776, rs879254973, rs879254972, rs879254975, rs879254976, rs879254977, rs879254978, rs879254979, rs879254980, rs879254981, rs879254982, rs879254985, rs879254984, rs879254986, rs879254988, rs879254989, rs746959386, rs879254990, rs879254991, rs879254994, rs879254996, rs879254998, rs879254999, rs879255000, rs138947766, rs879255001, rs879255003, rs879255004, rs879255005, rs879255006, rs879255007, rs879255009, rs879255008, rs879255011, rs879255012, rs879255013, rs879255014, rs879255015, rs879255016, rs875989931, rs879255019, rs879255020, rs879255021, rs879255022, rs879255026, rs753707206, rs879255027, rs879255028, rs879255029, rs879255031, rs879255032, rs879255033, rs879255034, rs879255035, rs879255038, rs879255037, rs879255039, rs879255041, rs879255044, rs879255046, rs879255049, rs879255050, rs879255051, rs879255052, rs747134711, rs879255053, rs879255054, rs879255055, rs875989933, rs879255057, rs879255058, rs879255059, rs879255060, rs879255061, rs879255063, rs879255065, rs879255066, rs879255069, rs879255068, rs879255070, rs754536745, rs879255073, rs879255076, rs879255077, rs879255078, rs879255079, rs879255082, rs1555807275, rs879255088, rs879255089, rs879255090, rs879255092, rs773693079, rs879255093, rs879255096, rs879255097, rs879255098, rs1555807306, rs879255101, rs879255102, rs879255104, rs752935814, rs879255106, rs150021927, rs879255107, rs879255109, rs879255108, rs879255110, rs879255112, rs770744861, rs745753810, rs879255113, rs879255114, rs879255115, rs879255116, rs879255117, rs760436036, rs879255118, rs201637900, rs121908031, rs879255120, rs879255121, rs2569548, rs879255122, rs879255123, rs879255124, rs879255126, rs879255125, rs879255127, rs751228587, rs879255128, rs879255130, rs369943481, rs879255131, rs879255132, rs879255133, rs879255134, rs112954220, rs776217028, rs879255135, rs879255136, rs879255138, rs879255139, rs879255140, rs879255141, rs879255142, rs879255144, rs879255145, rs879255146, rs879255147, rs879255153, rs879255155, rs879255156, rs879255157, rs879255158, rs879255159, rs879255160, rs879255161, rs879255163, rs879255164, rs370018159, rs879255166, rs879255167, rs879255168, rs879255169, rs879255172, rs879255174, rs763625913, rs879255175, rs879255176, rs879255177, rs879255178, rs879255181, rs879255185, rs879255186, rs879255188, rs879255187, rs767790696, rs879255193, rs879255194, rs879255196, rs879255197, rs879255198, rs879255200, rs879255202, rs879255204, rs773618064, rs879255207, rs879255209, rs879255210, rs879255212, rs879255213, rs879255215, rs879255217, rs747344293, rs879255218, rs879255219, rs879255222, rs377437226, rs879255224, rs879255227, rs879255229, rs1555803632, rs886039829, rs886039830, rs886039831, rs1057515537, rs774615547, rs1057516129, rs1057516132, rs1057516133, rs1057516135, rs777326720, rs751122998, rs1057516130, rs774069731, rs879254847, rs1057516134, rs867272973, rs1057516127, rs763147599, rs1057519647, rs1057519648, rs1057519649, rs1057519650, rs751317621, rs774016801, rs1057519652, rs1057519653, rs1057519654, rs1555803257, rs1057519655, rs879254601, rs1057519657, rs1057519662, rs879254618, rs1057519659, rs1057519660, rs1057519661, rs1057519663, rs1057519664, rs1057519665, rs1057519666, rs373869746, rs879254803, rs1057519668, rs1057519669, rs1057519670, rs1057519671, rs1057519672, rs1057519673, rs1057519674, rs879254993, rs1057519676, rs1057519679, rs1057519682, rs1057519683, rs1057519685, rs1057519687, rs1057519690, rs1060499931, rs1060499919, rs1064792905, rs1060499921, rs1060499922, rs1555805127, rs1060499923, rs1060499924, rs1060499926, rs1060499927, rs1555808044, rs1555808111, rs1060499930, rs770696696, rs1060500988, rs1060500987, rs879254637, rs1064794259, rs1555800611, rs1131692189, rs1555802312, rs1131692191, rs1131692192, rs1555803259, rs1131692193, rs1131692194, rs121908039, rs1131692195, rs1131692197, rs1131692198, rs148698650, rs1131692201, rs1131692202, rs879254715, rs370471092, rs1131692203, rs1131692204, rs1131692205, rs1131692206, rs1131692207, rs1131692208, rs1131692209, rs1131692210, rs1131692211, rs1131692214, rs1131692215, rs1131692217, rs1555806546, rs1131692219, rs879255095, rs1131692220, rs1131692221, rs200793488, rs1131692223, rs1131692224, rs1131692225, rs1131692226, rs1135402767, rs1555805507, rs1553137543, rs1382988295, rs1555802270, rs934496989, rs1555806455, rs1555807335, rs1555803481, rs1555804717, rs1372204035, rs1553135930, rs1057519691, rs1254346075, rs1553137693, rs1553137699, rs886046435, rs1553382295, rs1553382319, rs1553382325, rs1442815965, rs747606537, rs5742904, rs1553385404, rs1553385715, rs1555800620, rs1555800631, rs1555800632, rs1555800648, rs1555800724, rs1555802242, rs1555802245, rs1555802258, rs1555802287, rs200660051, rs1398808477, rs1555802822, rs752191968, rs1555803191, rs1555803213, rs879254529, rs754933794, rs1555803327, rs1555803337, rs1555803354, rs1013147010, rs1555803383, rs1555803391, rs753319170, rs1555803409, rs1555803432, rs1555803449, rs1555803641, rs1555803701, rs1555803837, rs1555803841, rs1555803879, rs1555803891, rs1555804443, rs1555804700, rs730882099, rs1225797407, rs879254871, rs1555805337, rs1555805348, rs1555805360, rs1555805380, rs1555805490, rs1555805530, rs1555805531, rs1555805985, rs1555806110, rs1555806448, rs1555806467, rs1555806582, rs778408161, rs1555807261, rs1555807390, rs1555807388, rs1555807421, rs1555807465, rs1555807475, rs1555808008, rs1555808107, rs1555808114, rs1555808118, rs1555808120, rs1555808139, rs875989942, rs1555809471, rs1555809490, rs1555809520, rs1555800701, rs762417023, rs1555802259, rs1555802291, rs1555803186, rs1555803254, rs1555803280, rs879254541, rs1555803455, rs1555803439, rs1555803471, rs1555803912, rs1555804467, rs1555804545, rs1555805947, rs879254992, rs1555807356, rs1555808143, rs1555805930, rs1201229554, rs1555806529, rs779921498, rs1555807206, rs753151497, rs1208216597, rs1555803908, rs1323416354, rs1555805409, rs1555805413, rs774467219, rs1555806088, rs1568600415, rs777903106, rs1568606711, rs1568610747, rs1568600459, rs1568592055, rs1568582652, rs1568591929, rs1568594903, rs1568600328, rs1600743301, rs750383461, rs1600683731, rs1600704961, rs1600715039, rs1600720921, rs1555804729, rs1600727337, rs1600727715, rs1600732894, rs1600726930, rs1600742966, rs1600762098, rs1600765031, rs1600715089, rs879255149, rs1600715567, rs1600732566, rs1257344396, rs1572802096, rs763778803, rs2044384127, rs2077272442, rs2077276411, rs2077276612, rs2077282480, rs2077297994, rs879254707, rs2077361078, rs2077408020, rs2077409930, rs2077412367, rs2077417709, rs2077419273, rs2077459772, rs2077475503, rs2077534881, rs762148512, rs140807148, rs2077460968, rs2077315885, rs2077271255
Nystagmus	Nystagmus, End-Position	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spinocerebellar ataxia	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	14506070

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar atrophy	Cerebellar atrophy
Choreoathetosis	Choreoathetosis
Dementia	Dementia
Distal amyotrophy	Distal amyotrophy	rs1457770815
Dysarthria	Dysarthria		28652255
Dyskinetic syndrome	Dyskinetic syndrome
Hypoalbuminemia	Hypoalbuminemia
Impaired cognition	Impaired cognition
Nervous system diseases	Peripheral Nervous System Diseases
Oculomotor apraxia	Oculomotor apraxia		28652255
Oculovestibuloauditory syndrome	Oculovestibuloauditory syndrome
Progressive external ophthalmoplegia	Chronic progressive external ophthalmoplegia	rs515726194, rs387906891, rs387906892, rs1556423295, rs2072267