CTCF (CCCTC-binding factor)

Gene

• Entrez ID: 10664
• Gene name: CCCTC-binding factor
• Gene symbol: CTCF
• Synonyms (NCBI Gene): CFAP108, FAP108, MRD21
• Chromosome: 16
• Chromosome location: 16q22.1
• Summary: This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA tar

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200677445	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs879255516	C>T	Pathogenic	Missense variant, coding sequence variant
rs879255570	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs879255571	->A	Pathogenic	Frameshift variant, coding sequence variant
rs886039600	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs886041901	GTTCT>-	Pathogenic	Stop gained, coding sequence variant
rs886041997	->A	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1064796062	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691283	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555534067	C>A,T	Pathogenic	Stop gained, intron variant, synonymous variant, coding sequence variant
rs1555534093	->GA	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555534147	GAAA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555534189	A>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1555535156	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555535157	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555535739	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555536759	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1567608876	AAAA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1567609067	G>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1597718106	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1597725291	C>G	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024342	hsa-miR-215-5p	Microarray	19074876
MIRT026312	hsa-miR-192-5p	Microarray	19074876
MIRT030430	hsa-miR-24-3p	Microarray	19748357
MIRT052311	hsa-let-7b-5p	CLASH	23622248
MIRT040249	hsa-miR-615-3p	CLASH	23622248
MIRT036336	hsa-miR-1229-3p	CLASH	23622248
MIRT054355	hsa-miR-221-3p	Luciferase reporter assay, QRTPCR, Western blot	23630541
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT913905	hsa-miR-105	CLIP-seq
MIRT913906	hsa-miR-1206	CLIP-seq
MIRT913907	hsa-miR-1237	CLIP-seq
MIRT913908	hsa-miR-129-5p	CLIP-seq
MIRT913909	hsa-miR-149	CLIP-seq
MIRT913910	hsa-miR-19a	CLIP-seq
MIRT913911	hsa-miR-19b	CLIP-seq
MIRT913912	hsa-miR-23a	CLIP-seq
MIRT913913	hsa-miR-23b	CLIP-seq
MIRT913914	hsa-miR-23c	CLIP-seq
MIRT913915	hsa-miR-300	CLIP-seq
MIRT913916	hsa-miR-3120-3p	CLIP-seq
MIRT913917	hsa-miR-34b	CLIP-seq
MIRT913918	hsa-miR-3605-3p	CLIP-seq
MIRT913919	hsa-miR-3607-5p	CLIP-seq
MIRT913920	hsa-miR-3620	CLIP-seq
MIRT913921	hsa-miR-3671	CLIP-seq
MIRT913922	hsa-miR-381	CLIP-seq
MIRT913923	hsa-miR-3977	CLIP-seq
MIRT913924	hsa-miR-4259	CLIP-seq
MIRT913925	hsa-miR-4263	CLIP-seq
MIRT913926	hsa-miR-4417	CLIP-seq
MIRT913927	hsa-miR-4645-3p	CLIP-seq
MIRT913928	hsa-miR-4666-3p	CLIP-seq
MIRT913929	hsa-miR-4696	CLIP-seq
MIRT913930	hsa-miR-4699-5p	CLIP-seq
MIRT913931	hsa-miR-4709-3p	CLIP-seq
MIRT913932	hsa-miR-4715-5p	CLIP-seq
MIRT913933	hsa-miR-4718	CLIP-seq
MIRT913934	hsa-miR-4727-5p	CLIP-seq
MIRT913935	hsa-miR-4789-5p	CLIP-seq
MIRT913936	hsa-miR-576-5p	CLIP-seq
MIRT913937	hsa-miR-607	CLIP-seq
MIRT913938	hsa-miR-624	CLIP-seq
MIRT913939	hsa-miR-936	CLIP-seq
MIRT913940	hsa-miR-944	CLIP-seq
MIRT913906	hsa-miR-1206	CLIP-seq
MIRT913908	hsa-miR-129-5p	CLIP-seq
MIRT913941	hsa-miR-1301	CLIP-seq
MIRT913942	hsa-miR-1468	CLIP-seq
MIRT913910	hsa-miR-19a	CLIP-seq
MIRT913911	hsa-miR-19b	CLIP-seq
MIRT913943	hsa-miR-203	CLIP-seq
MIRT913944	hsa-miR-219-5p	CLIP-seq
MIRT913945	hsa-miR-221	CLIP-seq
MIRT913946	hsa-miR-222	CLIP-seq
MIRT913912	hsa-miR-23a	CLIP-seq
MIRT913913	hsa-miR-23b	CLIP-seq
MIRT913914	hsa-miR-23c	CLIP-seq
MIRT913947	hsa-miR-2467-5p	CLIP-seq
MIRT913916	hsa-miR-3120-3p	CLIP-seq
