AIMP1 (aminoacyl tRNA synthetase complex interacting multifunctional protein 1)

Gene

• Entrez ID: 9255
• Gene name: Aminoacyl tRNA synthetase complex interacting multifunctional protein 1
• Gene symbol: AIMP1
• Synonyms: EMAP2, EMAPII, HLD3, SCYE1, p43
• Chromosome: 4
• Chromosome location: 4q24
• Summary: The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906865	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs724159969	C>T	Pathogenic	Stop gained, coding sequence variant
rs750731609	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs879253867	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057520101	AGAAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020704	hsa-miR-155-5p	Proteomics	18668040
MIRT031610	hsa-miR-16-5p	Proteomics	18668040
MIRT543891	hsa-miR-3133	PAR-CLIP	21572407
MIRT543890	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT543889	hsa-miR-320a	PAR-CLIP	21572407
MIRT543888	hsa-miR-320b	PAR-CLIP	21572407
MIRT543887	hsa-miR-320c	PAR-CLIP	21572407
MIRT543886	hsa-miR-320d	PAR-CLIP	21572407
MIRT543885	hsa-miR-4429	PAR-CLIP	21572407
MIRT355843	hsa-miR-101-5p	PAR-CLIP	21572407
MIRT543884	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT543883	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT329263	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT543882	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT329262	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT329264	hsa-miR-568	PAR-CLIP	21572407
MIRT543891	hsa-miR-3133	PAR-CLIP	21572407
MIRT543890	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT543889	hsa-miR-320a	PAR-CLIP	21572407
MIRT543888	hsa-miR-320b	PAR-CLIP	21572407
MIRT543887	hsa-miR-320c	PAR-CLIP	21572407
MIRT543886	hsa-miR-320d	PAR-CLIP	21572407
MIRT543885	hsa-miR-4429	PAR-CLIP	21572407
MIRT355843	hsa-miR-101-5p	PAR-CLIP	21572407
MIRT543884	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT543883	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT329263	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT543882	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT329262	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT329264	hsa-miR-568	PAR-CLIP	21572407
MIRT774512	hsa-miR-331-5p	CLIP-seq
MIRT774513	hsa-miR-4504	CLIP-seq
MIRT774514	hsa-miR-4678	CLIP-seq
MIRT774515	hsa-miR-136	CLIP-seq
MIRT774516	hsa-miR-3183	CLIP-seq
MIRT774517	hsa-miR-4723-3p	CLIP-seq
MIRT774518	hsa-miR-885-5p	CLIP-seq
MIRT774519	hsa-miR-891b	CLIP-seq
MIRT774520	hsa-miR-146a	CLIP-seq
MIRT774521	hsa-miR-146b-5p	CLIP-seq
MIRT774522	hsa-miR-526b	CLIP-seq
MIRT774523	hsa-miR-580	CLIP-seq
MIRT774524	hsa-miR-589	CLIP-seq
MIRT1928584	hsa-miR-3145-3p	CLIP-seq
MIRT2169349	hsa-miR-3662	CLIP-seq
MIRT2169350	hsa-miR-4307	CLIP-seq
MIRT2169351	hsa-miR-548ae	CLIP-seq
MIRT2169352	hsa-miR-548aj	CLIP-seq
MIRT2169353	hsa-miR-548am	CLIP-seq
MIRT2169354	hsa-miR-548x	CLIP-seq
MIRT2471901	hsa-miR-1185	CLIP-seq
MIRT2471902	hsa-miR-1283	CLIP-seq
MIRT2471903	hsa-miR-137	CLIP-seq
MIRT2471904	hsa-miR-1914	CLIP-seq
MIRT2471905	hsa-miR-203	CLIP-seq
MIRT2471906	hsa-miR-300	CLIP-seq
MIRT2471907	hsa-miR-3119	CLIP-seq
MIRT1928584	hsa-miR-3145-3p	CLIP-seq
MIRT2471908	hsa-miR-324-5p	CLIP-seq
MIRT2471909	hsa-miR-338-5p	CLIP-seq
MIRT2471910	hsa-miR-34b	CLIP-seq
MIRT2471911	hsa-miR-3613-3p	CLIP-seq
MIRT2471912	hsa-miR-361-5p	CLIP-seq
MIRT2471913	hsa-miR-3661	CLIP-seq
MIRT2471914	hsa-miR-3679-5p	CLIP-seq
MIRT2471915	hsa-miR-374a	CLIP-seq
MIRT2471916	hsa-miR-374b	CLIP-seq
MIRT2471917	hsa-miR-381	CLIP-seq
