PDP1 (pyruvate dehydrogenase phosphatase catalytic subunit 1)

Gene

• Entrez ID: 54704
• Gene name: Pyruvate dehydrogenase phosphatase catalytic subunit 1
• Gene symbol: PDP1
• Synonyms (NCBI Gene): PDH, PDP, PDPC, PDPC 1, PPM2A, PPM2C
• Chromosome: 8
• Chromosome location: 8q22.1
• Summary: Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the comple

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606938	G>T	Pathogenic	Stop gained, coding sequence variant
rs1057524261	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554572659	GTGAAAGACTCTTTTATTATATTGCTGTCTCTTTGTTACCCCATGAGACTTTGCTAGAGATTGAAAATGCAGTGGAGAGCG>CT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554572756	TTC>-	Pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018451	hsa-miR-335-5p	Microarray	18185580
MIRT1222346	hsa-miR-34c-3p	CLIP-seq
MIRT1222347	hsa-miR-1184	CLIP-seq
MIRT1222348	hsa-miR-1205	CLIP-seq
MIRT1222349	hsa-miR-1244	CLIP-seq
MIRT1222350	hsa-miR-127-5p	CLIP-seq
MIRT1222351	hsa-miR-199a-3p	CLIP-seq
MIRT1222352	hsa-miR-199b-3p	CLIP-seq
MIRT1222353	hsa-miR-302f	CLIP-seq
MIRT1222354	hsa-miR-3129-5p	CLIP-seq
MIRT1222355	hsa-miR-3140-3p	CLIP-seq
MIRT1222356	hsa-miR-3163	CLIP-seq
MIRT1222357	hsa-miR-323-5p	CLIP-seq
MIRT1222358	hsa-miR-3620	CLIP-seq
MIRT1222359	hsa-miR-370	CLIP-seq
MIRT1222360	hsa-miR-3935	CLIP-seq
MIRT1222361	hsa-miR-4252	CLIP-seq
MIRT1222362	hsa-miR-4269	CLIP-seq
MIRT1222363	hsa-miR-4274	CLIP-seq
MIRT1222364	hsa-miR-4276	CLIP-seq
MIRT1222365	hsa-miR-4477a	CLIP-seq
MIRT1222366	hsa-miR-4503	CLIP-seq
MIRT1222367	hsa-miR-4514	CLIP-seq
MIRT1222368	hsa-miR-4668-3p	CLIP-seq
MIRT1222369	hsa-miR-4692	CLIP-seq
MIRT1222370	hsa-miR-4694-5p	CLIP-seq
MIRT1222371	hsa-miR-4707-5p	CLIP-seq
MIRT1222372	hsa-miR-4711-5p	CLIP-seq
MIRT1222373	hsa-miR-4715-3p	CLIP-seq
MIRT1222374	hsa-miR-4722-3p	CLIP-seq
MIRT1222375	hsa-miR-4724-3p	CLIP-seq
MIRT1222376	hsa-miR-4738-3p	CLIP-seq
MIRT1222377	hsa-miR-4742-5p	CLIP-seq
MIRT1222378	hsa-miR-4760-5p	CLIP-seq
MIRT1222379	hsa-miR-4802-5p	CLIP-seq
MIRT1222380	hsa-miR-518a-5p	CLIP-seq
MIRT1222381	hsa-miR-527	CLIP-seq
MIRT1222382	hsa-miR-544	CLIP-seq
MIRT1222383	hsa-miR-548a-3p	CLIP-seq
MIRT1222384	hsa-miR-548e	CLIP-seq
MIRT1222385	hsa-miR-548f	CLIP-seq
MIRT1222386	hsa-miR-561	CLIP-seq
