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:0000166	Function	Nucleotide binding	IEA
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
GO:0000723	Process	Telomere maintenance	IDA	11735402
GO:0000723	Process	Telomere maintenance	IEA
GO:0000723	Process	Telomere maintenance	IEA
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
GO:0000731	Process	DNA synthesis involved in DNA repair	IDA	17563354
GO:0000781	Component	Chromosome, telomeric region	IDA	15200954, 26420422
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IDA	9288107
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	IDA	9288107, 12181313, 12944467, 15200954, 19734539, 26420422
GO:0003678	Function	DNA helicase activity	IMP	10871376
GO:0003824	Function	Catalytic activity	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004527	Function	Exonuclease activity	IDA	12944467
GO:0004527	Function	Exonuclease activity	IEA
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, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA	11420665, 12944467, 17498979, 21639834, 25801465
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	IEA
GO:0005657	Component	Replication fork	ISS
GO:0005694	Component	Chromosome	IBA
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA	9618508, 11420665, 12181313, 12944467, 15200954, 17498979, 21639834, 25801465
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005813	Component	Centrosome	IDA	17498979
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
GO:0006259	Process	DNA metabolic process	IDA	16622405
GO:0006259	Process	DNA metabolic process	IEA
GO:0006260	Process	DNA replication	IBA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IMP	12882351
GO:0006260	Process	DNA replication	ISS
GO:0006281	Process	DNA repair	IEA
GO:0006284	Process	Base-excision repair	IDA	17611195
GO:0006298	Process	Mismatch repair	IDA	17715146
GO:0006302	Process	Double-strand break repair	IMP	21639834
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IDA	18203716
GO:0006974	Process	DNA damage response	IEA
GO:0006979	Process	Response to oxidative stress	IDA	17611195
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008408	Function	3'-5' exonuclease activity	IDA	10783163, 10871373, 12181313, 16622405
GO:0008408	Function	3'-5' exonuclease activity	IEA
GO:0009267	Process	Cellular response to starvation	IDA	11420665
GO:0009378	Function	Four-way junction helicase activity	IBA
GO:0009378	Function	Four-way junction helicase activity	IDA	11433031, 11735402
GO:0010225	Process	Response to UV-C	IDA	17563354
GO:0016607	Component	Nuclear speck	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	10373438, 10871376
GO:0016887	Function	ATP hydrolysis activity	IEA
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:0032201	Process	Telomere maintenance via semi-conservative replication	TAS
GO:0032392	Process	DNA geometric change	IDA	11735402
GO:0032392	Process	DNA geometric change	IEA
GO:0032392	Process	DNA geometric change	ISS
GO:0032405	Function	MutLalpha complex binding	IDA	17715146
GO:0040009	Process	Regulation of growth rate	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	10783163
GO:0043138	Function	3'-5' DNA helicase activity	IBA
GO:0043138	Function	3'-5' DNA helicase activity	IDA	17715146
GO:0043138	Function	3'-5' DNA helicase activity	IEA
GO:0043138	Function	3'-5' DNA helicase activity	TAS
GO:0044877	Function	Protein-containing complex binding	IDA	10783163
GO:0046872	Function	Metal ion binding	IEA
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, 17715146
GO:0061820	Process	Telomeric D-loop disassembly	IDA	15200954, 16030011, 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	IDA	19734539
GO:0070337	Function	3'-flap-structured DNA binding	IDA	26420422
GO:0071480	Process	Cellular response to gamma radiation	IDA	21639834
GO:0090398	Process	Cellular senescence	IMP	18212065
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:0140097	Function	Catalytic activity, acting on DNA	IEA
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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Pathogenic	rs1413656527	RCV005901975	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs776963381	RCV005901281	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Likely pathogenic; Pathogenic	rs17847577	RCV000722025	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic	rs1177166077	RCV003154738	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive pulmonary failure	Likely pathogenic	rs2130050166	RCV003126320	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Werner syndrome	Likely pathogenic; Pathogenic	