GRIA3 (glutamate ionotropic receptor AMPA type subunit 3)

Gene

• Entrez ID: 2892
• Gene name: Glutamate ionotropic receptor AMPA type subunit 3
• Gene symbol: GRIA3
• Synonyms (NCBI Gene): GLUR-C, GLUR-K3, GLUR3, GLURC, GluA3, MRX94, MRXSW, iGluR3
• Disease Acronyms (UniProt): MRXSW
• Chromosome: X
• Chromosome location: Xq25
• Summary: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arra

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852350	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs137852351	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs137852352	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs139990565	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained, genic downstream transcript variant
rs146022384	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs587777361	G>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs780680047	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, intron variant
rs1057521721	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057521729	G>A	Likely-pathogenic, not-provided	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1135401788	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1556317780	G>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1556317797	GCCTCAGAA>-	Likely-pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT437344	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR	23595422
MIRT437344	hsa-miR-124-3p	Luciferase reporter assay	27013590
MIRT755844	hsa-miR-212-5p	Luciferase reporter assay, Western blotting, qRT-PCR	34652536
MIRT1034177	hsa-miR-1208	CLIP-seq
MIRT1034178	hsa-miR-129-5p	CLIP-seq
MIRT1034179	hsa-miR-203	CLIP-seq
MIRT1034180	hsa-miR-214	CLIP-seq
MIRT1034181	hsa-miR-34b	CLIP-seq
MIRT1034182	hsa-miR-3619-5p	CLIP-seq
MIRT1034183	hsa-miR-3663-5p	CLIP-seq
MIRT1034184	hsa-miR-375	CLIP-seq
MIRT1034185	hsa-miR-3919	CLIP-seq
MIRT1034186	hsa-miR-4291	CLIP-seq
MIRT1034187	hsa-miR-498	CLIP-seq
MIRT1034188	hsa-miR-539	CLIP-seq
MIRT1034189	hsa-miR-761	CLIP-seq
MIRT1034190	hsa-miR-922	CLIP-seq
MIRT2239130	hsa-miR-3148	CLIP-seq
MIRT2239131	hsa-miR-451b	CLIP-seq
MIRT2239132	hsa-miR-548c-3p	CLIP-seq
MIRT2239133	hsa-miR-2467-5p	CLIP-seq
MIRT2239134	hsa-miR-3188	CLIP-seq
MIRT2239135	hsa-miR-3975	CLIP-seq
MIRT2239136	hsa-miR-485-5p	CLIP-seq
MIRT2450759	hsa-miR-135a	CLIP-seq
MIRT2450760	hsa-miR-135b	CLIP-seq