MIRT1222387	hsa-miR-577	CLIP-seq
MIRT1222388	hsa-miR-630	CLIP-seq
MIRT1222389	hsa-miR-876-3p	CLIP-seq
MIRT1222390	hsa-miR-944	CLIP-seq
MIRT2064426	hsa-miR-3156-5p	CLIP-seq
MIRT2064427	hsa-miR-505	CLIP-seq
MIRT2292755	hsa-miR-3145-3p	CLIP-seq
MIRT1222365	hsa-miR-4477a	CLIP-seq
MIRT1222388	hsa-miR-630	CLIP-seq
MIRT2392345	hsa-miR-3976	CLIP-seq
MIRT1222361	hsa-miR-4252	CLIP-seq
MIRT2392346	hsa-miR-4698	CLIP-seq
MIRT2590759	hsa-miR-1202	CLIP-seq
MIRT1222349	hsa-miR-1244	CLIP-seq
MIRT2590760	hsa-miR-1266	CLIP-seq
MIRT2590761	hsa-miR-145	CLIP-seq
MIRT2590762	hsa-miR-1911	CLIP-seq
MIRT2590763	hsa-miR-198	CLIP-seq
MIRT2590764	hsa-miR-3120-3p	CLIP-seq
MIRT1222355	hsa-miR-3140-3p	CLIP-seq
MIRT2292755	hsa-miR-3145-3p	CLIP-seq
MIRT2064426	hsa-miR-3156-5p	CLIP-seq
MIRT2590765	hsa-miR-3198	CLIP-seq
MIRT1222357	hsa-miR-323-5p	CLIP-seq
MIRT2590766	hsa-miR-329	CLIP-seq
MIRT2590767	hsa-miR-338-5p	CLIP-seq
MIRT2590768	hsa-miR-34b	CLIP-seq
MIRT1222346	hsa-miR-34c-3p	CLIP-seq
MIRT1222358	hsa-miR-3620	CLIP-seq
MIRT2590769	hsa-miR-362-3p	CLIP-seq
MIRT2590770	hsa-miR-3664-3p	CLIP-seq
MIRT2590771	hsa-miR-3671	CLIP-seq
MIRT1222359	hsa-miR-370	CLIP-seq
MIRT2590772	hsa-miR-3941	CLIP-seq
MIRT2590773	hsa-miR-3972	CLIP-seq
MIRT2590774	hsa-miR-4272	CLIP-seq
MIRT1222364	hsa-miR-4276	CLIP-seq
MIRT2590775	hsa-miR-4282	CLIP-seq
MIRT2590776	hsa-miR-4309	CLIP-seq
MIRT2590777	hsa-miR-4421	CLIP-seq
MIRT2590778	hsa-miR-4518	CLIP-seq
MIRT2590779	hsa-miR-451b	CLIP-seq
MIRT2590780	hsa-miR-455-3p	CLIP-seq
MIRT2590781	hsa-miR-455-5p	CLIP-seq
MIRT2590782	hsa-miR-4635	CLIP-seq
MIRT2590783	hsa-miR-4661-5p	CLIP-seq
MIRT2590784	hsa-miR-4691-5p	CLIP-seq
MIRT1222370	hsa-miR-4694-5p	CLIP-seq
MIRT1222373	hsa-miR-4715-3p	CLIP-seq
MIRT2590785	hsa-miR-4719	CLIP-seq
MIRT2590786	hsa-miR-4735-5p	CLIP-seq
MIRT1222376	hsa-miR-4738-3p	CLIP-seq
MIRT2590787	hsa-miR-4755-3p	CLIP-seq
MIRT2590788	hsa-miR-4775	CLIP-seq
MIRT2590789	hsa-miR-4776-3p	CLIP-seq
MIRT2590790	hsa-miR-4793-5p	CLIP-seq
MIRT2590791	hsa-miR-4795-3p	CLIP-seq
MIRT1222380	hsa-miR-518a-5p	CLIP-seq
MIRT2590792	hsa-miR-526b	CLIP-seq
MIRT1222381	hsa-miR-527	CLIP-seq
MIRT2590793	hsa-miR-548c-3p	CLIP-seq
MIRT2590794	hsa-miR-550b	CLIP-seq
MIRT2590795	hsa-miR-590-3p	CLIP-seq
