GLRB (glycine receptor beta)

Gene

• Entrez ID: 2743
• Gene name: Glycine receptor beta
• Gene symbol: GLRB
• Synonyms (NCBI Gene): HKPX2
• Disease Acronyms (UniProt): HKPX2
• Chromosome: 4
• Chromosome location: 4q32.1
• Summary: This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909749	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs147320218	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs281864922	G>A	Likely-pathogenic	Intron variant
rs398122856	T>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1380139789	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs1415892964	A>G	Pathogenic	Splice acceptor variant
rs1560962569	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1560962636	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1579175843	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2002659	hsa-miR-18a	CLIP-seq
MIRT2002660	hsa-miR-18b	CLIP-seq
MIRT2002661	hsa-miR-4698	CLIP-seq
MIRT2002662	hsa-miR-4735-3p	CLIP-seq
MIRT2002663	hsa-miR-4769-3p	CLIP-seq
MIRT2235640	hsa-miR-105	CLIP-seq
MIRT2002659	hsa-miR-18a	CLIP-seq
MIRT2002660	hsa-miR-18b	CLIP-seq
MIRT2235641	hsa-miR-3145-3p	CLIP-seq
MIRT2235642	hsa-miR-4642	CLIP-seq
MIRT2002661	hsa-miR-4698	CLIP-seq
MIRT2002662	hsa-miR-4735-3p	CLIP-seq
MIRT2235640	hsa-miR-105	CLIP-seq
MIRT2539494	hsa-miR-1229	CLIP-seq
MIRT2539495	hsa-miR-1252	CLIP-seq
MIRT2539496	hsa-miR-1256	CLIP-seq
MIRT2539497	hsa-miR-135a	CLIP-seq
MIRT2539498	hsa-miR-135b	CLIP-seq
MIRT2539499	hsa-miR-203	CLIP-seq
MIRT2539500	hsa-miR-2054	CLIP-seq
MIRT2539501	hsa-miR-216a	CLIP-seq
MIRT2539502	hsa-miR-3064-3p	CLIP-seq
MIRT2539503	hsa-miR-3119	CLIP-seq
MIRT2539504	hsa-miR-3160-5p	CLIP-seq
MIRT2539505	hsa-miR-323-3p	CLIP-seq
MIRT2539506	hsa-miR-338-5p	CLIP-seq
MIRT2539507	hsa-miR-342-3p	CLIP-seq
MIRT2539508	hsa-miR-3647-3p	CLIP-seq
MIRT2539509	hsa-miR-3672	CLIP-seq
MIRT2539510	hsa-miR-3689a-5p	CLIP-seq
MIRT2539511	hsa-miR-3689b	CLIP-seq
MIRT2539512	hsa-miR-3689e	CLIP-seq
MIRT2539513	hsa-miR-3689f	CLIP-seq
MIRT2539514	hsa-miR-369-3p	CLIP-seq
MIRT2539515	hsa-miR-374c	CLIP-seq
MIRT2539516	hsa-miR-380	CLIP-seq
MIRT2539517	hsa-miR-3973	CLIP-seq
MIRT2539518	hsa-miR-409-3p	CLIP-seq
MIRT2539519	hsa-miR-4282	CLIP-seq
MIRT2539520	hsa-miR-4328	CLIP-seq
MIRT2539521	hsa-miR-4426	CLIP-seq
MIRT2539522	hsa-miR-4473	CLIP-seq
MIRT2539523	hsa-miR-4476	CLIP-seq
MIRT2539524	hsa-miR-4495	CLIP-seq
MIRT2539525	hsa-miR-4533	CLIP-seq
MIRT2235642	hsa-miR-4642	CLIP-seq
MIRT2539526	hsa-miR-4647	CLIP-seq
MIRT2539527	hsa-miR-4662b	CLIP-seq
MIRT2539528	hsa-miR-4671-3p	CLIP-seq
MIRT2539529	hsa-miR-4677-3p	CLIP-seq
MIRT2539530	hsa-miR-4679	CLIP-seq
MIRT2539531	hsa-miR-4694-3p	CLIP-seq
