SLC6A3 (solute carrier family 6 member 3)

Gene

• Entrez ID: 6531
• Gene name: Solute carrier family 6 member 3
• Gene symbol: SLC6A3
• Synonyms (NCBI Gene): DAT, DAT1, PKDYS, PKDYS1
• Disease Acronyms (UniProt): PKDYS1
• Chromosome: 5
• Chromosome location: 5p15.33
• Summary: This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3` UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs71653633	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs186229286	G>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs267607068	A>T	Pathogenic	Missense variant, coding sequence variant
rs267607069	G>A	Pathogenic	Missense variant, coding sequence variant
rs431905504	C>T	Pathogenic	Splice donor variant
rs431905514	C>T	Likely-pathogenic	Splice donor variant
rs431905515	A>G	Pathogenic	Coding sequence variant, missense variant
rs431905516	G>A	Pathogenic	Coding sequence variant, missense variant
rs749320240	G>-,GG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064795122	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1579729357	G>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1366331	hsa-miR-1343	CLIP-seq
MIRT1366332	hsa-miR-19a	CLIP-seq
MIRT1366333	hsa-miR-19b	CLIP-seq
MIRT1366334	hsa-miR-2110	CLIP-seq
MIRT1366335	hsa-miR-3074-5p	CLIP-seq
MIRT1366336	hsa-miR-3160-3p	CLIP-seq
MIRT1366337	hsa-miR-4271	CLIP-seq
MIRT1366338	hsa-miR-4299	CLIP-seq
MIRT1366339	hsa-miR-4487	CLIP-seq
MIRT1366340	hsa-miR-4494	CLIP-seq
MIRT1366341	hsa-miR-4710	CLIP-seq
MIRT1366342	hsa-miR-4725-3p	CLIP-seq
MIRT1366343	hsa-miR-4792	CLIP-seq
MIRT1366344	hsa-miR-498	CLIP-seq
MIRT1366345	hsa-miR-505	CLIP-seq
MIRT1366346	hsa-miR-558	CLIP-seq
MIRT1366347	hsa-miR-592	CLIP-seq
MIRT1366348	hsa-miR-597	CLIP-seq
MIRT1366349	hsa-miR-671-5p	CLIP-seq
MIRT1366350	hsa-miR-892a	CLIP-seq
MIRT2108731	hsa-miR-1184	CLIP-seq
MIRT2108732	hsa-miR-1205	CLIP-seq
MIRT1366331	hsa-miR-1343	CLIP-seq
MIRT1366335	hsa-miR-3074-5p	CLIP-seq
MIRT2108733	hsa-miR-3157-3p	CLIP-seq
MIRT2108734	hsa-miR-3615	CLIP-seq
MIRT2108735	hsa-miR-4290	CLIP-seq
MIRT1366338	hsa-miR-4299	CLIP-seq
MIRT2108736	hsa-miR-4418	CLIP-seq
MIRT2108737	hsa-miR-4667-3p	CLIP-seq
MIRT1366341	hsa-miR-4710	CLIP-seq
MIRT2108738	hsa-miR-4768-5p	CLIP-seq
MIRT1366343	hsa-miR-4792	CLIP-seq
MIRT2108739	hsa-miR-509-3-5p	CLIP-seq
MIRT2108740	hsa-miR-509-5p	CLIP-seq
MIRT2108741	hsa-miR-874	CLIP-seq
MIRT2332372	hsa-miR-103a	CLIP-seq
MIRT2332373	hsa-miR-107	CLIP-seq
MIRT2108731	hsa-miR-1184	CLIP-seq
MIRT2332374	hsa-miR-27a	CLIP-seq
MIRT2332375	hsa-miR-27b	CLIP-seq
MIRT2108736	hsa-miR-4418	CLIP-seq
MIRT2108739	hsa-miR-509-3-5p	CLIP-seq
MIRT2108740	hsa-miR-509-5p	CLIP-seq
MIRT2332376	hsa-miR-513a-5p	CLIP-seq
MIRT2332377	hsa-miR-628-5p	CLIP-seq
MIRT2108741	hsa-miR-874	CLIP-seq
MIRT2459867	hsa-miR-3922-5p	CLIP-seq
MIRT2459868	hsa-miR-4514	CLIP-seq
MIRT2459869	hsa-miR-4645-5p	CLIP-seq
MIRT2459870	hsa-miR-4673	CLIP-seq
MIRT2459871	hsa-miR-4692	CLIP-seq
MIRT2459872	hsa-miR-4753-5p	CLIP-seq
MIRT2459873	hsa-miR-4755-3p	CLIP-seq
MIRT2459874	hsa-miR-574-5p	CLIP-seq
MIRT2459875	hsa-miR-759	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NR4A2	Unknown	19494806

