DLG4 (discs large MAGUK scaffold protein 4)

Gene

• Entrez ID: 1742
• Gene name: Discs large MAGUK scaffold protein 4
• Gene symbol: DLG4
• Synonyms (NCBI Gene): MRD62, PSD95, SAP-90, SAP90
• Disease Acronyms (UniProt): MRD62
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at pos

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs869312859	->A	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs1182894684	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant
rs1555522077	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1567528092	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1567532079	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1597442444	C>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597444614	A>G	Likely-pathogenic, pathogenic	Splice donor variant
rs1597451690	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597452702	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1597453595	AGGATAAA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597471063	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597472411	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019881	hsa-miR-375	qRT-PCR;Microarray	20584986
MIRT019881	hsa-miR-375	qRT-PCR;Microarray	20584986
MIRT047670	hsa-miR-10a-5p	CLASH	23622248
MIRT615343	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT615342	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT615341	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT615343	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT615342	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT615341	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT938297	hsa-miR-1207-5p	CLIP-seq
MIRT938298	hsa-miR-1291	CLIP-seq
MIRT938299	hsa-miR-1299	CLIP-seq
MIRT938300	hsa-miR-1827	CLIP-seq
MIRT938301	hsa-miR-1972	CLIP-seq
MIRT938302	hsa-miR-3134	CLIP-seq
MIRT938303	hsa-miR-3612	CLIP-seq
MIRT938304	hsa-miR-4436b-3p	CLIP-seq
MIRT938305	hsa-miR-4443	CLIP-seq
MIRT938306	hsa-miR-4534	CLIP-seq
MIRT938307	hsa-miR-4645-5p	CLIP-seq
MIRT938308	hsa-miR-4649-5p	CLIP-seq
MIRT938309	hsa-miR-4673	CLIP-seq
MIRT938310	hsa-miR-4685-5p	CLIP-seq
MIRT938311	hsa-miR-4732-3p	CLIP-seq
MIRT938312	hsa-miR-4763-3p	CLIP-seq
MIRT938313	hsa-miR-4782-5p	CLIP-seq
MIRT938314	hsa-miR-4802-5p	CLIP-seq
MIRT938315	hsa-miR-516b	CLIP-seq
MIRT938316	hsa-miR-617	CLIP-seq
MIRT938317	hsa-miR-650	CLIP-seq
MIRT938318	hsa-miR-875-3p	CLIP-seq
MIRT938319	hsa-miR-940	CLIP-seq
MIRT938320	hsa-miR-1275	CLIP-seq
MIRT938321	hsa-miR-2392	CLIP-seq
MIRT938322	hsa-miR-3605-5p	CLIP-seq
MIRT938323	hsa-miR-3616-3p	CLIP-seq
MIRT938324	hsa-miR-3665	CLIP-seq
MIRT938304	hsa-miR-4436b-3p	CLIP-seq
MIRT938325	hsa-miR-4525	CLIP-seq
MIRT938326	hsa-miR-4665-5p	CLIP-seq
MIRT938327	hsa-miR-4723-5p	CLIP-seq
MIRT938328	hsa-miR-4728-5p	CLIP-seq
MIRT938329	hsa-miR-4736	CLIP-seq
MIRT938330	hsa-miR-625	CLIP-seq
MIRT1977648	hsa-miR-371-5p	CLIP-seq
MIRT1977649	hsa-miR-371b-5p	CLIP-seq
MIRT1977650	hsa-miR-4639-3p	CLIP-seq
MIRT938308	hsa-miR-4649-5p	CLIP-seq
MIRT938297	hsa-miR-1207-5p	CLIP-seq
MIRT2212977	hsa-miR-3190	CLIP-seq
MIRT2212978	hsa-miR-3202	CLIP-seq
MIRT2212979	hsa-miR-3714	CLIP-seq
MIRT2212980	hsa-miR-4488	CLIP-seq
MIRT2212981	hsa-miR-4491	CLIP-seq
MIRT2212982	hsa-miR-4533	CLIP-seq
MIRT2212983	hsa-miR-4657	CLIP-seq
MIRT2212984	hsa-miR-4697-5p	CLIP-seq
MIRT938312	hsa-miR-4763-3p	CLIP-seq
MIRT938319	hsa-miR-940	CLIP-seq
MIRT2386932	hsa-miR-1236	CLIP-seq
MIRT1977650	hsa-miR-4639-3p	CLIP-seq
MIRT2448299	hsa-miR-1915	CLIP-seq
MIRT2448300	hsa-miR-3148	CLIP-seq
MIRT2448301	hsa-miR-4726-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
LMO4	Repression	18424056

