GABRA4 (gamma-aminobutyric acid type A receptor subunit alpha4)

Gene

• Entrez ID: 2557
• Gene name: Gamma-aminobutyric acid type A receptor subunit alpha4
• Gene symbol: GABRA4
• Synonyms (NCBI Gene): -
• Chromosome: 4
• Chromosome location: 4p12
• Summary: Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiaz

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT658018	hsa-miR-548aa	HITS-CLIP	23824327
MIRT658017	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT658016	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT658014	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT658013	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT658014	hsa-miR-3065-5p	HITS-CLIP	27418678
MIRT658014	hsa-miR-3065-5p	HITS-CLIP	27418678
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	27418678
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	27418678
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	27418678
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	27418678
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	27418678
MIRT658018	hsa-miR-548aa	HITS-CLIP	27418678
MIRT658018	hsa-miR-548aa	HITS-CLIP	27418678
MIRT658018	hsa-miR-548aa	HITS-CLIP	27418678
MIRT658017	hsa-miR-548ap-3p	HITS-CLIP	27418678
MIRT658017	hsa-miR-548ap-3p	HITS-CLIP	27418678
MIRT658017	hsa-miR-548ap-3p	HITS-CLIP	27418678
MIRT658016	hsa-miR-548t-3p	HITS-CLIP	27418678
MIRT658016	hsa-miR-548t-3p	HITS-CLIP	27418678
MIRT658016	hsa-miR-548t-3p	HITS-CLIP	27418678
MIRT658013	hsa-miR-6849-3p	HITS-CLIP	27418678
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT658018	hsa-miR-548aa	HITS-CLIP	23824327
MIRT658017	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT658016	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT658014	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT658013	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT1009804	hsa-miR-3189-3p	CLIP-seq
MIRT1009805	hsa-miR-362-5p	CLIP-seq
MIRT1009806	hsa-miR-3653	CLIP-seq
MIRT1009807	hsa-miR-3658	CLIP-seq
MIRT1009808	hsa-miR-4778-5p	CLIP-seq
MIRT1009809	hsa-miR-500a	CLIP-seq
MIRT1009810	hsa-miR-500b	CLIP-seq
MIRT1009811	hsa-miR-1254	CLIP-seq
MIRT1009812	hsa-miR-1283	CLIP-seq
MIRT1009813	hsa-miR-1323	CLIP-seq
MIRT1009814	hsa-miR-134	CLIP-seq
MIRT1009815	hsa-miR-147	CLIP-seq
MIRT1009816	hsa-miR-153	CLIP-seq
MIRT1009817	hsa-miR-199a-3p	CLIP-seq
MIRT1009818	hsa-miR-199b-3p	CLIP-seq
MIRT1009819	hsa-miR-19a	CLIP-seq
MIRT1009820	hsa-miR-19b	CLIP-seq
MIRT1009821	hsa-miR-2052	CLIP-seq
MIRT1009822	hsa-miR-2110	CLIP-seq
MIRT1009823	hsa-miR-2355-3p	CLIP-seq
MIRT1009824	hsa-miR-3116	CLIP-seq
MIRT1009825	hsa-miR-3118	CLIP-seq
MIRT1009826	hsa-miR-3129-5p	CLIP-seq
MIRT1009827	hsa-miR-3140-5p	CLIP-seq
MIRT1009828	hsa-miR-3160-5p	CLIP-seq
MIRT1009829	hsa-miR-3164	CLIP-seq
MIRT1009830	hsa-miR-331-5p	CLIP-seq
MIRT1009831	hsa-miR-34b	CLIP-seq
MIRT1009832	hsa-miR-3616-5p	CLIP-seq
MIRT1009833	hsa-miR-3646	CLIP-seq
MIRT1009834	hsa-miR-3647-5p	CLIP-seq
MIRT1009835	hsa-miR-3668	CLIP-seq
MIRT1009836	hsa-miR-3677-5p	CLIP-seq
MIRT1009837	hsa-miR-3689d	CLIP-seq
MIRT1009838	hsa-miR-3926	CLIP-seq
MIRT1009839	hsa-miR-409-3p	CLIP-seq
MIRT1009840	hsa-miR-4254	CLIP-seq
MIRT1009841	hsa-miR-4271	CLIP-seq
MIRT1009842	hsa-miR-4274	CLIP-seq
MIRT1009843	hsa-miR-4282	CLIP-seq
