EIF2S2 (eukaryotic translation initiation factor 2 subunit beta)

Gene

• Entrez ID: 8894
• Gene name: Eukaryotic translation initiation factor 2 subunit beta
• Gene symbol: EIF2S2
• Synonyms (NCBI Gene): EIF2, EIF2B, EIF2beta, PPP1R67, eIF-2-beta
• Chromosome: 20
• Chromosome location: 20q11.22
• Summary: Eukaryotic translation initiation factor 2 (EIF-2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. EIF-2 is composed of three subunits, alpha, beta, and gam

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021922	hsa-miR-128-3p	Sequencing	20371350
MIRT022382	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT028733	hsa-miR-27a-3p	Sequencing	20371350
MIRT044047	hsa-miR-363-3p	CLASH	23622248
MIRT562422	hsa-miR-3681-3p	PAR-CLIP	20371350
MIRT562421	hsa-miR-216a-3p	PAR-CLIP	20371350
MIRT021922	hsa-miR-128-3p	PAR-CLIP	20371350
MIRT028733	hsa-miR-27a-3p	PAR-CLIP	20371350
MIRT562420	hsa-miR-27b-3p	PAR-CLIP	20371350
MIRT562419	hsa-miR-548ac	PAR-CLIP	20371350
MIRT562418	hsa-miR-548bb-3p	PAR-CLIP	20371350
MIRT562417	hsa-miR-548d-3p	PAR-CLIP	20371350
MIRT562416	hsa-miR-548h-3p	PAR-CLIP	20371350
MIRT562415	hsa-miR-548z	PAR-CLIP	20371350
MIRT562414	hsa-miR-548ae-3p	PAR-CLIP	20371350
MIRT562413	hsa-miR-548ah-3p	PAR-CLIP	20371350
MIRT562412	hsa-miR-548aj-3p	PAR-CLIP	20371350
MIRT562411	hsa-miR-548am-3p	PAR-CLIP	20371350
MIRT562410	hsa-miR-548aq-3p	PAR-CLIP	20371350
MIRT562409	hsa-miR-548j-3p	PAR-CLIP	20371350
MIRT562408	hsa-miR-548x-3p	PAR-CLIP	20371350
MIRT562407	hsa-miR-1178-5p	PAR-CLIP	20371350
MIRT562406	hsa-miR-8062	PAR-CLIP	20371350
MIRT562405	hsa-miR-6892-5p	PAR-CLIP	20371350
MIRT562404	hsa-miR-4477b	PAR-CLIP	20371350
MIRT562403	hsa-miR-7856-5p	PAR-CLIP	20371350
MIRT562422	hsa-miR-3681-3p	PAR-CLIP	20371350
MIRT562421	hsa-miR-216a-3p	PAR-CLIP	20371350
MIRT021922	hsa-miR-128-3p	PAR-CLIP	20371350
MIRT028733	hsa-miR-27a-3p	PAR-CLIP	20371350
MIRT562420	hsa-miR-27b-3p	PAR-CLIP	20371350
MIRT562419	hsa-miR-548ac	PAR-CLIP	20371350
MIRT562418	hsa-miR-548bb-3p	PAR-CLIP	20371350
MIRT562417	hsa-miR-548d-3p	PAR-CLIP	20371350
MIRT562416	hsa-miR-548h-3p	PAR-CLIP	20371350
MIRT562415	hsa-miR-548z	PAR-CLIP	20371350
MIRT562414	hsa-miR-548ae-3p	PAR-CLIP	20371350
MIRT562413	hsa-miR-548ah-3p	PAR-CLIP	20371350
MIRT562412	hsa-miR-548aj-3p	PAR-CLIP	20371350
MIRT562411	hsa-miR-548am-3p	PAR-CLIP	20371350
MIRT562410	hsa-miR-548aq-3p	PAR-CLIP	20371350
