TSEN15 (tRNA splicing endonuclease subunit 15)

Gene

• Entrez ID: 116461
• Gene name: TRNA splicing endonuclease subunit 15
• Gene symbol: TSEN15
• Synonyms (NCBI Gene): C1orf19, PCH2F, sen15
• Disease Acronyms (UniProt): PCH2F
• Chromosome: 1
• Chromosome location: 1q25.3
• Summary: This gene encodes a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from tRNA precursors. Alternative splicing results in multiple transcript variants. There is a pseudogene of this gene on chromosome 17. [provided by Ref

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs730882223	T>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs879253779	A>G	Pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs879253780	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052033	hsa-let-7b-5p	CLASH	23622248
MIRT044997	hsa-miR-186-5p	CLASH	23622248
MIRT1458384	hsa-miR-1208	CLIP-seq
MIRT1458385	hsa-miR-1243	CLIP-seq
MIRT1458386	hsa-miR-150	CLIP-seq
MIRT1458387	hsa-miR-185	CLIP-seq
MIRT1458388	hsa-miR-188-3p	CLIP-seq
MIRT1458389	hsa-miR-190	CLIP-seq
MIRT1458390	hsa-miR-190b	CLIP-seq
MIRT1458391	hsa-miR-193a-5p	CLIP-seq
MIRT1458392	hsa-miR-2054	CLIP-seq
MIRT1458393	hsa-miR-30a	CLIP-seq
MIRT1458394	hsa-miR-30b	CLIP-seq
MIRT1458395	hsa-miR-30c	CLIP-seq
MIRT1458396	hsa-miR-30d	CLIP-seq
MIRT1458397	hsa-miR-30e	CLIP-seq
MIRT1458398	hsa-miR-3125	CLIP-seq
MIRT1458399	hsa-miR-3148	CLIP-seq
MIRT1458400	hsa-miR-3161	CLIP-seq
MIRT1458401	hsa-miR-3613-5p	CLIP-seq
MIRT1458402	hsa-miR-3617	CLIP-seq
MIRT1458403	hsa-miR-3654	CLIP-seq
MIRT1458404	hsa-miR-3689a-5p	CLIP-seq
MIRT1458405	hsa-miR-3689b	CLIP-seq
MIRT1458406	hsa-miR-3689e	CLIP-seq
MIRT1458407	hsa-miR-3689f	CLIP-seq
MIRT1458408	hsa-miR-3916	CLIP-seq
MIRT1458409	hsa-miR-4272	CLIP-seq
MIRT1458410	hsa-miR-4306	CLIP-seq
MIRT1458411	hsa-miR-4501	CLIP-seq
MIRT1458412	hsa-miR-4644	CLIP-seq
MIRT1458413	hsa-miR-4713-5p	CLIP-seq
MIRT1458414	hsa-miR-4735-5p	CLIP-seq
MIRT1458415	hsa-miR-4768-5p	CLIP-seq
MIRT1458416	hsa-miR-498	CLIP-seq
MIRT1458417	hsa-miR-532-3p	CLIP-seq
MIRT1458418	hsa-miR-548a-5p	CLIP-seq
MIRT1458419	hsa-miR-548ab	CLIP-seq
MIRT1458420	hsa-miR-548ak	CLIP-seq
MIRT1458421	hsa-miR-548b-5p	CLIP-seq
MIRT1458422	hsa-miR-548c-5p	CLIP-seq
MIRT1458423	hsa-miR-548d-5p	CLIP-seq
MIRT1458424	hsa-miR-548h	CLIP-seq
MIRT1458425	hsa-miR-548i	CLIP-seq
MIRT1458426	hsa-miR-548j	CLIP-seq
MIRT1458427	hsa-miR-548n	CLIP-seq
MIRT1458428	hsa-miR-548w	CLIP-seq
MIRT1458429	hsa-miR-548y	CLIP-seq
