WRN (WRN RecQ like helicase)

Gene

• Entrez ID: 7486
• Gene name: WRN RecQ like helicase
• Gene symbol: WRN
• Synonyms (NCBI Gene): RECQ3, RECQL2, RECQL3
• Chromosome: 8
• Chromosome location: 8p12
• Summary: This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein co

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs4987238	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs17847577	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs34084741	G>A	Not-provided, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs34477820	A>G	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs78488552	C>G	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs113993961	G>C	Not-provided, pathogenic	Splice acceptor variant
rs121908446	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121908447	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121908448	A>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs139323683	C>T	Not-provided, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs140768346	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs142614369	C>A,G,T	Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs143916053	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs144116311	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs145764920	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs148286708	C>A,T	Not-provided, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs150148567	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs191757062	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs267607008	A>G	Pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs281865157	A>C,G	Pathogenic	Intron variant
rs281865158	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs281865159	A>C	Pathogenic	Splice acceptor variant
rs281865160	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs369158322	A>C,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs370324188	C>T	Pathogenic	Genic upstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs371538747	T>A,C,G	Pathogenic, uncertain-significance	Genic upstream transcript variant, non coding transcript variant, stop gained, synonymous variant, missense variant, coding sequence variant
rs371720457	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs373806031	C>G,T	Pathogenic, likely-benign	Genic upstream transcript variant, non coding transcript variant, stop gained, synonymous variant, 5 prime UTR variant, coding sequence variant
rs387906337	A>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs587776621	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs606231162	AGAC>-	Pathogenic	Splice acceptor variant, non coding transcript variant, coding sequence variant
rs747226837	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, synonymous variant
rs747319628	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs747587698	->G	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs748484883	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs748618811	G>A	Likely-pathogenic	Splice donor variant
rs748860208	AACA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs752465293	G>T	Likely-pathogenic	Splice acceptor variant
rs752830087	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs755729832	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs757808169	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs758988621	G>A	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs759972548	AG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs763089663	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs767115441	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs772319506	T>G	Likely-pathogenic	Splice donor variant
rs774765029	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs775802030	A>G	Pathogenic	Synonymous variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs776785728	AA>-	Pathogenic	Frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs776963381	G>A,T	Likely-pathogenic	Splice acceptor variant
rs777096501	G>A,T	Likely-pathogenic	Splice donor variant
rs778872619	A>-,AA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs779012596	G>T	Pathogenic	Stop gained, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs780555196	C>-	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs794727200	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs797045118	GA>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs878854131	A>-	Likely-benign, pathogenic-likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs878854133	A>-,AA	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs878854136	->AT	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1170732591	G>A	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice acceptor variant
rs1198210848	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1244318419	AACA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1281075870	G>A,T	Likely-pathogenic	Splice donor variant