rs1801859348, rs752202315, rs2130157703, rs2130282582, rs2130284894, rs1281075870, rs1803425342, rs878854133, rs766733097, rs2130056280, rs769959338, rs751986285, rs2130117999, rs2130118890, rs1563339055, rs2130121624, rs2130133359, rs2130155924, rs749616545, rs1396973081, rs765756226, rs2130229354, rs2130282820, rs2130283793, rs1428459485, rs2130344836, rs1441659798, rs1585502089, rs2130377037, rs2130417119, rs745905108, rs2130422216, rs2130426690, rs2130470364, rs2130480213, rs2130229490, rs770947623, rs2130469632, rs756880457, rs2130322576, rs2130306367, rs2130118800, rs1381370500, rs754056304, rs2130032250, rs1802899166, rs2130441377, rs2130284409, rs1814007969, rs1802626671, rs2130469991, rs1813089918, rs2130284286, rs1175230246, rs2130140311, rs1047229701, rs2130229956, rs1454512341, rs2130037261, rs2130376964, rs2130344386, rs2130118911, rs2130032264, rs2130120515, rs752312589, rs2130164025, rs2130322156, rs2130155211, rs2130306240, rs1812358625, rs1802745073, rs2130155645, rs2130306151, rs2130171351, rs1554533006, rs2130121425, rs776963381, rs2130048793, rs1812737120, rs1455560468, rs2130178691, rs773664315, rs2130000774, rs2130118163, rs1563339062, rs2130095451, rs2130514507, rs2130439413, rs2130050166, rs1319491415, rs866300270, rs2130121219, rs1813285283, rs1279240593, rs2130119420, rs1434118877, rs1395775047, rs281865159, rs1258953831, rs372382340, rs2536035606, rs1461411104, rs1241888415, rs2536029962, rs2536043103, rs751112452, rs1374026497, rs775802030, rs1248051594, rs2535919474, rs1268227280, rs1585440764, rs2535924522, rs2535930484, rs2535951148, rs2536061924, rs121908446, rs121908447, rs606231162, rs113993961, rs587776621, rs17847577, rs369158322, rs121908448, rs797045118, rs2536056686, rs2535901752, rs2536049813, rs2535880745, rs2536056771, rs2536049949, rs2536041791, rs1304645785, rs985347750, rs2535919361, rs2535968819, rs771433734, rs191078968, rs2535910363, rs2535924832, rs2130415100, rs2535890221, rs2535911235, rs2535931386, rs2536042069, rs2535911452, rs878854135, rs2130036699, rs2535887580, rs878854131, rs878854136, rs2536012106, rs1585409238, rs2535911020, rs2535911171, rs2535880796, rs2535931724, rs2535902178, rs2535950915, rs2535887383, rs1563331288, rs2536031186, rs774007667, rs1585449207, rs2130178752, rs2130515044, rs2535995120, rs2535986999, rs1389423879, rs1413656527, rs1377977559, rs2130140321, rs780068269, rs2536049676, rs2535909385, rs1803078013, rs2536012100, rs2487266223, rs755891046, rs2536043142, rs2535930302, rs369277330, rs1408863821, rs2535978167, rs2535887104, rs2536031400, rs1813759748, rs2130170949, rs2535880725, rs1814197375, rs748089844, rs2535924122, rs2535910324, rs2535978700, rs2535943835, rs2487269253, rs2535910794, rs2535911476, rs2535923881, rs2535887119, rs2535978637, rs758232075, rs369741345, rs2535889381, rs2535968541, rs2130415051, rs2535880664, rs2535909752, rs2535996014, rs2535978888, rs2536043465, rs2130283448, rs2535986673, rs2535901953, rs2535969062, rs2535969485, rs2536042016, rs2536081390, rs2535951128, rs2535887324, rs2535930261, rs924770060, rs2535909627, rs2536049305, rs2536049982, rs1802630943, rs1814197201, rs2535986824, rs1802887261, rs2535902088, rs2535930349, rs2535916908, rs2535916919, rs2536081428, rs1801519418, rs1415757819, rs2535931905, rs2535927271, rs2536043255, rs2535909471, rs2535969504, rs2535986332, rs2535882559, rs2536033601, rs2535927086, rs773822420, rs1801530173, rs1300106191, rs377215256, rs2535926992, rs2487270254, rs2535934098, rs2535986922, rs747319628, rs2535911081, rs2535968881, rs2130000832, rs2536056612, rs2536012185, rs2535924290, rs2535919253, rs2536035612, rs762855622, rs2536080997, rs2535986164, rs2535911241, rs776785728, rs774765029, rs370324188, rs371538747, rs1383589957, rs761240520, rs759972548, rs758988621, rs1284409960, rs747587698, rs1554526707, rs281865157, rs281865160, rs1339616347, rs1554519449, rs1554519254, rs1361270203, rs777096501, rs1554527775, rs143916053, rs763089663, rs1554528411, rs1198210848, rs1244318419, rs1563376347, rs1563376526, rs778872619, rs1563382597, rs752830087, rs1563341296, rs748860208, rs754208761, rs757808169, rs1563357741, rs1303126572, rs1563338837, rs1563338855, rs1563376793, rs1563385391, rs780555196, rs1563376595, rs1563351045, rs373806031, rs1585411632, rs1585427471, rs779012596, rs1585427710, rs1389340786, rs1585440064, rs1585455586, rs1585478303, rs1585478331, rs748484883, rs1585483312, rs371720457, rs1585521874, rs1585536813, rs1455462438, rs751015040, rs1585517902, rs1585483030, rs748618811, rs752465293, rs1170732591, rs1812611533, rs746445847, rs751969803, rs1813725603, rs1814195192, rs1801328287, rs1801522729, rs1801678807, rs1802623856, rs1288018118, rs1802694719, rs1803078438, rs762379051, rs759685032, rs780988648, rs775196937, rs1812613241, rs1812741645, rs1813280584, rs1802645000, rs1812391312, rs757968518, rs1813283817, rs1803426742, rs1163988347, rs1813707238, rs1474054365, rs1801846606, rs1802222407, rs1813480415, rs1813725009	RCV003093297 RCV001379807 RCV001377490 RCV001376916 RCV001377268 RCV001377929 RCV001379139 RCV001383226 RCV001388768 RCV001380057 RCV001387927 RCV001380326 RCV001387189 RCV001388899 RCV001381357 RCV001385801 RCV001389221 RCV001383108 RCV001384580 RCV001383489 RCV001390198 RCV001388700 RCV001389592 RCV001384366 RCV001388485 RCV001390002 RCV001390620 RCV001386109 