AIMP2 (aminoacyl tRNA synthetase complex interacting multifunctional protein 2)

Gene

• Entrez ID: 7965
• Gene name: Aminoacyl tRNA synthetase complex interacting multifunctional protein 2
• Gene symbol: AIMP2
• Synonyms: HLD17, JTV-1, JTV1, P38
• Chromosome: 7
• Chromosome location: 7p22.1
• Summary: The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assemb

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016291	hsa-miR-193b-3p	Microarray	20304954
MIRT025288	hsa-miR-34a-5p	Proteomics	21566225
MIRT044033	hsa-miR-365a-3p	CLASH	23622248
MIRT037437	hsa-miR-744-5p	CLASH	23622248
MIRT1928585	hsa-miR-193a-3p	CLIP-seq
MIRT1928586	hsa-miR-193b	CLIP-seq
MIRT1928587	hsa-miR-3117-5p	CLIP-seq
MIRT1928588	hsa-miR-3176	CLIP-seq
MIRT1928589	hsa-miR-345	CLIP-seq
MIRT1928590	hsa-miR-374c	CLIP-seq
MIRT1928591	hsa-miR-3922-3p	CLIP-seq
MIRT1928592	hsa-miR-4432	CLIP-seq
MIRT1928593	hsa-miR-4522	CLIP-seq
MIRT1928594	hsa-miR-4668-3p	CLIP-seq
MIRT1928595	hsa-miR-4714-5p	CLIP-seq
MIRT1928596	hsa-miR-514	CLIP-seq
MIRT1928597	hsa-miR-514b-3p	CLIP-seq
MIRT1928598	hsa-miR-548u	CLIP-seq
MIRT1928599	hsa-miR-549	CLIP-seq
MIRT1928600	hsa-miR-655	CLIP-seq
MIRT1928585	hsa-miR-193a-3p	CLIP-seq
MIRT1928586	hsa-miR-193b	CLIP-seq
MIRT2169355	hsa-miR-300	CLIP-seq
MIRT1928587	hsa-miR-3117-5p	CLIP-seq
MIRT2169356	hsa-miR-3127-3p	CLIP-seq
MIRT2169357	hsa-miR-3140-3p	CLIP-seq
MIRT1928588	hsa-miR-3176	CLIP-seq
MIRT1928589	hsa-miR-345	CLIP-seq
MIRT1928590	hsa-miR-374c	CLIP-seq
MIRT2169358	hsa-miR-381	CLIP-seq
MIRT1928591	hsa-miR-3922-3p	CLIP-seq
MIRT1928592	hsa-miR-4432	CLIP-seq
MIRT1928593	hsa-miR-4522	CLIP-seq
MIRT1928595	hsa-miR-4714-5p	CLIP-seq
MIRT1928596	hsa-miR-514	CLIP-seq
MIRT1928597	hsa-miR-514b-3p	CLIP-seq
MIRT1928598	hsa-miR-548u	CLIP-seq
MIRT1928599	hsa-miR-549	CLIP-seq
MIRT1928600	hsa-miR-655	CLIP-seq
MIRT2443392	hsa-miR-1276	CLIP-seq
MIRT1928585	hsa-miR-193a-3p	CLIP-seq
MIRT1928586	hsa-miR-193b	CLIP-seq
MIRT2443393	hsa-miR-29a	CLIP-seq
MIRT2443394	hsa-miR-29b	CLIP-seq
MIRT2443395	hsa-miR-29c	CLIP-seq
MIRT2169355	hsa-miR-300	CLIP-seq
MIRT1928587	hsa-miR-3117-5p	CLIP-seq
MIRT2169356	hsa-miR-3127-3p	CLIP-seq
MIRT1928588	hsa-miR-3176	CLIP-seq
MIRT1928589	hsa-miR-345	CLIP-seq
MIRT2443396	hsa-miR-3663-3p	CLIP-seq
MIRT1928590	hsa-miR-374c	CLIP-seq
MIRT2169358	hsa-miR-381	CLIP-seq
MIRT1928591	hsa-miR-3922-3p	CLIP-seq
MIRT1928592	hsa-miR-4432	CLIP-seq
MIRT1928593	hsa-miR-4522	CLIP-seq
MIRT1928594	hsa-miR-4668-3p	CLIP-seq
MIRT1928595	hsa-miR-4714-5p	CLIP-seq
MIRT1928598	hsa-miR-548u	CLIP-seq
MIRT1928599	hsa-miR-549	CLIP-seq
MIRT1928600	hsa-miR-655	CLIP-seq
MIRT2443397	hsa-miR-767-5p	CLIP-seq
MIRT1928585	hsa-miR-193a-3p	CLIP-seq
MIRT1928586	hsa-miR-193b	CLIP-seq
MIRT1928587	hsa-miR-3117-5p	CLIP-seq