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0002091	Process	Negative regulation of receptor internalization	ISS
GO:0005515	Function	Protein binding	IPI	7477295, 10433268, 10725395, 10859302, 11937501, 12097473, 12477932, 16767099, 17360663, 19118189, 19243221, 20018661, 20962234, 22117215, 23260144, 25780553, 27066583
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	TAS	10364559
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	ISS
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0007399	Process	Nervous system development	TAS	9286702
GO:0007612	Process	Learning	TAS	9853749
GO:0008021	Component	Synaptic vesicle	ISS
GO:0008022	Function	Protein C-terminus binding	IPI	7477295
GO:0008076	Component	Voltage-gated potassium channel complex	ISS
GO:0008328	Component	Ionotropic glutamate receptor complex	IBA	21873635
GO:0008328	Component	Ionotropic glutamate receptor complex	ISS
GO:0014069	Component	Postsynaptic density	ISS
GO:0016188	Process	Synaptic vesicle maturation	ISS
GO:0019900	Function	Kinase binding	IDA	21119615
GO:0019903	Function	Protein phosphatase binding	ISS
GO:0030054	Component	Cell junction	IBA	21873635
GO:0030054	Component	Cell junction	ISS
GO:0030165	Function	PDZ domain binding	ISS
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030863	Component	Cortical cytoskeleton	IDA	12151521
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	ISS
GO:0031594	Component	Neuromuscular junction	IBA	21873635
GO:0031697	Function	Beta-1 adrenergic receptor binding	ISS
GO:0031748	Function	D1 dopamine receptor binding	ISS
GO:0031812	Function	P2Y1 nucleotide receptor binding	ISS
GO:0032281	Component	AMPA glutamate receptor complex	ISS
GO:0032839	Component	Dendrite cytoplasm	ISS
GO:0033130	Function	Acetylcholine receptor binding	ISS
GO:0035176	Process	Social behavior	IEA
GO:0035255	Function	Ionotropic glutamate receptor binding	ISS
GO:0035418	Process	Protein localization to synapse	IDA	15496675
GO:0035641	Process	Locomotory exploration behavior	IEA
GO:0035865	Process	Cellular response to potassium ion	ISS
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043113	Process	Receptor clustering	IBA	21873635
GO:0043197	Component	Dendritic spine	ISS
GO:0044224	Component	Juxtaparanode region of axon	ISS
GO:0044300	Component	Cerebellar mossy fiber	IEA
GO:0044306	Component	Neuron projection terminus	ISS
GO:0044309	Component	Neuron spine	ISS
GO:0044877	Function	Protein-containing complex binding	ISS
GO:0045184	Process	Establishment of protein localization	IDA	15496675
GO:0045202	Component	Synapse	IDA	15496675
GO:0045211	Component	Postsynaptic membrane	IDA	12151521
GO:0048169	Process	Regulation of long-term neuronal synaptic plasticity	ISS
GO:0050806	Process	Positive regulation of synaptic transmission	ISS
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0060076	Component	Excitatory synapse	ISS
GO:0060997	Process	Dendritic spine morphogenesis	ISS
GO:0061098	Process	Positive regulation of protein tyrosine kinase activity	ISS	17526495
GO:0061098	Process	Positive regulation of protein tyrosine kinase activity	TAS	17526495
GO:0065003	Process	Protein-containing complex assembly	IDA	15496675
GO:0071625	Process	Vocalization behavior	IEA
GO:0097060	Component	Synaptic membrane	ISS
GO:0097109	Function	Neuroligin family protein binding	ISS
GO:0097110	Function	Scaffold protein binding	ISS
GO:0097113	Process	AMPA glutamate receptor clustering	IBA	21873635
GO:0097113	Process	AMPA glutamate receptor clustering	ISS
GO:0097113	Process	AMPA glutamate receptor clustering	TAS	19914352
GO:0097120	Process	Receptor localization to synapse	IBA	21873635
GO:0097120	Process	Receptor localization to synapse	ISS
GO:0098609	Process	Cell-cell adhesion	IBA	21873635
GO:0098839	Component	Postsynaptic density membrane	IBA	21873635
GO:0098970	Process	Postsynaptic neurotransmitter receptor diffusion trapping	IBA	21873635
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0150012	Process	Positive regulation of neuron projection arborization	ISS
GO:2000310	Process	Regulation of NMDA receptor activity	ISS
GO:2000310	Process	Regulation of NMDA receptor activity	TAS
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS
GO:2000821	Process	Regulation of grooming behavior	IEA

