ATP13A2 (ATPase cation transporting 13A2)

Gene

• Entrez ID: 23400
• Gene name: ATPase cation transporting 13A2
• Gene symbol: ATP13A2
• Synonyms: CLN12, HSA9947, KRPPD, PARK9, SPG78
• Chromosome: 1
• Chromosome location: 1p36.13
• Summary: This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript v

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs55943100	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs112549590	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs115985012	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, intron variant, coding sequence variant
rs121918227	C>G	Pathogenic	Missense variant, coding sequence variant
rs138546275	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144557304	C>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144701072	C>T	Pathogenic	Coding sequence variant, missense variant
rs144708504	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs145515028	G>A	Conflicting-interpretations-of-pathogenicity, not-provided	Coding sequence variant, missense variant
rs149372969	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150519745	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs199624796	G>A	Pathogenic	Missense variant, coding sequence variant
rs200587951	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs369863178	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs372993383	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs373607247	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs377253172	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, intron variant
rs587776890	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777053	A>C	Pathogenic	Coding sequence variant, missense variant
rs749798211	CTGGGGAAGCAGG>-	Uncertain-significance, pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs758014228	A>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Splice donor variant, intron variant
rs759020707	T>A,G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs762033589	->CT	Pathogenic	Frameshift variant, coding sequence variant
rs765632065	G>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs773246271	G>A	Pathogenic	Stop gained, coding sequence variant
rs786205056	C>T	Pathogenic	Intron variant
rs866035312	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1057519289	G>A	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1057519290	AGA>-	Pathogenic	Inframe deletion, coding sequence variant
rs1057519291	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1057519292	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057519293	G>A	Pathogenic	Stop gained, coding sequence variant
rs1303653650	G>A	Pathogenic	Coding sequence variant, stop gained
rs1570759415	GA>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT041277	hsa-miR-193b-3p	CLASH	23622248
MIRT039758	hsa-miR-615-3p	CLASH	23622248
MIRT806646	hsa-miR-2681	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000421	Component	Autophagosome membrane	IEA
GO:0005515	Function	Protein binding	IPI	22645275, 27278822
GO:0005524	Function	ATP binding	IEA
GO:0005764	Component	Lysosome	IDA	16964263, 21542062, 24603074, 25392495
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	23499937
GO:0005765	Component	Lysosomal membrane	TAS	25548531
GO:0005770	Component	Late endosome	IDA	25392495
GO:0005771	Component	Multivesicular body	IDA	24603074, 25392495
GO:0005771	Component	Multivesicular body	TAS	25548531
GO:0005776	Component	Autophagosome	IDA	24603074
GO:0006874	Process	Cellular calcium ion homeostasis	IBA	21873635
GO:0006874	Process	Cellular calcium ion homeostasis	IDA	22186024
GO:0006879	Process	Cellular iron ion homeostasis	IMP	26818499
GO:0006882	Process	Cellular zinc ion homeostasis	IMP	24603074
GO:0006914	Process	Autophagy	IMP	27278822
GO:0007041	Process	Lysosomal transport	IMP	31996848
GO:0008270	Function	Zinc ion binding	ISS	22361905, 23202360
GO:0010628	Process	Positive regulation of gene expression	IMP	27278822
GO:0010821	Process	Regulation of mitochondrion organization	IDA	22186024
GO:0010821	Process	Regulation of mitochondrion organization	IMP	22198378
GO:0012506	Component	Vesicle membrane	IEA
GO:0016021	Component	Integral component of membrane	NAS	16964263
GO:0016241	Process	Regulation of macroautophagy	IMP	22198378
GO:0016241	Process	Regulation of macroautophagy	TAS	22885599
GO:0016243	Process	Regulation of autophagosome size	IDA	22186024
GO:0016887	Function	ATPase activity	IDA	31996848
GO:0016887	Function	ATPase activity	NAS	24252804
GO:0019829	Function	ATPase-coupled cation transmembrane transporter activity	TAS
GO:0030003	Process	Cellular cation homeostasis	TAS	25548531
GO:0030133	Component	Transport vesicle	IDA	22186024
GO:0030145	Function	Manganese ion binding	ISS	22361905, 23202360
GO:0031982	Component	Vesicle	IDA	24603074
GO:0032585	Component	Multivesicular body membrane	NAS	24603074
GO:0033157	Process	Regulation of intracellular protein transport	NAS	24334770
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0034599	Process	Cellular response to oxidative stress	IMP	26134396
GO:0034599	Process	Cellular response to oxidative stress	TAS	26392192
GO:0043005	Component	Neuron projection	IDA	22186024
GO:0043025	Component	Neuronal cell body	IDA	22186024
GO:0043202	Component	Lysosomal lumen	TAS
GO:0046777	Process	Protein autophosphorylation	TAS	26392192
GO:0050714	Process	Positive regulation of protein secretion	IMP	25392495
GO:0052548	Process	Regulation of endopeptidase activity	IMP	23499937
GO:0055069	Process	Zinc ion homeostasis	IMP	24334770
GO:0055088	Process	Lipid homeostasis	IMP	31132336
GO:0061462	Process	Protein localization to lysosome	IMP	30538141
GO:0061909	Process	Autophagosome-lysosome fusion	IMP	30538141
GO:0070300	Function	Phosphatidic acid binding	IDA	26134396
GO:0071287	Process	Cellular response to manganese ion	IMP	22285144
GO:0071287	Process	Cellular response to manganese ion	TAS	23628791, 26392192
GO:0071294	Process	Cellular response to zinc ion	TAS	26392192
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IDA	26134396
GO:0097734	Process	Extracellular exosome biogenesis	IMP	25392495
GO:1900180	Process	Regulation of protein localization to nucleus	IMP	27278822
GO:1901215	Process	Negative regulation of neuron death	ISS	23499937
GO:1901215	Process	Negative regulation of neuron death	TAS	22885599
GO:1902047	Process	Polyamine transmembrane transport	IDA	23205587
GO:1903135	Function	Cupric ion binding	ISS	23202360
GO:1903146	Process	Regulation of autophagy of mitochondrion	TAS	25548531
GO:1903543	Process	Positive regulation of exosomal secretion	IDA	24603074
GO:1903543	Process	Positive regulation of exosomal secretion	IMP	25392495
GO:1903710	Process	Spermine transmembrane transport	IMP	31996848
GO:1904714	Process	Regulation of chaperone-mediated autophagy	TAS	22885599
GO:1905037	Process	Autophagosome organization	IDA	22186024
GO:1905103	Component	Integral component of lysosomal membrane	IDA	26134396
GO:1905123	Process	Regulation of glucosylceramidase activity	IEA
GO:1905165	Process	Regulation of lysosomal protein catabolic process	IGI	24334770
GO:1905165	Process	Regulation of lysosomal protein catabolic process	IMP	23499937
GO:1905166	Process	Negative regulation of lysosomal protein catabolic process	TAS	22885599
GO:1990938	Process	Peptidyl-aspartic acid autophosphorylation	IMP	26134396
GO:2000152	Process	Regulation of ubiquitin-specific protease activity	IMP	27278822

