PDE10A (phosphodiesterase 10A)

Gene

• Entrez ID: 10846
• Gene name: Phosphodiesterase 10A
• Gene symbol: PDE10A
• Synonyms (NCBI Gene): ADSD2, HSPDE10A, IOLOD, LINC00473, PDE10A19
• Disease Acronyms (UniProt): ADSD2, IOLOD
• Chromosome: 6
• Chromosome location: 6q27
• Summary: 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 610652
• HGNC: 8772
• e!Ensembl: 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

• Tissue specificity: TISSUE SPECIFICITY: Abundant in the putamen and caudate nucleus regions of brain and testis, moderately expressed in the thyroid gland, pituitary gland, thalamus and cerebellum. {ECO:0000269|PubMed:10373451, ECO:0000269|PubMed:27058447}.
• Sequence:

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

• Sequence length: 779

Pathways

KEGG:

Purine metabolism
Metabolic pathways
cAMP signaling pathway
Morphine addiction

Reactome:

cGMP effects
G alpha (s) signalling events

Associated diseases

Causal
Disease term	Disease name	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	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
Striatal degeneration	STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2	rs875989840, rs875989841, rs1554258695	27058447, 27058446

Unknown
Disease term	Disease name	Evidence	References	Source
Benign Chorea With Striatal Involvement	childhood-onset benign chorea with striatal involvement			GenCC
Generalized Dyskinesia With Orofacial Involvement	infantile-onset generalized dyskinesia with orofacial involvement			GenCC
Bipolar Disorder	Bipolar Disorder			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Hypertension	Hypertension			GWAS
Oligodendroglioma	Oligodendroglioma			GWAS
Alzheimer disease	Alzheimer disease			GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Aging Premature	Associate	22773346
Autism Spectrum Disorder	Associate	27404287
Bipolar Disorder	Associate	22205951, 23032945, 26905414
Carcinogenesis	Associate	27939638
Carcinoma	Associate	34120511
Carcinoma Non Small Cell Lung	Associate	27939638
Carcinoma Ovarian Epithelial	Associate	36324187
Chorea	Associate	36054588
Colonic Neoplasms	Associate	24704829
Colorectal Neoplasms	Associate	26713600
Dyskinesia Drug Induced	Associate	26210536
Fibrosarcoma	Associate	34120511
Heredodegenerative Disorders Nervous System	Associate	23691025
Huntington Disease	Associate	26198591
Inflammation	Stimulate	36324187
Kidney Neoplasms	Associate	37433798
Lesch Nyhan Syndrome	Stimulate	23691025
Mental Disorders	Associate	22521361
Myopia	Associate	35021948
Neoplasm Metastasis	Associate	27270314
Neoplasms	Associate	25979379, 27939638, 36324187, 37433798
Ovarian Neoplasms	Associate	36324187
Parkinson Disease	Inhibit	26210536
Pediatric acute onset neuropsychiatric syndrome	Associate	26905414
Personality Disorders	Associate	33450964
Prostatic Neoplasms	Associate	25979379, 33450964
Psychotic Disorders	Associate	22205951
Pulmonary Disease Chronic Obstructive	Associate	37466093
Sarcoma	Associate	34120511
Stomach Neoplasms	Associate	27270314
Substance Related Disorders	Associate	22205951