Other IDs

• MIM: 602887
• HGNC: 2903
• e!Ensembl: ENSG00000132535

Protein

• UniProt ID: P78352
• Protein name: Disks large homolog 4 (Postsynaptic density protein 95) (PSD-95) (Synapse-associated protein 90) (SAP-90) (SAP90)
• Protein function: Postsynaptic scaffolding protein that plays a critical role in synaptogenesis and synaptic plasticity by providing a platform for the postsynaptic clustering of crucial synaptic proteins. Interacts with the cytoplasmic tail of NMDA receptor subu
• PDB: 1KEF, 2MES, 3I4W, 3K82, 3ZRT, 5J7J, 5JXB, 6QJD, 6QJF, 6QJG, 6QJI, 6QJJ, 6QJK, 6QJL, 6QJN, 6SPV, 6SPZ, 8AH4, 8AH5, 8AH6, 8AH7, 8AH8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10608	MAGUK_N_PEST	24 → 64	Polyubiquitination (PEST) N-terminal domain of MAGUK	Domain
  PF00595	PDZ	65 → 149	PDZ domain	Domain
  PF00595	PDZ	160 → 244	PDZ domain	Domain
  PF10600	PDZ_assoc	245 → 312	PDZ-associated domain of NMDA receptors	Domain
  PF00595	PDZ	313 → 391	PDZ domain	Domain
  PF00018	SH3_1	434 → 490	SH3 domain	Domain
  PF00625	Guanylate_kin	533 → 711	Guanylate kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain.
• Sequence:

  MDCLCIVTTKKYRYQDEDTPPLEHSPAHLPNQANSPPVIVNTDTLEAPGYELQVNGTEGE
  MEYEEITLERGNSGLGFSIAGGTDNPHIGDDPSIFITKIIPGGAAAQDGRLRVNDSILFV
  NEVDVREVTHSAAVEALKEAGSIVRLYVMRRKPPAEKVMEIKLIKGPKGLGFSIAGGVGN
  QHIPGDNSIYVTKIIEGGAAHKDGRLQIGDKILAVNSVGLEDVMHEDAVAALKNTYDVVY
  LKVAKPSNAYLSDSYAPPDITTSYSQHLDNEISHSSYLGTDYPTAMTPTSPRRYSPVAKD
  LLGEEDIPREPRRIVIHRGSTGLGFNIVGGEDGEGIFISFILAGGPADLSGELRKGDQIL
  SVNGVDLRNASHEQAAIALKNAGQTVTIIAQYKPEEYSRFEAKIHDLREQLMNSSLGSGT
  ASLRSNPKRGFYIRALFDYDKTKDCGFLSQALSFRFGDVLHVIDASDEEWWQARRVHSDS
  ETDDIGFIPSKRRVERREWSRLKAKDWGSSSGSQGREDSVLSYETVTQMEVHYARPIIIL
  GPTKDRANDDLLSEFPDKFGSCVPHTTRPKREYEIDGRDYHFVSSREKMEKDIQAHKFIE
  AGQYNSHLYGTSVQSVREVAEQGKHCILDVSANAVRRLQAAHLHPIAIFIRPRSLENVLE
  INKRITEEQARKAFDRATKLEQEFTECFSAIVEGDSFEEIYHKVKRVIEDLSGPYIWVPA
  RERL

