TSEN34 (tRNA splicing endonuclease subunit 34)

Gene

• Entrez ID: 79042
• Gene name: TRNA splicing endonuclease subunit 34
• Gene symbol: TSEN34
• Synonyms (NCBI Gene): LENG5, PCH2C, SEN34, SEN34L
• Disease Acronyms (UniProt): PCH2C
• Chromosome: 19
• Chromosome location: 19q13.42
• Summary: This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene result

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1246937494	->CTGC	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025748	hsa-miR-7-5p	Microarray	19073608
MIRT029248	hsa-miR-26b-5p	Microarray	19088304
MIRT048138	hsa-miR-197-3p	CLASH	23622248
MIRT041464	hsa-miR-193b-3p	CLASH	23622248
MIRT545081	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT545080	hsa-miR-4699-3p	HITS-CLIP	21572407
MIRT545079	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707493	hsa-miR-129-5p	HITS-CLIP	21572407
MIRT545081	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545080	hsa-miR-4699-3p	PAR-CLIP	21572407
MIRT545079	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT235432	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT235432	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT492048	hsa-miR-4803	PAR-CLIP	23592263
MIRT492047	hsa-miR-490-3p	PAR-CLIP	23592263
MIRT492046	hsa-miR-619-3p	PAR-CLIP	23592263
MIRT235433	hsa-miR-4255	PAR-CLIP	23592263
MIRT235439	hsa-miR-7852-3p	PAR-CLIP	23592263
MIRT235438	hsa-miR-6073	PAR-CLIP	23592263
MIRT545081	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT545080	hsa-miR-4699-3p	HITS-CLIP	21572407
MIRT545079	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707493	hsa-miR-129-5p	HITS-CLIP	21572407
MIRT545081	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545080	hsa-miR-4699-3p	PAR-CLIP	21572407
MIRT545079	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT235432	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT235432	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT492048	hsa-miR-4803	PAR-CLIP	23592263
MIRT492047	hsa-miR-490-3p	PAR-CLIP	23592263
MIRT492046	hsa-miR-619-3p	PAR-CLIP	23592263
MIRT235433	hsa-miR-4255	PAR-CLIP	23592263
MIRT235439	hsa-miR-7852-3p	PAR-CLIP	23592263
MIRT235438	hsa-miR-6073	PAR-CLIP	23592263
MIRT1458481	hsa-miR-150	CLIP-seq
MIRT1458482	hsa-miR-1915	CLIP-seq
MIRT1458483	hsa-miR-302a	CLIP-seq
MIRT1458484	hsa-miR-302b	CLIP-seq
MIRT1458485	hsa-miR-302c	CLIP-seq
MIRT1458486	hsa-miR-302d	CLIP-seq