Other IDs

• MIM: 610513
• HGNC: 30213
• e!Ensembl: ENSG00000159363

Protein

• UniProt ID: Q9NQ11
• Protein name: Polyamine-transporting ATPase 13A2 (EC 7.6.2.-)
• Protein function: ATPase which acts as a lysosomal polyamine exporter with high affinity for spermine (PubMed:31996848). Also stimulates cellular uptake of polyamines and protects against polyamine toxicity (PubMed:31996848). Plays a role in intracellular cation
• PDB: 7FJM, 7FJP, 7FJQ, 7M5V, 7M5X, 7M5Y, 7N70, 7N72, 7N73, 7N74, 7N75, 7N76, 7N77, 7N78, 7VPI, 7VPJ, 7VPK, 7VPL, 8IEK, 8IEL, 8IEM, 8IEN, 8IEO, 8IER, 8IES
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12409	P5-ATPase	31 → 176	P5-type ATPase cation transporter	Family
  PF00122	E1-E2_ATPase	290 → 491		Family
  PF00702	Hydrolase	507 → 788		Domain

• Sequence:

  MSADSSPLVGSTPTGYGTLTIGTSIDPLSSSVSSVRLSGYCGSPWRVIGYHVVVWMMAGI
  PLLLFRWKPLWGVRLRLRPCNLAHAETLVIEIRDKEDSSWQLFTVQVQTEAIGEGSLEPS
  PQSQAEDGRSQAAVGAVPEGAWKDTAQLHKSEEAVSVGQKRVLRYYLFQGQRYIWIETQQ
  AFYQVSLLDHGRSCDDVHRSRHGLSLQDQMVRKAIYGPNVISIPVKSYPQLLVDEALNPY
  YGFQAFSIALWLADHYYWYALCIFLISSISICLSLYKTRKQSQTLRDMVKLSMRVCVCRP
  GGEEEWVDSSELVPGDCLVLPQEGGLMPCDAALVAGECMVNESSLTGESIPVLKTALPEG
  LGPYCAETHRRHTLFCGTLILQARAYVGPHVLAVVTRTGFCTAKGGLVSSILHPRPINFK
  FYKHSMKFVAALSVLALLGTIYSIFILYRNRVPLNEIVIRALDLVTVVVPPALPAAMTVC
  TLYAQSRLRRQGIFCIHPLRINLGGKLQLVCFDKTGTLTEDGLDVMGVVPLKGQAFLPLV
  PEPRRLPVGPLLRALATCHALSRLQDTPVGDPMDLKMVESTGWVLEEEPAADSAFGTQVL
  AVMRPPLWEPQLQAMEEPPVPVSVLHRFPFSSALQRMSVVVAWPGATQPEAYVKGSPELV
  AGLCNPETVPTDFAQMLQSYTAAGYRVVALASKPLPTVPSLEAAQQLTRDTVEGDLSLLG
  LLVMRNLLKPQTTPVIQALRRTRIRAVMVTGDNLQTAVTVARGCGMVAPQEHLIIVHATH
  PERGQPASLEFLPMESPTAVNGVKDPDQAASYTVEPDPRSRHLALSGPTFGIIVKHFPKL
  LPKVLVQGTVFARMAPEQKTELVCELQKLQYCVGMCGDGANDCGALKAADVGISLSQAEA
  SVVSPFTSSMASIECVPMVIREGRCSLDTSFSVFKYMALYSLTQFISVLILYTINTNLGD
  LQFLAIDLVITTTVAVLMSRTGPALVLGRVRPPGALLSVPVLSSLLLQMVLVTGVQLGGY
  FLTLAQPWFVPLNRTVAAPDNLPNYENTVVFSLSSFQYLILAAAVSKGAPFRRPLYTNVP
  FLVALALLSSVLVGLVLVPGLLQGPLALRNITDTGFKLLLLGLVTLNFVGAFMLESVLDQ
  CLPACLRRLRPKRASKKRFKQLERELAEQPWPPLPAGPLR

• Sequence length: 1180

Pathways

Reactome:

Ion transport by P-type ATPases

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Akinesia	Akinesia	rs606231129, rs606231131, rs606231132, rs118203995, rs606231133, rs104894299, rs104894300, rs786200904, rs786200905, rs104894294, rs121909254, rs121909255, rs121909256, rs150376433, rs863223335, rs751889864, rs559933584, rs761899995, rs797045528, rs551423795, rs886037842, rs560525099, rs775583136, rs1349476281, rs794727884, rs1479498379, rs1555142142, rs1558010146, rs1558003446, rs1554757237, rs770987150, rs768892432, rs1558008455, rs1560224831, rs1558005340, rs747595523, rs1567568217, rs774070092, rs776532930, rs765096923, rs1560200925, rs201947904, rs1595903667, rs376573993, rs778172294, rs759488854, rs761584017, rs769850502
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Kufor-rakeb syndrome	KUFOR-RAKEB SYNDROME	rs786205056, rs2100817106, rs121918227, rs762033589, rs587776890, rs587777053, rs144701072, rs1057519289, rs1057519292, rs1057519293, rs765632065	26633545, 21060012, 22768177, 16964263, 20853184, 22847264, 22296644, 22022275, 2276817, 21665991, 27165006, 20683840, 28137957, 21696388, 22388936, 17485642, 21542062, 29859891, 22166458, 18413573
Neuronal ceroid lipofuscinosis	Late-Infantile Neuronal Ceroid Lipfuscinosis, Adult Neuronal Ceroid Lipofuscinosis, Neuronal Ceroid-Lipofuscinoses, Infantile neuronal ceroid lipofuscinosis, Juvenile Neuronal Ceroid Lipofuscinosis, Ceroid Lipofuscinosis, Neuronal, Parry Type, ATP13A2-related juvenile neuronal ceroid lipofuscinosis	rs118203975, rs118203976, rs118203977, rs267607235, rs140948465, rs1740291234, rs386833969, rs104894385, rs104894386, rs121908292, rs267606738, rs1555274312, rs119455953, rs119455954, rs119455955, rs56144125, rs119455956, rs28940573, rs119455957, rs119455958, rs104894064, rs28940569, rs104894060, rs137852883, rs1555468634, rs121434286, rs267606737, rs104894483, rs397515352, rs774543080, rs121908080, rs786205067, rs137852695, rs137852696, rs137852697, rs137852698, rs137852699, rs137852700, rs137852701, rs137852702, rs63749877, rs121912789, rs121912790, rs786205105, rs154774634, rs587776892, rs387907246, rs386833624, rs386833626, rs386833625, rs386833627, rs386833628, rs386833629, rs386833630, rs386833632, rs386833633, rs386833634, rs386833635, rs386833636, rs386833637, rs386833638, rs386833641, rs386833642, rs386833643, rs386833644, rs386833645, rs386833646, rs386833647, rs386833648, rs386833649, rs386833650, rs386833651, rs386833652, rs386833653, rs148412181, rs386833654, rs386833655, rs386833656, rs386833657, rs386833658, rs386833659, rs386833660, rs386833661, rs386833663, rs386833664, rs386833665, rs386833666, rs386833667, rs386833668, rs386833669, rs386833671, rs386833694, rs386833695, rs386833696, rs386833697, rs386833698, rs386833699, rs386833700, rs386833701, rs386833702, rs386833703, rs386833704, rs386833705, rs386833706, rs386833707, rs386833708, rs386833709, rs386833710, rs386833712, rs386833713, rs386833714, rs386833715, rs386833717, rs386833720, rs386833721, rs386833722, rs386833724, rs386833725, rs386833726, rs386833728, rs386833729, rs386833730, rs386833731, rs386833732, rs386833735, rs386833736, rs386833737, rs386833739, rs386833740, rs386833741, rs386833742, rs386833743, rs386833744, rs386833963, rs386833964, rs386833965, rs386833966, rs386833967, rs386833970, rs386833971, rs386833972, rs386833973, rs386833974, rs386833975, rs386833978, rs386833979, rs386833980, rs386833981, rs386833982, rs386833983, rs386834123, rs386834124, rs386834125, rs386834126, rs386834128, rs386834130, rs386834132, rs386834133, rs386834135, rs34238807, rs386834138, rs386834139, rs397514731, rs397514732, rs753084727, rs587778809, rs154774640, rs154774639, rs121908197, rs121908198, rs121908199, rs121908200, rs121908201, rs121908203, rs121908202, rs121908195, rs121908204, rs121908205, rs121908209, rs121908207, rs104895127, rs63750411, rs587779397, rs587780