MIRT2471918	hsa-miR-3922-5p	CLIP-seq
MIRT2471919	hsa-miR-3924	CLIP-seq
MIRT2471920	hsa-miR-3929	CLIP-seq
MIRT2471921	hsa-miR-3942-3p	CLIP-seq
MIRT2471922	hsa-miR-4252	CLIP-seq
MIRT2471923	hsa-miR-4275	CLIP-seq
MIRT2471924	hsa-miR-4279	CLIP-seq
MIRT2169350	hsa-miR-4307	CLIP-seq
MIRT2471925	hsa-miR-4419b	CLIP-seq
MIRT2471926	hsa-miR-4426	CLIP-seq
MIRT2471927	hsa-miR-4428	CLIP-seq
MIRT2471928	hsa-miR-4468	CLIP-seq
MIRT2471929	hsa-miR-4478	CLIP-seq
MIRT2471930	hsa-miR-4502	CLIP-seq
MIRT2471931	hsa-miR-4528	CLIP-seq
MIRT2471932	hsa-miR-4647	CLIP-seq
MIRT2471933	hsa-miR-4662b	CLIP-seq
MIRT2471934	hsa-miR-4666-3p	CLIP-seq
MIRT2471935	hsa-miR-4668-3p	CLIP-seq
MIRT2471936	hsa-miR-4731-3p	CLIP-seq
MIRT2471937	hsa-miR-4775	CLIP-seq
MIRT2471938	hsa-miR-4793-5p	CLIP-seq
MIRT2471939	hsa-miR-4795-3p	CLIP-seq
MIRT2471940	hsa-miR-4801	CLIP-seq
MIRT2471941	hsa-miR-513a-3p	CLIP-seq
MIRT2471942	hsa-miR-548c-3p	CLIP-seq
MIRT2471943	hsa-miR-550a	CLIP-seq
MIRT2471944	hsa-miR-590-3p	CLIP-seq
MIRT2471945	hsa-miR-600	CLIP-seq
MIRT2471946	hsa-miR-605	CLIP-seq
MIRT2471947	hsa-miR-616	CLIP-seq
MIRT2471948	hsa-miR-631	CLIP-seq
MIRT2471949	hsa-miR-649	CLIP-seq
MIRT2471950	hsa-miR-889	CLIP-seq
MIRT2471901	hsa-miR-1185	CLIP-seq
MIRT2471902	hsa-miR-1283	CLIP-seq
MIRT2471904	hsa-miR-1914	CLIP-seq
MIRT2471905	hsa-miR-203	CLIP-seq
MIRT2471906	hsa-miR-300	CLIP-seq
MIRT2471907	hsa-miR-3119	CLIP-seq
MIRT1928584	hsa-miR-3145-3p	CLIP-seq
MIRT2471908	hsa-miR-324-5p	CLIP-seq
MIRT2471909	hsa-miR-338-5p	CLIP-seq
MIRT2471910	hsa-miR-34b	CLIP-seq
MIRT2471911	hsa-miR-3613-3p	CLIP-seq
MIRT2471913	hsa-miR-3661	CLIP-seq
MIRT2471914	hsa-miR-3679-5p	CLIP-seq
MIRT2471915	hsa-miR-374a	CLIP-seq
MIRT2471916	hsa-miR-374b	CLIP-seq
MIRT2471917	hsa-miR-381	CLIP-seq
MIRT2471918	hsa-miR-3922-5p	CLIP-seq
MIRT2471920	hsa-miR-3929	CLIP-seq
MIRT2471922	hsa-miR-4252	CLIP-seq
MIRT2471924	hsa-miR-4279	CLIP-seq
MIRT2169350	hsa-miR-4307	CLIP-seq
MIRT2471925	hsa-miR-4419b	CLIP-seq
MIRT2471927	hsa-miR-4428	CLIP-seq
MIRT2471929	hsa-miR-4478	CLIP-seq
MIRT2471930	hsa-miR-4502	CLIP-seq
MIRT2471934	hsa-miR-4666-3p	CLIP-seq
MIRT2471935	hsa-miR-4668-3p	CLIP-seq
MIRT2471936	hsa-miR-4731-3p	CLIP-seq
MIRT2471938	hsa-miR-4793-5p	CLIP-seq
MIRT2471940	hsa-miR-4801	CLIP-seq
MIRT2471941	hsa-miR-513a-3p	CLIP-seq
MIRT2471942	hsa-miR-548c-3p	CLIP-seq
MIRT2471943	hsa-miR-550a	CLIP-seq
MIRT2471946	hsa-miR-605	CLIP-seq
MIRT2471947	hsa-miR-616	CLIP-seq
MIRT2471948	hsa-miR-631	CLIP-seq
MIRT2471949	hsa-miR-649	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IDA	11306575
GO:0001525	Process	Angiogenesis	IEA
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IDA	11741979
GO:0005125	Function	Cytokine activity	ISS	11306575
GO:0005515	Function	Protein binding	IPI	11741979, 22190034, 24312579, 25416956, 28514442
GO:0005615	Component	Extracellular space	ISS
GO:0005634	Component	Nucleus	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA	19289464
GO:0005829	Component	Cytosol	TAS
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007267	Process	Cell-cell signaling	IDA	11741979
GO:0009986	Component	Cell surface	IDA	11741979
GO:0016020	Component	Membrane	HDA	19946888
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IDA	10791971, 14500886, 19131329
GO:0042803	Function	Protein homodimerization activity	IDA	11306575
GO:0050900	Process	Leukocyte migration	IDA	11306575
GO:0051020	Function	GTPase binding	IPI	24337748
GO:0051607	Process	Defense response to virus	IEA
GO:0070094	Process	Positive regulation of glucagon secretion	ISS