MIRT1458487	hsa-miR-302e	CLIP-seq
MIRT1458488	hsa-miR-3120-5p	CLIP-seq
MIRT1458489	hsa-miR-3135b	CLIP-seq
MIRT1458490	hsa-miR-3194-3p	CLIP-seq
MIRT1458491	hsa-miR-34a	CLIP-seq
MIRT1458492	hsa-miR-34c-5p	CLIP-seq
MIRT1458493	hsa-miR-3616-3p	CLIP-seq
MIRT1458494	hsa-miR-3652	CLIP-seq
MIRT1458495	hsa-miR-372	CLIP-seq
MIRT1458496	hsa-miR-373	CLIP-seq
MIRT1458497	hsa-miR-4430	CLIP-seq
MIRT1458498	hsa-miR-4436b-3p	CLIP-seq
MIRT1458499	hsa-miR-449a	CLIP-seq
MIRT1458500	hsa-miR-449b	CLIP-seq
MIRT1458501	hsa-miR-4705	CLIP-seq
MIRT1458502	hsa-miR-4713-5p	CLIP-seq
MIRT1458503	hsa-miR-4726-3p	CLIP-seq
MIRT1458504	hsa-miR-494	CLIP-seq
MIRT1458505	hsa-miR-519a	CLIP-seq
MIRT1458506	hsa-miR-519b-3p	CLIP-seq
MIRT1458507	hsa-miR-519c-3p	CLIP-seq
MIRT1458508	hsa-miR-520a-3p	CLIP-seq
MIRT1458509	hsa-miR-520b	CLIP-seq
MIRT1458510	hsa-miR-520c-3p	CLIP-seq
MIRT1458511	hsa-miR-520d-3p	CLIP-seq
MIRT1458512	hsa-miR-520e	CLIP-seq
MIRT1458513	hsa-miR-520f	CLIP-seq
MIRT1458514	hsa-miR-532-3p	CLIP-seq
MIRT1458515	hsa-miR-181a	CLIP-seq
MIRT1458516	hsa-miR-181b	CLIP-seq
MIRT1458517	hsa-miR-181c	CLIP-seq
MIRT1458518	hsa-miR-181d	CLIP-seq
MIRT1458519	hsa-miR-298	CLIP-seq
MIRT1458491	hsa-miR-34a	CLIP-seq
MIRT1458492	hsa-miR-34c-5p	CLIP-seq
MIRT1458520	hsa-miR-3613-3p	CLIP-seq
MIRT1458521	hsa-miR-3671	CLIP-seq
MIRT1458522	hsa-miR-3678-3p	CLIP-seq
MIRT1458523	hsa-miR-410	CLIP-seq
MIRT1458524	hsa-miR-4262	CLIP-seq
MIRT1458499	hsa-miR-449a	CLIP-seq
MIRT1458500	hsa-miR-449b	CLIP-seq
MIRT1458501	hsa-miR-4705	CLIP-seq
MIRT1458525	hsa-miR-4729	CLIP-seq
MIRT1458526	hsa-miR-4762-5p	CLIP-seq
MIRT1458527	hsa-miR-607	CLIP-seq
MIRT2137607	hsa-miR-1343	CLIP-seq
MIRT1458481	hsa-miR-150	CLIP-seq
MIRT1458482	hsa-miR-1915	CLIP-seq
MIRT1458489	hsa-miR-3135b	CLIP-seq
MIRT1458491	hsa-miR-34a	CLIP-seq
MIRT1458492	hsa-miR-34c-5p	CLIP-seq
MIRT1458493	hsa-miR-3616-3p	CLIP-seq
MIRT1458494	hsa-miR-3652	CLIP-seq
MIRT2137608	hsa-miR-3663-5p	CLIP-seq
MIRT2137609	hsa-miR-371-5p	CLIP-seq
MIRT2137610	hsa-miR-371b-5p	CLIP-seq
MIRT2137611	hsa-miR-378g	CLIP-seq
MIRT2137612	hsa-miR-4312	CLIP-seq
MIRT1458497	hsa-miR-4430	CLIP-seq
MIRT1458498	hsa-miR-4436b-3p	CLIP-seq
MIRT2137613	hsa-miR-4437	CLIP-seq
MIRT2137614	hsa-miR-4487	CLIP-seq
MIRT1458499	hsa-miR-449a	CLIP-seq
MIRT1458500	hsa-miR-449b	CLIP-seq
MIRT2137615	hsa-miR-4674	CLIP-seq
MIRT1458501	hsa-miR-4705	CLIP-seq
MIRT1458502	hsa-miR-4713-5p	CLIP-seq