MIRT913948	hsa-miR-3145-5p	CLIP-seq
MIRT913949	hsa-miR-3188	CLIP-seq
MIRT913950	hsa-miR-345	CLIP-seq
MIRT913917	hsa-miR-34b	CLIP-seq
MIRT913918	hsa-miR-3605-3p	CLIP-seq
MIRT913919	hsa-miR-3607-5p	CLIP-seq
MIRT913951	hsa-miR-3650	CLIP-seq
MIRT913952	hsa-miR-3667-3p	CLIP-seq
MIRT913953	hsa-miR-3942-5p	CLIP-seq
MIRT913954	hsa-miR-3944-5p	CLIP-seq
MIRT913955	hsa-miR-3975	CLIP-seq
MIRT913923	hsa-miR-3977	CLIP-seq
MIRT913924	hsa-miR-4259	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT913957	hsa-miR-4432	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT913959	hsa-miR-4445	CLIP-seq
MIRT913960	hsa-miR-4495	CLIP-seq
MIRT913961	hsa-miR-4496	CLIP-seq
MIRT913962	hsa-miR-4499	CLIP-seq
MIRT913963	hsa-miR-4501	CLIP-seq
MIRT913964	hsa-miR-4504	CLIP-seq
MIRT913927	hsa-miR-4645-3p	CLIP-seq
MIRT913965	hsa-miR-4649-3p	CLIP-seq
MIRT913966	hsa-miR-4660	CLIP-seq
MIRT913967	hsa-miR-4668-5p	CLIP-seq
MIRT913929	hsa-miR-4696	CLIP-seq
MIRT913968	hsa-miR-4698	CLIP-seq
MIRT913969	hsa-miR-4699-3p	CLIP-seq
MIRT913930	hsa-miR-4699-5p	CLIP-seq
MIRT913970	hsa-miR-4703-5p	CLIP-seq
MIRT913931	hsa-miR-4709-3p	CLIP-seq
MIRT913971	hsa-miR-4711-5p	CLIP-seq
MIRT913972	hsa-miR-4714-3p	CLIP-seq
MIRT913932	hsa-miR-4715-5p	CLIP-seq
MIRT913933	hsa-miR-4718	CLIP-seq
MIRT913973	hsa-miR-4781-3p	CLIP-seq
MIRT913974	hsa-miR-4782-3p	CLIP-seq
MIRT913975	hsa-miR-485-5p	CLIP-seq
MIRT913976	hsa-miR-499-5p	CLIP-seq
MIRT913977	hsa-miR-5047	CLIP-seq
MIRT913978	hsa-miR-508-3p	CLIP-seq
MIRT913979	hsa-miR-5095	CLIP-seq
MIRT913980	hsa-miR-542-3p	CLIP-seq
MIRT913981	hsa-miR-548a-3p	CLIP-seq
MIRT913982	hsa-miR-548ad	CLIP-seq
MIRT913983	hsa-miR-548e	CLIP-seq
MIRT913984	hsa-miR-548f	CLIP-seq
MIRT913985	hsa-miR-548v	CLIP-seq
MIRT913986	hsa-miR-552	CLIP-seq
MIRT913987	hsa-miR-556-3p	CLIP-seq
MIRT913988	hsa-miR-586	CLIP-seq
MIRT913989	hsa-miR-587	CLIP-seq
MIRT913990	hsa-miR-591	CLIP-seq
MIRT913991	hsa-miR-618	CLIP-seq
MIRT913992	hsa-miR-760	CLIP-seq
MIRT913993	hsa-miR-885-5p	CLIP-seq
MIRT913939	hsa-miR-936	CLIP-seq
MIRT1922673	hsa-miR-2355-5p	CLIP-seq
MIRT913939	hsa-miR-936	CLIP-seq
MIRT1971053	hsa-miR-122	CLIP-seq
MIRT1971054	hsa-miR-1266	CLIP-seq
MIRT1971055	hsa-miR-128	CLIP-seq
MIRT1971056	hsa-miR-1299	CLIP-seq
MIRT1971057	hsa-miR-1321	CLIP-seq
MIRT1971058	hsa-miR-1324	CLIP-seq
MIRT1971059	hsa-miR-140-3p	CLIP-seq
MIRT1971060	hsa-miR-140-5p	CLIP-seq
MIRT1971061	hsa-miR-141	CLIP-seq
MIRT913942	hsa-miR-1468	CLIP-seq
MIRT1971062	hsa-miR-200a	CLIP-seq
MIRT913944	hsa-miR-219-5p	CLIP-seq
MIRT913945	hsa-miR-221	CLIP-seq
MIRT913946	hsa-miR-222	CLIP-seq
MIRT913912	hsa-miR-23a	CLIP-seq
MIRT913913	hsa-miR-23b	CLIP-seq
MIRT913914	hsa-miR-23c	CLIP-seq
MIRT913947	hsa-miR-2467-5p	CLIP-seq
MIRT1971063	hsa-miR-27a	CLIP-seq
MIRT1971064	hsa-miR-27b	CLIP-seq
MIRT1971065	hsa-miR-299-5p	CLIP-seq
MIRT1971066	hsa-miR-3065-3p	CLIP-seq
MIRT913916	hsa-miR-3120-3p	CLIP-seq
MIRT1971067	hsa-miR-3168	CLIP-seq
MIRT913949	hsa-miR-3188	CLIP-seq
MIRT1971068	hsa-miR-34a	CLIP-seq
MIRT1971069	hsa-miR-34c-5p	CLIP-seq
MIRT1971070	hsa-miR-3545-5p	CLIP-seq
MIRT913918	hsa-miR-3605-3p	CLIP-seq
MIRT1971071	hsa-miR-362-5p	CLIP-seq
MIRT1971072	hsa-miR-3909	CLIP-seq
MIRT913955	hsa-miR-3975	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT1971073	hsa-miR-433	CLIP-seq
MIRT1971074	hsa-miR-4419a	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT913959	hsa-miR-4445	CLIP-seq
MIRT1971075	hsa-miR-4456	CLIP-seq
MIRT913961	hsa-miR-4496	CLIP-seq
MIRT1971076	hsa-miR-449a	CLIP-seq
MIRT1971077	hsa-miR-449b	CLIP-seq
MIRT1971078	hsa-miR-4510	CLIP-seq
MIRT1971079	hsa-miR-4518	CLIP-seq
MIRT1971080	hsa-miR-4527	CLIP-seq
MIRT1971081	hsa-miR-4639-5p	CLIP-seq
MIRT913967	hsa-miR-4668-5p	CLIP-seq
MIRT1971082	hsa-miR-4717-3p	CLIP-seq
MIRT913934	hsa-miR-4727-5p	CLIP-seq
MIRT1971083	hsa-miR-4728-5p	CLIP-seq
MIRT1971084	hsa-miR-4739	CLIP-seq
MIRT1971085	hsa-miR-4756-5p	CLIP-seq