Other IDs

• MIM: 603605
• HGNC: 10648
• e!Ensembl: ENSG00000164022

Protein

• UniProt ID: Q12904
• Protein name: Aminoacyl tRNA synthase complex-interacting multifunctional protein 1 (Multisynthase complex auxiliary component p43) [Cleaved into: Endothelial monocyte-activating polypeptide 2 (EMAP-2) (Endothelial monocyte-activating polypeptide II) (EMAP-II) (Small i
• Protein function: Non-catalytic component of the multisynthase complex. Stimulates the catalytic activity of cytoplasmic arginyl-tRNA synthase (PubMed:10358004). Binds tRNA. Possesses inflammatory cytokine activity (PubMed:11306575). Negatively regulates TGF-beta
• PDB: 1E7Z, 1EUJ, 1FL0, 4R3Z, 8J9S, 8ONG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01588	tRNA_bind	157 → 250	Putative tRNA binding domain	Domain

• Sequence:

  MANNDAVLKRLEQKGAEADQIIEYLKQQVSLLKEKAILQATLREEKKLRVENAKLKKEIE
  ELKQELIQAEIQNGVKQIPFPSGTPLHANSMVSENVIQSTAVTTVSSGTKEQIKGGTGDE
  KKAKEKIEKKGEKKEKKQQSIAGSADSKPIDVSRLDLRIGCIITARKHPDADSLYVEEVD
  VGEIAPRTVVSGLVNHVPLEQMQNRMVILLCNLKPAKMRGVLSQAMVMCASSPEKIEILA
  PPNGSVPGDRITFDAFPGEPDKELNPKKKIWEQIQPDLHTNDECVATYKGVPFEVKGKGV
  CRAQTMSNSGIK