MIRT562409	hsa-miR-548j-3p	PAR-CLIP	20371350
MIRT562408	hsa-miR-548x-3p	PAR-CLIP	20371350
MIRT562407	hsa-miR-1178-5p	PAR-CLIP	20371350
MIRT562406	hsa-miR-8062	PAR-CLIP	20371350
MIRT562405	hsa-miR-6892-5p	PAR-CLIP	20371350
MIRT562404	hsa-miR-4477b	PAR-CLIP	20371350
MIRT562403	hsa-miR-7856-5p	PAR-CLIP	20371350
MIRT957297	hsa-miR-1208	CLIP-seq
MIRT957298	hsa-miR-1269	CLIP-seq
MIRT957299	hsa-miR-1269b	CLIP-seq
MIRT957300	hsa-miR-186	CLIP-seq
MIRT957301	hsa-miR-324-5p	CLIP-seq
MIRT957302	hsa-miR-339-5p	CLIP-seq
MIRT957303	hsa-miR-33a	CLIP-seq
MIRT957304	hsa-miR-33b	CLIP-seq
MIRT957305	hsa-miR-34b	CLIP-seq
MIRT957306	hsa-miR-369-3p	CLIP-seq
MIRT957307	hsa-miR-374a	CLIP-seq
MIRT957308	hsa-miR-374b	CLIP-seq
MIRT957309	hsa-miR-421	CLIP-seq
MIRT957310	hsa-miR-4276	CLIP-seq
MIRT957311	hsa-miR-431	CLIP-seq
MIRT957312	hsa-miR-450b-5p	CLIP-seq
MIRT957313	hsa-miR-4520b-3p	CLIP-seq
MIRT957314	hsa-miR-4529-3p	CLIP-seq
MIRT957315	hsa-miR-4642	CLIP-seq
MIRT957316	hsa-miR-4708-3p	CLIP-seq
MIRT957317	hsa-miR-4709-5p	CLIP-seq
MIRT957318	hsa-miR-4711-5p	CLIP-seq
MIRT957319	hsa-miR-4766-3p	CLIP-seq
MIRT957320	hsa-miR-4775	CLIP-seq
MIRT957321	hsa-miR-488	CLIP-seq
MIRT957322	hsa-miR-505	CLIP-seq
MIRT957323	hsa-miR-518a-5p	CLIP-seq
MIRT957324	hsa-miR-527	CLIP-seq
MIRT957325	hsa-miR-548p	CLIP-seq
MIRT957303	hsa-miR-33a	CLIP-seq
MIRT957304	hsa-miR-33b	CLIP-seq
MIRT957311	hsa-miR-431	CLIP-seq
MIRT957316	hsa-miR-4708-3p	CLIP-seq
MIRT957318	hsa-miR-4711-5p	CLIP-seq
MIRT2218846	hsa-miR-29a	CLIP-seq
MIRT2218847	hsa-miR-29b	CLIP-seq
MIRT2218848	hsa-miR-29c	CLIP-seq
MIRT2218849	hsa-miR-3934	CLIP-seq
MIRT957309	hsa-miR-421	CLIP-seq
MIRT957311	hsa-miR-431	CLIP-seq
MIRT2218850	hsa-miR-4694-5p	CLIP-seq
MIRT957316	hsa-miR-4708-3p	CLIP-seq
MIRT957317	hsa-miR-4709-5p	CLIP-seq
MIRT957318	hsa-miR-4711-5p	CLIP-seq
MIRT2218851	hsa-miR-4731-3p	CLIP-seq
MIRT2218852	hsa-miR-4801	CLIP-seq
MIRT2218853	hsa-miR-496	CLIP-seq
MIRT957322	hsa-miR-505	CLIP-seq
MIRT2218854	hsa-miR-548a-5p	CLIP-seq
MIRT2218855	hsa-miR-548ab	CLIP-seq
MIRT2218856	hsa-miR-548ae	CLIP-seq
MIRT2218857	hsa-miR-548aj	CLIP-seq
MIRT2218858	hsa-miR-548ak	CLIP-seq
MIRT2218859	hsa-miR-548am	CLIP-seq
MIRT2218860	hsa-miR-548b-5p	CLIP-seq
MIRT2218861	hsa-miR-548c-5p	CLIP-seq
MIRT2218862	hsa-miR-548d-5p	CLIP-seq
MIRT2218863	hsa-miR-548h	CLIP-seq
MIRT2218864	hsa-miR-548i	CLIP-seq
MIRT2218865	hsa-miR-548j	CLIP-seq
MIRT2218866	hsa-miR-548k	CLIP-seq