MIRT1009844	hsa-miR-4289	CLIP-seq
MIRT1009845	hsa-miR-4291	CLIP-seq
MIRT1009846	hsa-miR-4292	CLIP-seq
MIRT1009847	hsa-miR-4308	CLIP-seq
MIRT1009848	hsa-miR-4311	CLIP-seq
MIRT1009849	hsa-miR-4420	CLIP-seq
MIRT1009850	hsa-miR-4427	CLIP-seq
MIRT1009851	hsa-miR-4459	CLIP-seq
MIRT1009852	hsa-miR-4460	CLIP-seq
MIRT1009853	hsa-miR-448	CLIP-seq
MIRT1009854	hsa-miR-4481	CLIP-seq
MIRT1009855	hsa-miR-4503	CLIP-seq
MIRT1009856	hsa-miR-4517	CLIP-seq
MIRT1009857	hsa-miR-4519	CLIP-seq
MIRT1009858	hsa-miR-4646-3p	CLIP-seq
MIRT1009859	hsa-miR-4667-5p	CLIP-seq
MIRT1009860	hsa-miR-4670-3p	CLIP-seq
MIRT1009861	hsa-miR-4677-3p	CLIP-seq
MIRT1009862	hsa-miR-4678	CLIP-seq
MIRT1009863	hsa-miR-4679	CLIP-seq
MIRT1009864	hsa-miR-4680-3p	CLIP-seq
MIRT1009865	hsa-miR-4698	CLIP-seq
MIRT1009866	hsa-miR-4699-3p	CLIP-seq
MIRT1009867	hsa-miR-4700-5p	CLIP-seq
MIRT1009868	hsa-miR-4712-3p	CLIP-seq
MIRT1009869	hsa-miR-4724-5p	CLIP-seq
MIRT1009870	hsa-miR-4725-3p	CLIP-seq
MIRT1009871	hsa-miR-4727-3p	CLIP-seq
MIRT1009872	hsa-miR-4745-5p	CLIP-seq
MIRT1009873	hsa-miR-4758-5p	CLIP-seq
MIRT1009874	hsa-miR-4788	CLIP-seq
MIRT1009875	hsa-miR-4802-3p	CLIP-seq
MIRT1009876	hsa-miR-488	CLIP-seq
MIRT1009877	hsa-miR-513a-3p	CLIP-seq
MIRT1009878	hsa-miR-539	CLIP-seq
MIRT1009879	hsa-miR-545	CLIP-seq
MIRT1009880	hsa-miR-548a-5p	CLIP-seq
MIRT1009881	hsa-miR-548ab	CLIP-seq
MIRT1009882	hsa-miR-548ac	CLIP-seq
MIRT1009883	hsa-miR-548ae	CLIP-seq
MIRT1009884	hsa-miR-548aj	CLIP-seq
MIRT1009885	hsa-miR-548ak	CLIP-seq
MIRT1009886	hsa-miR-548am	CLIP-seq
MIRT1009887	hsa-miR-548b-5p	CLIP-seq
MIRT1009888	hsa-miR-548c-3p	CLIP-seq
MIRT1009889	hsa-miR-548c-5p	CLIP-seq
MIRT1009890	hsa-miR-548d-3p	CLIP-seq
MIRT1009891	hsa-miR-548d-5p	CLIP-seq
MIRT1009892	hsa-miR-548h	CLIP-seq
MIRT1009893	hsa-miR-548i	CLIP-seq
MIRT1009894	hsa-miR-548j	CLIP-seq
MIRT1009895	hsa-miR-548n	CLIP-seq
MIRT1009896	hsa-miR-548o	CLIP-seq
MIRT1009897	hsa-miR-548p	CLIP-seq
MIRT1009898	hsa-miR-548s	CLIP-seq
MIRT1009899	hsa-miR-548w	CLIP-seq
MIRT1009900	hsa-miR-548x	CLIP-seq
MIRT1009901	hsa-miR-548y	CLIP-seq
MIRT1009902	hsa-miR-548z	CLIP-seq
MIRT1009903	hsa-miR-559	CLIP-seq
MIRT1009904	hsa-miR-561	CLIP-seq
MIRT1009905	hsa-miR-570	CLIP-seq
MIRT1009906	hsa-miR-573	CLIP-seq
MIRT1009907	hsa-miR-587	CLIP-seq
MIRT1009908	hsa-miR-643	CLIP-seq
MIRT1009909	hsa-miR-660	CLIP-seq
MIRT1009910	hsa-miR-661	CLIP-seq
MIRT1009911	hsa-miR-670	CLIP-seq
MIRT1009912	hsa-miR-760	CLIP-seq
MIRT1009913	hsa-miR-765	CLIP-seq
MIRT1009914	hsa-miR-936	CLIP-seq
MIRT1009915	hsa-miR-942	CLIP-seq
MIRT1009916	hsa-miR-3922-5p	CLIP-seq
MIRT1009917	hsa-miR-4753-5p	CLIP-seq
MIRT1999151	hsa-miR-1228	CLIP-seq
MIRT1999152	hsa-miR-1297	CLIP-seq
MIRT1999153	hsa-miR-1305	CLIP-seq
MIRT1999154	hsa-miR-26a	CLIP-seq
MIRT1999155	hsa-miR-26b	CLIP-seq
MIRT1999156	hsa-miR-3163	CLIP-seq
MIRT1009833	hsa-miR-3646	CLIP-seq
MIRT1999157	hsa-miR-3662	CLIP-seq
MIRT1999158	hsa-miR-3942-3p	CLIP-seq
MIRT1999159	hsa-miR-421	CLIP-seq
MIRT1009843	hsa-miR-4282	CLIP-seq
MIRT1999160	hsa-miR-4326	CLIP-seq
MIRT1999161	hsa-miR-4465	CLIP-seq
MIRT2232843	hsa-miR-3973	CLIP-seq
MIRT2232844	hsa-miR-1179	CLIP-seq
MIRT2232845	hsa-miR-1206	CLIP-seq
MIRT2232846	hsa-miR-181a	CLIP-seq
MIRT2232847	hsa-miR-181b	CLIP-seq
MIRT2232848	hsa-miR-181c	CLIP-seq
MIRT2232849	hsa-miR-181d	CLIP-seq