RCV001382747 RCV001380493 RCV001389950 RCV001387267 RCV001383487 RCV001390387 RCV001385931 RCV001563583 RCV001785147 RCV001785148 RCV003505191 RCV001917069 RCV001979697 RCV001902901 RCV001993732 RCV001991812 RCV001864153 RCV002028426 RCV001999136 RCV001877913 RCV001995260 RCV001946694 RCV001970151 RCV001987512 RCV001958447 RCV002051051 RCV002017288 RCV001942705 RCV002045323 RCV002044663 RCV001989867 RCV001874669 RCV001927526 RCV002007292 RCV002000177 RCV001993139 RCV002007181 RCV002035295 RCV001915051 RCV001999967 RCV002000112 RCV002004008 RCV002007522 RCV002035478 RCV001873127 RCV001918133 RCV001939514 RCV002013441 RCV001941527 RCV002005765 RCV002041449 RCV001946810 RCV001951082 RCV001951138 RCV001972390 RCV001889051 RCV001958599 RCV001949475 RCV001995026 RCV001949209 RCV002050960 RCV001951486 RCV001981974 RCV002029527 RCV001981380 RCV001949637 RCV002029182 RCV001984503 RCV001978207 RCV001981161 RCV002012480 RCV002282834 RCV003058675 RCV003073939 RCV003065229 RCV003088430 RCV003087971 RCV002599621 RCV002615060 RCV002592193 RCV001095680 RCV002584283 RCV002634696 RCV002631084 RCV002643049 RCV002663846 RCV002672116 RCV002695936 RCV002715017 RCV002730334 RCV002800690 RCV000005777 RCV000005778 RCV000005779 RCV000005780 RCV000005781 RCV000005782 RCV000005783 RCV000005785 RCV000190647 RCV002815564 RCV002856995 RCV002856653 RCV002875559 RCV002848157 RCV002867686 RCV002889964 RCV002917601 RCV002975800 RCV002958186 RCV002994633 RCV003011812 RCV002994345 RCV003023162 RCV003030975 RCV003031205 RCV003015037 RCV003043813 RCV003054976 RCV003036251 RCV003054532 RCV003054122 RCV003057210 RCV003064157 RCV003123402 RCV000233160 RCV000232269 RCV000229897 RCV003334419 RCV003464861 RCV003466538 RCV003464862 RCV003464863 RCV003466539 RCV003466540 RCV003464864 RCV003464865 RCV003466541 RCV003466542 RCV003464866 RCV003464867 RCV003464868 RCV003466543 RCV003466544 RCV003466545 RCV003466546 RCV003464869 RCV003464870 RCV003464871 RCV003464872 RCV003464873 RCV003466547 RCV003466548 RCV003466549 RCV003464874 RCV003464875 RCV003466550 RCV003466551 RCV003466552 RCV003464876 RCV003466553 RCV003466554 RCV003464877 RCV003464878 RCV003464879 RCV003464880 RCV003464881 RCV003464882 RCV003466555 RCV003486526 RCV003505403 RCV003505406 RCV003505902 RCV003506147 RCV003505944 RCV003506212 RCV003506374 RCV003506380 RCV003506342 RCV003506343 RCV003506400 RCV003506485 RCV003506514 RCV003506522 RCV003506745 RCV003504614 RCV003506559 RCV003504692 RCV003504822 RCV003504980 RCV003504706 RCV003505043 RCV003505556 RCV003505625 RCV003505627 RCV003505633 RCV003505580 RCV003505583 RCV003505658 RCV003505753 RCV003505012 RCV003505738 RCV003614248 RCV003614343 RCV003614498 RCV003614452 RCV003613589 RCV003613678 RCV003613536 RCV003613801 RCV003613826 RCV003613869 RCV003613870 RCV003613880 RCV003613702 RCV003613840 RCV003614761 RCV003614788 RCV003614638 RCV003614626 RCV003614737 RCV003614831 RCV003614855 RCV003614937 RCV003614840 RCV003615057 RCV003615091 RCV003615092 RCV003615099 RCV003615310 RCV003615266 RCV004573865 RCV003810639 RCV003838503 RCV003821562 RCV000269754 RCV003875372 RCV003990518 RCV004573859 RCV004573860 RCV004573861 RCV004573862 RCV004573863 RCV004573864 RCV004573866 RCV004573867 RCV004573868 RCV004573869 RCV004573870 RCV000472438 RCV000456191 RCV000473494 RCV000538668 RCV000525763 RCV000551629 RCV000535445 RCV000537557 RCV000548461 RCV000556275 RCV000543106 RCV000536055 RCV000032135 RCV000032139 RCV001197400 RCV000633255 RCV000633242 RCV000633178 RCV000633232 RCV000633241 RCV000633216 RCV000633177 RCV000633217 RCV000689923 RCV000695070 RCV000706164 RCV000687948 RCV000705937 RCV000704808 RCV000703201 RCV000705137 RCV000697109 RCV000698561 RCV000700194 RCV000689198 RCV000691593 RCV000693200 RCV000701196 RCV000703720 RCV000686812 RCV000705760 RCV000685191 RCV000700486 RCV000796411 RCV000778859 RCV000778858 RCV000808852 RCV000798736 RCV000794570 RCV000794563 RCV000795808 RCV000822419 RCV000793398 RCV000812821 RCV000814029 RCV000823525 RCV000801556 RCV000807064 RCV000809844 RCV000822792 RCV000821568 RCV000812121 RCV000814546 RCV000804468 RCV000817095 RCV000813480 RCV000799008 RCV000798163 RCV000814888 RCV000810173 RCV000988045 RCV001068691 RCV001069639 RCV001053556 RCV001035933 RCV001067145 RCV001057336 RCV001036042 RCV001071478 RCV001062690 RCV001057807 RCV001049837 RCV001070766 RCV001055585 RCV001057497 RCV001071713 RCV001035119 RCV001069280 RCV001056217 RCV001049593 RCV001036726 RCV001217677 RCV001224126 RCV001221003 RCV001214542 RCV001213429 RCV001204056 RCV001207861 RCV001211614 RCV001207577 RCV001216901 RCV001219214 RCV001224034 RCV001220501 RCV001220614 RCV001224659 RCV001235164 RCV001231930 RCV001227506 RCV001234274 RCV001283784	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WRN-related disorder	Likely pathogenic; Pathogenic	rs745905108, rs370324188	RCV003963252 RCV003418150	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE SCLERODERMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DNA