PPP2R5D (protein phosphatase 2 regulatory subunit B'delta)

Gene

• Entrez ID: 5528
• Gene name: Protein phosphatase 2 regulatory subunit B'delta
• Gene symbol: PPP2R5D
• Synonyms: B56D, B56delta, HJS1, MRD35
• Chromosome: 6
• Chromosome location: 6p21.1
• Summary: The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common het

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT040037	hsa-miR-615-3p	CLASH	23622248
MIRT040037	hsa-miR-615-3p	CLASH	23622248
MIRT040037	hsa-miR-615-3p	CLASH	23622248
MIRT035781	hsa-miR-1914-5p	CLASH	23622248
MIRT535065	hsa-miR-371b-3p	PAR-CLIP	20371350
MIRT535064	hsa-miR-6513-3p	PAR-CLIP	20371350
MIRT535063	hsa-miR-6729-3p	PAR-CLIP	20371350
MIRT535062	hsa-miR-6752-3p	PAR-CLIP	20371350
MIRT535061	hsa-miR-1297	PAR-CLIP	20371350
MIRT535060	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT535059	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT535058	hsa-miR-4465	PAR-CLIP	20371350
MIRT535057	hsa-miR-3977	PAR-CLIP	20371350
MIRT535065	hsa-miR-371b-3p	PAR-CLIP	22012620
MIRT535064	hsa-miR-6513-3p	PAR-CLIP	22012620
MIRT535063	hsa-miR-6729-3p	PAR-CLIP	22012620
MIRT535062	hsa-miR-6752-3p	PAR-CLIP	22012620
MIRT535061	hsa-miR-1297	PAR-CLIP	22012620
MIRT535060	hsa-miR-26a-5p	PAR-CLIP	22012620
MIRT535059	hsa-miR-26b-5p	PAR-CLIP	22012620
MIRT535058	hsa-miR-4465	PAR-CLIP	22012620
MIRT535057	hsa-miR-3977	PAR-CLIP	22012620
MIRT535065	hsa-miR-371b-3p	PAR-CLIP	20371350
MIRT535064	hsa-miR-6513-3p	PAR-CLIP	20371350
MIRT535063	hsa-miR-6729-3p	PAR-CLIP	20371350
MIRT535062	hsa-miR-6752-3p	PAR-CLIP	20371350
MIRT535061	hsa-miR-1297	PAR-CLIP	20371350
MIRT535060	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT535059	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT535058	hsa-miR-4465	PAR-CLIP	20371350
MIRT535057	hsa-miR-3977	PAR-CLIP	20371350
MIRT535065	hsa-miR-371b-3p	PAR-CLIP	22012620
MIRT535064	hsa-miR-6513-3p	PAR-CLIP	22012620
MIRT535063	hsa-miR-6729-3p	PAR-CLIP	22012620
MIRT535062	hsa-miR-6752-3p	PAR-CLIP	22012620
MIRT535061	hsa-miR-1297	PAR-CLIP	22012620
MIRT535060	hsa-miR-26a-5p	PAR-CLIP	22012620
MIRT535059	hsa-miR-26b-5p	PAR-CLIP	22012620
MIRT535058	hsa-miR-4465	PAR-CLIP	22012620
MIRT535057	hsa-miR-3977	PAR-CLIP	22012620
MIRT1258083	hsa-miR-1207-5p	CLIP-seq
MIRT1258084	hsa-miR-1253	CLIP-seq
MIRT1258085	hsa-miR-1539	CLIP-seq
MIRT1258086	hsa-miR-2110	CLIP-seq
MIRT1258087	hsa-miR-3121-3p	CLIP-seq
MIRT1258088	hsa-miR-3126-5p	CLIP-seq
MIRT1258089	hsa-miR-3150a-3p	CLIP-seq
MIRT1258090	hsa-miR-331-3p	CLIP-seq
MIRT1258091	hsa-miR-3619-3p	CLIP-seq
MIRT1258092	hsa-miR-3686	CLIP-seq
MIRT1258093	hsa-miR-4260	CLIP-seq
MIRT1258094	hsa-miR-4277	CLIP-seq
MIRT1258095	hsa-miR-4308	CLIP-seq
MIRT1258096	hsa-miR-4434	CLIP-seq