rs1284409960	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1303126572	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1339616347	G>A,T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1361270203	->CT	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1383589957	AC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1389340786	TGAA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1413656527	G>T	Pathogenic	Splice donor variant
rs1455462438	T>C	Likely-pathogenic	Intron variant, splice donor variant, genic upstream transcript variant
rs1554519254	->AA	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs1554519449	GGTA>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant, genic upstream transcript variant, non coding transcript variant
rs1554526707	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1554527775	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554528411	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554530901	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1563329555	C>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs1563331288	T>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, non coding transcript variant
rs1563338837	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, non coding transcript variant
rs1563338855	GA>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs1563341296	A>G	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice acceptor variant
rs1563357741	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1563376347	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1563376526	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1563376793	G>C	Likely-pathogenic	Splice donor variant
rs1563382597	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1563385391	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1585411632	CA>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs1585427471	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs1585427710	->GAGT	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs1585440064	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs1585449207	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1585455586	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1585478303	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1585478331	CTG>TT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1585483030	A>C	Likely-pathogenic	Splice acceptor variant
rs1585483312	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1585517902	AAGGTACAGAGTTCCATATTTCTATGTTCTATACTTGCTTTATGAGTACTTTTTTTTCTAAAGAGAAAGAACTGTCAGA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, splice donor variant
rs1585521874	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1585536813	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT723949	hsa-miR-5003-3p	HITS-CLIP	19536157
MIRT723948	hsa-miR-3928-3p	HITS-CLIP	19536157
MIRT490221	hsa-miR-766-5p	HITS-CLIP	19536157
MIRT723947	hsa-miR-7154-3p	HITS-CLIP	19536157
MIRT490220	hsa-miR-765	HITS-CLIP	19536157
MIRT723946	hsa-miR-6894-5p	HITS-CLIP	19536157
MIRT723945	hsa-miR-7847-3p	HITS-CLIP	19536157
MIRT697645	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT697644	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT697643	hsa-miR-5582-5p	HITS-CLIP	23313552
MIRT697642	hsa-miR-3622a-5p	HITS-CLIP	23313552
MIRT697641	hsa-miR-1295b-3p	HITS-CLIP	23313552
MIRT697640	hsa-miR-500b-3p	HITS-CLIP	23313552
MIRT697639	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT697638	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT697637	hsa-miR-4423-3p	HITS-CLIP	23313552
MIRT697636	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT648400	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT648399	hsa-miR-3617-3p	HITS-CLIP	23824327
MIRT648397	hsa-miR-4310	HITS-CLIP	23824327
MIRT648398	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT648396	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT648395	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT560963	hsa-miR-4311	PAR-CLIP	20371350
MIRT560962	hsa-miR-5197-3p	PAR-CLIP	20371350
MIRT560961	hsa-miR-3125	PAR-CLIP	20371350
MIRT560960	hsa-miR-3916	PAR-CLIP	20371350
MIRT560959	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT490224	hsa-miR-3185	PAR-CLIP	20371350
MIRT560958	hsa-miR-6077	PAR-CLIP	20371350
MIRT496927	hsa-miR-4709-3p	PAR-CLIP	22291592
MIRT490228	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT490227	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT490225	hsa-miR-4476	PAR-CLIP	23592263
MIRT490226	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT490224	hsa-miR-3185	PAR-CLIP	23592263
MIRT490223	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT490222	hsa-miR-4533	PAR-CLIP	23592263
MIRT490221	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT490220	hsa-miR-765	PAR-CLIP	23592263
MIRT463847	hsa-miR-224-5p	PAR-CLIP	23592263
MIRT463846	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT463845	hsa-miR-3664-5p	PAR-CLIP	23592263
MIRT463844	hsa-miR-4464	PAR-CLIP	23592263
MIRT463842	hsa-miR-4748	PAR-CLIP	23592263
MIRT463843	hsa-miR-329-5p	PAR-CLIP	23592263