REPAIR-DEFICIENCY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENILE CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wiskott-Aldrich syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acral Lentiginous Malignant Melanoma	Acral Lentiginous Malignant Melanoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	25503078		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21151896		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	23619945		★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	24989684		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	24709898	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26394601	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11186893, 19095983		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	18596239	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	18209099, 23867477	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11186893, 19095983		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	17317667	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atypical Werner syndrome	Werner Syndrome	BEFREE	12927431, 19095983		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	10600744, 11256630, 11275547, 11741924, 11960380, 20663905, 23161009, 24602044, 24924172, 26984941, 27238185, 8913739, 9671747		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	11399766, 11433031, 11741924, 11919194, 15899892, 15965237, 16030011, 16287861, 16288211, 16326861, 16412221, 18504617, 19567405, 19966276, 20447876, 20663905, 22576367, 23161009, 23650516, 32367056, 8913739, 9671747	Associate	★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	LHGDN	11919194		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	21736299	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	16501249, 17412712		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16501249, 17301258, 17764108, 19205873, 26690424, 26959889, 27449045, 27571987		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26690424, 26959889, 27449045, 27571987, 33413557, 37628631	Associate	★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12842909, 21267443, 22173703	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21410269, 29209123	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	16007276, 18312663	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	18312663		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	16673358, 23334603, 23849162, 34564935	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	BEFREE	23322570, 23334603		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract Nuclear Progressive	Congenital cataract	Pubtator	23849162	Associate	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	19567405	Associate	★☆☆☆☆ Found in Text Mining only
Chromosome Instability Syndromes	Chromosome Instability Syndromes	CTD_human_DG	29616805		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	19282863		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	11809708, 16804003, 19095983, 28394436, 9671808		★☆☆☆☆ Found in Text Mining only
Coffin-Lowry syndrome	Coffin-Lowry Syndrome	BEFREE	23022073		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17372756, 18084250, 19945966, 25355595, 27121793		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	16723399		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18084250, 19002263, 24308539, 25355595, 26344056, 27121793, 33837064, 37828981	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	11840341, 16264192, 17284601		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	23322570		★☆☆☆☆ Found in Text Mining only
Cutis Laxa Autosomal Recessive Type IIB	Cutis laxa	Pubtator	27859906, 32320127	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	11498731		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	16007276	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	16007276	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16098926		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15262425, 16098926, 24356923		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	33087645, 34564935, 35780059, 37815015	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	16098926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	16098926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Foot	Diabetic foot	Pubtator	35909544	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	16738949, 23619945		★☆☆☆☆ Found in Text Mining only
DNA Repair-Deficiency Disorders	DNA Repair-Deficiency Disorders	CTD_human_DG	29616805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36745477	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	22173703		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	22173703		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22173703	Associate	★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	33826001	Associate	★☆☆☆☆ Found in Text Mining only