MIRT2218867	hsa-miR-548l	CLIP-seq
MIRT2218868	hsa-miR-548w	CLIP-seq
MIRT2218869	hsa-miR-548x	CLIP-seq
MIRT2218870	hsa-miR-548y	CLIP-seq
MIRT2218871	hsa-miR-552	CLIP-seq
MIRT2218872	hsa-miR-559	CLIP-seq
MIRT2522184	hsa-miR-1200	CLIP-seq
MIRT2522185	hsa-miR-1202	CLIP-seq
MIRT2522186	hsa-miR-1227	CLIP-seq
MIRT2522187	hsa-miR-150	CLIP-seq
MIRT2522188	hsa-miR-151-5p	CLIP-seq
MIRT2522189	hsa-miR-151b	CLIP-seq
MIRT2522190	hsa-miR-3160-3p	CLIP-seq
MIRT2522191	hsa-miR-3194-5p	CLIP-seq
MIRT2522192	hsa-miR-374c	CLIP-seq
MIRT2218849	hsa-miR-3934	CLIP-seq
MIRT2522193	hsa-miR-3972	CLIP-seq
MIRT957309	hsa-miR-421	CLIP-seq
MIRT2522194	hsa-miR-4268	CLIP-seq
MIRT957311	hsa-miR-431	CLIP-seq
MIRT2522195	hsa-miR-4324	CLIP-seq
MIRT2522196	hsa-miR-4426	CLIP-seq
MIRT2522197	hsa-miR-4448	CLIP-seq
MIRT2522198	hsa-miR-4487	CLIP-seq
MIRT2522199	hsa-miR-4502	CLIP-seq
MIRT2522200	hsa-miR-455-5p	CLIP-seq
MIRT2522201	hsa-miR-4647	CLIP-seq
MIRT2522202	hsa-miR-4662b	CLIP-seq
MIRT2218850	hsa-miR-4694-5p	CLIP-seq
MIRT957316	hsa-miR-4708-3p	CLIP-seq
MIRT957317	hsa-miR-4709-5p	CLIP-seq
MIRT957318	hsa-miR-4711-5p	CLIP-seq
MIRT2522203	hsa-miR-4713-5p	CLIP-seq
MIRT2522204	hsa-miR-4714-5p	CLIP-seq
MIRT2218853	hsa-miR-496	CLIP-seq
MIRT2522205	hsa-miR-503	CLIP-seq
MIRT957322	hsa-miR-505	CLIP-seq
MIRT2522206	hsa-miR-532-3p	CLIP-seq
MIRT2522207	hsa-miR-544b	CLIP-seq
MIRT2218854	hsa-miR-548a-5p	CLIP-seq
MIRT2218855	hsa-miR-548ab	CLIP-seq
MIRT2218858	hsa-miR-548ak	CLIP-seq
MIRT2218860	hsa-miR-548b-5p	CLIP-seq
MIRT2522208	hsa-miR-548c-3p	CLIP-seq
MIRT2218861	hsa-miR-548c-5p	CLIP-seq
MIRT2218862	hsa-miR-548d-5p	CLIP-seq
MIRT2218863	hsa-miR-548h	CLIP-seq
MIRT2218864	hsa-miR-548i	CLIP-seq
MIRT2218865	hsa-miR-548j	CLIP-seq
MIRT2218866	hsa-miR-548k	CLIP-seq
MIRT2218867	hsa-miR-548l	CLIP-seq
MIRT2218868	hsa-miR-548w	CLIP-seq
MIRT2218870	hsa-miR-548y	CLIP-seq
MIRT2218871	hsa-miR-552	CLIP-seq
MIRT2522209	hsa-miR-558	CLIP-seq
MIRT2218872	hsa-miR-559	CLIP-seq
MIRT2522210	hsa-miR-655	CLIP-seq
MIRT2522211	hsa-miR-885-3p	CLIP-seq
MIRT2522212	hsa-miR-938	CLIP-seq
MIRT2522185	hsa-miR-1202	CLIP-seq
MIRT2522186	hsa-miR-1227	CLIP-seq
MIRT2522187	hsa-miR-150	CLIP-seq
MIRT2679877	hsa-miR-3127-3p	CLIP-seq
MIRT2522191	hsa-miR-3194-5p	CLIP-seq
MIRT2679878	hsa-miR-3664-3p	CLIP-seq
MIRT2522192	hsa-miR-374c	CLIP-seq
MIRT2218849	hsa-miR-3934	CLIP-seq
MIRT2522193	hsa-miR-3972	CLIP-seq
MIRT957309	hsa-miR-421	CLIP-seq
