TOMM40 (translocase of outer mitochondrial membrane 40)

Gene

• Entrez ID: 10452
• Gene name: Translocase of outer mitochondrial membrane 40
• Gene symbol: TOMM40
• Synonyms: C19orf1, D19S1177E, PER-EC1, PEREC1, TOM40
• Chromosome: 19
• Chromosome location: 19q13.32
• Summary: The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitocho

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025243	hsa-miR-34a-5p	Proteomics	21566225
MIRT025243	hsa-miR-34a-5p	Proteomics	21566225
MIRT025243	hsa-miR-34a-5p	Proteomics	21566225
MIRT025243	hsa-miR-34a-5p	Proteomics	21566225
MIRT042816	hsa-miR-324-3p	CLASH	23622248
MIRT042204	hsa-miR-484	CLASH	23622248
MIRT040094	hsa-miR-615-3p	CLASH	23622248
MIRT640238	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT640237	hsa-miR-8073	HITS-CLIP	23824327
MIRT640236	hsa-miR-1306-3p	HITS-CLIP	23824327
MIRT640235	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT640234	hsa-miR-5695	HITS-CLIP	23824327
MIRT640233	hsa-miR-3176	HITS-CLIP	23824327
MIRT640232	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT640231	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT640230	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT640229	hsa-miR-6131	HITS-CLIP	23824327
MIRT640228	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT640227	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT640226	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT640225	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT640224	hsa-miR-548s	HITS-CLIP	23824327
MIRT640223	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT640222	hsa-miR-588	HITS-CLIP	23824327
MIRT640221	hsa-miR-4435	HITS-CLIP	23824327
MIRT640220	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT640219	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT640218	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT640217	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT568688	hsa-miR-4453	PAR-CLIP	20371350
MIRT568687	hsa-miR-4538	PAR-CLIP	20371350
MIRT568686	hsa-miR-1245b-3p	PAR-CLIP	20371350
MIRT568685	hsa-miR-3136-3p	PAR-CLIP	20371350
MIRT568684	hsa-miR-7155-3p	PAR-CLIP	20371350
MIRT568683	hsa-miR-328-3p	PAR-CLIP	20371350
MIRT568688	hsa-miR-4453	PAR-CLIP	20371350
MIRT568687	hsa-miR-4538	PAR-CLIP	20371350
MIRT568686	hsa-miR-1245b-3p	PAR-CLIP	20371350
MIRT568685	hsa-miR-3136-3p	PAR-CLIP	20371350
MIRT568684	hsa-miR-7155-3p	PAR-CLIP	20371350
MIRT568683	hsa-miR-328-3p	PAR-CLIP	20371350
MIRT640238	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT640237	hsa-miR-8073	HITS-CLIP	23824327
MIRT640236	hsa-miR-1306-3p	HITS-CLIP	23824327
MIRT640235	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT640234	hsa-miR-5695	HITS-CLIP	23824327
MIRT640233	hsa-miR-3176	HITS-CLIP	23824327
MIRT640232	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT640231	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT640230	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT640229	hsa-miR-6131	HITS-CLIP	23824327
MIRT640228	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT640227	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT640226	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT640225	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT640224	hsa-miR-548s	HITS-CLIP	23824327
MIRT640223	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT640222	hsa-miR-588	HITS-CLIP	23824327
MIRT640221	hsa-miR-4435	HITS-CLIP	23824327
MIRT640220	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT640219	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT640218	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT640217	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT568688	hsa-miR-4453	PAR-CLIP	20371350
