MAOA (monoamine oxidase A)

Gene

• Entrez ID: 4128
• Gene name: Monoamine oxidase A
• Gene symbol: MAOA
• Synonyms: BRNRS, MAO-A
• Chromosome: X
• Chromosome location: Xp11.3
• Summary: This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs72554632	C>T	Pathogenic	Coding sequence variant, stop gained
rs138703731	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs587777457	G>T	Pathogenic	Missense variant, coding sequence variant
rs796065311	->T	Pathogenic	Frameshift variant, coding sequence variant
rs796065312	C>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1135401773	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555951288	A>G	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005902	hsa-miR-22-3p	Luciferase reporter assay, Microarray	21168126
MIRT1127569	hsa-miR-1202	CLIP-seq
MIRT1127570	hsa-miR-1255a	CLIP-seq
MIRT1127571	hsa-miR-1255b	CLIP-seq
MIRT1127572	hsa-miR-197	CLIP-seq
MIRT1127573	hsa-miR-21	CLIP-seq
MIRT1127574	hsa-miR-28-3p	CLIP-seq
MIRT1127575	hsa-miR-3123	CLIP-seq
MIRT1127576	hsa-miR-3125	CLIP-seq
MIRT1127577	hsa-miR-3126-5p	CLIP-seq
MIRT1127578	hsa-miR-3148	CLIP-seq
MIRT1127579	hsa-miR-3169	CLIP-seq
MIRT1127580	hsa-miR-330-3p	CLIP-seq
MIRT1127581	hsa-miR-3545-5p	CLIP-seq
MIRT1127582	hsa-miR-3611	CLIP-seq
MIRT1127583	hsa-miR-3614-3p	CLIP-seq
MIRT1127584	hsa-miR-3616-5p	CLIP-seq
MIRT1127585	hsa-miR-3647-5p	CLIP-seq
MIRT1127586	hsa-miR-3650	CLIP-seq
MIRT1127587	hsa-miR-3653	CLIP-seq
MIRT1127588	hsa-miR-3658	CLIP-seq
MIRT1127589	hsa-miR-3663-3p	CLIP-seq
MIRT1127590	hsa-miR-3672	CLIP-seq
MIRT1127591	hsa-miR-3681	CLIP-seq
MIRT1127592	hsa-miR-3691-5p	CLIP-seq
MIRT1127593	hsa-miR-371-5p	CLIP-seq
MIRT1127594	hsa-miR-371b-5p	CLIP-seq
MIRT1127595	hsa-miR-3916	CLIP-seq
MIRT1127596	hsa-miR-3919	CLIP-seq
MIRT1127597	hsa-miR-3920	CLIP-seq
MIRT1127598	hsa-miR-3925-5p	CLIP-seq
MIRT1127599	hsa-miR-3972	CLIP-seq
MIRT1127600	hsa-miR-4310	CLIP-seq
MIRT1127601	hsa-miR-4317	CLIP-seq
MIRT1127602	hsa-miR-4423-5p	CLIP-seq
MIRT1127603	hsa-miR-4424	CLIP-seq
MIRT1127604	hsa-miR-4433	CLIP-seq
MIRT1127605	hsa-miR-4436a	CLIP-seq
MIRT1127606	hsa-miR-4459	CLIP-seq
MIRT1127607	hsa-miR-4468	CLIP-seq
MIRT1127608	hsa-miR-4470	CLIP-seq
MIRT1127609	hsa-miR-4475	CLIP-seq
MIRT1127610	hsa-miR-4502	CLIP-seq
MIRT1127611	hsa-miR-4511	CLIP-seq
MIRT1127612	hsa-miR-452	CLIP-seq
MIRT1127613	hsa-miR-4645-3p	CLIP-seq
MIRT1127614	hsa-miR-4676-3p	CLIP-seq
MIRT1127615	hsa-miR-4682	CLIP-seq
MIRT1127616	hsa-miR-4693-5p	CLIP-seq
MIRT1127617	hsa-miR-4740-5p	CLIP-seq
MIRT1127618	hsa-miR-4756-3p	CLIP-seq
MIRT1127619	hsa-miR-4762-3p	CLIP-seq
MIRT1127620	hsa-miR-4766-3p	CLIP-seq
MIRT1127621	hsa-miR-4768-3p	CLIP-seq
MIRT1127622	hsa-miR-4773	CLIP-seq
MIRT1127623	hsa-miR-4774-3p	CLIP-seq
MIRT1127624	hsa-miR-4795-5p	CLIP-seq
MIRT1127625	hsa-miR-486-3p	CLIP-seq
MIRT1127626	hsa-miR-499-3p	CLIP-seq
MIRT1127627	hsa-miR-499a-3p	CLIP-seq
MIRT1127628	hsa-miR-512-5p	CLIP-seq
MIRT1127629	hsa-miR-513c	CLIP-seq
MIRT1127630	hsa-miR-514b-5p	CLIP-seq
MIRT1127631	hsa-miR-518d-5p	CLIP-seq
MIRT1127632	hsa-miR-519b-5p	CLIP-seq
MIRT1127633	hsa-miR-519c-5p	CLIP-seq
MIRT1127634	hsa-miR-520c-5p	CLIP-seq
MIRT1127635	hsa-miR-526a	CLIP-seq