MIRT2590796	hsa-miR-603	CLIP-seq
MIRT2590797	hsa-miR-607	CLIP-seq
MIRT2590798	hsa-miR-875-3p	CLIP-seq
MIRT1222389	hsa-miR-876-3p	CLIP-seq
MIRT2590759	hsa-miR-1202	CLIP-seq
MIRT2590760	hsa-miR-1266	CLIP-seq
MIRT2590762	hsa-miR-1911	CLIP-seq
MIRT2590764	hsa-miR-3120-3p	CLIP-seq
MIRT1222355	hsa-miR-3140-3p	CLIP-seq
MIRT2292755	hsa-miR-3145-3p	CLIP-seq
MIRT2064426	hsa-miR-3156-5p	CLIP-seq
MIRT2590765	hsa-miR-3198	CLIP-seq
MIRT1222357	hsa-miR-323-5p	CLIP-seq
MIRT2590766	hsa-miR-329	CLIP-seq
MIRT1222358	hsa-miR-3620	CLIP-seq
MIRT2590769	hsa-miR-362-3p	CLIP-seq
MIRT2590770	hsa-miR-3664-3p	CLIP-seq
MIRT2590771	hsa-miR-3671	CLIP-seq
MIRT1222359	hsa-miR-370	CLIP-seq
MIRT2590772	hsa-miR-3941	CLIP-seq
MIRT2590773	hsa-miR-3972	CLIP-seq
MIRT2590774	hsa-miR-4272	CLIP-seq
MIRT1222364	hsa-miR-4276	CLIP-seq
MIRT2590775	hsa-miR-4282	CLIP-seq
MIRT2590776	hsa-miR-4309	CLIP-seq
MIRT2590777	hsa-miR-4421	CLIP-seq
MIRT2590778	hsa-miR-4518	CLIP-seq
MIRT2590779	hsa-miR-451b	CLIP-seq
MIRT2590783	hsa-miR-4661-5p	CLIP-seq
MIRT2590784	hsa-miR-4691-5p	CLIP-seq
MIRT1222370	hsa-miR-4694-5p	CLIP-seq
MIRT1222373	hsa-miR-4715-3p	CLIP-seq
MIRT2590786	hsa-miR-4735-5p	CLIP-seq
MIRT1222376	hsa-miR-4738-3p	CLIP-seq
MIRT2590787	hsa-miR-4755-3p	CLIP-seq
MIRT2590788	hsa-miR-4775	CLIP-seq
MIRT2590789	hsa-miR-4776-3p	CLIP-seq
MIRT2590790	hsa-miR-4793-5p	CLIP-seq
MIRT2590791	hsa-miR-4795-3p	CLIP-seq
MIRT1222380	hsa-miR-518a-5p	CLIP-seq
MIRT1222381	hsa-miR-527	CLIP-seq
MIRT2590794	hsa-miR-550b	CLIP-seq
MIRT2590795	hsa-miR-590-3p	CLIP-seq
MIRT2590796	hsa-miR-603	CLIP-seq
MIRT2590798	hsa-miR-875-3p	CLIP-seq
MIRT1222389	hsa-miR-876-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004722	Function	Protein serine/threonine phosphatase activity	IDA	20801214
GO:0004724	Function	Magnesium-dependent protein serine/threonine phosphatase activity	IBA	21873635
GO:0004741	Function	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006470	Process	Protein dephosphorylation	IBA	21873635
GO:0010510	Process	Regulation of acetyl-CoA biosynthetic process from pyruvate	TAS
GO:0035970	Process	Peptidyl-threonine dephosphorylation	IDA	20801214
GO:0046872	Function	Metal ion binding	IEA
GO:1904184	Process	Positive regulation of pyruvate dehydrogenase activity	IBA	21873635