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005326	Function	Neurotransmitter transmembrane transporter activity	ISS
GO:0005330	Function	Dopamine:sodium symporter activity	IBA	21873635
GO:0005330	Function	Dopamine:sodium symporter activity	IDA	15505207
GO:0005334	Function	Norepinephrine:sodium symporter activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	11343649, 12958153, 15505207, 17380124, 17519329, 20018661, 21957239, 22163275, 28734904
GO:0005737	Component	Cytoplasm	TAS	10823899
GO:0005886	Component	Plasma membrane	IDA	11343649, 12958153, 21957239
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0006836	Process	Neurotransmitter transport	ISS
GO:0007568	Process	Aging	IEA
GO:0007595	Process	Lactation	IEA
GO:0007608	Process	Sensory perception of smell	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008144	Function	Drug binding	IEA
GO:0008504	Function	Monoamine transmembrane transporter activity	IDA	16024787
GO:0008504	Function	Monoamine transmembrane transporter activity	ISS
GO:0008504	Function	Monoamine transmembrane transporter activity	TAS
GO:0009986	Component	Cell surface	IDA	21399631
GO:0010039	Process	Response to iron ion	IEA
GO:0015844	Process	Monoamine transport	IDA	16024787
GO:0015872	Process	Dopamine transport	IDA	15505207
GO:0015874	Process	Norepinephrine transport	IBA	21873635
GO:0016021	Component	Integral component of membrane	TAS	8628395
GO:0016600	Component	Flotillin complex	IDA	21399631
GO:0021984	Process	Adenohypophysis development	IEA
GO:0030424	Component	Axon	IDA	12958153
GO:0032809	Component	Neuronal cell body membrane	IBA	21873635
GO:0035094	Process	Response to nicotine	IEA
GO:0035240	Function	Dopamine binding	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA	21873635
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042053	Process	Regulation of dopamine metabolic process	IEA
GO:0042136	Process	Neurotransmitter biosynthetic process	TAS
GO:0042220	Process	Response to cocaine	IEA
GO:0042416	Process	Dopamine biosynthetic process	IEA
GO:0042420	Process	Dopamine catabolic process	IEA
GO:0042493	Process	Response to drug	IEA
GO:0042734	Component	Presynaptic membrane	IBA	21873635
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043005	Component	Neuron projection	IDA	21957239
GO:0043025	Component	Neuronal cell body	IDA	12958153
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045121	Component	Membrane raft	IDA	21957239
GO:0045471	Process	Response to ethanol	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047485	Function	Protein N-terminus binding	IEA
GO:0051583	Process	Dopamine uptake involved in synaptic transmission	IBA	21873635
GO:0051591	Process	Response to cAMP	IEA
GO:0051620	Process	Norepinephrine uptake	IEA
GO:0051721	Function	Protein phosphatase 2A binding	IEA
GO:0060134	Process	Prepulse inhibition	IEA
GO:0090494	Process	Dopamine uptake	IDA	21957239
GO:0090494	Process	Dopamine uptake	ISS
GO:0098691	Component	Dopaminergic synapse	IEA
GO:0099055	Component	Integral component of postsynaptic membrane	IEA
GO:0099056	Component	Integral component of presynaptic membrane	IEA
GO:1990384	Process	Hyaloid vascular plexus regression	ISS