MIRT1928588	hsa-miR-3176	CLIP-seq
MIRT1928589	hsa-miR-345	CLIP-seq
MIRT1928591	hsa-miR-3922-3p	CLIP-seq
MIRT1928592	hsa-miR-4432	CLIP-seq
MIRT1928593	hsa-miR-4522	CLIP-seq
MIRT1928595	hsa-miR-4714-5p	CLIP-seq
MIRT1928598	hsa-miR-548u	CLIP-seq
MIRT1928599	hsa-miR-549	CLIP-seq
MIRT2443392	hsa-miR-1276	CLIP-seq
MIRT1928585	hsa-miR-193a-3p	CLIP-seq
MIRT1928586	hsa-miR-193b	CLIP-seq
MIRT2443393	hsa-miR-29a	CLIP-seq
MIRT2443394	hsa-miR-29b	CLIP-seq
MIRT2443395	hsa-miR-29c	CLIP-seq
MIRT2169355	hsa-miR-300	CLIP-seq
MIRT1928587	hsa-miR-3117-5p	CLIP-seq
MIRT2169356	hsa-miR-3127-3p	CLIP-seq
MIRT1928588	hsa-miR-3176	CLIP-seq
MIRT1928589	hsa-miR-345	CLIP-seq
MIRT2443396	hsa-miR-3663-3p	CLIP-seq
MIRT1928590	hsa-miR-374c	CLIP-seq
MIRT2169358	hsa-miR-381	CLIP-seq
MIRT1928591	hsa-miR-3922-3p	CLIP-seq
MIRT1928592	hsa-miR-4432	CLIP-seq
MIRT1928593	hsa-miR-4522	CLIP-seq
MIRT1928594	hsa-miR-4668-3p	CLIP-seq
MIRT1928595	hsa-miR-4714-5p	CLIP-seq
MIRT1928598	hsa-miR-548u	CLIP-seq
MIRT1928599	hsa-miR-549	CLIP-seq
MIRT1928600	hsa-miR-655	CLIP-seq
MIRT2443397	hsa-miR-767-5p	CLIP-seq
MIRT2443392	hsa-miR-1276	CLIP-seq
MIRT1928585	hsa-miR-193a-3p	CLIP-seq
MIRT1928586	hsa-miR-193b	CLIP-seq
MIRT2443393	hsa-miR-29a	CLIP-seq
MIRT2443394	hsa-miR-29b	CLIP-seq
MIRT2443395	hsa-miR-29c	CLIP-seq
MIRT2169355	hsa-miR-300	CLIP-seq
MIRT1928587	hsa-miR-3117-5p	CLIP-seq
MIRT2169356	hsa-miR-3127-3p	CLIP-seq
MIRT1928588	hsa-miR-3176	CLIP-seq
MIRT1928589	hsa-miR-345	CLIP-seq
MIRT2443396	hsa-miR-3663-3p	CLIP-seq
MIRT1928590	hsa-miR-374c	CLIP-seq
MIRT2169358	hsa-miR-381	CLIP-seq
MIRT1928591	hsa-miR-3922-3p	CLIP-seq
MIRT1928592	hsa-miR-4432	CLIP-seq
MIRT1928593	hsa-miR-4522	CLIP-seq
MIRT1928594	hsa-miR-4668-3p	CLIP-seq
MIRT1928595	hsa-miR-4714-5p	CLIP-seq
MIRT1928598	hsa-miR-548u	CLIP-seq
MIRT1928599	hsa-miR-549	CLIP-seq
MIRT1928600	hsa-miR-655	CLIP-seq
MIRT2443397	hsa-miR-767-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 18695251, 19060904, 21044950, 21285945, 21516116, 21536907, 21900206, 21988832, 22190034, 23159739, 24212136, 24312579, 25416956, 26496610, 26871637, 27107012, 28514442, 29892012, 29997244, 31116475, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	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:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IBA	21873635
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IDA	19131329
GO:0031398	Process	Positive regulation of protein ubiquitination	IEA
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0060510	Process	Type II pneumocyte differentiation	IEA
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:1901216	Process	Positive regulation of neuron death	IEA
GO:1903632	Process	Positive regulation of aminoacyl-tRNA ligase activity	IBA	21873635