MIRT1458430	hsa-miR-559	CLIP-seq
MIRT1458431	hsa-miR-561	CLIP-seq
MIRT1458432	hsa-miR-570	CLIP-seq
MIRT1458433	hsa-miR-641	CLIP-seq
MIRT2137566	hsa-miR-1224-3p	CLIP-seq
MIRT1458385	hsa-miR-1243	CLIP-seq
MIRT2137567	hsa-miR-1260	CLIP-seq
MIRT2137568	hsa-miR-1260b	CLIP-seq
MIRT2137569	hsa-miR-1264	CLIP-seq
MIRT2137570	hsa-miR-1280	CLIP-seq
MIRT2137571	hsa-miR-135a	CLIP-seq
MIRT2137572	hsa-miR-135b	CLIP-seq
MIRT1458391	hsa-miR-193a-5p	CLIP-seq
MIRT2137573	hsa-miR-2110	CLIP-seq
MIRT2137574	hsa-miR-2113	CLIP-seq
MIRT2137575	hsa-miR-218	CLIP-seq
MIRT1458393	hsa-miR-30a	CLIP-seq
MIRT1458394	hsa-miR-30b	CLIP-seq
MIRT1458395	hsa-miR-30c	CLIP-seq
MIRT1458396	hsa-miR-30d	CLIP-seq
MIRT1458397	hsa-miR-30e	CLIP-seq
MIRT2137576	hsa-miR-3140-3p	CLIP-seq
MIRT2137577	hsa-miR-3160-3p	CLIP-seq
MIRT2137578	hsa-miR-34a	CLIP-seq
MIRT2137579	hsa-miR-34c-5p	CLIP-seq
MIRT2137580	hsa-miR-3614-5p	CLIP-seq
MIRT1458402	hsa-miR-3617	CLIP-seq
MIRT1458403	hsa-miR-3654	CLIP-seq
MIRT2137581	hsa-miR-371-5p	CLIP-seq
MIRT2137582	hsa-miR-371b-5p	CLIP-seq
MIRT2137583	hsa-miR-3924	CLIP-seq
MIRT2137584	hsa-miR-4271	CLIP-seq
MIRT2137585	hsa-miR-4274	CLIP-seq
MIRT2137586	hsa-miR-4487	CLIP-seq
MIRT2137587	hsa-miR-449b	CLIP-seq
MIRT2137588	hsa-miR-4502	CLIP-seq
MIRT2137589	hsa-miR-451b	CLIP-seq
MIRT2137590	hsa-miR-4667-5p	CLIP-seq
MIRT2137591	hsa-miR-4700-5p	CLIP-seq
MIRT2137592	hsa-miR-4725-3p	CLIP-seq
MIRT2137593	hsa-miR-4762-5p	CLIP-seq
MIRT2137594	hsa-miR-4775	CLIP-seq
MIRT2137595	hsa-miR-4796-5p	CLIP-seq
MIRT2137596	hsa-miR-556-5p	CLIP-seq
MIRT2137597	hsa-miR-558	CLIP-seq
MIRT1458431	hsa-miR-561	CLIP-seq
MIRT2137598	hsa-miR-590-3p	CLIP-seq
MIRT2137599	hsa-miR-604	CLIP-seq
MIRT2137600	hsa-miR-619	CLIP-seq
MIRT2137601	hsa-miR-622	CLIP-seq
MIRT2137602	hsa-miR-636	CLIP-seq
MIRT1458433	hsa-miR-641	CLIP-seq
MIRT2137603	hsa-miR-647	CLIP-seq
MIRT2137604	hsa-miR-668	CLIP-seq
MIRT2137605	hsa-miR-885-3p	CLIP-seq
MIRT2137606	hsa-miR-890	CLIP-seq
MIRT2358401	hsa-miR-1255a	CLIP-seq
MIRT2358402	hsa-miR-1255b	CLIP-seq
MIRT2358403	hsa-miR-15a	CLIP-seq
MIRT2358404	hsa-miR-15b	CLIP-seq
MIRT2358405	hsa-miR-16	CLIP-seq
MIRT2358406	hsa-miR-195	CLIP-seq
MIRT1458392	hsa-miR-2054	CLIP-seq
MIRT2137573	hsa-miR-2110	CLIP-seq
MIRT2358407	hsa-miR-3065-5p	CLIP-seq
MIRT2358408	hsa-miR-3120-3p	CLIP-seq
MIRT2358409	hsa-miR-3157-5p	CLIP-seq
MIRT2137577	hsa-miR-3160-3p	CLIP-seq
MIRT2137578	hsa-miR-34a	CLIP-seq
MIRT2137579	hsa-miR-34c-5p	CLIP-seq