Other IDs

• MIM: 126455
• HGNC: 11049
• e!Ensembl: ENSG00000142319

Protein

• UniProt ID: Q01959
• Protein name: Sodium-dependent dopamine transporter (DA transporter) (DAT) (Solute carrier family 6 member 3)
• Protein function: Mediates sodium- and chloride-dependent transport of dopamine (PubMed:10375632, PubMed:11093780, PubMed:1406597, PubMed:15505207, PubMed:19478460, PubMed:39112701, PubMed:39112703, PubMed:39112705, PubMed:8302271). Also mediates sodium- and chlo
• PDB: 8VBY, 8Y2C, 8Y2D, 8Y2E, 8Y2F, 8Y2G, 9EO4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00209	SNF	60 → 583	Sodium:neurotransmitter symporter family	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in substantia nigra (PubMed:7637582). Expressed in axonal varicosities in dopaminergic nerve terminals (at protein level) (PubMed:17296554). Expressed in the striatum (at protein level) (PubMed:17296554). {ECO:0000269|
• Sequence:

  MSKSKCSVGLMSSVVAPAKEPNAVGPKEVELILVKEQNGVQLTSSTLTNPRQSPVEAQDR
  ETWGKKIDFLLSVIGFAVDLANVWRFPYLCYKNGGGAFLVPYLLFMVIAGMPLFYMELAL
  GQFNREGAAGVWKICPILKGVGFTVILISLYVGFFYNVIIAWALHYLFSSFTTELPWIHC
  NNSWNSPNCSDAHPGDSSGDSSGLNDTFGTTPAAEYFERGVLHLHQSHGIDDLGPPRWQL
  TACLVLVIVLLYFSLWKGVKTSGKVVWITATMPYVVLTALLLRGVTLPGAIDGIRAYLSV
  DFYRLCEASVWIDAATQVCFSLGVGFGVLIAFSSYNKFTNNCYRDAIVTTSINSLTSFSS
  GFVVFSFLGYMAQKHSVPIGDVAKDGPGLIFIIYPEAIATLPLSSAWAVVFFIMLLTLGI
  DSAMGGMESVITGLIDEFQLLHRHRELFTLFIVLATFLLSLFCVTNGGIYVFTLLDHFAA
  GTSILFGVLIEAIGVAWFYGVGQFSDDIQQMTGQRPSLYWRLCWKLVSPCFLLFVVVVSI
  VTFRPPHYGAYIFPDWANALGWVIATSSMAMVPIYAAYKFCSLPGSFREKLAYAIAPEKD
  RELVDRGEVRQFTLRHWLKV

• Sequence length: 620

Pathways

KEGG:

Synaptic vesicle cycle
Dopaminergic synapse
Parkinson disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction
Amphetamine addiction
Alcoholism

Reactome:

Dopamine clearance from the synaptic cleft
Na+/Cl- dependent neurotransmitter transporters
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention Deficit Disorder, Attention deficit hyperactivity disorder	rs786205019	15059031, 12699766, 22034972, 19120712
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Cerebral palsy	Cerebral Palsy	rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513
Developmental delay	Global developmental delay, Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	22279524
Febrile seizures	Febrile Convulsions	rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304	22279524
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	21112253, 27604308
Parkinson disease	Parkinsonian Disorders, Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, 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	16963468, 16112329, 9763484, 19590691
Parkinsonism-dystonia	PARKINSONISM-DYSTONIA, INFANTILE, 1, Parkinsonism-Dystonia, Infantile	rs431905504, rs431905514, rs1571323203	24613933, 19478460, 22279524, 21112253, 27555326
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	16762269
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085	22279524