MIRT957311	hsa-miR-431	CLIP-seq
MIRT2522196	hsa-miR-4426	CLIP-seq
MIRT2522200	hsa-miR-455-5p	CLIP-seq
MIRT2522201	hsa-miR-4647	CLIP-seq
MIRT2522202	hsa-miR-4662b	CLIP-seq
MIRT2218850	hsa-miR-4694-5p	CLIP-seq
MIRT957316	hsa-miR-4708-3p	CLIP-seq
MIRT957317	hsa-miR-4709-5p	CLIP-seq
MIRT957318	hsa-miR-4711-5p	CLIP-seq
MIRT2522203	hsa-miR-4713-5p	CLIP-seq
MIRT2522204	hsa-miR-4714-5p	CLIP-seq
MIRT2218853	hsa-miR-496	CLIP-seq
MIRT957322	hsa-miR-505	CLIP-seq
MIRT2522206	hsa-miR-532-3p	CLIP-seq
MIRT2218854	hsa-miR-548a-5p	CLIP-seq
MIRT2218855	hsa-miR-548ab	CLIP-seq
MIRT2218858	hsa-miR-548ak	CLIP-seq
MIRT2218860	hsa-miR-548b-5p	CLIP-seq
MIRT2522208	hsa-miR-548c-3p	CLIP-seq
MIRT2218861	hsa-miR-548c-5p	CLIP-seq
MIRT2218862	hsa-miR-548d-5p	CLIP-seq
MIRT2218863	hsa-miR-548h	CLIP-seq
MIRT2218864	hsa-miR-548i	CLIP-seq
MIRT2218865	hsa-miR-548j	CLIP-seq
MIRT2218866	hsa-miR-548k	CLIP-seq
MIRT2218867	hsa-miR-548l	CLIP-seq
MIRT2218868	hsa-miR-548w	CLIP-seq
MIRT2218870	hsa-miR-548y	CLIP-seq
MIRT2218871	hsa-miR-552	CLIP-seq
MIRT2218872	hsa-miR-559	CLIP-seq
MIRT2522210	hsa-miR-655	CLIP-seq
MIRT2679879	hsa-miR-873	CLIP-seq
MIRT2522211	hsa-miR-885-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0001731	Process	Formation of translation preinitiation complex	IBA	21873635
GO:0001732	Process	Formation of cytoplasmic translation initiation complex	IBA	21873635
GO:0002176	Process	Male germ cell proliferation	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003729	Function	MRNA binding	IBA	21873635
GO:0003743	Function	Translation initiation factor activity	IBA	21873635
GO:0003743	Function	Translation initiation factor activity	IDA	16289705
GO:0005515	Function	Protein binding	IPI	11959995, 16288713, 16932749, 25147208, 25609649, 28514442, 32814053
GO:0005634	Component	Nucleus	IDA	12426392
GO:0005737	Component	Cytoplasm	IDA	12426392
GO:0005829	Component	Cytosol	TAS
GO:0005850	Component	Eukaryotic translation initiation factor 2 complex	IBA	21873635
GO:0005850	Component	Eukaryotic translation initiation factor 2 complex	IDA	23063529
GO:0006413	Process	Translational initiation	TAS
GO:0008135	Function	Translation factor activity, RNA binding	TAS	3044606, 10805737
GO:0008584	Process	Male gonad development	IEA
GO:0031369	Function	Translation initiation factor binding	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0055085	Process	Transmembrane transport	TAS