MIRT463841	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT463840	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT463838	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT463839	hsa-miR-4717-3p	PAR-CLIP	23592263
MIRT463837	hsa-miR-597-5p	PAR-CLIP	23592263
MIRT463836	hsa-miR-592	PAR-CLIP	23592263
MIRT723949	hsa-miR-5003-3p	HITS-CLIP	19536157
MIRT723948	hsa-miR-3928-3p	HITS-CLIP	19536157
MIRT490221	hsa-miR-766-5p	HITS-CLIP	19536157
MIRT723947	hsa-miR-7154-3p	HITS-CLIP	19536157
MIRT490220	hsa-miR-765	HITS-CLIP	19536157
MIRT723946	hsa-miR-6894-5p	HITS-CLIP	19536157
MIRT723945	hsa-miR-7847-3p	HITS-CLIP	19536157
MIRT697645	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT697644	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT697643	hsa-miR-5582-5p	HITS-CLIP	23313552
MIRT697642	hsa-miR-3622a-5p	HITS-CLIP	23313552
MIRT697641	hsa-miR-1295b-3p	HITS-CLIP	23313552
MIRT697640	hsa-miR-500b-3p	HITS-CLIP	23313552
MIRT697639	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT697638	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT697637	hsa-miR-4423-3p	HITS-CLIP	23313552
MIRT697636	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT648400	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT648399	hsa-miR-3617-3p	HITS-CLIP	23824327
MIRT648397	hsa-miR-4310	HITS-CLIP	23824327
MIRT648398	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT648396	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT648395	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT560963	hsa-miR-4311	PAR-CLIP	20371350
MIRT560962	hsa-miR-5197-3p	PAR-CLIP	20371350
MIRT560961	hsa-miR-3125	PAR-CLIP	20371350
MIRT560960	hsa-miR-3916	PAR-CLIP	20371350
MIRT560959	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT490224	hsa-miR-3185	PAR-CLIP	20371350
MIRT560958	hsa-miR-6077	PAR-CLIP	20371350
MIRT496927	hsa-miR-4709-3p	PAR-CLIP	22291592
MIRT490228	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT490227	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT490225	hsa-miR-4476	PAR-CLIP	23592263
MIRT490226	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT490224	hsa-miR-3185	PAR-CLIP	23592263
MIRT490223	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT490222	hsa-miR-4533	PAR-CLIP	23592263
MIRT490221	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT490220	hsa-miR-765	PAR-CLIP	23592263
MIRT463847	hsa-miR-224-5p	PAR-CLIP	23592263
MIRT463846	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT463845	hsa-miR-3664-5p	PAR-CLIP	23592263
MIRT463844	hsa-miR-4464	PAR-CLIP	23592263
MIRT463842	hsa-miR-4748	PAR-CLIP	23592263
MIRT463843	hsa-miR-329-5p	PAR-CLIP	23592263
MIRT463841	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT463840	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT463838	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT463839	hsa-miR-4717-3p	PAR-CLIP	23592263
MIRT463837	hsa-miR-597-5p	PAR-CLIP	23592263
MIRT463836	hsa-miR-592	PAR-CLIP	23592263
MIRT1494087	hsa-miR-130a	CLIP-seq
MIRT1494088	hsa-miR-130b	CLIP-seq
MIRT1494089	hsa-miR-136	CLIP-seq
MIRT1494090	hsa-miR-301a	CLIP-seq
MIRT1494091	hsa-miR-301b	CLIP-seq
MIRT1494092	hsa-miR-3135	CLIP-seq
MIRT1494093	hsa-miR-3163	CLIP-seq
MIRT1494094	hsa-miR-3666	CLIP-seq
MIRT1494095	hsa-miR-410	CLIP-seq
MIRT1494096	hsa-miR-4295	CLIP-seq
MIRT1494097	hsa-miR-4422	CLIP-seq
MIRT1494098	hsa-miR-454	CLIP-seq
MIRT1494099	hsa-miR-4671-3p	CLIP-seq
MIRT1494100	hsa-miR-4700-3p	CLIP-seq
MIRT1494101	hsa-miR-4735-5p	CLIP-seq
MIRT1494102	hsa-miR-4774-3p	CLIP-seq
MIRT1494103	hsa-miR-4778-5p	CLIP-seq
MIRT1494104	hsa-miR-4789-5p	CLIP-seq
MIRT1494105	hsa-miR-5095	CLIP-seq
MIRT1494106	hsa-miR-550b	CLIP-seq
MIRT1494107	hsa-miR-568	CLIP-seq
MIRT1494108	hsa-miR-600	CLIP-seq
MIRT1494109	hsa-miR-889	CLIP-seq
MIRT1494089	hsa-miR-136	CLIP-seq
MIRT2148881	hsa-miR-4307	CLIP-seq
MIRT2148882	hsa-miR-4666-5p	CLIP-seq
MIRT1494087	hsa-miR-130a	CLIP-seq
MIRT1494088	hsa-miR-130b	CLIP-seq
MIRT1494089	hsa-miR-136	CLIP-seq
MIRT1494090	hsa-miR-301a	CLIP-seq
MIRT1494091	hsa-miR-301b	CLIP-seq
MIRT1494092	hsa-miR-3135	CLIP-seq
MIRT1494094	hsa-miR-3666	CLIP-seq
MIRT2369236	hsa-miR-4277	CLIP-seq
MIRT1494096	hsa-miR-4295	CLIP-seq
MIRT1494098	hsa-miR-454	CLIP-seq
MIRT1494099	hsa-miR-4671-3p	CLIP-seq
MIRT1494100	hsa-miR-4700-3p	CLIP-seq
MIRT1494101	hsa-miR-4735-5p	CLIP-seq
MIRT1494102	hsa-miR-4774-3p	CLIP-seq
MIRT1494103	hsa-miR-4778-5p	CLIP-seq
MIRT1494104	hsa-miR-4789-5p	CLIP-seq
MIRT1494105	hsa-miR-5095	CLIP-seq
MIRT1494108	hsa-miR-600	CLIP-seq
MIRT1494109	hsa-miR-889	CLIP-seq
MIRT2662955	hsa-miR-3653	CLIP-seq
MIRT2662956	hsa-miR-3658	CLIP-seq
MIRT2662957	hsa-miR-4511	CLIP-seq
MIRT2662958	hsa-miR-4645-3p	CLIP-seq
MIRT2662959	hsa-miR-4778-3p	CLIP-seq
MIRT2662960	hsa-miR-548ac	CLIP-seq
MIRT2662961	hsa-miR-548ae	CLIP-seq
MIRT2662962	hsa-miR-548aj	CLIP-seq
MIRT2662963	hsa-miR-548am	CLIP-seq
MIRT2662964	hsa-miR-548b-3p	CLIP-seq
MIRT2662965	hsa-miR-548d-3p	CLIP-seq
MIRT2662966	hsa-miR-548x	CLIP-seq
MIRT2662967	hsa-miR-548z	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MYC	Activation	12842909
RB1	Unknown	11896071
SIRT1	Repression	17996922
SP1	Unknown	11896071
TP53	Repression	11427532