MIRT1458401	hsa-miR-3613-5p	CLIP-seq
MIRT2137580	hsa-miR-3614-5p	CLIP-seq
MIRT2358410	hsa-miR-424	CLIP-seq
MIRT2137584	hsa-miR-4271	CLIP-seq
MIRT1458409	hsa-miR-4272	CLIP-seq
MIRT2137586	hsa-miR-4487	CLIP-seq
MIRT2137587	hsa-miR-449b	CLIP-seq
MIRT2358411	hsa-miR-4519	CLIP-seq
MIRT2358412	hsa-miR-4691-3p	CLIP-seq
MIRT2137592	hsa-miR-4725-3p	CLIP-seq
MIRT2358413	hsa-miR-4782-5p	CLIP-seq
MIRT2358414	hsa-miR-485-3p	CLIP-seq
MIRT2358415	hsa-miR-497	CLIP-seq
MIRT1458418	hsa-miR-548a-5p	CLIP-seq
MIRT1458419	hsa-miR-548ab	CLIP-seq
MIRT1458420	hsa-miR-548ak	CLIP-seq
MIRT1458421	hsa-miR-548b-5p	CLIP-seq
MIRT1458422	hsa-miR-548c-5p	CLIP-seq
MIRT1458423	hsa-miR-548d-5p	CLIP-seq
MIRT1458424	hsa-miR-548h	CLIP-seq
MIRT1458425	hsa-miR-548i	CLIP-seq
MIRT1458426	hsa-miR-548j	CLIP-seq
MIRT1458427	hsa-miR-548n	CLIP-seq
MIRT2358416	hsa-miR-548t	CLIP-seq
MIRT1458428	hsa-miR-548w	CLIP-seq
MIRT1458429	hsa-miR-548y	CLIP-seq
MIRT2358417	hsa-miR-549	CLIP-seq
MIRT2137596	hsa-miR-556-5p	CLIP-seq
MIRT2137597	hsa-miR-558	CLIP-seq
MIRT1458430	hsa-miR-559	CLIP-seq
MIRT2358418	hsa-miR-603	CLIP-seq
MIRT2137604	hsa-miR-668	CLIP-seq
MIRT2137606	hsa-miR-890	CLIP-seq
MIRT2651615	hsa-miR-124	CLIP-seq
MIRT2651616	hsa-miR-1291	CLIP-seq
MIRT2137571	hsa-miR-135a	CLIP-seq
MIRT2137572	hsa-miR-135b	CLIP-seq
MIRT2137574	hsa-miR-2113	CLIP-seq
MIRT2651617	hsa-miR-22	CLIP-seq
MIRT2358407	hsa-miR-3065-5p	CLIP-seq
MIRT2651618	hsa-miR-3150a-3p	CLIP-seq
MIRT2137577	hsa-miR-3160-3p	CLIP-seq
MIRT2651619	hsa-miR-3163	CLIP-seq
MIRT2651620	hsa-miR-3175	CLIP-seq
MIRT2651621	hsa-miR-3176	CLIP-seq
MIRT2651622	hsa-miR-328	CLIP-seq
MIRT2137578	hsa-miR-34a	CLIP-seq
MIRT2137579	hsa-miR-34c-5p	CLIP-seq
MIRT2651623	hsa-miR-3662	CLIP-seq
MIRT2651624	hsa-miR-3677-5p	CLIP-seq
MIRT2651625	hsa-miR-3922-3p	CLIP-seq
MIRT2137583	hsa-miR-3924	CLIP-seq
MIRT2651626	hsa-miR-3926	CLIP-seq
MIRT2651627	hsa-miR-4464	CLIP-seq
MIRT2137587	hsa-miR-449b	CLIP-seq
MIRT2651628	hsa-miR-4645-3p	CLIP-seq
MIRT2137590	hsa-miR-4667-5p	CLIP-seq
MIRT2137591	hsa-miR-4700-5p	CLIP-seq
MIRT2651629	hsa-miR-4748	CLIP-seq
MIRT2651630	hsa-miR-4776-3p	CLIP-seq
MIRT2137595	hsa-miR-4796-5p	CLIP-seq
MIRT2651631	hsa-miR-506	CLIP-seq
MIRT2651632	hsa-miR-548ac	CLIP-seq
MIRT2651633	hsa-miR-548ae	CLIP-seq
MIRT2651634	hsa-miR-548aj	CLIP-seq
MIRT2651635	hsa-miR-548am	CLIP-seq
MIRT2651636	hsa-miR-548an	CLIP-seq
MIRT2651637	hsa-miR-548d-3p	CLIP-seq
MIRT2651638	hsa-miR-548s	CLIP-seq
MIRT2651639	hsa-miR-548x	CLIP-seq