Familial partial lipodystrophy	Partial Lipodystrophy	BEFREE	24152769		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	23867477		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	23867477		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP D2	Fanconi Anemia	BEFREE	28934497		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	16362795		★☆☆☆☆ Found in Text Mining only
Gastrointestinal carcinoma	Gastrointestinal carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18670736		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36745477	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	25503078		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	31882575	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	33087645	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	23849162, 32367056	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	31937549	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28063943		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Accelerated Phase	Myeloid leukemia	Pubtator	39408822	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	23849162		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	Pubtator	23849162, 35780059	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	33225619	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	16738949		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma Follicular	Lymphoma	Pubtator	25178586	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	25178586		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	16738949, 23619945		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	18271933		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	LHGDN	18271933		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16501249, 17301258, 17764108, 19205873, 26690424, 26959889, 27449045, 27571987		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	22173703		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24359226		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	8722214		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10364153, 10506209, 10606667, 11032027, 11427532, 11765063, 12771022, 12842909, 15743673, 16362795, 16501249, 16720342, 16723399, 17015833, 17314245, 17412712, 17624410, 18003859, 18195102, 18203716, 18312465, 18504617, 18616953, 18719387, 19205873, 19812417, 19917533, 19945966, 20663905, 22713343, 22871734, 23867477, 25468760, 26241669, 27121793, 27902925, 27931782, 28440612, 31772289		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18832519, 21738611		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	35085295	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	8722214		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	19626699	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	29581016		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	32415031	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1	Mental retardation	BEFREE	28934497		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	25503078		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	35909544	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	18524993		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Necrosis	Necrosis	Pubtator	17875398	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasm of small intestine	Intestinal Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15149862, 16723399, 17624410, 18084250, 20663905, 21151896, 27411922		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	33384420	Associate	★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	BEFREE	23322570		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	BEFREE	23322570		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18312663	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23523974		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	18677484	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	25637295		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	17015833		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	17015833	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosclerosis	Osteosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36745477	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	23867477		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	19095983		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	19095983		★☆☆☆☆ Found in Text Mining only
Posterior subcapsular cataract	Capsular cataract	BEFREE	23329665		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	10049920, 10364153, 10606667, 10620009, 12882351, 15743673, 15995249, 16150736, 16362795, 16405962, 16501249, 17587522, 18414032, 19205873, 19398855, 19567405, 20062519, 20157511, 20808731, 20952810, 21550379, 22159421, 22871734, 23161009, 23276657, 23524889, 24356923, 25931448, 26420422, 26690424, 27271327, 28118071, 30206203, 9697700, 9885239		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	CTD_human_DG	21267443		★☆☆☆☆ Found in Text Mining only