MIRT1258097	hsa-miR-4516	CLIP-seq
MIRT1258098	hsa-miR-4722-5p	CLIP-seq
MIRT1258099	hsa-miR-4736	CLIP-seq
MIRT1258100	hsa-miR-4763-3p	CLIP-seq
MIRT1258101	hsa-miR-486-3p	CLIP-seq
MIRT1258102	hsa-miR-490-3p	CLIP-seq
MIRT1258103	hsa-miR-939	CLIP-seq
MIRT2076030	hsa-miR-1321	CLIP-seq
MIRT2076031	hsa-miR-1915	CLIP-seq
MIRT2076032	hsa-miR-3664-5p	CLIP-seq
MIRT1258094	hsa-miR-4277	CLIP-seq
MIRT2076033	hsa-miR-4330	CLIP-seq
MIRT2076034	hsa-miR-4446-3p	CLIP-seq
MIRT2076035	hsa-miR-4675	CLIP-seq
MIRT2076036	hsa-miR-4685-5p	CLIP-seq
MIRT2076037	hsa-miR-4739	CLIP-seq
MIRT2076038	hsa-miR-4741	CLIP-seq
MIRT2076039	hsa-miR-4756-5p	CLIP-seq
MIRT2076040	hsa-miR-564	CLIP-seq
MIRT2076041	hsa-miR-623	CLIP-seq
MIRT2076030	hsa-miR-1321	CLIP-seq
MIRT2599299	hsa-miR-1909	CLIP-seq
MIRT2599300	hsa-miR-3162-3p	CLIP-seq
MIRT2599301	hsa-miR-3612	CLIP-seq
MIRT2599302	hsa-miR-4270	CLIP-seq
MIRT2599303	hsa-miR-4441	CLIP-seq
MIRT2599304	hsa-miR-4661-5p	CLIP-seq
MIRT2076037	hsa-miR-4739	CLIP-seq
MIRT2076039	hsa-miR-4756-5p	CLIP-seq
MIRT2599305	hsa-miR-650	CLIP-seq
MIRT2076030	hsa-miR-1321	CLIP-seq
MIRT2599299	hsa-miR-1909	CLIP-seq
MIRT2688476	hsa-miR-1976	CLIP-seq
MIRT2688477	hsa-miR-216a	CLIP-seq
MIRT2688478	hsa-miR-216b	CLIP-seq
MIRT2599300	hsa-miR-3162-3p	CLIP-seq
MIRT2599301	hsa-miR-3612	CLIP-seq
MIRT2688479	hsa-miR-370	CLIP-seq
MIRT2599302	hsa-miR-4270	CLIP-seq
MIRT2599303	hsa-miR-4441	CLIP-seq
MIRT2599304	hsa-miR-4661-5p	CLIP-seq
MIRT2688480	hsa-miR-4710	CLIP-seq
MIRT2076037	hsa-miR-4739	CLIP-seq
MIRT2076039	hsa-miR-4756-5p	CLIP-seq
MIRT2688481	hsa-miR-4792	CLIP-seq
MIRT2688482	hsa-miR-580	CLIP-seq
MIRT2599305	hsa-miR-650	CLIP-seq
MIRT2688483	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000159	Component	Protein phosphatase type 2A complex	IBA	21873635
GO:0004721	Function	Phosphoprotein phosphatase activity	IDA	24157919
GO:0005515	Function	Protein binding	IPI	16189514, 17540176, 18782753, 19293187, 22976297, 23555304, 24157919, 25416956, 26496610, 27173435, 28330616, 29892012, 30595372, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006470	Process	Protein dephosphorylation	IBA	21873635
GO:0006470	Process	Protein dephosphorylation	IDA	24157919
GO:0007165	Process	Signal transduction	IEA
GO:0007399	Process	Nervous system development	TAS	8703017
GO:0010801	Process	Negative regulation of peptidyl-threonine phosphorylation	IEA
GO:0019888	Function	Protein phosphatase regulator activity	TAS	8703017
GO:0031952	Process	Regulation of protein autophosphorylation	IBA	21873635
GO:0035307	Process	Positive regulation of protein dephosphorylation	IEA
GO:0043666	Process	Regulation of phosphoprotein phosphatase activity	IEA
GO:0072542	Function	Protein phosphatase activator activity	IBA	21873635