MIRT2450761	hsa-miR-219-2-3p	CLIP-seq
MIRT2450762	hsa-miR-2964a-3p	CLIP-seq
MIRT2450763	hsa-miR-3119	CLIP-seq
MIRT2450764	hsa-miR-3140-3p	CLIP-seq
MIRT2450765	hsa-miR-4452	CLIP-seq
MIRT2450766	hsa-miR-653	CLIP-seq
MIRT2543045	hsa-miR-1	CLIP-seq
MIRT2543046	hsa-miR-1238	CLIP-seq
MIRT2543047	hsa-miR-127-5p	CLIP-seq
MIRT2543048	hsa-miR-1299	CLIP-seq
MIRT2543049	hsa-miR-1306	CLIP-seq
MIRT2543050	hsa-miR-146a	CLIP-seq
MIRT2543051	hsa-miR-146b-5p	CLIP-seq
MIRT2543052	hsa-miR-149	CLIP-seq
MIRT2543053	hsa-miR-206	CLIP-seq
MIRT2543054	hsa-miR-24	CLIP-seq
MIRT2543055	hsa-miR-3064-5p	CLIP-seq
MIRT2543056	hsa-miR-3126-3p	CLIP-seq
MIRT2543057	hsa-miR-3155	CLIP-seq
MIRT2543058	hsa-miR-3155b	CLIP-seq
MIRT2543059	hsa-miR-3177-5p	CLIP-seq
MIRT2543060	hsa-miR-3183	CLIP-seq
MIRT2543061	hsa-miR-3189-3p	CLIP-seq
MIRT2543062	hsa-miR-3605-3p	CLIP-seq
MIRT2543063	hsa-miR-362-5p	CLIP-seq
MIRT2543064	hsa-miR-3664-3p	CLIP-seq
MIRT2543065	hsa-miR-3673	CLIP-seq
MIRT2543066	hsa-miR-370	CLIP-seq
MIRT2543067	hsa-miR-3910	CLIP-seq
MIRT1034185	hsa-miR-3919	CLIP-seq
MIRT2543068	hsa-miR-3978	CLIP-seq
MIRT2543069	hsa-miR-4258	CLIP-seq
MIRT2543070	hsa-miR-4261	CLIP-seq
MIRT2543071	hsa-miR-4284	CLIP-seq
MIRT2543072	hsa-miR-4318	CLIP-seq
MIRT2543073	hsa-miR-4421	CLIP-seq
MIRT2543074	hsa-miR-4428	CLIP-seq
MIRT2543075	hsa-miR-4448	CLIP-seq
MIRT2543076	hsa-miR-4449	CLIP-seq
MIRT2543077	hsa-miR-4524	CLIP-seq
MIRT2543078	hsa-miR-4527	CLIP-seq
MIRT2543079	hsa-miR-4539	CLIP-seq
MIRT2543080	hsa-miR-4635	CLIP-seq
MIRT2543081	hsa-miR-4645-5p	CLIP-seq
MIRT2543082	hsa-miR-4661-3p	CLIP-seq
MIRT2543083	hsa-miR-4673	CLIP-seq
MIRT2543084	hsa-miR-4691-3p	CLIP-seq
MIRT2543085	hsa-miR-4693-3p	CLIP-seq
MIRT2543086	hsa-miR-4723-3p	CLIP-seq
MIRT2543087	hsa-miR-4782-5p	CLIP-seq
MIRT2543088	hsa-miR-4794	CLIP-seq
MIRT2543089	hsa-miR-484	CLIP-seq
MIRT2543090	hsa-miR-488	CLIP-seq
MIRT2543091	hsa-miR-494	CLIP-seq
MIRT2543092	hsa-miR-500b	CLIP-seq
MIRT2543093	hsa-miR-516b	CLIP-seq
MIRT2543094	hsa-miR-548an	CLIP-seq
MIRT2543095	hsa-miR-561	CLIP-seq
MIRT2543096	hsa-miR-589	CLIP-seq
MIRT2543097	hsa-miR-613	CLIP-seq
MIRT2543098	hsa-miR-626	CLIP-seq
MIRT2543099	hsa-miR-875-3p	CLIP-seq
MIRT2543100	hsa-miR-891a	CLIP-seq
MIRT2543045	hsa-miR-1	CLIP-seq
MIRT2543046	hsa-miR-1238	CLIP-seq
MIRT2543047	hsa-miR-127-5p	CLIP-seq
MIRT2682081	hsa-miR-128	CLIP-seq
MIRT2543050	hsa-miR-146a	CLIP-seq
MIRT2543051	hsa-miR-146b-5p	CLIP-seq