MIRT1127636	hsa-miR-532-5p	CLIP-seq
MIRT1127637	hsa-miR-548b-3p	CLIP-seq
MIRT1127638	hsa-miR-548p	CLIP-seq
MIRT1127639	hsa-miR-573	CLIP-seq
MIRT1127640	hsa-miR-576-3p	CLIP-seq
MIRT1127641	hsa-miR-584	CLIP-seq
MIRT1127642	hsa-miR-590-5p	CLIP-seq
MIRT1127643	hsa-miR-592	CLIP-seq
MIRT1127644	hsa-miR-597	CLIP-seq
MIRT1127645	hsa-miR-621	CLIP-seq
MIRT1920607	hsa-miR-450b-5p	CLIP-seq
MIRT1127619	hsa-miR-4762-3p	CLIP-seq
MIRT1920608	hsa-miR-4766-5p	CLIP-seq
MIRT1920609	hsa-miR-507	CLIP-seq
MIRT1920610	hsa-miR-557	CLIP-seq
MIRT1920607	hsa-miR-450b-5p	CLIP-seq
MIRT1127619	hsa-miR-4762-3p	CLIP-seq
MIRT1920608	hsa-miR-4766-5p	CLIP-seq
MIRT1920609	hsa-miR-507	CLIP-seq
MIRT1920610	hsa-miR-557	CLIP-seq
MIRT1920607	hsa-miR-450b-5p	CLIP-seq
MIRT1127619	hsa-miR-4762-3p	CLIP-seq
MIRT1920608	hsa-miR-4766-5p	CLIP-seq
MIRT1920609	hsa-miR-507	CLIP-seq
MIRT1920610	hsa-miR-557	CLIP-seq
MIRT2036154	hsa-miR-1200	CLIP-seq
MIRT2036155	hsa-miR-1228	CLIP-seq
MIRT2036156	hsa-miR-1305	CLIP-seq
MIRT2036157	hsa-miR-1324	CLIP-seq
MIRT2036158	hsa-miR-1827	CLIP-seq
MIRT2036159	hsa-miR-3136-3p	CLIP-seq
MIRT2036160	hsa-miR-3145-5p	CLIP-seq
MIRT2036161	hsa-miR-3622b-5p	CLIP-seq
MIRT1127587	hsa-miR-3653	CLIP-seq
MIRT2036162	hsa-miR-380	CLIP-seq
MIRT2036163	hsa-miR-382	CLIP-seq
MIRT2036164	hsa-miR-421	CLIP-seq
MIRT2036165	hsa-miR-425	CLIP-seq
MIRT2036166	hsa-miR-4324	CLIP-seq
MIRT2036167	hsa-miR-4423-3p	CLIP-seq
MIRT2036168	hsa-miR-4426	CLIP-seq
MIRT1127604	hsa-miR-4433	CLIP-seq
MIRT1127606	hsa-miR-4459	CLIP-seq
MIRT1127608	hsa-miR-4470	CLIP-seq
MIRT2036169	hsa-miR-4495	CLIP-seq
MIRT2036170	hsa-miR-4639-5p	CLIP-seq
MIRT2036171	hsa-miR-4647	CLIP-seq
MIRT2036172	hsa-miR-4649-3p	CLIP-seq
MIRT2036173	hsa-miR-4662b	CLIP-seq
MIRT2036174	hsa-miR-4691-5p	CLIP-seq
MIRT2036175	hsa-miR-4712-5p	CLIP-seq
MIRT2036176	hsa-miR-4733-3p	CLIP-seq
MIRT1127621	hsa-miR-4768-3p	CLIP-seq
MIRT2036177	hsa-miR-4802-3p	CLIP-seq
MIRT2036178	hsa-miR-491-3p	CLIP-seq
MIRT2036179	hsa-miR-508-5p	CLIP-seq
MIRT2036180	hsa-miR-513b	CLIP-seq
MIRT2036181	hsa-miR-543	CLIP-seq
MIRT2036182	hsa-miR-544b	CLIP-seq
MIRT2036183	hsa-miR-605	CLIP-seq
MIRT2036184	hsa-miR-770-5p	CLIP-seq
MIRT2036185	hsa-miR-922	CLIP-seq
MIRT2036154	hsa-miR-1200	CLIP-seq
MIRT2266483	hsa-miR-3074-5p	CLIP-seq
MIRT2266484	hsa-miR-4796-3p	CLIP-seq
MIRT2266485	hsa-miR-520g	CLIP-seq
MIRT2266486	hsa-miR-520h	CLIP-seq
MIRT2266487	hsa-miR-640	CLIP-seq
MIRT1127593	hsa-miR-371-5p	CLIP-seq
MIRT1127594	hsa-miR-371b-5p	CLIP-seq
MIRT1127629	hsa-miR-513c	CLIP-seq
MIRT1127630	hsa-miR-514b-5p	CLIP-seq
MIRT2565872	hsa-miR-1253	CLIP-seq
MIRT2565873	hsa-miR-22	CLIP-seq
MIRT2565874	hsa-miR-4271	CLIP-seq
MIRT2565875	hsa-miR-4297	CLIP-seq
MIRT2565876	hsa-miR-4685-5p	CLIP-seq
MIRT2565877	hsa-miR-4716-3p	CLIP-seq
MIRT2565878	hsa-miR-4725-3p	CLIP-seq
MIRT2565879	hsa-miR-625	CLIP-seq
MIRT2565872	hsa-miR-1253	CLIP-seq
MIRT2565873	hsa-miR-22	CLIP-seq
MIRT2565874	hsa-miR-4271	CLIP-seq
MIRT2565875	hsa-miR-4297	CLIP-seq
MIRT2565876	hsa-miR-4685-5p	CLIP-seq
MIRT2565877	hsa-miR-4716-3p	CLIP-seq
MIRT2565878	hsa-miR-4725-3p	CLIP-seq
MIRT2565879	hsa-miR-625	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NHLH2	Activation	22169038
NR3C1	Unknown	16728402