MIRT1458503	hsa-miR-4726-3p	CLIP-seq
MIRT2137616	hsa-miR-4757-5p	CLIP-seq
MIRT1458514	hsa-miR-532-3p	CLIP-seq
MIRT2358424	hsa-miR-1253	CLIP-seq
MIRT2358425	hsa-miR-1265	CLIP-seq
MIRT2358426	hsa-miR-134	CLIP-seq
MIRT1458481	hsa-miR-150	CLIP-seq
MIRT1458482	hsa-miR-1915	CLIP-seq
MIRT1458519	hsa-miR-298	CLIP-seq
MIRT2358427	hsa-miR-3118	CLIP-seq
MIRT1458489	hsa-miR-3135b	CLIP-seq
MIRT2358428	hsa-miR-3155	CLIP-seq
MIRT2358429	hsa-miR-3155b	CLIP-seq
MIRT2358430	hsa-miR-3164	CLIP-seq
MIRT2358431	hsa-miR-3189-5p	CLIP-seq
MIRT1458491	hsa-miR-34a	CLIP-seq
MIRT1458492	hsa-miR-34c-5p	CLIP-seq
MIRT2358432	hsa-miR-3605-5p	CLIP-seq
MIRT1458493	hsa-miR-3616-3p	CLIP-seq
MIRT1458494	hsa-miR-3652	CLIP-seq
MIRT1458522	hsa-miR-3678-3p	CLIP-seq
MIRT2358433	hsa-miR-3919	CLIP-seq
MIRT1458523	hsa-miR-410	CLIP-seq
MIRT2358434	hsa-miR-4266	CLIP-seq
MIRT2358435	hsa-miR-4305	CLIP-seq
MIRT1458497	hsa-miR-4430	CLIP-seq
MIRT1458498	hsa-miR-4436b-3p	CLIP-seq
MIRT1458499	hsa-miR-449a	CLIP-seq
MIRT1458500	hsa-miR-449b	CLIP-seq
MIRT2358436	hsa-miR-4691-3p	CLIP-seq
MIRT2358437	hsa-miR-4695-5p	CLIP-seq
MIRT1458502	hsa-miR-4713-5p	CLIP-seq
MIRT1458503	hsa-miR-4726-3p	CLIP-seq
MIRT2358438	hsa-miR-4777-5p	CLIP-seq
MIRT2358439	hsa-miR-4779	CLIP-seq
MIRT2358440	hsa-miR-484	CLIP-seq
MIRT2358441	hsa-miR-518d-5p	CLIP-seq
MIRT2358442	hsa-miR-519b-5p	CLIP-seq
MIRT2358443	hsa-miR-519c-5p	CLIP-seq
MIRT2358444	hsa-miR-520c-5p	CLIP-seq
MIRT2358445	hsa-miR-526a	CLIP-seq
MIRT1458514	hsa-miR-532-3p	CLIP-seq
MIRT2358446	hsa-miR-548m	CLIP-seq
MIRT1458481	hsa-miR-150	CLIP-seq
MIRT1458482	hsa-miR-1915	CLIP-seq
MIRT1458489	hsa-miR-3135b	CLIP-seq
MIRT1458491	hsa-miR-34a	CLIP-seq
MIRT1458492	hsa-miR-34c-5p	CLIP-seq
MIRT1458493	hsa-miR-3616-3p	CLIP-seq
MIRT1458494	hsa-miR-3652	CLIP-seq
MIRT1458497	hsa-miR-4430	CLIP-seq
MIRT1458498	hsa-miR-4436b-3p	CLIP-seq
MIRT1458499	hsa-miR-449a	CLIP-seq
MIRT1458500	hsa-miR-449b	CLIP-seq
MIRT1458502	hsa-miR-4713-5p	CLIP-seq
MIRT1458503	hsa-miR-4726-3p	CLIP-seq
MIRT1458514	hsa-miR-532-3p	CLIP-seq
MIRT2651651	hsa-miR-10a	CLIP-seq
MIRT2651652	hsa-miR-10b	CLIP-seq
MIRT2651653	hsa-miR-1245b-3p	CLIP-seq
MIRT2358424	hsa-miR-1253	CLIP-seq
MIRT2358425	hsa-miR-1265	CLIP-seq
MIRT2651654	hsa-miR-128	CLIP-seq
MIRT2651655	hsa-miR-1283	CLIP-seq
MIRT1458482	hsa-miR-1915	CLIP-seq
MIRT2651656	hsa-miR-27a	CLIP-seq
MIRT2651657	hsa-miR-27b	CLIP-seq