MIRT2232850	hsa-miR-4262	CLIP-seq
MIRT2232851	hsa-miR-4328	CLIP-seq
MIRT2232852	hsa-miR-4652-3p	CLIP-seq
MIRT1009808	hsa-miR-4778-5p	CLIP-seq
MIRT1009888	hsa-miR-548c-3p	CLIP-seq
MIRT2232853	hsa-miR-568	CLIP-seq
MIRT1009915	hsa-miR-942	CLIP-seq
MIRT2388330	hsa-miR-1256	CLIP-seq
MIRT2388331	hsa-miR-1271	CLIP-seq
MIRT2388332	hsa-miR-182	CLIP-seq
MIRT2388333	hsa-miR-4642	CLIP-seq
MIRT2388334	hsa-miR-507	CLIP-seq
MIRT2388335	hsa-miR-557	CLIP-seq
MIRT2388336	hsa-miR-889	CLIP-seq
MIRT2388337	hsa-miR-96	CLIP-seq
MIRT1009828	hsa-miR-3160-5p	CLIP-seq
MIRT1999156	hsa-miR-3163	CLIP-seq
MIRT2536447	hsa-miR-34c-3p	CLIP-seq
MIRT1009839	hsa-miR-409-3p	CLIP-seq
MIRT2536448	hsa-miR-4305	CLIP-seq
MIRT1009855	hsa-miR-4503	CLIP-seq
MIRT2536449	hsa-miR-4777-5p	CLIP-seq
MIRT2536450	hsa-miR-518d-5p	CLIP-seq
MIRT2536451	hsa-miR-519b-5p	CLIP-seq
MIRT2536452	hsa-miR-519c-5p	CLIP-seq
MIRT2536453	hsa-miR-520c-5p	CLIP-seq
MIRT2536454	hsa-miR-526a	CLIP-seq
MIRT2536455	hsa-miR-548ag	CLIP-seq
MIRT2536456	hsa-miR-548ai	CLIP-seq
MIRT1009888	hsa-miR-548c-3p	CLIP-seq
MIRT2536457	hsa-miR-548m	CLIP-seq
MIRT2536458	hsa-miR-569	CLIP-seq
MIRT2681319	hsa-let-7a	CLIP-seq
MIRT2681320	hsa-let-7b	CLIP-seq
MIRT2681321	hsa-let-7c	CLIP-seq
MIRT2681322	hsa-let-7d	CLIP-seq
MIRT2681323	hsa-let-7e	CLIP-seq
MIRT2681324	hsa-let-7f	CLIP-seq
MIRT2681325	hsa-let-7g	CLIP-seq
MIRT2681326	hsa-let-7i	CLIP-seq
MIRT2681327	hsa-miR-202	CLIP-seq
MIRT1009828	hsa-miR-3160-5p	CLIP-seq
MIRT1999156	hsa-miR-3163	CLIP-seq
MIRT2681328	hsa-miR-3200-5p	CLIP-seq
MIRT2536447	hsa-miR-34c-3p	CLIP-seq
MIRT1009839	hsa-miR-409-3p	CLIP-seq
MIRT2681329	hsa-miR-4458	CLIP-seq
MIRT2681330	hsa-miR-4500	CLIP-seq
MIRT2681331	hsa-miR-4502	CLIP-seq
MIRT1009855	hsa-miR-4503	CLIP-seq
MIRT2536458	hsa-miR-569	CLIP-seq
MIRT2681332	hsa-miR-607	CLIP-seq
MIRT2681333	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004890	Function	GABA-A receptor activity	IBA	21873635
GO:0005237	Function	Inhibitory extracellular ligand-gated ion channel activity	IBA	21873635
GO:0005254	Function	Chloride channel activity	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IBA	21873635
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0008503	Function	Benzodiazepine receptor activity	IBA	21873635
GO:0022851	Function	GABA-gated chloride ion channel activity	IBA	21873635
GO:0030594	Function	Neurotransmitter receptor activity	IBA	21873635
GO:0032590	Component	Dendrite membrane	IBA	21873635
GO:0034220	Process	Ion transmembrane transport	IBA	21873635
GO:0034707	Component	Chloride channel complex	IEA
GO:0042391	Process	Regulation of membrane potential	IBA	21873635
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0045202	Component	Synapse	IBA	21873635
GO:0050877	Process	Nervous system process	IBA	21873635
GO:0051932	Process	Synaptic transmission, GABAergic	IBA	21873635
GO:0060078	Process	Regulation of postsynaptic membrane potential	IBA	21873635
GO:0098794	Component	Postsynapse	IBA	21873635
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099060	Component	Integral component of postsynaptic specialization membrane	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA	21873635
GO:1902711	Component	GABA-A receptor complex	IBA	21873635
GO:1904315	Function	Transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IBA	21873635