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 30021884
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IDA
GO:0005741	Component	Mitochondrial outer membrane	TAS	24252804
GO:0005829	Component	Cytosol	IDA
GO:0006576	Process	Cellular biogenic amine metabolic process	TAS	8211186
GO:0008131	Function	Primary amine oxidase activity	IEA
GO:0009967	Process	Positive regulation of signal transduction	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0042133	Process	Neurotransmitter metabolic process	TAS
GO:0042135	Process	Neurotransmitter catabolic process	IEA
GO:0042420	Process	Dopamine catabolic process	TAS	24252804

Other IDs

• MIM: 309850
• HGNC: 6833
• e!Ensembl: ENSG00000189221

Protein

• UniProt ID: P21397
• Protein name: Amine oxidase [flavin-containing] A (EC 1.4.3.21) (EC 1.4.3.4) (Monoamine oxidase type A) (MAO-A)
• Protein function: Catalyzes the oxidative deamination of primary and some secondary amine such as neurotransmitters, with concomitant reduction of oxygen to hydrogen peroxide and has important functions in the metabolism of neuroactive and vasoactive amines in th
• PDB: 2BXR, 2BXS, 2Z5X, 2Z5Y
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01593	Amino_oxidase	23 → 460	Flavin containing amine oxidoreductase	Domain