MIRT2002661	hsa-miR-4698	CLIP-seq
MIRT2539532	hsa-miR-4729	CLIP-seq
MIRT2539533	hsa-miR-4790-3p	CLIP-seq
MIRT2539534	hsa-miR-488	CLIP-seq
MIRT2539535	hsa-miR-512-3p	CLIP-seq
MIRT2539536	hsa-miR-520d-5p	CLIP-seq
MIRT2539537	hsa-miR-520f	CLIP-seq
MIRT2539538	hsa-miR-520g	CLIP-seq
MIRT2539539	hsa-miR-520h	CLIP-seq
MIRT2539540	hsa-miR-524-5p	CLIP-seq
MIRT2539541	hsa-miR-548a-5p	CLIP-seq
MIRT2539542	hsa-miR-548ab	CLIP-seq
MIRT2539543	hsa-miR-548ak	CLIP-seq
MIRT2539544	hsa-miR-548b-5p	CLIP-seq
MIRT2539545	hsa-miR-548c-5p	CLIP-seq
MIRT2539546	hsa-miR-548d-5p	CLIP-seq
MIRT2539547	hsa-miR-548h	CLIP-seq
MIRT2539548	hsa-miR-548i	CLIP-seq
MIRT2539549	hsa-miR-548j	CLIP-seq
MIRT2539550	hsa-miR-548w	CLIP-seq
MIRT2539551	hsa-miR-548y	CLIP-seq
MIRT2539552	hsa-miR-556-3p	CLIP-seq
MIRT2539553	hsa-miR-559	CLIP-seq
MIRT2539554	hsa-miR-561	CLIP-seq
MIRT2539555	hsa-miR-590-3p	CLIP-seq
MIRT2539556	hsa-miR-591	CLIP-seq
MIRT2539557	hsa-miR-624	CLIP-seq
MIRT2539558	hsa-miR-655	CLIP-seq
MIRT2235640	hsa-miR-105	CLIP-seq
MIRT2539494	hsa-miR-1229	CLIP-seq
MIRT2539496	hsa-miR-1256	CLIP-seq
MIRT2539499	hsa-miR-203	CLIP-seq
MIRT2539500	hsa-miR-2054	CLIP-seq
MIRT2539501	hsa-miR-216a	CLIP-seq
MIRT2539502	hsa-miR-3064-3p	CLIP-seq
MIRT2539506	hsa-miR-338-5p	CLIP-seq
MIRT2539507	hsa-miR-342-3p	CLIP-seq
MIRT2539508	hsa-miR-3647-3p	CLIP-seq
MIRT2539509	hsa-miR-3672	CLIP-seq
MIRT2539510	hsa-miR-3689a-5p	CLIP-seq
MIRT2539511	hsa-miR-3689b	CLIP-seq
MIRT2539512	hsa-miR-3689e	CLIP-seq
MIRT2539513	hsa-miR-3689f	CLIP-seq
MIRT2539514	hsa-miR-369-3p	CLIP-seq
MIRT2539515	hsa-miR-374c	CLIP-seq
MIRT2539516	hsa-miR-380	CLIP-seq
MIRT2539517	hsa-miR-3973	CLIP-seq
MIRT2539518	hsa-miR-409-3p	CLIP-seq
MIRT2681648	hsa-miR-4264	CLIP-seq
MIRT2539519	hsa-miR-4282	CLIP-seq
MIRT2539520	hsa-miR-4328	CLIP-seq
MIRT2539522	hsa-miR-4473	CLIP-seq
MIRT2539524	hsa-miR-4495	CLIP-seq
MIRT2235642	hsa-miR-4642	CLIP-seq
MIRT2539528	hsa-miR-4671-3p	CLIP-seq
MIRT2539529	hsa-miR-4677-3p	CLIP-seq
MIRT2539530	hsa-miR-4679	CLIP-seq
MIRT2539531	hsa-miR-4694-3p	CLIP-seq
MIRT2002661	hsa-miR-4698	CLIP-seq
MIRT2539532	hsa-miR-4729	CLIP-seq
MIRT2681649	hsa-miR-4797-3p	CLIP-seq
MIRT2539534	hsa-miR-488	CLIP-seq
MIRT2539535	hsa-miR-512-3p	CLIP-seq
MIRT2539536	hsa-miR-520d-5p	CLIP-seq
MIRT2539537	hsa-miR-520f	CLIP-seq
MIRT2539538	hsa-miR-520g	CLIP-seq
MIRT2539539	hsa-miR-520h	CLIP-seq
MIRT2539540	hsa-miR-524-5p	CLIP-seq
MIRT2539541	hsa-miR-548a-5p	CLIP-seq
MIRT2539542	hsa-miR-548ab	CLIP-seq
MIRT2539543	hsa-miR-548ak	CLIP-seq
MIRT2539544	hsa-miR-548b-5p	CLIP-seq
MIRT2539545	hsa-miR-548c-5p	CLIP-seq
MIRT2539546	hsa-miR-548d-5p	CLIP-seq
MIRT2539547	hsa-miR-548h	CLIP-seq
MIRT2539548	hsa-miR-548i	CLIP-seq