MIRT2543052	hsa-miR-149	CLIP-seq
MIRT2543053	hsa-miR-206	CLIP-seq
MIRT2543054	hsa-miR-24	CLIP-seq
MIRT2543055	hsa-miR-3064-5p	CLIP-seq
MIRT2543056	hsa-miR-3126-3p	CLIP-seq
MIRT2543059	hsa-miR-3177-5p	CLIP-seq
MIRT2543060	hsa-miR-3183	CLIP-seq
MIRT2543062	hsa-miR-3605-3p	CLIP-seq
MIRT2543063	hsa-miR-362-5p	CLIP-seq
MIRT2543064	hsa-miR-3664-3p	CLIP-seq
MIRT2543065	hsa-miR-3673	CLIP-seq
MIRT2543066	hsa-miR-370	CLIP-seq
MIRT2543067	hsa-miR-3910	CLIP-seq
MIRT1034185	hsa-miR-3919	CLIP-seq
MIRT2543069	hsa-miR-4258	CLIP-seq
MIRT2543071	hsa-miR-4284	CLIP-seq
MIRT2543072	hsa-miR-4318	CLIP-seq
MIRT2543073	hsa-miR-4421	CLIP-seq
MIRT2543074	hsa-miR-4428	CLIP-seq
MIRT2543076	hsa-miR-4449	CLIP-seq
MIRT2543077	hsa-miR-4524	CLIP-seq
MIRT2543078	hsa-miR-4527	CLIP-seq
MIRT2543079	hsa-miR-4539	CLIP-seq
MIRT2543080	hsa-miR-4635	CLIP-seq
MIRT2543082	hsa-miR-4661-3p	CLIP-seq
MIRT2543084	hsa-miR-4691-3p	CLIP-seq
MIRT2543085	hsa-miR-4693-3p	CLIP-seq
MIRT2682082	hsa-miR-4717-3p	CLIP-seq
MIRT2543086	hsa-miR-4723-3p	CLIP-seq
MIRT2543088	hsa-miR-4794	CLIP-seq
MIRT2543090	hsa-miR-488	CLIP-seq
MIRT2543092	hsa-miR-500b	CLIP-seq
MIRT2543094	hsa-miR-548an	CLIP-seq
MIRT2543095	hsa-miR-561	CLIP-seq
MIRT2543096	hsa-miR-589	CLIP-seq
MIRT2682083	hsa-miR-610	CLIP-seq
MIRT2543097	hsa-miR-613	CLIP-seq
MIRT2543098	hsa-miR-626	CLIP-seq
MIRT2543100	hsa-miR-891a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	ISS
GO:0004971	Function	AMPA glutamate receptor activity	IBA	21873635
GO:0004971	Function	AMPA glutamate receptor activity	IDA	21172611
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0007215	Process	Glutamate receptor signaling pathway	TAS	1709304
GO:0015276	Function	Ligand-gated ion channel activity	IBA	21873635
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0032281	Component	AMPA glutamate receptor complex	IBA	21873635
GO:0032281	Component	AMPA glutamate receptor complex	ISS
GO:0034220	Process	Ion transmembrane transport	IEA
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	IEA
GO:0038023	Function	Signaling receptor activity	IBA	21873635
GO:0043197	Component	Dendritic spine	IBA	21873635
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0098688	Component	Parallel fiber to Purkinje cell synapse	IEA
GO:1904315	Function	Transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA
GO:2000310	Process	Regulation of NMDA receptor activity	TAS

