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PDE10A (phosphodiesterase 10A)

Gene

10846

Phosphodiesterase 10A

PDE10A

ADSD2, HSPDE10A, IOLOD, LINC00473, PDE10A19

6q27

The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the co

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61733392	G>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs778899140	T>C	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs875989839	C>G	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs875989840	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs875989841	A>G	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs1332740547	G>A,T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, synonymous variant, missense variant, non coding transcript variant
rs1554258695	A>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1583275773	G>A	Likely-pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant

Show/Hide all(182)

miRTarBase ID	miRNA	Experiments	Reference
MIRT521992	hsa-miR-7151-5p	HITS-CLIP	21572407
MIRT509235	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT509234	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT509233	hsa-miR-1287-3p	HITS-CLIP	21572407
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT509237	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT509236	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT521992	hsa-miR-7151-5p	PAR-CLIP	21572407
MIRT509237	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT509236	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT509237	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT509236	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509237	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT509236	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT528903	hsa-miR-33a-3p	PAR-CLIP	22012620
MIRT528902	hsa-miR-5579-5p	PAR-CLIP	22012620
MIRT528901	hsa-miR-5681b	PAR-CLIP	22012620
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT521992	hsa-miR-7151-5p	PAR-CLIP	23446348
MIRT509237	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT509236	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	23446348
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509237	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT509236	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509237	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT509236	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	23446348
MIRT738881	hsa-miR-3679-3p	HITS-CLIP	33718276
MIRT738883	hsa-miR-3665	HITS-CLIP	33718276
MIRT521992	hsa-miR-7151-5p	HITS-CLIP	21572407
MIRT509235	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT509234	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT509233	hsa-miR-1287-3p	HITS-CLIP	21572407
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT509237	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT509236	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT521992	hsa-miR-7151-5p	PAR-CLIP	21572407
MIRT509237	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT509236	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT509237	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT509236	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509237	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT509236	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT528903	hsa-miR-33a-3p	PAR-CLIP	22012620
MIRT528902	hsa-miR-5579-5p	PAR-CLIP	22012620
MIRT528901	hsa-miR-5681b	PAR-CLIP	22012620