MIRT568687	hsa-miR-4538	PAR-CLIP	20371350
MIRT568686	hsa-miR-1245b-3p	PAR-CLIP	20371350
MIRT568685	hsa-miR-3136-3p	PAR-CLIP	20371350
MIRT568684	hsa-miR-7155-3p	PAR-CLIP	20371350
MIRT568683	hsa-miR-328-3p	PAR-CLIP	20371350
MIRT568688	hsa-miR-4453	PAR-CLIP	20371350
MIRT568687	hsa-miR-4538	PAR-CLIP	20371350
MIRT568686	hsa-miR-1245b-3p	PAR-CLIP	20371350
MIRT568685	hsa-miR-3136-3p	PAR-CLIP	20371350
MIRT568684	hsa-miR-7155-3p	PAR-CLIP	20371350
MIRT568683	hsa-miR-328-3p	PAR-CLIP	20371350
MIRT1446688	hsa-miR-1207-5p	CLIP-seq
MIRT1446689	hsa-miR-1909	CLIP-seq
MIRT1446690	hsa-miR-3688-5p	CLIP-seq
MIRT1446691	hsa-miR-3689d	CLIP-seq
MIRT1446692	hsa-miR-4716-3p	CLIP-seq
MIRT1446693	hsa-miR-4723-5p	CLIP-seq
MIRT1446694	hsa-miR-4736	CLIP-seq
MIRT1446695	hsa-miR-4763-3p	CLIP-seq
MIRT1446688	hsa-miR-1207-5p	CLIP-seq
MIRT1446689	hsa-miR-1909	CLIP-seq
MIRT1446696	hsa-miR-24	CLIP-seq
MIRT1446690	hsa-miR-3688-5p	CLIP-seq
MIRT1446691	hsa-miR-3689d	CLIP-seq
MIRT1446697	hsa-miR-4283	CLIP-seq
MIRT1446692	hsa-miR-4716-3p	CLIP-seq
MIRT1446693	hsa-miR-4723-5p	CLIP-seq
MIRT1446694	hsa-miR-4736	CLIP-seq
MIRT1446695	hsa-miR-4763-3p	CLIP-seq
MIRT1555124	hsa-miR-4728-5p	CLIP-seq
MIRT2133582	hsa-miR-129-5p	CLIP-seq
MIRT2133583	hsa-miR-3662	CLIP-seq
MIRT2133582	hsa-miR-129-5p	CLIP-seq
MIRT2133584	hsa-miR-340	CLIP-seq
MIRT2133585	hsa-miR-3607-3p	CLIP-seq
MIRT2133583	hsa-miR-3662	CLIP-seq
MIRT2133586	hsa-miR-3686	CLIP-seq
MIRT1446691	hsa-miR-3689d	CLIP-seq
MIRT2133587	hsa-miR-4449	CLIP-seq
MIRT2133588	hsa-miR-4652-3p	CLIP-seq
MIRT2133589	hsa-miR-4783-3p	CLIP-seq
MIRT2133590	hsa-miR-587	CLIP-seq
MIRT2133591	hsa-miR-671-3p	CLIP-seq
MIRT2648547	hsa-miR-1913	CLIP-seq
MIRT2648548	hsa-miR-2110	CLIP-seq
MIRT2648549	hsa-miR-2392	CLIP-seq
MIRT2648550	hsa-miR-3144-5p	CLIP-seq
MIRT2648551	hsa-miR-3180	CLIP-seq
MIRT2648552	hsa-miR-3180-3p	CLIP-seq
MIRT2648553	hsa-miR-3183	CLIP-seq
MIRT2648554	hsa-miR-3191	CLIP-seq
MIRT2648555	hsa-miR-3196	CLIP-seq
MIRT2648556	hsa-miR-3605-5p	CLIP-seq
MIRT2648557	hsa-miR-4268	CLIP-seq
MIRT2648558	hsa-miR-4271	CLIP-seq
MIRT2648559	hsa-miR-4313	CLIP-seq
MIRT2648560	hsa-miR-4443	CLIP-seq
MIRT2648561	hsa-miR-4508	CLIP-seq
MIRT2648562	hsa-miR-4652-5p	CLIP-seq
MIRT2648563	hsa-miR-4655-5p	CLIP-seq
MIRT2648564	hsa-miR-4723-3p	CLIP-seq
MIRT2648565	hsa-miR-4725-3p	CLIP-seq
MIRT2648566	hsa-miR-542-5p	CLIP-seq
MIRT2648567	hsa-miR-639	CLIP-seq
MIRT2648568	hsa-miR-720	CLIP-seq
MIRT2648569	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27554484, 31206022
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IMP	11745481
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005742	Component	Mitochondrial outer membrane translocase complex	IBA	21873635
GO:0005742	Component	Mitochondrial outer membrane translocase complex	IDA	12198123, 15644312
GO:0005743	Component	Mitochondrial inner membrane	IDA	24746669
GO:0005829	Component	Cytosol	IDA
GO:0006626	Process	Protein targeting to mitochondrion	IGI	31206022
GO:0006626	Process	Protein targeting to mitochondrion	IMP	15644312
GO:0006626	Process	Protein targeting to mitochondrion	ISS
GO:0008320	Function	Protein transmembrane transporter activity	IBA	21873635
GO:0008320	Function	Protein transmembrane transporter activity	ISS
GO:0008320	Function	Protein transmembrane transporter activity	TAS	15644312
GO:0015288	Function	Porin activity	IEA
GO:0016021	Component	Integral component of membrane	IDA	15644312
GO:0016236	Process	Macroautophagy	TAS
GO:0030150	Process	Protein import into mitochondrial matrix	IBA	21873635
GO:0031307	Component	Integral component of mitochondrial outer membrane	ISS	10980201
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane	IDA	31206022
GO:0046930	Component	Pore complex	IEA