MIRT1971086	hsa-miR-4769-3p	CLIP-seq
MIRT913974	hsa-miR-4782-3p	CLIP-seq
MIRT1971087	hsa-miR-4782-5p	CLIP-seq
MIRT1971088	hsa-miR-4793-5p	CLIP-seq
MIRT1971089	hsa-miR-4802-3p	CLIP-seq
MIRT1971090	hsa-miR-4802-5p	CLIP-seq
MIRT913975	hsa-miR-485-5p	CLIP-seq
MIRT1971091	hsa-miR-500b	CLIP-seq
MIRT1971092	hsa-miR-502-5p	CLIP-seq
MIRT1971093	hsa-miR-505	CLIP-seq
MIRT913978	hsa-miR-508-3p	CLIP-seq
MIRT1971094	hsa-miR-513a-5p	CLIP-seq
MIRT1971095	hsa-miR-516b	CLIP-seq
MIRT1971096	hsa-miR-517b	CLIP-seq
MIRT1971097	hsa-miR-541	CLIP-seq
MIRT1971098	hsa-miR-543	CLIP-seq
MIRT913982	hsa-miR-548ad	CLIP-seq
MIRT1971099	hsa-miR-548p	CLIP-seq
MIRT913985	hsa-miR-548v	CLIP-seq
MIRT913987	hsa-miR-556-3p	CLIP-seq
MIRT913989	hsa-miR-587	CLIP-seq
MIRT1971100	hsa-miR-640	CLIP-seq
MIRT1971101	hsa-miR-654-5p	CLIP-seq
MIRT2206776	hsa-miR-101	CLIP-seq
MIRT1971054	hsa-miR-1266	CLIP-seq
MIRT2206777	hsa-miR-1273	CLIP-seq
MIRT2206778	hsa-miR-1305	CLIP-seq
MIRT1971057	hsa-miR-1321	CLIP-seq
MIRT1971058	hsa-miR-1324	CLIP-seq
MIRT1971059	hsa-miR-140-3p	CLIP-seq
MIRT1971060	hsa-miR-140-5p	CLIP-seq
MIRT913942	hsa-miR-1468	CLIP-seq
MIRT913944	hsa-miR-219-5p	CLIP-seq
MIRT913945	hsa-miR-221	CLIP-seq
MIRT913946	hsa-miR-222	CLIP-seq
MIRT1922673	hsa-miR-2355-5p	CLIP-seq
MIRT913912	hsa-miR-23a	CLIP-seq
MIRT913913	hsa-miR-23b	CLIP-seq
MIRT913914	hsa-miR-23c	CLIP-seq
MIRT1971065	hsa-miR-299-5p	CLIP-seq
MIRT913916	hsa-miR-3120-3p	CLIP-seq
MIRT1971067	hsa-miR-3168	CLIP-seq
MIRT913917	hsa-miR-34b	CLIP-seq
MIRT913918	hsa-miR-3605-3p	CLIP-seq
MIRT2206779	hsa-miR-377	CLIP-seq
MIRT913923	hsa-miR-3977	CLIP-seq
MIRT913924	hsa-miR-4259	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT1971074	hsa-miR-4419a	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT913959	hsa-miR-4445	CLIP-seq
MIRT2206780	hsa-miR-4457	CLIP-seq
MIRT1971078	hsa-miR-4510	CLIP-seq
MIRT1971079	hsa-miR-4518	CLIP-seq
MIRT1971081	hsa-miR-4639-5p	CLIP-seq
MIRT913968	hsa-miR-4698	CLIP-seq
MIRT913932	hsa-miR-4715-5p	CLIP-seq
MIRT1971082	hsa-miR-4717-3p	CLIP-seq
MIRT913934	hsa-miR-4727-5p	CLIP-seq
MIRT1971083	hsa-miR-4728-5p	CLIP-seq
MIRT1971084	hsa-miR-4739	CLIP-seq
MIRT1971085	hsa-miR-4756-5p	CLIP-seq
MIRT913973	hsa-miR-4781-3p	CLIP-seq
MIRT913974	hsa-miR-4782-3p	CLIP-seq
MIRT2206781	hsa-miR-4797-5p	CLIP-seq
MIRT1971089	hsa-miR-4802-3p	CLIP-seq
MIRT1971090	hsa-miR-4802-5p	CLIP-seq
MIRT913978	hsa-miR-508-3p	CLIP-seq
MIRT1971098	hsa-miR-543	CLIP-seq
MIRT913985	hsa-miR-548v	CLIP-seq
MIRT913989	hsa-miR-587	CLIP-seq
MIRT1971100	hsa-miR-640	CLIP-seq
MIRT913993	hsa-miR-885-5p	CLIP-seq
MIRT913939	hsa-miR-936	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT1971098	hsa-miR-543	CLIP-seq
MIRT913948	hsa-miR-3145-5p	CLIP-seq
MIRT2510099	hsa-miR-3613-3p	CLIP-seq
MIRT913952	hsa-miR-3667-3p	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT913967	hsa-miR-4668-5p	CLIP-seq
MIRT913981	hsa-miR-548a-3p	CLIP-seq
MIRT2510100	hsa-miR-548ac	CLIP-seq
MIRT2510101	hsa-miR-548ae	CLIP-seq
MIRT2510102	hsa-miR-548aj	CLIP-seq
MIRT2510103	hsa-miR-548am	CLIP-seq
MIRT2510104	hsa-miR-548d-3p	CLIP-seq
MIRT913983	hsa-miR-548e	CLIP-seq
MIRT913984	hsa-miR-548f	CLIP-seq
MIRT1971099	hsa-miR-548p	CLIP-seq
MIRT2510105	hsa-miR-548x	CLIP-seq
MIRT2510106	hsa-miR-548z	CLIP-seq
MIRT913988	hsa-miR-586	CLIP-seq
MIRT913991	hsa-miR-618	CLIP-seq
MIRT2510107	hsa-miR-635	CLIP-seq
MIRT913948	hsa-miR-3145-5p	CLIP-seq
MIRT2510099	hsa-miR-3613-3p	CLIP-seq
MIRT913952	hsa-miR-3667-3p	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT913967	hsa-miR-4668-5p	CLIP-seq
MIRT913981	hsa-miR-548a-3p	CLIP-seq
MIRT913983	hsa-miR-548e	CLIP-seq
MIRT913984	hsa-miR-548f	CLIP-seq
MIRT1971099	hsa-miR-548p	CLIP-seq
MIRT913991	hsa-miR-618	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BCL3	Repression	21912613
FOXH1	Unknown	19956589
NFKB1	Repression	21912613
WT1	Unknown	24534946
YY1	Activation	9756895