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT521992	hsa-miR-7151-5p	PAR-CLIP	23446348
MIRT509237	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT509236	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	23446348
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509237	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT509236	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509237	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT509236	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	23446348
MIRT1219885	hsa-miR-142-5p	CLIP-seq
MIRT1219886	hsa-miR-181a	CLIP-seq
MIRT1219887	hsa-miR-181b	CLIP-seq
MIRT1219888	hsa-miR-181c	CLIP-seq
MIRT1219889	hsa-miR-181d	CLIP-seq
MIRT739842	hsa-miR-2116	CLIP-seq
MIRT1219890	hsa-miR-217	CLIP-seq
MIRT1219891	hsa-miR-23a	CLIP-seq
MIRT1219892	hsa-miR-23b	CLIP-seq
MIRT1219893	hsa-miR-23c	CLIP-seq
MIRT1219894	hsa-miR-2467-3p	CLIP-seq
MIRT1219895	hsa-miR-297	CLIP-seq
MIRT1219896	hsa-miR-3121-5p	CLIP-seq
MIRT1219897	hsa-miR-3122	CLIP-seq
MIRT1219898	hsa-miR-3153	CLIP-seq
MIRT1219899	hsa-miR-3179	CLIP-seq
MIRT1219900	hsa-miR-3202	CLIP-seq
MIRT1219901	hsa-miR-342-5p	CLIP-seq
MIRT1219902	hsa-miR-3615	CLIP-seq
MIRT1219903	hsa-miR-3671	CLIP-seq
MIRT1219904	hsa-miR-3678-3p	CLIP-seq
MIRT1219905	hsa-miR-3913-5p	CLIP-seq
MIRT1219906	hsa-miR-3936	CLIP-seq
MIRT1219907	hsa-miR-4262	CLIP-seq
MIRT739844	hsa-miR-4273	CLIP-seq
MIRT739845	hsa-miR-4289	CLIP-seq
MIRT1219908	hsa-miR-4307	CLIP-seq
MIRT1219909	hsa-miR-4476	CLIP-seq
MIRT1219910	hsa-miR-452	CLIP-seq
MIRT1219911	hsa-miR-4664-5p	CLIP-seq
MIRT1219912	hsa-miR-4668-5p	CLIP-seq
MIRT1219913	hsa-miR-4676-3p	CLIP-seq
MIRT739843	hsa-miR-4677-5p	CLIP-seq
MIRT1219914	hsa-miR-4705	CLIP-seq
MIRT1219915	hsa-miR-4719	CLIP-seq
MIRT1219916	hsa-miR-4731-3p	CLIP-seq
MIRT1219917	hsa-miR-4738-3p	CLIP-seq
MIRT1219918	hsa-miR-4801	CLIP-seq
MIRT1219919	hsa-miR-485-3p	CLIP-seq
MIRT1219920	hsa-miR-496	CLIP-seq
MIRT1219921	hsa-miR-520d-5p	CLIP-seq
MIRT1219922	hsa-miR-524-5p	CLIP-seq
MIRT1219923	hsa-miR-543	CLIP-seq
MIRT739846	hsa-miR-548c-3p	CLIP-seq
MIRT1219924	hsa-miR-548g	CLIP-seq
MIRT1219925	hsa-miR-561	CLIP-seq
MIRT1219926	hsa-miR-567	CLIP-seq
MIRT738882	hsa-miR-657	CLIP-seq
MIRT738884	hsa-miR-764	CLIP-seq
MIRT738882	hsa-miR-657	CLIP-seq
MIRT738884	hsa-miR-764	CLIP-seq
MIRT2063578	hsa-miR-3646	CLIP-seq
MIRT2292063	hsa-miR-545	CLIP-seq
MIRT2292064	hsa-miR-2276	CLIP-seq
MIRT2292065	hsa-miR-3609	CLIP-seq
MIRT2292066	hsa-miR-3647-3p	CLIP-seq
MIRT2292067	hsa-miR-425	CLIP-seq
MIRT2292068	hsa-miR-4772-3p	CLIP-seq
MIRT2292069	hsa-miR-520g	CLIP-seq
MIRT2292070	hsa-miR-520h	CLIP-seq
MIRT2292071	hsa-miR-544	CLIP-seq
MIRT2292072	hsa-miR-548ah	CLIP-seq
MIRT2292073	hsa-miR-548v	CLIP-seq
MIRT2292074	hsa-miR-642b	CLIP-seq
MIRT2456057	hsa-miR-186	CLIP-seq
MIRT2456058	hsa-miR-3133	CLIP-seq
MIRT2456059	hsa-miR-4694-3p	CLIP-seq
MIRT2456060	hsa-miR-522	CLIP-seq
MIRT2589668	hsa-miR-1178	CLIP-seq
MIRT2589669	hsa-miR-1293	CLIP-seq
MIRT2589670	hsa-miR-3125	CLIP-seq
MIRT2589671	hsa-miR-323-5p	CLIP-seq
MIRT2589672	hsa-miR-3916	CLIP-seq
MIRT2589673	hsa-miR-4257	CLIP-seq
MIRT2589674	hsa-miR-4302	CLIP-seq
MIRT2589675	hsa-miR-4483	CLIP-seq
MIRT2589676	hsa-miR-4796-5p	CLIP-seq
MIRT2589677	hsa-miR-548a-3p	CLIP-seq
MIRT2589678	hsa-miR-548e	CLIP-seq
MIRT2589679	hsa-miR-548f	CLIP-seq
MIRT2589668	hsa-miR-1178	CLIP-seq
MIRT2589669	hsa-miR-1293	CLIP-seq
MIRT2589671	hsa-miR-323-5p	CLIP-seq
MIRT2589674	hsa-miR-4302	CLIP-seq
MIRT2589675	hsa-miR-4483	CLIP-seq
MIRT2589676	hsa-miR-4796-5p	CLIP-seq