Other IDs

• MIM: 305915
• HGNC: 4573
• e!Ensembl: ENSG00000125675

Protein

• UniProt ID: P42263
• Protein name: Glutamate receptor 3 (GluR-3) (AMPA-selective glutamate receptor 3) (GluR-C) (GluR-K3) (Glutamate receptor ionotropic, AMPA 3)
• Protein function: Ionotropic glutamate receptor that functions as a ligand-gated cation channel, gated by L-glutamate and glutamatergic agonists such as alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA), quisqualic acid, and kainic acid (By similari
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01094	ANF_receptor	46 → 392	Receptor family ligand binding region	Family
  PF10613	Lig_chan-Glu_bd	423 → 538	Ligated ion channel L-glutamate- and glycine-binding site	Domain
  PF00060	Lig_chan	552 → 835	Ligand-gated ion channel	Family

• Sequence:

  MARQKKMGQSVLRAVFFLVLGLLGHSHGGFPNTISIGGLFMRNTVQEHSAFRFAVQLYNT
  NQNTTEKPFHLNYHVDHLDSSNSFSVTNAFCSQFSRGVYAIFGFYDQMSMNTLTSFCGAL
  HTSFVTPSFPTDADVQFVIQMRPALKGAILSLLGHYKWEKFVYLYDTERGFSILQAIMEA
  AVQNNWQVTARSVGNIKDVQEFRRIIEEMDRRQEKRYLIDCEVERINTILEQVVILGKHS
  RGYHYMLANLGFTDILLERVMHGGANITGFQIVNNENPMVQQFIQRWVRLDEREFPEAKN
  APLKYTSALTHDAILVIAEAFRYLRRQRVDVSRRGSAGDCLANPAVPWSQGIDIERALKM
  VQVQGMTGNIQFDTYGRRTNYTIDVYEMKVSGSRKAGYWNEYERFVPFSDQQISNDSASS
  ENRTIVVTTILESPYVMYKKNHEQLEGNERYEGYCVDLAYEIAKHVRIKYKLSIVGDGKY
  GARDPETKIWNGMVGELVYGRADIAVAPLTITLVREEVIDFSKPFMSLGISIMIKKPQKS
  KPGVFSFLDPLAYEIWMCIVFAYIGVSVVLFLVSRFSPYEWHLEDNNEEPRDPQSPPDPP
  NEFGIFNSLWFSLGAFMQQGCDISPRSLSGRIVGGVWWFFTLIIISSYTANLAAFLTVER
  MVSPIESAEDLAKQTEIAYGTLDSGSTKEFFRRSKIAVYEKMWSYMKSAEPSVFTKTTAD
  GVARVRKSKGKFAFLLESTMNEYIEQRKPCDTMKVGGNLDSKGYGVATPKGSALRNAVNL
  AVLKLNEQGLLDKLKNKWWYDKGECGSGGGDSKDKTSALSLSNVAGVFYILVGGLGLAMM
  VALIEFCYKSRAESKRMKLTKNTQNFKPAPATNTQNYATYREGYNVYGTESVKI

• Sequence length: 894

Pathways

KEGG:

cAMP signaling pathway
Neuroactive ligand-receptor interaction
Circadian entrainment
Retrograde endocannabinoid signaling
Glutamatergic synapse
Dopaminergic synapse
Long-term depression
Huntington disease
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
Amphetamine addiction
Nicotine addiction
Transcriptional misregulation in cancer

Reactome:

Activation of AMPA receptors
Trafficking of AMPA receptors
Trafficking of GluR2-containing AMPA receptors
Unblocking of NMDA receptors, glutamate binding and activation
Synaptic adhesion-like molecules