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IDA	16622405
GO:0000400	Function	Four-way junction DNA binding	IDA	11735402
GO:0000403	Function	Y-form DNA binding	IDA	11735402, 17715146, 26420422
GO:0000405	Function	Bubble DNA binding	IDA	11433031, 11735402
GO:0000723	Process	Telomere maintenance	IBA	21873635
GO:0000723	Process	Telomere maintenance	IMP	18212065
GO:0000723	Process	Telomere maintenance	TAS	25801465
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA	21873635
GO:0000731	Process	DNA synthesis involved in DNA repair	IDA	17563354
GO:0000781	Component	Chromosome, telomeric region	IDA	15200954, 26420422
GO:0003677	Function	DNA binding	IDA	9288107
GO:0003678	Function	DNA helicase activity	IDA	9288107, 12944467, 15200954, 19734539, 26420422
GO:0003678	Function	DNA helicase activity	IMP	10871376
GO:0003682	Function	Chromatin binding	IEA
GO:0004386	Function	Helicase activity	IDA	12181313
GO:0004527	Function	Exonuclease activity	IDA	12944467
GO:0004527	Function	Exonuclease activity	IMP	15200954
GO:0005515	Function	Protein binding	IPI	10373438, 10783163, 11328876, 11427532, 11598021, 11919194, 12181313, 12750383, 14596914, 14657243, 14688284, 14734561, 15735006, 15965237, 16030011, 17498979, 17611195, 17715146, 17961633, 18203716, 19343720, 21639834, 24126761, 25931448, 26496610, 28514442
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA	11420665, 12944467, 17498979, 21639834, 25801465
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	ISS
GO:0005694	Component	Chromosome	IBA	21873635
GO:0005730	Component	Nucleolus	IDA	9618508, 11420665, 12181313, 12944467, 15200954, 17498979, 21639834, 25801465
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005813	Component	Centrosome	IDA	17498979
GO:0006259	Process	DNA metabolic process	IDA	16622405
GO:0006260	Process	DNA replication	IMP	12882351
GO:0006260	Process	DNA replication	ISS
GO:0006260	Process	DNA replication	TAS
GO:0006268	Process	DNA unwinding involved in DNA replication	IBA	21873635
GO:0006281	Process	DNA repair	IBA	21873635
GO:0006284	Process	Base-excision repair	IDA	17611195
GO:0006302	Process	Double-strand break repair	IMP	21639834
GO:0006310	Process	DNA recombination	IBA	21873635
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	18203716
GO:0006979	Process	Response to oxidative stress	IDA	17611195
GO:0007420	Process	Brain development	IEA
GO:0007568	Process	Aging	NAS	9288107
GO:0007569	Process	Cell aging	IMP	18212065
GO:0008408	Function	3'-5' exonuclease activity	IDA	10783163, 10871373, 12181313, 16622405
GO:0009267	Process	Cellular response to starvation	IDA	11420665
GO:0009378	Function	Four-way junction helicase activity	IBA	21873635
GO:0009378	Function	Four-way junction helicase activity	IDA	11433031, 11735402
GO:0010225	Process	Response to UV-C	IDA	17563354
GO:0010259	Process	Multicellular organism aging	IBA	21873635
GO:0010259	Process	Multicellular organism aging	IMP	16673358
GO:0016607	Component	Nuclear speck	IDA
GO:0016887	Function	ATPase activity	IDA	10373438, 10871376
GO:0030145	Function	Manganese ion binding	IDA	16622405
GO:0031297	Process	Replication fork processing	IDA	17115688
GO:0031297	Process	Replication fork processing	IMP	12882351
GO:0032405	Function	MutLalpha complex binding	IDA	17715146
GO:0032508	Process	DNA duplex unwinding	IBA	21873635
GO:0032508	Process	DNA duplex unwinding	IDA	11735402, 26420422
GO:0040009	Process	Regulation of growth rate	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	10783163
GO:0042981	Process	Regulation of apoptotic process	IGI	9681877
GO:0043005	Component	Neuron projection	IEA
GO:0043138	Function	3'-5' DNA helicase activity	IBA	21873635
GO:0043138	Function	3'-5' DNA helicase activity	IDA	17715146
GO:0044806	Process	G-quadruplex DNA unwinding	IBA	21873635
GO:0044806	Process	G-quadruplex DNA unwinding	IDA	11735402
GO:0044806	Process	G-quadruplex DNA unwinding	ISS
GO:0044877	Function	Protein-containing complex binding	IDA	10783163
GO:0051345	Process	Positive regulation of hydrolase activity	IDA	17611195
GO:0051880	Function	G-quadruplex DNA binding	IDA	11433031, 11735402
GO:0061749	Function	Forked DNA-dependent helicase activity	IDA	11735402
GO:0061820	Process	Telomeric D-loop disassembly	IDA	15200954, 19734539, 26420422
GO:0061820	Process	Telomeric D-loop disassembly	IGI	22039056
GO:0061820	Process	Telomeric D-loop disassembly	TAS	22039056
GO:0061821	Function	Telomeric D-loop binding	IDA	19734539, 26420422
GO:0061849	Function	Telomeric G-quadruplex DNA binding	IC	19734539
GO:0070337	Function	3'-flap-structured DNA binding	IDA	26420422
GO:0071480	Process	Cellular response to gamma radiation	IDA	21639834
GO:0090305	Process	Nucleic acid phosphodiester bond hydrolysis	IEA
GO:0090399	Process	Replicative senescence	IEA
GO:0090656	Process	T-circle formation	TAS	27918544
GO:0098530	Process	Positive regulation of strand invasion	IDA	26420422
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1902570	Process	Protein localization to nucleolus	IDA	11420665
GO:1905773	Function	8-hydroxy-2'-deoxyguanosine DNA binding	IDA	19734539