Premature arteriosclerosis	Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	22127259, 22797812, 29476423		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31831298		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	12200042		★☆☆☆☆ Found in Text Mining only
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	BEFREE	11356154, 12200042, 18430459, 18719387, 22039056, 24924172, 27238185, 31772289		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	18271933		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	LHGDN	18271933		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	18271933	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	27121793		★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Ulcer	Skin ulcer	Pubtator	29924215	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	21571861		★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	BEFREE	23022073		★☆☆☆☆ Found in Text Mining only
Stickler syndrome, type 1	Stickler syndrome	BEFREE	23022073		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24359226		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24359226	Associate	★☆☆☆☆ Found in Text Mining only
Subcutaneous calcification	Subcutaneous calcification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	LHGDN	16906373		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	23619945		★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	20215438, 25390333, 26420422	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	38062767	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	8722214		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	8722214		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	38165228	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	30910006	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	37217238	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22797812	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	28063943		★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	10049920, 10220139, 10364153, 10436020, 10480367, 10540192, 10600744, 10606667, 10628995, 10811112, 10871373, 10911957, 10984715, 11161804, 11186893, 11275547, 11356154, 11399766, 11427532, 11433031, 11514625, 11708785, 11840341, 12242278, 12633936, 12722926, 12842909, 12927431, 12934712, 12937274, 12952869, 15115755, 15247043, 15888165, 15995249, 16024823, 16150736, 16362795, 16405962, 16673358, 16720342, 16786514, 16804003, 16876111, 17015833, 17284601, 17301258, 17412712, 17449919, 17587522, 17624410, 18054793, 18056975, 18205852, 18212065, 18312663, 18337721, 18346216, 18810497, 18956248, 19095983, 19398855, 19542097, 19567405, 19741171, 19812417, 19824023, 19896421, 20043098, 20062519, 20075015, 20103920, 20157511, 20443122, 20536831, 20808731, 21285356, 21550379, 22065502, 22127259, 22159421, 22188495, 22713343, 22871734, 23161009, 23334603, 23523974, 23524889, 23583337, 23849162, 23867477, 24152769, 24356923, 25257404, 25390333, 25503078, 25931448, 26241669, 26420422, 26690424, 26808708, 26948039, 26984941, 26993153, 27238185, 27271327, 27922005, 27931782, 28118071, 28158503, 28180303, 28276523, 28394436, 28440507, 28738022, 28861129, 29146545, 29412869, 29452565, 29476423, 29705892, 29908963, 30107835, 30206203, 30666569, 31085421, 31235391, 31259468, 31270292, 31772289, 8037212, 8325642, 8602509, 8812476, 8913739, 9012406, 9225981, 9271578, 9365237, 9450180, 9671747, 9671808, 9697700, 9823331, 9852073, 9885239		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Werner Syndrome	Werner Syndrome	CLINVAR_DG	10347997, 10543396, 15888165, 16673358, 16786514, 18810497, 20443122, 22188495, 25182132, 25390333, 8602509, 8968742, 9012406, 9225981		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Werner Syndrome	Werner syndrome	Pubtator	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	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Werner Syndrome	Werner Syndrome	GENOMICS_ENGLAND_DG	10440702, 28338660, 8602509		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Werner Syndrome	Werner Syndrome	CLINGEN_DG	10628995, 10678659, 10757812, 15235603, 8602509, 8641691, 9048918		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Werner Syndrome	Werner Syndrome	LHGDN	12937274, 14534320, 15336909, 15995249, 16223718, 16380375, 16673358, 18558713, 18596042		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Werner Syndrome	Werner Syndrome	ORPHANET_DG	16673358		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Werner Syndrome	Werner Syndrome	UNIPROT_DG	16673358		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Werner Syndrome	Werner syndrome	Pubtator	17717003, 24965941	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Werner syndrome	Werner Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Werner Syndrome	Werner Syndrome	CTD_human_DG	21267443, 22766507		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Williams Syndrome	Williams Syndrome	BEFREE	10984715, 18054793		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	11956187, 19966276, 33087645	Associate	★☆☆☆☆ Found in Text Mining only