315, rs724159970, rs727502800, rs727502801, rs724159971, rs746645358, rs786204553, rs786204753, rs778232650, rs786204644, rs794727955, rs794729218, rs796052925, rs796052923, rs796052927, rs558274487, rs796052752, rs144495588, rs1554901472, rs750428882, rs796053439, rs763162812, rs756564767, rs202189057, rs759080581, rs746085696, rs546989392, rs143781303, rs796052356, rs796052351, rs796052335, rs797045136, rs797045137, rs765097897, rs864309505, rs869025274, rs869312751, rs1085307087, rs878853322, rs878853325, rs878853929, rs878855053, rs878855331, rs553522118, rs748710466, rs886041568, rs886041487, rs886041546, rs1057516575, rs1057516889, rs1057517401, rs1057516447, rs1057517049, rs1057517192, rs1057517368, rs1057517112, rs747204624, rs1057516867, rs1057516582, rs756267448, rs1057516579, rs1057516511, rs1057516264, rs1057516319, rs113019349, rs1057517313, rs1057516945, rs752164603, rs1057516366, rs1057516667, rs1057516814, rs780198002, rs1057517134, rs1057516390, rs764495616, rs750935331, rs1057516677, rs1057516267, rs771788391, rs1057517350, rs1057516335, rs1057517287, rs1057517215, rs1057516343, rs777625354, rs764051026, rs559155109, rs1064796787, rs139842473, rs1064794233, rs181995380, rs1064795153, rs752612332, rs1131691676, rs1131691539, rs1555438255, rs1555058286, rs1555274005, rs1555468632, rs200348035, rs1265044710, rs1439582451, rs751696703, rs761621368, rs143730802, rs1554901580, rs1554902052, rs1553950197, rs200319160, rs143657539, rs1554901523, rs1555274338, rs1555273604, rs1555273881, rs1216139602, rs762226836, rs1553167863, rs1553166135, rs1553166147, rs1553167430, rs1349528345, rs1553166499, rs1553166337, rs1553167415, rs1553167474, rs1553167479, rs1554451504, rs746397087, rs1554449028, rs759830733, rs1554449124, rs554042394, rs1554451484, rs1554448874, rs1554448924, rs1554449047, rs1554449136, rs1554901463, rs1184563885, rs1554902043, rs763961289, rs1407106889, rs1554901576, rs1554901731, rs1424116749, rs1554901784, rs1554902216, rs779615685, rs1554902085, rs764790770, rs1555274343, rs1555274369, rs1555273567, rs1555274365, rs1555273609, rs1555274344, rs1555274373, rs1555274387, rs1451777867, rs762902907, rs756522171, rs1555438212, rs1555438443, rs1555468374, rs1555469452, rs1555467473, rs1418997146, rs1555273882, rs1478660606, rs1555273992, rs1555274014, rs1555274337, rs142456044, rs1555469159, rs758921701, rs1555469089, rs1555469477, rs1554901898, rs1554902217, rs1564855860, rs1564854729, rs1460276679, rs1560776422, rs556661896, rs868732642, rs1564855725, rs1566219136, rs1381427322, rs1557714302, rs1593914689, rs1302326945, rs1570470281, rs1570476221, rs775699005, rs1578912362, rs750162094, rs759664259, rs1589947644, rs1012449574, rs1570467252, rs778875017, rs1578794927, rs1578912759, rs1314967038, rs1465284719, rs1595816465, rs1595816474, rs1596563048, rs1565311875, rs2046113301, rs1578889355, rs776253867, rs1649597261, rs1649901192, rs749315686, rs1801297484, rs764256845, rs1242337070, rs2034349431, rs1380684360, rs1648444864, rs1739594685, rs1736369601, rs1739482158, rs1471253353, rs2046243804, rs1845791308, rs1397197980, rs2046158549	22847264, 22022275, 22022275, 22847264
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Parkinson disease	Parkinsonian Disorders, Parkinson Disease, Secondary Vascular, Autosomal Dominant Juvenile Parkinson Disease, PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE, Parkinson Disease, Secondary Parkinson Disease	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	23046578, 22285144, 23628791, 21060012, 28137957, 25149416
Spastic paraplegia	Spastic Paraplegia, Complicated hereditary spastic paraplegia, SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, Autosomal recessive spastic paraplegia type 78	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464	27217339, 27165006, 28137957, 27217339, 28137957, 29112700, 27165006, 29859891, 21696388, 16964263