Other IDs

• MIM: 137141
• HGNC: 4078
• e!Ensembl: ENSG00000109158

Protein

• UniProt ID: P48169
• Protein name: Gamma-aminobutyric acid receptor subunit alpha-4 (GABA(A) receptor subunit alpha-4) (GABAAR subunit alpha-4)
• Protein function: Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:35355020). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR),
• PDB: 7QN5, 7QN7, 7QN9, 7QNA, 7QNC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	48 → 256	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02932	Neur_chan_memb	263 → 538	Neurotransmitter-gated ion-channel transmembrane region	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the brain. {ECO:0000250|UniProtKB:Q9D6F4}.
• Sequence:

  MVSAKKVPAIALSAGVSFALLRFLCLAVCLNESPGQNQKEEKLCTENFTRILDSLLDGYD
  NRLRPGFGGPVTEVKTDIYVTSFGPVSDVEMEYTMDVFFRQTWIDKRLKYDGPIEILRLN
  NMMVTKVWTPDTFFRNGKKSVSHNMTAPNKLFRIMRNGTILYTMRLTISAECPMRLVDFP
  MDGHACPLKFGSYAYPKSEMIYTWTKGPEKSVEVPKESSSLVQYDLIGQTVSSETIKSIT
  GEYIVMTVYFHLRRKMGYFMIQTYIPCIMTVILSQVSFWINKESVPARTVFGITTVLTMT
  TLSISARHSLPKVSYATAMDWFIAVCFAFVFSALIEFAAVNYFTNIQMEKAKRKTSKPPQ
  EVPAAPVQREKHPEAPLQNTNANLNMRKRTNALVHSESDVGNRTEVGNHSSKSSTVVQES
  SKGTPRSYLASSPNPFSRANAAETISAARALPSASPTSIRTGYMPRKASVGSASTRHVFG
  SRLQRIKTTVNTIGATGKLSATPPPSAPPPSGSGTSKIDKYARILFPVTFGAFNMVYWVV
  YLSKDTMEKSESLM

• Sequence length: 554

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Retrograde endocannabinoid signaling
GABAergic synapse
Taste transduction
Morphine addiction
Nicotine addiction

Reactome:

GABA receptor activation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542	16770606, 16080114
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
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	23937595
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	20583128

Unknown
Disease term	Disease name	Evidence	References	Source
Developmental And Epileptic Encephalopathy	genetic developmental and epileptic encephalopathy			GenCC
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Autism Spectrum Disorder	Associate	29151244
Autistic Disorder	Associate	16080114, 16770606, 20066485, 25124326
Bipolar Disorder	Associate	19078961
Cell Transformation Neoplastic	Associate	24553397
Colorectal Neoplasms	Associate	32453965
Developmental Disabilities	Associate	35152403
Drug Resistant Epilepsy	Associate	35152403
Epilepsy	Associate	17124266, 35152403
Fabry Disease	Associate	40233852
Fetal Alcohol Spectrum Disorders	Associate	35152403
Leukemia T Cell	Associate	39366464
Nervous System Diseases	Associate	25124326
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	39366464
Seizures	Associate	35152403