Other IDs

• MIM: 601646
• HGNC: 9312
• e!Ensembl: ENSG00000112640

Protein

• UniProt ID: Q14738
• Protein name: Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform (PP2A B subunit isoform B'-delta) (PP2A B subunit isoform B56-delta) (PP2A B subunit isoform PR61-delta) (PP2A B subunit isoform R5-delta)
• Protein function: The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment.
• PDB: 8U1X, 8U89
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01603	B56	103 → 513	Protein phosphatase 2A regulatory B subunit (B56 family)	Family

• Sequence:

  MPYKLKKEKEPPKVAKCTAKPSSSGKDGGGENTEEAQPQPQPQPQPQAQSQPPSSNKRPS
  NSTPPPTQLSKIKYSGGPQIVKKERRQSSSRFNLSKNRELQKLPALKDSPTQEREELFIQ
  KLRQCCVLFDFVSDPLSDLKFKEVKRAGLNEMVEYITHSRDVVTEAIYPEAVTMFSVNLF
  RTLPPSSNPTGAEFDPEEDEPTLEAAWPHLQLVYEFFLRFLESPDFQPNIAKKYIDQKFV
  LALLDLFDSEDPRERDFLKTILHRIYGKFLGLRAYIRRQINHIFYRFIYETEHHNGIAEL
  LEILGSIINGFALPLKEEHKMFLIRVLLPLHKVKSLSVYHPQLAYCVVQFLEKESSLTEP
  VIVGLLKFWPKTHSPKEVMFLNELEEILDVIEPSEFSKVMEPLFRQLAKCVSSPHFQVAE
  RALYYWNNEYIMSLISDNAARVLPIMFPALYRNSKSHWNKTIHGLIYNALKLFMEMNQKL
  FDDCTQQYKAEKQKGRFRMKEREEMWQKIEELARLNPQYPMFRAPPPLPPVYSMETETPT
  AEDIQLLKRTVETEAVQMLKDIKKEKVLLRRKSELPQDVYTIKALEAHKRAEEFLTASQE
  AL

• Sequence length: 602

Pathways

KEGG:

mRNA surveillance pathway
Sphingolipid signaling pathway
Cell cycle
Oocyte meiosis
PI3K-Akt signaling pathway
AMPK signaling pathway
Adrenergic signaling in cardiomyocytes
T cell receptor signaling pathway
Dopaminergic synapse
Human papillomavirus infection

Reactome:

Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
DARPP-32 events
Degradation of beta-catenin by the destruction complex
Beta-catenin phosphorylation cascade
ERK/MAPK targets
ERKs are inactivated
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
CTLA4 inhibitory signaling
Platelet sensitization by LDL
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Misspliced GSK3beta mutants stabilize beta-catenin
S33 mutants of beta-catenin aren't phosphorylated
S37 mutants of beta-catenin aren't phosphorylated
S45 mutants of beta-catenin aren't phosphorylated
T41 mutants of beta-catenin aren't phosphorylated
APC truncation mutants have impaired AXIN binding
AXIN missense mutants destabilize the destruction complex
Truncations of AMER1 destabilize the destruction complex
RHO GTPases Activate Formins
RAF activation
Negative regulation of MAPK pathway
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1452048149, rs370498156, rs756691187, rs1557863430, rs1557863440, rs1557863546, rs769581210, rs202098093, rs1276388879, rs778792467, rs760059077, rs373783340, rs1557867853, rs772572695, rs753214391, rs749270162, rs548226228, rs1557870645, rs1557874046, rs749548928, rs754532606, rs1557901347, rs1557902023, rs1557909572, rs574335012, rs1557909821, rs1372713010, rs561369202, rs1476293577, rs1557910728, rs1557911386, rs375045125, rs998675361, rs1557916296, rs1557935477, rs866632178, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813
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
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Moderate intellectual disability, Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35	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	25533962, 25972378, 26168268, 25533962
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059	28191889

Unknown
Disease name	Disease term	dbSNP ID	References
Developmental dysplasia of the hip	Congenital Dysplasia Of The Hip
Congenital torticollis	Congenital torticollis
Dysmorphic features	Dysmorphic features		25533962, 20017541, 24896178, 23033978, 26576547, 8703017, 25972378, 26168268
Hypoglycemia	Hypoglycemia
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Speech delay	Speech Delay
Strabismus	Strabismus