MIRT2651640	hsa-miR-548z	CLIP-seq
MIRT1458431	hsa-miR-561	CLIP-seq
MIRT2137599	hsa-miR-604	CLIP-seq
MIRT2651641	hsa-miR-624	CLIP-seq
MIRT2137603	hsa-miR-647	CLIP-seq
MIRT2137604	hsa-miR-668	CLIP-seq
MIRT2651642	hsa-miR-939	CLIP-seq
MIRT2651615	hsa-miR-124	CLIP-seq
MIRT2137569	hsa-miR-1264	CLIP-seq
MIRT2651616	hsa-miR-1291	CLIP-seq
MIRT2137571	hsa-miR-135a	CLIP-seq
MIRT2137572	hsa-miR-135b	CLIP-seq
MIRT2694288	hsa-miR-186	CLIP-seq
MIRT2137574	hsa-miR-2113	CLIP-seq
MIRT2651617	hsa-miR-22	CLIP-seq
MIRT2358407	hsa-miR-3065-5p	CLIP-seq
MIRT2694289	hsa-miR-3133	CLIP-seq
MIRT2137576	hsa-miR-3140-3p	CLIP-seq
MIRT2651618	hsa-miR-3150a-3p	CLIP-seq
MIRT2137577	hsa-miR-3160-3p	CLIP-seq
MIRT2651619	hsa-miR-3163	CLIP-seq
MIRT2651620	hsa-miR-3175	CLIP-seq
MIRT2651621	hsa-miR-3176	CLIP-seq
MIRT2651622	hsa-miR-328	CLIP-seq
MIRT2137578	hsa-miR-34a	CLIP-seq
MIRT2137579	hsa-miR-34c-5p	CLIP-seq
MIRT2694290	hsa-miR-3620	CLIP-seq
MIRT2694291	hsa-miR-3653	CLIP-seq
MIRT2694292	hsa-miR-3658	CLIP-seq
MIRT2651623	hsa-miR-3662	CLIP-seq
MIRT2651624	hsa-miR-3677-5p	CLIP-seq
MIRT2651625	hsa-miR-3922-3p	CLIP-seq
MIRT2137583	hsa-miR-3924	CLIP-seq
MIRT2651626	hsa-miR-3926	CLIP-seq
MIRT2694293	hsa-miR-4428	CLIP-seq
MIRT2651627	hsa-miR-4464	CLIP-seq
MIRT2694294	hsa-miR-448	CLIP-seq
MIRT2137586	hsa-miR-4487	CLIP-seq
MIRT2137587	hsa-miR-449b	CLIP-seq
MIRT2137589	hsa-miR-451b	CLIP-seq
MIRT2137590	hsa-miR-4667-5p	CLIP-seq
MIRT2137591	hsa-miR-4700-5p	CLIP-seq
MIRT2651629	hsa-miR-4748	CLIP-seq
MIRT2137594	hsa-miR-4775	CLIP-seq
MIRT2651630	hsa-miR-4776-3p	CLIP-seq
MIRT2137595	hsa-miR-4796-5p	CLIP-seq
MIRT2694295	hsa-miR-495	CLIP-seq
MIRT2651631	hsa-miR-506	CLIP-seq
MIRT2651632	hsa-miR-548ac	CLIP-seq
MIRT2651633	hsa-miR-548ae	CLIP-seq
MIRT2651634	hsa-miR-548aj	CLIP-seq
MIRT2651635	hsa-miR-548am	CLIP-seq
MIRT2651636	hsa-miR-548an	CLIP-seq
MIRT2651637	hsa-miR-548d-3p	CLIP-seq
MIRT2651638	hsa-miR-548s	CLIP-seq
MIRT2651639	hsa-miR-548x	CLIP-seq
MIRT2651640	hsa-miR-548z	CLIP-seq
MIRT2137596	hsa-miR-556-5p	CLIP-seq
MIRT2137597	hsa-miR-558	CLIP-seq
MIRT1458431	hsa-miR-561	CLIP-seq
MIRT2694296	hsa-miR-577	CLIP-seq
MIRT2137598	hsa-miR-590-3p	CLIP-seq
MIRT2137599	hsa-miR-604	CLIP-seq
MIRT2137603	hsa-miR-647	CLIP-seq
MIRT2137605	hsa-miR-885-3p	CLIP-seq
MIRT2651642	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
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:0090305	Process	Nucleic acid phosphodiester bond hydrolysis	IEA