• Sequence:

  MENQEKASIAGHMFDVVVIGGGISGLSAAKLLTEYGVSVLVLEARDRVGGRTYTIRNEHV
  DYVDVGGAYVGPTQNRILRLSKELGIETYKVNVSERLVQYVKGKTYPFRGAFPPVWNPIA
  YLDYNNLWRTIDNMGKEIPTDAPWEAQHADKWDKMTMKELIDKICWTKTARRFAYLFVNI
  NVTSEPHEVSALWFLWYVKQCGGTTRIFSVTNGGQERKFVGGSGQVSERIMDLLGDQVKL
  NHPVTHVDQSSDNIIIETLNHEHYECKYVINAIPPTLTAKIHFRPELPAERNQLIQRLPM
  GAVIKCMMYYKEAFWKKKDYCGCMIIEDEDAPISITLDDTKPDGSLPAIMGFILARKADR
  LAKLHKEIRKKKICELYAKVLGSQEALHPVHYEEKNWCEEQYSGGCYTAYFPPGIMTQYG
  RVIRQPVGRIFFAGTETATKWSGYMEGAVEAGERAAREVLNGLGKVTEKDIWVQEPESKD
  VPAVEITHTFWERNLPSVSGLLKIIGFSTSVTALGFVLYKYKLLPRS

• Sequence length: 527

Pathways

KEGG:

Glycine, serine and threonine metabolism
Arginine and proline metabolism
Histidine metabolism
Tyrosine metabolism
Phenylalanine metabolism
Tryptophan metabolism
Drug metabolism - cytochrome P450
Metabolic pathways
Serotonergic synapse
Dopaminergic synapse
Parkinson disease
Cocaine addiction
Amphetamine addiction
Alcoholism

Reactome:

Biogenic amines are oxidatively deaminated to aldehydes by MAOA and MAOB
Norepinephrine Neurotransmitter Release Cycle
Enzymatic degradation of dopamine by COMT
Enzymatic degradation of Dopamine by monoamine oxidase
Metabolism of serotonin
Defective MAOA causes Brunner syndrome (BRUNS)
Interleukin-4 and Interleukin-13 signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	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	20573161, 12919132, 18361446
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Brugada syndrome	Brunner Syndrome	rs104894718, rs397514252, rs397514446, rs137854613, rs137854601, rs397514449, rs137854604, rs28937318, rs137854611, rs137854612, rs137854615, rs137854618, rs137854620, rs72554632, rs121912776, rs199473282, rs16969925, rs199473096, rs199473565, rs199473097, rs199473566, rs199473101, rs199473153, rs199473584, rs199473168, rs199473587, rs199473170, rs199473172, rs199473175, rs199473055, rs199473556, rs199473058, rs199473225, rs199473613, rs199473271, rs199473062, rs199473623, rs199473304, rs199473305, rs199473629, rs199473072, rs199473083, rs483353016, rs587777457, rs587777742, rs727505158, rs727503411, rs730880210, rs786204839, rs786205830, rs138450474, rs794727487, rs794727637, rs794728924, rs749697698, rs794728918, rs794728917, rs794728914, rs397514450, rs794728912, rs794728906, rs794728849, rs794728843, rs794728846, rs796065312, rs796065311, rs863225273, rs869025522, rs869025520, rs777689378, rs886037903, rs754221948, rs199473284, rs886039072, rs1057519275, rs1060501130, rs759924541, rs1060501136, rs1060500103, rs1064794424, rs756159737, rs1135401773, rs1553695282, rs1553605932, rs1555475434, rs1553695764, rs1553700699, rs1553705586, rs1417036453, rs1204915217, rs761505217, rs1559727990, rs1559414131, rs755356387, rs1559729142, rs587781159, rs1559738598, rs1553699766, rs1237724419, rs1060500107, rs1575719863, rs1480085793, rs1575706847, rs199473620, rs1575751854, rs1207394743, rs1369632373, rs2061229370, rs2061654524, rs1274495820, rs2064222084, rs2064208734	8211186, 25807999, 27830117, 24169519
Liver failure	Chronic Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682	15025246
Mental retardation	Mental Retardation, X-Linked, 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	8503438
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338	15946989
Parkinson disease	Parkinson Disease	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	17449559
Pheochromocytoma	Pheochromocytoma	rs121908826, rs121908830, rs121908821, rs5030821, rs5030820, rs104893826, rs5030808, rs587776644, rs80338844, rs104894306, rs104894309, rs75076352, rs75996173, rs77709286, rs74799832, rs387906651, rs121908813, rs121908822, rs121908814, rs121908825, rs121908827, rs121908829, rs121908831, rs121908815, rs587781773, rs786203251, rs786202100, rs864321636, rs864321638, rs864321639, rs864321643, rs864321641, rs864321642, rs864321640, rs864321644, rs876659130, rs876658477, rs878854594, rs886039439, rs886041237, rs121908816, rs1131691061, rs760169139, rs780133289, rs1558752379	22569243
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	25073638, 24510409