Other IDs

• MIM: 603908
• HGNC: 3266
• e!Ensembl: ENSG00000125977

Protein

• UniProt ID: P20042
• Protein name: Eukaryotic translation initiation factor 2 subunit 2 (Eukaryotic translation initiation factor 2 subunit beta) (eIF2-beta)
• Protein function: Component of the eIF2 complex that functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA (PubMed:31836389). This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form the
• PDB: 6K71, 6K72, 6YBV, 6ZMW, 6ZP4, 7A09, 7D43, 7QP6, 8OZ0, 8PJ1, 8PPL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01873	eIF-5_eIF-2B	192 → 308	Domain found in IF2B/IF5	Family

• Sequence:

  MSGDEMIFDPTMSKKKKKKKKPFMLDEEGDTQTEETQPSETKEVEPEPTEDKDLEADEED
  TRKKDASDDLDDLNFFNQKKKKKKTKKIFDIDEAEEGVKDLKIESDVQEPTEPEDDLDIM
  LGNKKKKKKNVKFPDEDEILEKDEALEDEDNKKDDGISFSNQTGPAWAGSERDYTYEELL
  NRVFNIMREKNPDMVAGEKRKFVMKPPQVVRVGTKKTSFVNFTDICKLLHRQPKHLLAFL
  LAELGTSGSIDGNNQLVIKGRFQQKQIENVLRRYIKEYVTCHTCRSPDTILQKDTRLYFL
  QCETCHSRCSVASIKTGFQAVTGKRAQLRAKAN

• Sequence length: 333

Pathways

Reactome:

L13a-mediated translational silencing of Ceruloplasmin expression
PERK regulates gene expression
ABC-family proteins mediated transport
Translation initiation complex formation
Formation of the ternary complex, and subsequently, the 43S complex
Ribosomal scanning and start codon recognition
GTP hydrolysis and joining of the 60S ribosomal subunit
Recycling of eIF2:GDP

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
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	25151356
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	25151356
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	25151356

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	29624814
Ataxia	Associate	12707859, 19715453
Brain Diseases	Associate	19715453
Breast Neoplasms	Associate	25151356
Carcinogenesis	Associate	32059763
Carcinoma Non Small Cell Lung	Associate	29624814
Central Nervous System Diseases	Associate	12707859, 19715453
Cerebral Palsy	Associate	36650674
Cognition Disorders	Associate	20016818
COVID 19	Stimulate	37127426
Fetal Death	Associate	20016818
Genetic Diseases Inborn	Associate	29995139
Heart Failure	Associate	32154187
Inflammation	Associate	26986695, 37127426
Leukodystrophy Metachromatic	Associate	20016818, 32197074
Leukoencephalopathies	Associate	12707859, 14681227, 19715453, 20016818, 23335982, 29995139, 32197074, 36650674, 36971196
Lung Neoplasms	Stimulate	29624814
Myositis	Associate	28692326
Neoplasm Metastasis	Stimulate	32059763
Neoplasms	Associate	32059763, 32430400, 38538250
Pancreatic Neoplasms	Associate	38538250
Urinary Bladder Neoplasms	Associate	35669725
Vanishing White Matter Leukodystrophy with Ovarian Failure	Associate	20016818, 32197074