MIRT2358431	hsa-miR-3189-5p	CLIP-seq
MIRT2358432	hsa-miR-3605-5p	CLIP-seq
MIRT1458520	hsa-miR-3613-3p	CLIP-seq
MIRT2651658	hsa-miR-3647-3p	CLIP-seq
MIRT2358433	hsa-miR-3919	CLIP-seq
MIRT2358434	hsa-miR-4266	CLIP-seq
MIRT2651659	hsa-miR-4302	CLIP-seq
MIRT2358435	hsa-miR-4305	CLIP-seq
MIRT2358437	hsa-miR-4695-5p	CLIP-seq
MIRT1458503	hsa-miR-4726-3p	CLIP-seq
MIRT2358438	hsa-miR-4777-5p	CLIP-seq
MIRT2358439	hsa-miR-4779	CLIP-seq
MIRT1458504	hsa-miR-494	CLIP-seq
MIRT2358441	hsa-miR-518d-5p	CLIP-seq
MIRT2358442	hsa-miR-519b-5p	CLIP-seq
MIRT2358443	hsa-miR-519c-5p	CLIP-seq
MIRT2358444	hsa-miR-520c-5p	CLIP-seq
MIRT2358445	hsa-miR-526a	CLIP-seq
MIRT2651660	hsa-miR-548ae	CLIP-seq
MIRT2651661	hsa-miR-548aj	CLIP-seq
MIRT2651662	hsa-miR-548am	CLIP-seq
MIRT2358446	hsa-miR-548m	CLIP-seq
MIRT2651663	hsa-miR-548x	CLIP-seq
MIRT2651664	hsa-miR-570	CLIP-seq
MIRT2651665	hsa-miR-606	CLIP-seq
MIRT2651666	hsa-miR-619	CLIP-seq
MIRT2651651	hsa-miR-10a	CLIP-seq
MIRT2651652	hsa-miR-10b	CLIP-seq
MIRT2651653	hsa-miR-1245b-3p	CLIP-seq
MIRT2358425	hsa-miR-1265	CLIP-seq
MIRT2358431	hsa-miR-3189-5p	CLIP-seq
MIRT2358432	hsa-miR-3605-5p	CLIP-seq
MIRT1458520	hsa-miR-3613-3p	CLIP-seq
MIRT2358434	hsa-miR-4266	CLIP-seq
MIRT2358435	hsa-miR-4305	CLIP-seq
MIRT2358437	hsa-miR-4695-5p	CLIP-seq
MIRT2358438	hsa-miR-4777-5p	CLIP-seq
MIRT2358439	hsa-miR-4779	CLIP-seq
MIRT1458504	hsa-miR-494	CLIP-seq
MIRT2358441	hsa-miR-518d-5p	CLIP-seq
MIRT2358442	hsa-miR-519b-5p	CLIP-seq
MIRT2358443	hsa-miR-519c-5p	CLIP-seq
MIRT2358444	hsa-miR-520c-5p	CLIP-seq
MIRT2358445	hsa-miR-526a	CLIP-seq
MIRT2651660	hsa-miR-548ae	CLIP-seq
MIRT2651661	hsa-miR-548aj	CLIP-seq
MIRT2651662	hsa-miR-548am	CLIP-seq
MIRT2358446	hsa-miR-548m	CLIP-seq
MIRT2651663	hsa-miR-548x	CLIP-seq
MIRT2651664	hsa-miR-570	CLIP-seq
MIRT2651666	hsa-miR-619	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000213	Function	TRNA-intron endonuclease activity	IBA	21873635
GO:0000214	Component	TRNA-intron endonuclease complex	IEA
GO:0000379	Process	TRNA-type intron splice site recognition and cleavage	IBA	21873635
GO:0003676	Function	Nucleic acid binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IEA
GO:0006388	Process	TRNA splicing, via endonucleolytic cleavage and ligation	TAS
GO:0006397	Process	MRNA processing	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0090502	Process	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA

Other IDs

• MIM: 608754
• HGNC: 15506
• e!Ensembl: ENSG00000170892

Protein

• UniProt ID: Q9BSV6
• Protein name: tRNA-splicing endonuclease subunit Sen34 (EC 4.6.1.16) (Leukocyte receptor cluster member 5) (tRNA-intron endonuclease Sen34) (HsSen34)
• Protein function: Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intr
• PDB: 6Z9U, 7UXA, 7ZRZ, 8HMY, 8HMZ, 8ISS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01974	tRNA_int_endo	217 → 301	tRNA intron endonuclease, catalytic C-terminal domain	Domain

• Sequence:

  MLVVEVANGRSLVWGAEAVQALRERLGVGGRTVGALPRGPRQNSRLGLPLLLMPEEARLL
  AEIGAVTLVSAPRPDSRHHSLALTSFKRQQEESFQEQSALAAEARETRRQELLEKITEGQ
  AAKKQKLEQASGASSSQEAGSSQAAKEDETSDGQASGEQEEAGPSSSQAGPSNGVAPLPR
  SALLVQLATARPRPVKARPLDWRVQSKDWPHAGRPAHELRYSIYRDLWERGFFLSAAGKF
  GGDFLVYPGDPLRFHAHYIAQCWAPEDTIPLQDLVAAGRLGTSVRKTLLLCSPQPDGKVV
  YTSLQWASLQ

• Sequence length: 310

Pathways

Reactome:

tRNA processing in the nucleus

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Mental retardation	Profound Mental Retardation, Mental deficiency, 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	18711368
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357	18711368
Microlissencephaly	Microlissencephaly	rs771116788	18711368
Pontoneocerebellar hypoplasia	Pontocerebellar Hypoplasia Type 2A, Pontocerebellar Hypoplasia Type 2C, Pontocerebellar Hypoplasia Type 2, Pontocerebellar hypoplasia type 2, Congenital pontocerebellar hypoplasia	rs63749985, rs113994152, rs113994153, rs113994154, rs113994150, rs137853063, rs267607036, rs267607035, rs886037629, rs147391618, rs141138948, rs672601331, rs387907196, rs672601332, rs397515426, rs398122918, rs587780333, rs374550999, rs587777391, rs587777392, rs587777393, rs587777394, rs587777395, rs587777465, rs587777466, rs587777616, rs606231285, rs587784476, rs886037738, rs886037739, rs730880294, rs886037740, rs730882145, rs746260871, rs796052019, rs371295780, rs772731615, rs797046052, rs797046051, rs756696262, rs797045567, rs797046057, rs797046054, rs797046055, rs863224183, rs199835443, rs863224182, rs863224186, rs757743894, rs772887102, rs774923951, rs875989844, rs879253779, rs879253780, rs776969714, rs886041639, rs886041316, rs1057518749, rs1057518750, rs1057518887, rs1057519294, rs1057519296, rs1553730885, rs1570621473, rs371848318, rs777030573, rs758153898, rs1064795060, rs777942571, rs1554203400, rs779282547, rs1553230375, rs765088174, rs759922477, rs1554093168, rs755246924, rs1477347690, rs774157225, rs1420939606, rs781417096, rs780563835, rs772263867, rs139632595, rs768997239, rs200594402, rs1160669103, rs759331139, rs1566713184, rs753591864, rs769473411, rs1566696845, rs201467485, rs1258569046, rs1598480419, rs1309003036, rs759420180, rs199728745, rs773838753, rs1582712331, rs772146380, rs1223645705, rs774056037, rs1570621555, rs778263701, rs1557531984, rs750266350, rs1570626350, rs1584071201, rs1582576986, rs1246937494, rs1650621772, rs760433806, rs1447478732, rs1472685858, rs1712612585, rs1256144022, rs774755297, rs752086581, rs1887100431, rs762979613, rs774877872, rs201386427, rs199862050	18711368, 20952379

Unknown
Disease term	Disease name	Evidence	References	Source
Takayasu Arteritis	Takayasu Arteritis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Pontocerebellar Hypoplasia Type 2	Associate	20803644
Young McKeever Squier syndrome	Associate	20952379