• Sequence length: 724

Pathways

KEGG:

Hippo signaling pathway
Glutamatergic synapse
Huntington disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction

Reactome:

Trafficking of AMPA receptors
Unblocking of NMDA receptors, glutamate binding and activation
Activation of Ca-permeable Kainate Receptor
RHO GTPases activate CIT
RAF/MAP kinase cascade
LGI-ADAM interactions
Neurexins and neuroligins
Synaptic adhesion-like molecules

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	20952458
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	28135719
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059	28191889
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	21151988, 23921260, 18033238

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Mental Depression, Depressive disorder, Unipolar Depression, Major Depressive Disorder		19917299, 21635931, 15054476, 16023328, 18033238	ClinVar
Williams syndrome	Williams Syndrome		20952458	ClinVar
Neurodevelopmental Disorders	complex neurodevelopmental disorder			GenCC
Metabolic Syndrome	Metabolic Syndrome			GWAS
Uterine Fibroids	Uterine Fibroids			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	15509549, 25410733, 28558704, 28578378, 29851783, 30193587, 31989994, 35466940, 39210294
Alzheimer Disease	Inhibit	28598851
Ataxia Telangiectasia	Stimulate	25032865
Attention Deficit Disorder with Hyperactivity	Associate	29484270, 33597769
Autism Spectrum Disorder	Associate	27271353, 31358727, 31511657, 33597769
Brain Diseases	Associate	33597769
Brain Injury Chronic	Stimulate	36224339
Breast Neoplasms	Associate	36654075
Cartilage Diseases	Associate	37834131
Cerebellar Ataxia	Associate	24986922
Cognition Disorders	Associate	29484270
Colonic Neoplasms	Associate	36181111
Colorectal Neoplasms	Associate	36127319
Cone Dystrophy	Associate	10582582
Delirium	Associate	39210294
Dementia	Associate	29343737
Developmental Disabilities	Associate	33597769
Down Syndrome	Associate	26911678
Epilepsy	Associate	33441621, 34092786
Gliosis	Inhibit	15509549
Hypersensitivity Delayed	Associate	34092786
Hypoxia	Associate	38188159
Hypoxia Brain	Associate	38188159
Hypoxia Ischemia Brain	Associate	38015765
Intellectual Disability	Associate	19617690, 33597769
Lewy Body Disease	Associate	27357212
Lujan Fryns syndrome	Associate	33597769
Malformations of Cortical Development	Associate	15030493
Medulloblastoma	Associate	39628686
Mental Disorders	Associate	19617690, 26013316, 34092786
Mood Disorders	Associate	26013316
Neoplasms	Associate	17121805, 19617690, 36654075, 39628686
Nerve Degeneration	Associate	25410733
Neuralgia	Associate	36224339
Neurologic Manifestations	Associate	36224339
Night blindness congenital stationary	Associate	33597769
Obsessive Compulsive Disorder	Associate	36641432
Osteoarthritis	Associate	37834131
Pain	Associate	36224339
Plaque Amyloid	Associate	35466940
Prader Willi Syndrome	Associate	37491450
Prostatic Neoplasms	Associate	30138363
Reperfusion Injury	Associate	38188159
Schizophrenia	Inhibit	21490598
Schizophrenia	Associate	26013316, 27271353, 36641432
Seizures	Associate	15030493
Vision Disorders	Associate	26350515