Unknown
Disease name	Disease term	dbSNP ID	References
Anarthria speech disorder	Anarthria speech disorder
Atherosclerotic parkinsonism	Atherosclerotic Parkinsonism		22285144
Blepharospasm	Blepharospasm
Bowel incontinence	Fecal Incontinence
Cerebellar atrophy	Cerebellar atrophy
Cerebral cortical atrophy	Cerebral cortical atrophy
Dementia	Dementia
Disorder of eye	Disorder of eye
Dysarthria	Dysarthria
Dyskinetic syndrome	Dyskinetic syndrome
Dysmorphic features	Dysmorphic features		17485642, 21060012, 16964263, 25149416, 20853184, 22198378, 22388936, 21665991, 25197640, 20683840
Dysphagia	Deglutition Disorders
Hallucinations	Hallucinations
Horizontal nystagmus	Horizontal Nystagmus
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Impaired cognition	Impaired cognition
Mental depression	Depressive disorder	rs587778876, rs587778877
Neurogenic urinary bladder	Neurogenic Urinary Bladder
Parkinsonian disease	Autosomal Dominant Parkinsonism, Autosomal Recessive Parkinsonism, Familial Juvenile Parkinsonism, Parkinsonism, Juvenile		23046578
Psychosis	Psychotic episodes
Ramsay hunt paralysis syndrome	Ramsay Hunt Paralysis Syndrome		23046578
Spastic quadriplegia	Spastic Quadriplegia
Strabismus	Strabismus
Supranuclear gaze palsy	Vertical supranuclear gaze palsy
Upgaze palsy	Upgaze palsy