Other IDs

• MIM: 604611
• HGNC: 12791
• e!Ensembl: ENSG00000165392

Protein

• UniProt ID: Q14191
• Protein name: Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN (DNA helicase, RecQ-like type 3) (RecQ protein-like 2) (Werner syndrome protein) [Includes: 3'-5' exonuclease (EC 3.1.-.-); ATP-dependent helicase (EC 5.6.2.4) (DNA 3'-5' helicase WRN)]
• Protein function: Multifunctional enzyme that has magnesium and ATP-dependent 3'-5' DNA-helicase activity on partially duplex substrates (PubMed:9224595, PubMed:9288107, PubMed:9611231). Also has 3'->5' exonuclease activity towards double-stranded (ds)DNA with a
• PDB: 2AXL, 2DGZ, 2E1E, 2E1F, 2FBT, 2FBV, 2FBX, 2FBY, 2FC0, 3AAF, 6TYV, 6YHR, 7GQS, 7GQT, 7GQU, 7XUT, 8PFL, 8PFO, 8PFP, 8YLE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01612	DNA_pol_A_exo1	57 → 230		Domain
  PF00270	DEAD	550 → 713	DEAD/DEAH box helicase	Domain
  PF00271	Helicase_C	748 → 859	Helicase conserved C-terminal domain	Family
  PF16124	RecQ_Zn_bind	870 → 940	RecQ zinc-binding	Domain
  PF09382	RQC	953 → 1066	RQC domain	Domain
  PF00570	HRDC	1153 → 1219	HRDC domain	Domain
  PF14493	HTH_40	1258 → 1352	Helix-turn-helix domain	Domain

• Sequence:

  MSEKKLETTAQQRKCPEWMNVQNKRCAVEERKACVRKSVFEDDLPFLEFTGSIVYSYDAS
  DCSFLSEDISMSLSDGDVVGFDMEWPPLYNRGKLGKVALIQLCVSESKCYLFHVSSMSVF
  PQGLKMLLENKAVKKAGVGIEGDQWKLLRDFDIKLKNFVELTDVANKKLKCTETWSLNSL
  VKHLLGKQLLKDKSIRCSNWSKFPLTEDQKLYAATDAYAGFIIYRNLEILDDTVQRFAIN
  KEEEILLSDMNKQLTSISEEVMDLAKHLPHAFSKLENPRRVSILLKDISENLYSLRRMII
  GSTNIETELRPSNNLNLLSFEDSTTGGVQQKQIREHEVLIHVEDETWDPTLDHLAKHDGE
  DVLGNKVERKEDGFEDGVEDNKLKENMERACLMSLDITEHELQILEQQSQEEYLSDIAYK
  STEHLSPNDNENDTSYVIESDEDLEMEMLKHLSPNDNENDTSYVIESDEDLEMEMLKSLE
  NLNSGTVEPTHSKCLKMERNLGLPTKEEEEDDENEANEGEEDDDKDFLWPAPNEEQVTCL
  KMYFGHSSFKPVQWKVIHSVLEERRDNVAVMATGYGKSLCFQYPPVYVGKIGLVISPLIS
  LMEDQVLQLKMSNIPACFLGSAQSENVLTDIKLGKYRIVYVTPEYCSGNMGLLQQLEADI
  GITLIAVDEAHCISEWGHDFRDSFRKLGSLKTALPMVPIVALTATASSSIREDIVRCLNL
  RNPQITCTGFDRPNLYLEVRRKTGNILQDLQPFLVKTSSHWEFEGPTIIYCPSRKMTQQV
  TGELRKLNLSCGTYHAGMSFSTRKDIHHRFVRDEIQCVIATIAFGMGINKADIRQVIHYG
  APKDMESYYQEIGRAGRDGLQSSCHVLWAPADINLNRHLLTEIRNEKFRLYKLKMMAKME
  KYLHSSRCRRQIILSHFEDKQVQKASLGIMGTEKCCDNCRSRLDHCYSMDDSEDTSWDFG
  PQAFKLLSAVDILGEKFGIGLPILFLRGSNSQRLADQYRRHSLFGTGKDQTESWWKAFSR
  QLITEGFLVEVSRYNKFMKICALTKKGRNWLHKANTESQSLILQANEELCPKKLLLPSSK
  TVSSGTKEHCYNQVPVELSTEKKSNLEKLYSYKPCDKISSGSNISKKSIMVQSPEKAYSS
  SQPVISAQEQETQIVLYGKLVEARQKHANKMDVPPAILATNKILVDMAKMRPTTVENVKR
  IDGVSEGKAAMLAPLLEVIKHFCQTNSVQTDLFSSTKPQEEQKTSLVAKNKICTLSQSMA
  ITYSLFQEKKMPLKSIAESRILPLMTIGMHLSQAVKAGCPLDLERAGLTPEVQKIIADVI
  RNPPVNSDMSKISLIRMLVPENIDTYLIHMAIEILKHGPDSGLQPSCDVNKRRCFPGSEE
  ICSSSKRSKEEVGINTETSSAERKRRLPVWFAKGSDTSKKLMDKTKRGGLFS

• Sequence length: 1432

Pathways

Reactome:

Processive synthesis on the C-strand of the telomere
Removal of the Flap Intermediate from the C-strand
SUMOylation of DNA damage response and repair proteins
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
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
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Chondrocalcinosis	Calcium pyrophosphate deposition disease	rs121908405, rs28939080, rs121908407, rs2126640512, rs121908408, rs121908409, rs121908410
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Diabetes mellitus	Diabetes Mellitus, Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hypertension	Hypertensive disease	rs13306026
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Lipodystrophy	Lipodystrophy	rs553668, rs766817317
Medulloblastoma	Medulloblastoma	rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009
Meningioma	Meningioma	rs587776563, rs121434259, rs387906857, rs397509405, rs797045990, rs876659443, rs878854603, rs1057518166, rs1060501395, rs1554897280, rs1554898242, rs1555605347, rs587782187, rs1555605750, rs878853937, rs1589596143, rs2037146593, rs2037146907
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Sarcoma	Sarcoma	rs11540652, rs104886003, rs137852790, rs1555927374
Werner syndrome	Werner Syndrome, Werner syndrome	rs121908446, rs121908447, rs606231162, rs113993961, rs587776621, rs17847577, rs369158322, rs121908448, rs281865157, rs281865160, rs775802030, rs797045118, rs878854133, rs878854131, rs878854136, rs747319628, rs776785728, rs774765029, rs370324188, rs371538747, rs1383589957, rs761240520, rs759972548, rs758988621, rs776963381, rs1284409960, rs747587698, rs1554526707, rs1339616347, rs1554519449, rs1554519254, rs1361270203, rs777096501, rs1554527775, rs143916053, rs763089663, rs1554528411, rs1198210848, rs1244318419, rs1563376347, rs1563376526, rs778872619, rs1563382597, rs752830087, rs1563341296, rs748860208, rs754208761, rs1563331288, rs757808169, rs1563357741, rs1303126572, rs1563338837, rs1563338855, rs1563376793, rs1281075870, rs1563385391, rs780555196, rs1563376595, rs1563351045, rs373806031, rs1585411632, rs1585427471, rs779012596, rs1585427710, rs1389340786, rs1585440064, rs1585449207, rs1585455586, rs1585478303, rs1585478331, rs748484883, rs1585483312, rs371720457, rs1585521874, rs1585536813, rs1455462438, rs751015040, rs1585517902, rs1585483030, rs1413656527, rs748618811, rs752465293, rs1170732591, rs1812611533, rs746445847, rs751969803, rs1813725603, rs1814195192, rs1801328287, rs1801522729, rs1801678807, rs1802623856, rs1288018118, rs1802694719, rs1803078438, rs762379051, rs1047229701, rs759685032, rs780988648, rs775196937, rs1300106191	18810497, 8968742, 25182132, 22188495, 16786514, 8602509, 15235603, 16673358, 10347997, 9012406, 10440702, 20443122, 9048918, 8641691, 28338660, 10757812, 15888165, 25390333, 10543396, 22766507, 9225981, 10628995, 10678659, 21267443