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, Familial	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs371575563, rs1402429085, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	15264227
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay, Gross motor development delay, Profound 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	29016847
Mental retardation	Severe intellectual disability, Mild Mental Retardation, Moderate intellectual disability, MENTAL RETARDATION, X-LINKED 94 (disorder), 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	29016847, 17989220
Lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	15264227
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation, x-linked	X-linked intellectual disability due to GRIA3 mutations	rs1603009115, rs199422240, rs199422234, rs782600511, rs199422235, rs199422236, rs199422237, rs199422238, rs199422239, rs2147483647, rs137852561, rs104894952, rs137852350, rs137852351, rs137852352, rs587776734, rs267606995, rs121918525, rs121918526, rs606231182, rs606231183, rs137852214, rs137852215, rs121918522, rs121918523, rs121918524, rs121918521, rs730882185, rs730882186, rs137853272, rs267607187, rs267607189, rs267607188, rs1602048836, rs1602048728, rs1328291159, rs28936077, rs121434615, rs121434616, rs786200913, rs1603370185, rs122468181, rs122468182, rs122461160, rs122461161, rs1373474125, rs137852815, rs387906499, rs122458138, rs1569423317, rs122458139, rs121434611, rs121434612, rs121434613, rs121434614, rs397515381, rs121434610, rs267607076, rs121434608, rs121434609, rs104894950, rs122454129, rs61748421, rs398122813, rs387906703, rs398122814, rs398122844, rs387906704, rs387906705, rs398122846, rs398122847, rs398122854, rs387906728, rs281860639, rs387906729, rs397515550, rs397515551, rs397518478, rs397518479, rs397515553, rs587777161, rs587777261, rs587777317, rs587777318, rs587777359, rs587777360, rs587777361, rs587780372, rs1555949612, rs267608329, rs61754457, rs587777605, rs267608465, rs786205133, rs606231282, rs587783357, rs587783360, rs587783361, rs587783362, rs587783364, rs587783366, rs587783368, rs587783370, rs587783371, rs137929307, rs727503977, rs727505397, rs786205208, rs794727270, rs139990565, rs794727881, rs796052231, rs796052232, rs796052234, rs796052235, rs796052236, rs796052230, rs796052226, rs797045024, rs797045025, rs869320681, rs797045026, rs797044862, rs797045140, rs879255583, rs879255584, rs797045920, rs797045433, rs749742837, rs797045431, rs782246658, rs797045646, rs863224854, rs863224879, rs864321627, rs864321628, rs864321631, rs869025343, rs869025344, rs869025345, rs869025588, rs869025589, rs869025590, rs869025591, rs869025592, rs752738546, rs875989829, rs869312692, rs1555988417, rs886039763, rs886039764, rs875989799, rs875989803, rs875989802, rs876661316, rs878853055, rs758719615, rs878854425, rs1569309474, rs1569309776, rs1569309459, rs1923775114, rs1569233549, rs1569230006, rs1569231897, rs886037836, rs1114167352, rs1929024034, rs886038208, rs886038209, rs886038210, rs886038211, rs886041767, rs886041481, rs886041705, rs886041876, rs886041701, rs886041595, rs886041433, rs886041774, rs886041971, rs1057518171, rs1057518019, rs1057518707, rs1057518697, rs1057518704, rs1057518729, rs1057518728, rs1057518730, rs1057518650, rs1057519431, rs1057519446, rs1057519430, rs1057519393, rs1057519396, rs1556909287, rs1556910184, rs1556912828, rs1556913180, rs1556913258, rs1556913268, rs782393002, rs1556955128, rs1556978515, rs1557006873, rs1557006903, rs1557024919, rs1557036757, rs1557036768, rs782099475, rs1057522024, rs1057520858, rs1057521657, rs1060499652, rs1060499661, rs1060499660, rs1060505032, rs1060505033, rs1064796023, rs1064794254, rs1064793796, rs1064796820, rs1064796827, rs1064795387, rs779508996, rs1064795512, rs1064793874, rs1085307760, rs1114167441, rs1131692155, rs1114167891, rs943295842, rs1131690786, rs1131691299, rs1131691887, rs1131691982, rs1131692040, rs1131692041, rs1131692042, rs1131692227, rs1135401788, rs1135401800, rs1135401762, rs1556014749, rs1556910261, rs1555972599, rs1556235551, rs1557314191, rs1555972628, rs1555980033, rs886128077, rs1556863435, rs1556016632, rs780775497, rs1555933969, rs1555953398, rs1555953819, rs1556016802, rs1556016731, rs1556016555, rs1555950011, rs1556518231, rs1555975458, rs1555986221, rs1556254569, rs904072058, rs1555953488, rs1064794574, rs1556861311, rs1555970404, rs1555981722, rs1556863398, rs1556865060, rs1556016292, rs1556016529, rs1556858912, rs1555932766, rs1556377028, rs1555930128, rs1556836399, rs1555974716, rs1556016224, rs1555981717, rs1556863340, rs1555954380, rs1556852362, rs1556