Unknown
Disease name	Disease term	dbSNP ID	References
Akinetic-rigid variant of huntington disease	Akinetic-Rigid Variant of Huntington Disease		21075085
Antisocial personality disorder	Antisocial Personality Disorder		8503438, 12161658, 18212819
Behavior disorders	Behavior Disorders	rs28914832, rs748194758, rs7224199, rs3813034, rs886052778, rs199601052, rs200528841, rs138004662, rs140699, rs886052781, rs6354, rs886052782, rs199876421, rs56138846, rs200506079, rs886052774, rs185569563, rs886052777, rs181130006, rs200363238, rs567262768, rs201053633, rs200633071, rs56110451, rs114814153, rs28914831, rs45541837, rs25533, rs886052784, rs201844395, rs746067804, rs56140935, rs185658988, rs886052775, rs886052776, rs55823902, rs1042173, rs886052779, rs6352, rs6353, rs200861334, rs55908624, rs886052780, rs201073368, rs34845320, rs199890541, rs763069645, rs202111661, rs886052783, rs74845752, rs41274284	22340208
Bipolar disorder	Bipolar Disorder, Depression, Bipolar		21438144, 18437281, 18504633, 23044341, 20010318, 23512949
Cognitive disorder	Cognition Disorders		24402517
Disorder of fetal nutrition	Fetal Nutrition Disorders		22340208
Dysthymic disorder	Dysthymic Disorder		22030358
End stage liver disease	End Stage Liver Disease		15025246
Endometrioma	Endometrioma		21063030
Endometriosis	Endometriosis	rs1800629, rs1143634	21063030
Extra-adrenal pheochromocytoma	Pheochromocytoma, Extra-Adrenal		22569243
Fulminant hepatic failure with cerebral edema	Fulminant Hepatic Failure with Cerebral Edema		10564534, 10206825, 9048767
Hepatic coma	Hepatic Coma		10564534, 9048767, 10206825
Hepatic encephalopathy	Hepatic Encephalopathy		10206825, 10564534, 9048767
Hepatic stupor	Hepatic Stupor		10206825, 10564534, 9048767
Huntington disease	Huntington Disease, Huntington Disease, Late Onset, Juvenile Huntington Disease	rs768047421	21075085
Impaired cognition	Impaired cognition
Mental disorders	Mental disorders, Mental Disorders, Severe		22340208
Mental depression	Mental Depression, Depressive disorder, Unipolar Depression, Major Depressive Disorder, clinical depression	rs587778876, rs587778877	24314147, 23512949, 25623016, 24652311, 25152370, 23512949, 25152370, 24314147, 24652311, 25623016, 23157339, 23221997, 22030358, 21654740, 24809685, 23157339, 22030358, 23221997, 21654740, 24809685, 22045496, 21373759
Mental depression with psychotic features	Severe major depression with psychotic features		23512949, 23221997
Brunner syndrome	Monoamine oxidase A deficiency
Mood disorder	Mood Disorders		20374544, 21438144, 20010318, 25547397, 19224413
Poor fetal nutrition	Fetal Malnutrition		22340208
Psychosis	Psychotic Disorders		25073638