Unknown
Disease term	Disease name	Evidence	References	Source
Atherosclerosis	Atherosclerosis			ClinVar
Congestive heart failure	Congestive heart failure			ClinVar
Myocardial infarction	Myocardial Infarction			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Abortion Habitual	Associate	23849162
Acute Retroviral Syndrome	Associate	17317667
Adenocarcinoma Mucinous	Associate	18084250
Adenocarcinoma of Lung	Associate	21151896
Adenomatous Polyposis Coli	Associate	39519399
Aging Premature	Associate	15026416, 17317667, 17717003, 18398454, 20447876, 20451470, 21107010, 21220316, 22351772, 22713343, 23257959, 23650516, 26455304, 26690424, 27672210, 35751457
Alternating hemiplegia of childhood	Associate	24709898
Alzheimer Disease	Associate	26394601
Ataxia	Associate	18596239
Ataxia Telangiectasia	Associate	18209099, 23867477
Atherosclerosis	Associate	17317667
Bloom Syndrome	Associate	11399766, 11433031, 11741924, 11919194, 15899892, 15965237, 16030011, 16287861, 16288211, 16326861, 16412221, 18504617, 19567405, 19966276, 20447876, 20663905, 22576367, 23161009, 23650516, 32367056, 8913739, 9671747
Bloom Syndrome	Inhibit	21736299
Breast Neoplasms	Associate	26690424, 26959889, 27449045, 27571987, 33413557, 37628631
Carcinogenesis	Associate	12842909, 21267443, 22173703
Carcinoma Hepatocellular	Associate	21410269, 29209123
Cardiovascular Diseases	Associate	16007276, 18312663
Cataract	Associate	16673358, 23334603, 23849162, 34564935
Cataract Age Related Nuclear	Associate	23334603, 29689049
Cataract Nuclear Progressive	Associate	23849162
Chromosomal Instability	Associate	19567405
Chromosome Aberrations	Inhibit	21107010
Chromosome Aberrations	Associate	21267443
Chromosome Disorders	Associate	17449919
Chromosome Fragility	Inhibit	25352544
Colorectal Neoplasms	Associate	18084250, 19002263, 24308539, 25355595, 26344056, 27121793, 33837064, 37828981
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	11027336
Cutis Laxa Autosomal Recessive Type IIB	Associate	27859906, 32320127
Dementia	Associate	16007276
Depressive Disorder	Associate	16007276
Diabetes Mellitus	Associate	33087645, 34564935, 35780059, 37815015
Diabetic Foot	Associate	35909544
Disease	Associate	26690424
DNA Virus Infections	Associate	16287861, 30065307
Drug Related Side Effects and Adverse Reactions	Associate	17875398, 19064679, 25228686
Endometrial Neoplasms	Associate	36745477
Esophageal Neoplasms	Associate	22173703
Familial cylindromatosis	Associate	33826001
Fibrosis	Associate	28795391
Genetic Diseases Inborn	Associate	10446247, 24626809, 26241669, 26455304
Genomic Instability	Associate	27672210
Glioma	Associate	36745477
Hereditary Breast and Ovarian Cancer Syndrome	Associate	31882575
Histiocytoma Malignant Fibrous	Associate	18271933
Hyperlipidemias	Associate	33087645
Immunologic Deficiency Syndromes	Associate	35751457
Insulin Resistance	Associate	23849162, 32367056
Intestinal Diseases	Associate	31937549
Leiomyoma of vulva and esophagus	Associate	36745477
Leukemia Lymphoma Adult T Cell	Associate	27829440
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	18524993
Leukemia Myeloid Accelerated Phase	Associate	39408822
Lipodystrophy	Associate	23849162, 35780059
Lung Diseases	Associate	33225619
Lymphoma Follicular	Associate	25178586
Lymphoma Non Hodgkin	Inhibit	24756092
Macular Edema	Associate	24620826
Margins of Excision	Associate	18398454
Melanoma	Associate	35085295
Melanoma Cutaneous Malignant	Associate	19626699
Meningioma	Associate	32415031
Microsatellite Instability	Associate	18084250, 30910006, 32999459, 33199508, 33837064, 36541070