Show/Hide all(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004114	Function	3',5'-cyclic-nucleotide phosphodiesterase activity	IBA	21873635
GO:0004118	Function	CGMP-stimulated cyclic-nucleotide phosphodiesterase activity	IBA	21873635
GO:0004118	Function	CGMP-stimulated cyclic-nucleotide phosphodiesterase activity	IDA	19689430
GO:0005829	Component	Cytosol	TAS
GO:0006198	Process	CAMP catabolic process	IEA
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0010754	Process	Negative regulation of cGMP-mediated signaling	IBA	21873635
GO:0030552	Function	CAMP binding	IDA	19689430
GO:0030552	Function	CAMP binding	NAS	15938621
GO:0030553	Function	CGMP binding	NAS	15938621
GO:0046069	Process	CGMP catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047555	Function	3',5'-cyclic-GMP phosphodiesterase activity	IEA

MIM	HGNC	e!Ensembl
610652	8772	ENSG00000112541

Protein

UniProt ID

Q9Y233

Protein name

cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A (EC 3.1.4.17)

Protein function

Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides (PubMed:10373451, PubMed:10393245, PubMed:16330539, PubMed:17389385, PubMed:27058447). Can hydrolyze both cAMP and cGMP, but has higher affin

PDB

2OUN , 2OUP , 2OUQ , 2OUR , 2OUS , 2OUU , 2OUV , 2OUY , 2WEY , 2Y0J , 2ZMF , 3SN7 , 3SNI , 3SNL , 3UI7 , 3UUO , 3WI2 , 3WS8 , 3WS9 , 3WYK , 3WYL , 3WYM , 4AEL , 4AJD , 4AJF , 4AJG , 4AJM , 4BBX , 4DDL , 4DFF , 4FCB , 4FCD , 4HEU , 4HF4 , 4LKQ , 4LLJ , 4LLK , 4LLP , 4LLX , 4LM0 , 4LM1 , 4LM2 , 4LM3 , 4LM4 , 4MRW , 4MRZ , 4MS0 , 4MSA , 4MSC , 4MSE , 4MSH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01590	GAF	91 → 235	GAF domain	Domain
PF01590	GAF	266 → 412	GAF domain	Domain
PF00233	PDEase_I	514 → 746		Domain

Sequence

MRIEERKSQHLTGLTDEKVKAYLSLHPQVLDEFVSESVSAETVEKWLKRKNNKSEDESAP
KEVSRYQDTNMQGVVYELNSYIEQRLDTGGDNQLLLYELSSIIKIATKADGFALYFLGEC
NNSLCIFTPPGIKEGKPRLIPAGPITQGTTVSAYVAKSRKTLLVEDILGDERFPRGTGLE
SGTRIQSVLCLPIVTAIGDLIGILELYRHWGKEAFCLSHQEVATANLAWASVAIHQVQVC
RGLAKQTELNDFLLDVSKTYFDNIVAIDSLLEHIMIYAKNLVNADRCALFQVDHKNKELY
SDLFDIGEEKEGKPVFKKTKEIRFSIEKGIAGQVARTGEVLNIPDAYADPRFNREVDLYT
GYTTRNILCMPIVSRGSVIGVVQMVNKISGSAFSKTDENNFKMFAVFCALALHCANMYHR
IRHSECIYRVTMEKLSYHSICTSEEWQGLMQFTLPVRLCKEIELFHFDIGPFENMWPGIF
VYMVHRSCGTSCFELEKLCRFIMSVKKNYRRVPYHNWKHAVTVAHCMYAILQNNHTLFTD
LERKGLLIACLCHDLDHRGFSNSYLQKFDHPLAALYSTSTMEQHHFSQTVSILQLEGHNI
FSTLSSSEYEQVLEIIRKAIIATDLALYFGNRKQLEEMYQTGSLNLNNQSHRDRVIGLMM
TACDLCSVTKLWPVTKLTANDIYAEFWAEGDEMKKLGIQPIPMMDRDKKDEVPQGQLGFY
NAVAIPCYTTLTQILPPTEPLLKACRDNLSQWEKVIRGEETATWISSPSVAQKAAASED

Sequence length

779

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways cAMP signaling pathway Morphine addiction		cGMP effects G alpha (s) signalling events

Associated diseases

Show/Hide Causal Diseases (8)

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental 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
Dyskinesia, limb and orofacial	DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET	rs864309484, rs796065306, rs864309483, rs797045002, rs864309515, rs1365372289, rs1553751262, rs1576526285, rs910314734, rs1576704514, rs1553726054, rs1576606182, rs1576606282	27058446, 27058447
Generalized dyskinesia with orofacial involvement	Infantile-onset generalized dyskinesia with orofacial involvement	rs778899140, rs875989839, rs1554258695, rs1332740547
Hyperthyroidism	Hyperthyroidism	rs121908861, rs121908864, rs121908874, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908883, rs121909258, rs6256, rs869312167	30367059
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605	27182965, 30595370, 30367059
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
Parkinson disease	Parkinsonian Disorders	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
Striatal degeneration	STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2	rs875989840, rs875989841, rs1554258695	27058447, 27058446

Show/Hide Unknown Diseases (12)

Unknown
Disease name	Disease term	dbSNP ID	References
Anxiety disorder	Anxiety
Benign chorea with striatal involvement	Childhood-onset benign chorea with striatal involvement
Bipolar disorder	Bipolar Disorder		22205951
Cardiovascular diseases	Cardiovascular Diseases		30595370
Conduct disorder	Conduct Disorder		20585324
Dysarthria	Dysarthria
Dyskinetic syndrome	Dyskinetic syndrome
Hemiballismus	Hemiballismus
Orofacial dyskinesia	Lingual-Facial-Buccal Dyskinesia
Motor delay	Clumsiness - motor delay
Nonorganic psychosis	Nonorganic psychosis		22205951
Psychosis	Psychotic Disorders		22205951

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