Other IDs

• MIM: 608756
• HGNC: 16791
• e!Ensembl: ENSG00000198860

Protein

• UniProt ID: Q8WW01
• Protein name: tRNA-splicing endonuclease subunit Sen15 (SEN15 homolog) (HsSEN15) (tRNA-intron endonuclease Sen15)
• Protein function: Non-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 intron. The products are an
• PDB: 2GW6, 6Z9U, 7UXA, 7ZRZ, 8HMY, 8HMZ, 8ISS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09631	Sen15	65 → 166	Sen15 protein	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Highly expressed in testis and uterus. {ECO:0000269|PubMed:11318611}.
• Sequence:

  MEERGDSEPTPGCSGLGPGGVRGFGDGGGAPSWAPEDAWMGTHPKYLEMMELDIGDATQV
  YVAFLVYLDLMESKSWHEVNCVGLPELQLICLVGTEIEGEGLQTVVPTPITASLSHNRIR
  EILKASRKLQGDPDLPMSFTLAIVESDSTIVYYKLTDGFMLPDPQNISLRR

• Sequence length: 171

Pathways

Reactome:

tRNA processing in the nucleus

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	25558065
Epilepsy	Epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532
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	25558065
Pontoneocerebellar hypoplasia	Pontocerebellar Hypoplasia Type 2, PONTOCEREBELLAR HYPOPLASIA, TYPE 2F, Pontocerebellar hypoplasia type 2	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	27392077, 25558065
Microcephaly	Primary 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

Unknown
Disease term	Disease name	Evidence	References	Source
Diabetes	Diabetes			GWAS
Osteoarthritis Of Hip	Osteoarthritis Of Hip			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Atrial Fibrillation	Associate	24944287
Developmental Disabilities	Associate	27392077
Epilepsy	Associate	27392077
Growth Disorders	Associate	28744006
Intellectual Disability	Associate	27392077
Microcephaly	Associate	27392077
Osteoarthritis	Associate	37208701
Pontocerebellar Hypoplasia	Associate	27392077
Pontocerebellar Hypoplasia Type 2A	Associate	27392077