• Sequence length: 312

Pathways

Reactome:

Cytosolic tRNA aminoacylation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
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
Hypomyelinating leukodystrophy	Pelizaeus-Merzbacher-like disease, autosomal recessive, 2	rs74315311, rs74315312, rs796065027, rs74315313, rs74315314, rs796065028, rs796065029, rs132630292, rs72466451, rs387906865, rs587776888, rs191582628, rs141156009, rs587776983, rs483352809, rs397514734, rs587777428, rs587777429, rs587777467, rs587777468, rs672601372, rs672601373, rs672601374, rs672601375, rs369398935, rs724159969, rs761635539, rs372781135, rs876657403, rs796052124, rs796052125, rs796052126, rs796052127, rs797045074, rs767399782, rs34757931, rs202003795, rs869312968, rs780663139, rs752127949, rs878853083, rs879253867, rs886037931, rs886037932, rs758595075, rs886037933, rs886039470, rs886039904, rs886041021, rs886041019, rs886041018, rs886041013, rs886041011, rs886041010, rs886041007, rs886041661, rs763593155, rs886041240, rs751575036, rs886043378, rs1064792894, rs1057519455, rs1057519456, rs769713780, rs1064793505, rs1064795865, rs1085307499, rs529613640, rs149587849, rs1131691696, rs1553500497, rs1356633840, rs748787734, rs747359907, rs763737931, rs898824971, rs1553318956, rs1474000585, rs1554310600, rs1473859981, rs1554131502, rs1033946108, rs1568409626, rs750731609, rs1564617866, rs1305006253, rs770637715, rs1255115751, rs1582181247, rs770857344, rs773388338, rs1156407486, rs751006626, rs767639108, rs1582184344, rs1582177745, rs1571908452, rs1239964151, rs1599405952, rs886041015, rs2086193735, rs1375875748, rs1671863383, rs1671854827, rs1302747902, rs1571908056	26173967, 26257172, 21092922, 30486714
Mental retardation	Severe intellectual disability, Mild Mental Retardation, Moderate 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
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Non-syndromic intellectual disability	Autosomal recessive non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Pelizaeus-merzbacher disease	Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	rs132630278, rs132630279, rs11543022, rs132630280, rs132630281, rs132630282, rs132630284, rs132630285, rs132630286, rs132630288, rs132630289, rs132630291, rs132630292, rs132630293, rs1569428537, rs1569427707, rs132630296, rs398123467, rs797045064, rs886044450, rs1060499653, rs1060500909, rs1556267215, rs1556273167, rs1556269487, rs1556267388, rs864622194, rs1556267123, rs1556270312, rs1569427311, rs1569427275, rs1455411788, rs1602373055, rs1602382829, rs1602384238, rs1602385663, rs1602383261, rs1602383268
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Seizure	Generalized seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease name	Disease term	dbSNP ID	References
Absence of septum pellucidum	Absence of septum pellucidum
Acquired kyphoscoliosis	Acquired Kyphoscoliosis
Atrophy of corpus callosum	Atrophy of corpus callosum
Central visual impairment	Central visual impairment
Cerebral atrophy	Cerebral atrophy
Congenital kyphoscoliosis	Congenital kyphoscoliosis
Cortical dysplasia	Cortical Dysplasia
Dyskinetic syndrome	Dyskinetic syndrome
Dyssomnia	Dyssomnias
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Mental depression	Depressive disorder	rs587778876, rs587778877
Motor delay	Clumsiness - motor delay
Salaam seizures	Salaam Seizures
Schilder disease	Diffuse Cerebral Sclerosis of Schilder
Sleep disorders	Sleep Disorders
Stereotyped behavior	Stereotyped Behavior