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	8649389
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	34856126
GO:0000775	Component	Chromosome, centromeric region	IDA	18550811, 26321640
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000793	Component	Condensed chromosome	IDA	16107875
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	18413740
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	8649389
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001221	Function	Transcription coregulator binding	IPI	31547883
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	8649389
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IBA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	8649389, 9591631
GO:0005515	Function	Protein binding	IPI	19505873, 19536159, 24725430, 24937458, 25416956, 26321640, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	9407128, 28319062, 31547883
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	16107875, 16595548
GO:0005654	Component	Nucleoplasm	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA	16595548
GO:0006325	Process	Chromatin organization	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007059	Process	Chromosome segregation	IEA
GO:0007507	Process	Heart development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	TAS	8649389
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	28319062
GO:0010467	Process	Gene expression	IEA
GO:0010557	Process	Positive regulation of macromolecule biosynthetic process	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	18347100
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0034502	Process	Protein localization to chromosome	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IMP	16815976
GO:0043035	Function	Chromatin insulator sequence binding	IDA	17827499
GO:0043565	Function	Sequence-specific DNA binding	IDA	17827499
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	8649389, 18413740
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	9407128
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	19322193
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	24662484
GO:0046872	Function	Metal ion binding	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0070602	Process	Regulation of centromeric sister chromatid cohesion	NAS	18550811
GO:0071459	Process	Protein localization to chromosome, centromeric region	IMP	26321640
GO:0071514	Process	Genomic imprinting	IDA	17827499
GO:0071514	Process	Genomic imprinting	IEA
GO:0140587	Function	Chromatin loop anchoring activity	IMP	34856126
GO:0140588	Process	Chromatin looping	IDA	18654629, 24662484
GO:0140588	Process	Chromatin looping	IEA
GO:0140588	Process	Chromatin looping	IMP	34856126
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	34856126