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Mental Depression, Depressive disorder		19368898, 24780147, 24439516, 25106036, 20685009, 19844206	ClinVar
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
AIDS Associated Nephropathy	Associate	27250920
Alcohol Related Disorders	Associate	19490304
Alcoholism	Associate	34650206
Alzheimer Disease	Associate	21743130, 25496873, 33522999, 37948982, 39610284
Alzheimer Disease	Stimulate	32675415
Ameloblastoma	Associate	37628576
Anosmia	Associate	28734065
Antisocial Personality Disorder	Associate	28582390
Anxiety	Associate	19120712, 24780147, 34946924
Anxiety Disorders	Associate	34946924
Aphasia Broca	Associate	28582390
Atrophy	Associate	37948982
Attention Deficit Disorder with Hyperactivity	Associate	10654656, 11923911, 14584093, 15683546, 16261167, 16309561, 16380908, 16741944, 16894395, 17403983, 17886261, 18023044, 18553640, 18559107, 18614672, 19120712, 19196467, 19288168, 19490304, 19519258, 19676101, 19805704, 20026227, 20039948, 20053379, 20091113, 20631685, 20736997, 20957668, 21207241, 21596533, 22024001, 22182296, 22562805, 22646917, 22721595, 23153115, 23255304, 23273726, 24008096, 24461309, 24780147, 24978879, 25271118, 25313507, 25747272, 26471374, 26504078, 26621748, 26746237, 26935821, 27097961, 27327562, 28234207, 28675949, 28871191, 29172706, 30033547, 30153408, 31711956, 34650206, 37104986, 37578679, 7717410, 8825631, 9790747, 9837830
Auditory Perceptual Disorders	Associate	19805704, 21207241, 21596533, 23255304, 24780147, 27327562, 31711956, 37104986, 9837830
Autism Spectrum Disorder	Associate	19120712, 25313507, 26621748, 30153408, 36750796
Autistic Disorder	Associate	25313507, 25747272, 30153408, 34650206
Basal Ganglia Diseases	Associate	10855623
Binge Drinking	Associate	28278565
Bipolar Disorder	Associate	16261167, 18614672, 19273584, 22438288, 23255304, 24936023, 25313507, 27063557, 28751646, 30153408
Brain Diseases	Associate	25496873
Brain Injuries Traumatic	Associate	24849661, 28323555, 32108714
Breast Neoplasms	Associate	28349825
Bulimia	Associate	15069467, 19447357
Carcinoma Hepatocellular	Associate	35401884, 36714595
Carcinoma Non Small Cell Lung	Associate	31263055
Carcinoma Renal Cell	Associate	26831905
Chronobiology Disorders	Associate	24780147, 33537927
Cognition Disorders	Associate	25212851, 25496873, 28520803
Cognitive Dysfunction	Associate	16741944, 29029252, 37948982
Colorectal Neoplasms	Associate	32599859
Conduct Disorder	Associate	18553640, 21171728
Corticobasal Degeneration	Associate	26980757
COVID 19	Associate	40404934
Cutaneous Fistula	Associate	16741944, 24064458
Delirium	Associate	10581411
Dementia	Associate	25496873
Depressive Disorder	Associate	24780147, 28278565
DiGeorge Syndrome	Associate	29752303
Disease	Associate	29172706, 34650206
Disruptive Impulse Control and Conduct Disorders	Associate	20736997, 22024001, 23255304, 23899625, 28278565, 32073681, 32710539, 37104986, 9837830
Drug Related Side Effects and Adverse Reactions	Associate	10983695, 15086525, 21182589, 23628791, 7809082
Dysthymic Disorder	Associate	18826446
Dystonia	Associate	36054588
Dystonia Dopa responsive	Associate	25634433
Esophageal Neoplasms	Associate	38159255
Fahr's disease	Associate	28935882, 32873236
Feeding and Eating Disorders	Associate	15069467, 19447357
Gait Ataxia	Associate	33893195
Gaucher Disease	Associate	27413154
Genetic Diseases Inborn	Associate	21112253
Glioblastoma	Associate	29860315