Other IDs

• MIM: 608061
• HGNC: 18001
• e!Ensembl: ENSG00000130204

Protein

• UniProt ID: O96008
• Protein name: Mitochondrial import receptor subunit TOM40 homolog (Protein Haymaker) (Translocase of outer membrane 40 kDa subunit homolog) (p38.5)
• Protein function: Channel-forming protein essential for import of protein precursors into mitochondria (PubMed:15644312, PubMed:31206022). Plays a role in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) by forming a com
• PDB: 7CK6, 7CP9, 7VBY, 7VC4, 7VD2, 7VDD, 8XVA, 9EIH, 9EII, 9EIJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01459	Porin_3	79 → 355	Eukaryotic porin	Family

• Sequence:

  MGNVLAASSPPAGPPPPPAPALVGLPPPPPSPPGFTLPPLGGSLGAGTSTSRSSERTPGA
  ATASASGAAEDGACGCLPNPGTFEECHRKCKELFPIQMEGVKLTVNKGLSNHFQVNHTVA
  LSTIGESNYHFGVTYVGTKQLSPTEAFPVLVGDMDNSGSLNAQVIHQLGPGLRSKMAIQT
  QQSKFVNWQVDGEYRGSDFTAAVTLGNPDVLVGSGILVAHYLQSITPCLALGGELVYHRR
  PGEEGTVMSLAGKYTLNNWLATVTLGQAGMHATYYHKASDQLQVGVEFEASTRMQDTSVS
  FGYQLDLPKANLLFKGSVDSNWIVGATLEKKLPPLPLTLALGAFLNHRKNKFQCGFGLTI
  G

• Sequence length: 361

Pathways

KEGG:

Mitophagy - animal
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases

Reactome:

Pink/Parkin Mediated Mitophagy

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Alzheimer disease	Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset, Early-onset autosomal dominant Alzheimer disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	23234877, 30320580, 29107063, 30319691, 27023435, 30319691, 27023435, 29107063, 30320580, 30320580, 30319691, 29107063, 27023435, 23565137, 19136949, 20061627, 22005930, 20885792, 30636644, 20460622, 19125160, 30319691, 30805717, 24755620, 24770881, 21460841, 22832961, 26339675, 23419831, 19734903, 21098978, 21379329, 30320580, 27023435, 29777097, 19734902, 22005931, 26993346, 30617256, 21627779, 29107063, 21123754, 30319691, 29107063, 27023435, 30320580
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	23103227
Coronary artery disease	CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1, Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	23202125
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	27602772
Age-related macular degeneration	Age related macular degeneration	rs2133900556, rs199474657, rs2274700, rs1410996, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475	23326517, 22694956
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
Metabolic syndrome	Metabolic Syndrome X	rs367643250, rs587777380, rs777736953	22399527
Parkinson disease	Parkinsonian Disorders	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106

Unknown
Disease name	Disease term	dbSNP ID	References
Aphasia	Aphasia
Cerebral cortical atrophy	Cerebral cortical atrophy
Coronary heart disease	Coronary heart disease	rs9289231, rs281864746	21347282, 21966275
Dysgraphia	Dysgraphia
Dyslipidemias	Dyslipidemias		29670124
Hallucinations	Hallucinations
Language disorders	Language Disorders
Mental depression	Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	24549102
Oculomotor apraxia	Oculomotor apraxia
Oculovestibuloauditory syndrome	Oculovestibuloauditory syndrome
Posterior cortical atrophy	Posterior cortical atrophy syndrome		26993346
Semantic dementia	Semantic Dementia
Senile dementia	Presenile dementia, Acute Confusional Senile Dementia		29107063, 30320580, 30319691, 27023435
Transient psychotic disorder	Acute transient psychotic disorder		22005930