220623, rs1555953548, rs1555954284, rs1556220029, rs1556206910, rs1555977199, rs1556863492, rs1555951993, rs1556880284, rs1555980523, rs1555924331, rs1555917927, rs1555954154, rs1556244406, rs1267519974, rs1555954105, rs1569335265, rs1569429756, rs374220843, rs1569302816, rs782660318, rs1569306724, rs1569309460, rs1569309816, rs1569309449, rs1569395541, rs1569288603, rs1569309484, rs1569057837, rs1569301036, rs1569290954, rs1569291699, rs1569300277, rs1569509136, rs1569394026, rs1569336024, rs1569203705, rs1569234653, rs1569291627, rs1602311804, rs1569238002, rs1569290395, rs1602220706, rs1569399945, rs1569389364, rs1569271378, rs1569271892, rs1569350993, rs1569277866, rs1569277899, rs1569295677, rs1569291261, rs1569380062, rs1603378331, rs1569261319, rs1569278313, rs1602284689, rs1602134459, rs1602424764, rs1602264294, rs1602291658, rs1602291861, rs1602383045, rs1602211123, rs1602279457, rs905353542, rs1602131859, rs1602131872, rs1602132216, rs1602183619, rs1602228596, rs1603305030, rs1602136369, rs1603377813, rs1602624914, rs1602134468, rs1602155923, rs1602183890, rs1602152230, rs1602387702, rs1602481623, rs1602506017, rs1602538353, rs1602624950, rs1603308066, rs1602577238, rs1602119305, rs1602126980, rs1602127262, rs1602220170, rs1602292205, rs1602424869, rs1602283534, rs1602293475, rs1602210960, rs1602147880, rs1601761445, rs1602122138, rs1602292076, rs1555988314, rs1602159841, rs1603371016, rs774419889, rs1602134248, rs1602135698, rs1602738933, rs1602385860, rs2031508845, rs1602550687, rs1602253509, rs1602231587, rs1602210346, rs1601957478, rs1602857000, rs1602511836, rs1019534975, rs1603379772, rs1924650670, rs1772040461, rs1602253464, rs2031389522, rs267608399, rs2074091750, rs2074369642, rs2074383129, rs2061745581, rs2073058023, rs1926795050, rs2080112579, rs2063908570, rs2063927503, rs2063923605, rs2063876114, rs2031456898
Schizophrenia	Schizophrenia	rs13447324, 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	18163426, 23149219
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Seizure	Tonic - clonic 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 term	Disease name	Evidence	References	Source
Mental depression	Mental Depression, Depressive disorder		19548263, 22534499, 21966062	ClinVar
Partington syndrome	PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME		22285418, 12848940, 24721225, 10644433, 16436610, 17989220	ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Specific learning disorder	Specific learning disability			ClinVar
Neurodevelopmental Disorders	X-linked complex neurodevelopmental disorder			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	27453991
Autism Spectrum Disorder	Associate	32369665, 32977175, 36161652
Brain Diseases	Associate	26648591
Cardiovascular Diseases	Associate	32977175
CDKL5 deficiency disorder	Associate	32977175
Cerebellar Diseases	Associate	34731330
Cerebellar Hypoplasia	Associate	34731330
Chemical and Drug Induced Liver Injury	Associate	34652536
Chorea	Associate	32369665
Cognition Disorders	Associate	17989220, 29324989
Congenital Abnormalities	Associate	32977175
Death	Associate	29324989
Depressive Disorder	Associate	20579352
Developmental Disabilities	Associate	32369665, 36161652, 38038360
Disease	Associate	33818783
Epilepsies Myoclonic	Associate	32977175, 38038360
Epilepsy	Associate	32369665, 32977175, 33818783, 38038360
Epileptic Encephalopathy Early Infantile 3	Associate	38038360
Frontotemporal Dementia	Associate	35046935
Hyperekplexia	Associate	32369665
Infantile Epileptic Dyskinetic Encephalopathy	Associate	38038360
Intellectual Disability	Associate	24721225, 32369665, 32977175, 34731330, 36161652
Intraoperative Awareness	Associate	38038360
Language Development Disorders	Associate	38038360
Mental Retardation X Linked	Associate	17989220
Migraine Disorders	Associate	20579352, 26800698
Mitral Valve Insufficiency	Associate	17989220
Motor Disorders	Associate	38038360
Movement Disorders	Associate	32369665
Muscle Hypotonia	Associate	19295509, 32369665, 32977175
Myoclonus	Associate	32369665, 32977175, 38038360
Neurologic Manifestations	Associate	37921875
Non alcoholic Fatty Liver Disease	Associate	34652536
Nonsyndromic Holoprosencephaly	Associate	32977175
Pathological Conditions Anatomical	Associate	33818783
Reflex Abnormal	Associate	32977175
Retrograde Degeneration	Associate	29324989
Schizophrenia	Associate	35396579
Seizures	Associate	34731330, 36161652, 38038360
Sleep Wake Disorders	Associate	32369665
Squamous Cell Carcinoma of Head and Neck	Associate	35488327
Status Epilepticus	Associate	34731330
Stiff Person Syndrome	Associate	32369665
Teratoma	Associate	20930449