MIRT2539549	hsa-miR-548j	CLIP-seq
MIRT2539550	hsa-miR-548w	CLIP-seq
MIRT2539551	hsa-miR-548y	CLIP-seq
MIRT2539552	hsa-miR-556-3p	CLIP-seq
MIRT2539553	hsa-miR-559	CLIP-seq
MIRT2539554	hsa-miR-561	CLIP-seq
MIRT2539555	hsa-miR-590-3p	CLIP-seq
MIRT2539558	hsa-miR-655	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001964	Process	Startle response	IMP	11929858
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005254	Function	Chloride channel activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	11929858, 15215304, 26613940
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IDA	8717357
GO:0005887	Component	Integral component of plasma membrane	IMP	11929858
GO:0006811	Process	Ion transport	IDA	8717357
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0007218	Process	Neuropeptide signaling pathway	IBA	21873635
GO:0007218	Process	Neuropeptide signaling pathway	IDA	8717357
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0007268	Process	Chemical synaptic transmission	IMP	11929858
GO:0007268	Process	Chemical synaptic transmission	TAS
GO:0007340	Process	Acrosome reaction	IEA
GO:0007399	Process	Nervous system development	IMP	11929858
GO:0007601	Process	Visual perception	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0016594	Function	Glycine binding	IBA	21873635
GO:0016594	Function	Glycine binding	IMP	15748848
GO:0016933	Function	Extracellularly glycine-gated ion channel activity	IMP	11929858
GO:0016934	Function	Extracellularly glycine-gated chloride channel activity	IBA	21873635
GO:0016934	Function	Extracellularly glycine-gated chloride channel activity	IDA	8717357
GO:0016935	Component	Glycine-gated chloride channel complex	IDA	11929858
GO:0030425	Component	Dendrite	IEA
GO:0030594	Function	Neurotransmitter receptor activity	IBA	21873635
GO:0034220	Process	Ion transmembrane transport	IBA	21873635
GO:0042391	Process	Regulation of membrane potential	IBA	21873635
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043200	Process	Response to amino acid	IBA	21873635
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045202	Component	Synapse	IBA	21873635
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050877	Process	Nervous system process	IBA	21873635
GO:0060012	Process	Synaptic transmission, glycinergic	IBA	21873635
GO:0060013	Process	Righting reflex	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0097112	Process	Gamma-aminobutyric acid receptor clustering	IEA
GO:0098690	Component	Glycinergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA	21873635
GO:1902476	Process	Chloride transmembrane transport	IMP	11929858
GO:1904315	Function	Transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA

Other IDs

• MIM: 138492
• HGNC: 4329
• e!Ensembl: ENSG00000109738

Protein

• UniProt ID: P48167
• Protein name: Glycine receptor subunit beta (Glycine receptor 58 kDa subunit)
• Protein function: Subunit of heteromeric glycine-gated chloride channels (PubMed:11929858, PubMed:15302677, PubMed:16144831, PubMed:22715885, PubMed:23238346, PubMed:25445488, PubMed:34473954, PubMed:8717357). Plays an important role in the down-regulation of neu
• PDB: 5BKF, 5BKG, 7KUY, 7L31, 8DN2, 8DN3, 8DN4, 8DN5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	56 → 266	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02932	Neur_chan_memb	273 → 493	Neurotransmitter-gated ion-channel transmembrane region	Family

• Sequence:

  MKFLLTTAFLILISLWVEEAYSKEKSSKKGKGKKKQYLCPSQQSAEDLARVPANSTSNIL
  NRLLVSYDPRIRPNFKGIPVDVVVNIFINSFGSIQETTMDYRVNIFLRQKWNDPRLKLPS
  DFRGSDALTVDPTMYKCLWKPDLFFANEKSANFHDVTQENILLFIFRDGDVLVSMRLSIT
  LSCPLDLTLFPMDTQRCKMQLESFGYTTDDLRFIWQSGDPVQLEKIALPQFDIKKEDIEY
  GNCTKYYKGTGYYTCVEVIFTLRRQVGFYMMGVYAPTLLIVVLSWLSFWINPDASAARVP
  LGIFSVLSLASECTTLAAELPKVSYVKALDVWLIACLLFGFASLVEYAVVQVMLNNPKRV
  EAEKARIAKAEQADGKGGNVAKKNTVNGTGTPVHISTLQVGETRCKKVCTSKSDLRSNDF
  SIVGSLPRDFELSNYDCYGKPIEVNNGLGKSQAKNNKKPPPAKPVIPTAAKRIDLYARAL
  FPFCFLFFNVIYWSIYL

• Sequence length: 497

Pathways

KEGG:

Neuroactive ligand-receptor interaction

Reactome:

Neurotransmitter receptors and postsynaptic signal transmission

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Hereditary hyperekplexia	Hereditary hyperekplexia	rs121918408, rs121918410, rs281864915, rs121918415, rs121918418, rs281864914, rs281864916, rs281864921, rs281864919, rs281864918, rs199547699, rs760390019, rs1554083576, rs1468001309
Hyperekplexia	Hereditary Hyperexplexia, HYPEREKPLEXIA 2	rs121908493, rs281864924, rs121908495, rs121908496, rs121908497, rs121909749, rs281864922, rs121918408, rs121918409, rs121918410, rs121918411, rs121918412, rs121918413, rs281864915, rs121918415, rs121918417, rs121918418, rs267606848, rs281864926, rs281864914, rs281864916, rs281864917, rs281864920, rs281864921, rs281864925, rs281864923, rs199547699, rs752254977, rs762864856, rs1554085893, rs746631259, rs772652517, rs1181626947, rs1554874859, rs751499706, rs1415892964, rs1560962569, rs1560962636, rs376783257, rs767695215, rs770660705, rs1380139789, rs778603956, rs1590154255, rs1581623798, rs1579175843, rs1581620729, rs1581645142	23238346, 11929858, 21391991, 23184146
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
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023

Unknown
Disease term	Disease name	Evidence	References	Source
Hereditary Hyperekplexia	hereditary hyperekplexia			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Agnosia	Associate	38482990
Agoraphobia	Associate	28872638
Aphasia	Associate	27251476
Autistic Disorder	Associate	15090072
Bipolar Disorder	Associate	38482990
Cognition Disorders	Associate	38482990
Developmental Disabilities	Associate	27251476
Hyperekplexia	Associate	23238346, 33323420, 35526563
Hyperexplexia hereditary	Associate	23238346
Intellectual Disability	Associate	22669415, 38482990
Neurocognitive Disorders	Associate	38482990
Panic Disorder	Associate	28872638
Scotoma	Associate	27251476
Stiff Person Syndrome	Associate	23238346, 28872638