Microsatellite Instability	Inhibit	21107010
Myelodysplastic Syndromes	Associate	35909544
Myopathy with Giant Abnormal Mitochondria	Associate	33054770
Necrosis	Associate	17875398
Neoplasm Metastasis	Associate	33477997
Neoplasms	Associate	10506209, 11427532, 11919194, 12842909, 15084309, 15498034, 16007276, 16503984, 17015833, 17317667, 17717003, 17875398, 18084250, 18250621, 18504617, 18583366, 18852298, 19283071, 20451470, 21107010, 21220316, 21267443, 22351772, 22713343, 23161009, 23650516, 23933816, 24036544, 26241669, 26455304, 26690424, 26959889, 27084275, 27411922, 27571987, 27764811, 27859906, 29064820, 30703342, 30910006, 31462559, 31882575, 32999459, 33054770, 35751457, 36520636, 36541070, 36745477, 37380777, 37628631, 8913739
Neoplasms	Inhibit	15355988, 21151896, 22797812, 24965941, 32938703, 35236797
Neoplasms Cystic Mucinous and Serous	Associate	18084250
Neoplastic Syndromes Hereditary	Associate	11717307
Neuroblastoma	Associate	33384420
Nijmegen Breakage Syndrome	Associate	15733840
Obesity	Associate	18312663
Osteoporosis	Associate	18677484
Osteosarcoma	Associate	17015833
Ovarian Neoplasms	Associate	36745477
Precancerous Conditions	Associate	25228686
Progeria	Associate	22797812, 23257959, 24429382, 29476423
Progeroid syndrome neonatal	Associate	18583366, 19283071, 28795391
Rothmund Thomson Syndrome	Associate	16809776, 23650516, 23683351, 27859906
Sarcoma	Associate	18271933
Skin Ulcer	Associate	29924215
Stomach Neoplasms	Associate	24359226
Telomeric 22q13 Monosomy Syndrome	Associate	20215438, 25390333, 26420422
Thyroid Cancer Papillary	Associate	38062767
Thyroid Neoplasms	Associate	38165228
Turcot syndrome	Associate	30910006
Uterine Cervical Dysplasia	Associate	37217238
Uterine Cervical Incompetence	Associate	23849162
Uterine Cervical Neoplasms	Associate	22797812
Uterine Cervicitis	Associate	32938703
Werner Syndrome	Associate	10359700, 10373438, 10436020, 10446247, 10506209, 10540192, 10779560, 10781066, 11027336, 11179234, 11256630, 11380620, 11427532, 11572872, 11598021, 11717307, 11896071, 11956187, 12665521, 12750383, 12842909, 12882351, 12934712, 14534320, 14596914, 14612404, 15026416, 15084309, 15200954, 15292449, 15733840, 15899892, 16007276, 16024823, 16030011, 16150736, 16223718, 16287861, 16339893, 16394631, 16396834, 16449207, 16503984, 16673358, 17015833, 17266675, 17284601, 17317667, 17378750, 17449919, 17563354, 17875398, 18209099, 18212065, 18250621, 18312663, 18337721, 18398454, 18524993, 18558713, 18583366, 18596042, 18596239, 18658245, 18677484, 18771289, 18852298, 19064679, 19283071, 19966859, 20103920, 20157511, 20215438, 20443122, 20447876, 20477760, 20516064, 20519774, 20600238, 20663905, 20808731, 21107010, 21220316, 21267443, 21285356, 21558802, 22159421, 22351772, 22576367, 22713343, 22766507, 22871734, 23161009, 23257959, 23334603, 23583337, 23650516, 23683351, 23849162, 23867477, 23933816, 24429382, 24620826, 24626809, 25228686, 25257404, 25294835, 25352544, 25390333, 25830902, 26241669, 26344056, 26420422, 26690424, 26695548, 26984941, 27672210, 27829440, 27849570, 27863399, 28069813, 28538897, 28738022, 28795391, 28861129, 29476423, 29800817, 30107835, 30568144, 31061318, 31085421, 31259468, 31404747, 32320127, 32367056, 32415031, 32680555, 32814719, 33054770, 33087645, 33837064, 34087989, 34564935, 34612580, 35240258, 35751457, 35780059, 35909544, 36259858, 36396328, 37815015, 8037212, 8651307, 8913739, 9012406, 9531977, 9611231, 9671747, 9671808, 9852073
Werner Syndrome	Inhibit	17717003, 24965941
Williams Syndrome	Associate	11956187, 19966276, 33087645