Other IDs

• MIM: 600859
• HGNC: 20609
• e!Ensembl: ENSG00000106305

Protein

• UniProt ID: Q13155
• Protein name: Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 (Multisynthase complex auxiliary component p38) (Protein JTV-1)
• Protein function: Required for assembly and stability of the aminoacyl-tRNA synthase complex (PubMed:19131329). Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down-regulation which is required for aveolar type
• PDB: 4DPG, 4YCU, 4YCW, 5A1N, 5A34, 5A5H, 5Y6L, 6ILD, 6IY6, 6JPV, 6K39, 8J9S, 9DPL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16780	AIMP2_LysRS_bd	1 → 49	AIMP2 lysyl-tRNA synthetase binding domain	Domain
  PF18569	Thioredoxin_16	117 → 208	Thioredoxin-like domain	Domain
  PF00043	GST_C	235 → 309	Glutathione S-transferase, C-terminal domain	Domain

• Sequence:

  MPMYQVKPYHGGGAPLRVELPTCMYRLPNVHGRSYGPAPGAGHVQEESNLSLQALESRQD
  DILKRLYELKAAVDGLSKMIQTPDADLDVTNIIQADEPTTLTTNALDLNSVLGKDYGALK
  DIVINANPASPPLSLLVLHRLLCEHFRVLSTVHTHSSVKSVPENLLKCFGEQNKKQPRQD
  YQLGFTLIWKNVPKTQMKFSIQTMCPIEGEGNIARFLFSLFGQKHNAVNATLIDSWVDIA
  IFQLKEGSSKEKAAVFRSMNSALGKSPWLAGNELTVADVVLWSVLQQIGGCSVTVPANVQ
  RWMRSCENLAPFNTALKLLK

• Sequence length: 320

Pathways

Reactome:

Cytosolic tRNA aminoacylation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Epileptic encephalopathy	Epileptic encephalopathy	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325	26795593
Hypomyelinating leukodystrophy	LEUKODYSTROPHY, HYPOMYELINATING, 17	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	29215095, 26795593
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
West syndrome	West Syndrome	rs267606715, rs267608421, rs727503974, rs786205598, rs794727152, rs796053134, rs796053162, rs1057517854, rs267608618, rs1555952078, rs1555954752, rs749975104	26795593

Unknown
Disease name	Disease term	dbSNP ID	References
Acquired kyphoscoliosis	Acquired Kyphoscoliosis
Cerebellar atrophy	Cerebellar atrophy
Cerebral atrophy	Cerebral atrophy
Congenital kyphoscoliosis	Congenital kyphoscoliosis
Dwarfism	Dwarfism
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Malocclusion	Class III malocclusion