Glycogen Storage Disease Type IV	Associate	16894395
HIV Infections	Associate	24057505, 28278565
Hydrocephalus Normal Pressure	Associate	33893195
Hyperkinesis	Associate	16741944, 24461309, 24780147, 27327562, 36054588
Hyperprolactinemia	Associate	30967134
Hypoxia	Inhibit	19653907
Infertility	Associate	35536100
Lafora Disease	Associate	35962561
Language Disorders	Associate	19120712
Lupus Erythematosus Systemic	Associate	1262474
Machado Joseph Disease	Associate	10855623, 11850478
Mastodynia	Associate	29723560
Mental Disorders	Associate	12366871, 15683546, 16261167, 16741944, 18826446, 19273584, 21826203, 22182296, 25313507, 25747272, 26504078, 28582390, 30153408, 34199792, 8825631, 9790747
Metabolic Syndrome	Associate	39521843
Microphthalmia Syndromic 10	Associate	39610284
Mood Disorders	Associate	23255304, 30991630
Movement Disorders	Associate	34650206
Multiple System Atrophy	Inhibit	26980757
Multiple System Atrophy	Associate	34433436
Multiple system atrophy (MSA) with orthostatic hypotension	Associate	34433436
Muscle Rigidity	Associate	30687897
Musculoskeletal Diseases	Associate	28323555
Neoplasms	Associate	23128675, 32949309
Neoplastic Syndromes Hereditary	Associate	27555326
Nephritis	Stimulate	1262474
Nerve Degeneration	Associate	32916865, 33129359, 36835019
Nervous System Diseases	Associate	19029519, 30741074, 34650206, 36835019
Neurobehavioral Manifestations	Associate	25963949
Neuroblastoma	Associate	25963949
Neurocognitive Disorders	Associate	30846720
Neurodegenerative Diseases	Associate	29965988
Neurologic Manifestations	Associate	19805704, 29965988
Neurotoxicity Syndromes	Associate	10983695, 12040046, 28155214
Obesity	Associate	12490667, 19183461, 23653272, 27228958, 30991630, 36714595
Obesity Abdominal	Associate	29998543
Obsessive Compulsive Disorder	Associate	21625751, 22454241, 36641432
Orofacial Cleft 1	Associate	25271118
Ovarian Diseases	Associate	19183461
Ovarian Neoplasms	Associate	19183461
Overweight	Associate	19183461
Paranoid Disorders	Associate	8825631, 9790747
Parkinson Disease	Associate	10762168, 10983695, 15086525, 17470495, 19590691, 19617340, 21112253, 22001994, 23899625, 25212851, 25634433, 26220939, 26980757, 28406934, 28631404, 28679601, 28734065, 30103971, 30381367, 30741074, 30958313, 32022467, 32073681, 32608210, 33791366, 33893195, 33962918, 40183420, 40404934, 9703165
Parkinson Disease	Inhibit	38447455
Parkinson Disease Secondary	Associate	1353885, 21112253, 27413154, 28336296, 28935882, 29877269, 30958313, 33893195, 34507444, 36054588
Parkinsonian Disorders	Associate	24613933
Parkinsonism Dystonia Infantile	Associate	21112253, 24613933, 27555326, 27591066, 27628529, 28520803, 30687897
Personality Disorders	Associate	18826446
Phobia Social	Associate	19120712, 25093598, 36202797
Premature Birth	Associate	29172706
Psychotic Disorders	Associate	19142409, 23861813
REM Sleep Behavior Disorder	Associate	28734065, 30741074, 32073681
Schizophrenia	Associate	18553389, 19273584, 22438288, 36641432
Schizophrenia	Inhibit	24936023
Segawa syndrome autosomal recessive	Associate	25468651
Signs and Symptoms	Associate	16741944
Sleep Deprivation	Associate	28393838, 29029252
Sleep Wake Disorders	Associate	28393838, 31711956
Sleepiness	Associate	28393838
Stress Disorders Post Traumatic	Associate	31291231, 31696411
Substance Related Disorders	Associate	25747272
Tics	Associate	19120712
Tomaculous neuropathy	Associate	28582390
Tourette Syndrome	Associate	27883923, 8825631