Other IDs

• MIM: 605993
• HGNC: 9279
• e!Ensembl: ENSG00000164951

Protein

• UniProt ID: Q9P0J1
• Protein name: [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial (PDP 1) (EC 3.1.3.43) (Protein phosphatase 2C) (Pyruvate dehydrogenase phosphatase catalytic subunit 1) (PDPC 1)
• Protein function: Mitochondrial enzyme that catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex (PDC), thereby stimulating the conversion of pyruvate into acetyl-CoA. {ECO:000
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00481	PP2C	193 → 487	Protein phosphatase 2C	Family

• Sequence:

  MPAPTQLFFPLIRNCELSRIYGTACYCHHKHLCCSSSYIPQSRLRYTPHPAYATFCRPKE
  NWWQYTQGRRYASTPQKFYLTPPQVNSILKANEYSFKVPEFDGKNVSSILGFDSNQLPAN
  APIEDRRSAATCLQTRGMLLGVFDGHAGCACSQAVSERLFYYIAVSLLPHETLLEIENAV
  ESGRALLPILQWHKHPNDYFSKEASKLYFNSLRTYWQELIDLNTGESTDIDVKEALINAF
  KRLDNDISLEAQVGDPNSFLNYLVLRVAFSGATACVAHVDGVDLHVANTGDSRAMLGVQE
  EDGSWSAVTLSNDHNAQNERELERLKLEHPKSEAKSVVKQDRLLGLLMPFRAFGDVKFKW
  SIDLQKRVIESGPDQLNDNEYTKFIPPNYHTPPYLTAEPEVTYHRLRPQDKFLVLATDGL
  WETMHRQDVVRIVGEYLTGMHHQQPIAVGGYKVTLGQMHGLLTERRTKMSSVFEDQNAAT
  HLIRHAVGNNEFGTVDHERLSKMLSLPEELARMYRDDITIIVVQFNSHVVGAYQNQE

• Sequence length: 537

Pathways

Reactome:

Regulation of pyruvate dehydrogenase (PDH) complex

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
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
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29335542
Pyruvate dehydrogenase phosphatase deficiency	Pyruvate dehydrogenase phosphatase deficiency	rs1554572756, rs267606938	27604308, 31392110, 15855260

Unknown
Disease term	Disease name	Evidence	References	Source
Alzheimer disease	Alzheimer disease			GWAS
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acidosis Lactic	Associate	12551913, 30923124
Autistic Disorder	Associate	24002085
Breast Neoplasms	Associate	23028062, 29914147, 35120331, 37526524
Carcinogenesis	Associate	35163779
Carcinoma Hepatocellular	Associate	28378759, 37567069
Carcinoma Non Small Cell Lung	Inhibit	15736311
Coenzyme Q10 Deficiency	Associate	26014431
Corneal Endothelial Cell Loss	Associate	11683377
Dyskinesias	Associate	27474170
Endometrial Hyperplasia	Inhibit	30745857
Genetic Diseases X Linked	Associate	12551913
Glioma	Associate	25243911
Hyperplasia	Associate	30745857
Hypoxia Brain	Associate	27474170
Insulin Resistance	Associate	15897476, 22851577
Isobutyryl CoA dehydrogenase deficiency	Associate	33506479
Leigh Disease	Associate	35792828
Leukemia	Associate	34375613
Leukemia Myeloid Acute	Associate	37935978
Leukemia T Cell	Associate	34375613
Lung Diseases	Associate	37526524
Lung Neoplasms	Associate	17881895
Lymphatic Metastasis	Associate	25954108
Melanoma	Associate	28595656
Mitochondrial Diseases	Associate	26014431, 35163779
Nasopharyngeal Carcinoma	Associate	35656815
Neoplasm Metastasis	Associate	25954108, 37526524
Neoplasms	Associate	15736311, 25152236, 25954108, 28846077, 36364182
Obesity	Associate	15897476
Opitz GBBB Syndrome X Linked	Associate	40367233
Ovarian Neoplasms	Associate	36276992
Pancreatic Neoplasms	Associate	40367233
Polycystic Ovary Syndrome	Associate	30745857
Pulmonary Arterial Hypertension	Associate	29070699
Pyruvate Dehydrogenase Complex Deficiency Disease	Associate	18206410, 30304514
Schizophrenia	Associate	19264455
Squamous Cell Carcinoma of Head and Neck	Associate	27474170
Stomach Neoplasms	Associate	25954108, 35163779
Thyroid Neoplasms	Associate	40304806
Uveal melanoma	Associate	35046531