Other IDs

• MIM: 604167
• HGNC: 13723
• e!Ensembl: ENSG00000102974

Protein

• UniProt ID: P49711
• Protein name: Transcriptional repressor CTCF (11-zinc finger protein) (CCCTC-binding factor) (CTCFL paralog)
• Protein function: Chromatin binding factor that binds to DNA sequence specific sites and regulates the 3D structure of chromatin (PubMed:18347100, PubMed:18654629, PubMed:19322193). Binds together strands of DNA, thus forming chromatin loops, and anchors DNA to c
• PDB: 1X6H, 2CT1, 5K5H, 5K5I, 5K5J, 5K5L, 5KKQ, 5T00, 5T0U, 5UND, 5YEF, 5YEG, 5YEH, 5YEL, 6QNX, 7W1M, 8SSQ, 8SSR, 8SSS, 8SST, 8SSU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	266 → 288	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	294 → 316	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	322 → 345	Zinc finger, C2H2 type	Domain
  PF13909	zf-H2C2_5	351 → 375		Domain
  PF00096	zf-C2H2	379 → 401	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	437 → 460	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	555 → 575	Zinc finger, C2H2 type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Absent in primary spermatocytes. {ECO:0000269|PubMed:9591631}.
• Sequence:

  MEGDAVEAIVEESETFIKGKERKTYQRRREGGQEEDACHLPQNQTDGGEVVQDVNSSVQM
  VMMEQLDPTLLQMKTEVMEGTVAPEAEAAVDDTQIITLQVVNMEEQPINIGELQLVQVPV
  PVTVPVATTSVEELQGAYENEVSKEGLAESEPMICHTLPLPEGFQVVKVGANGEVETLEQ
  GELPPQEDPSWQKDPDYQPPAKKTKKTKKSKLRYTEEGKDVDVSVYDFEEEQQEGLLSEV
  NAEKVVGNMKPPKPTKIKKKGVKKTFQCELCSYTCPRRSNLDRHMKSHTDERPHKCHLCG
  RAFRTVTLLRNHLNTHTGTRPHKCPDCDMAFVTSGELVRHRRYKHTHEKPFKCSMCDYAS
  VEVSKLKRHIRSHTGERPFQCSLCSYASRDTYKLKRHMRTHSGEKPYECYICHARFTQSG
  TMKMHILQKHTENVAKFHCPHCDTVIARKSDLGVHLRKQHSYIEQGKKCRYCDAVFHERY
  ALIQHQKSHKNEKRFKCDQCDYACRQERHMIMHKRTHTGEKPYACSHCDKTFRQKQLLDM
  HFKRYHDPNFVPAAFVCSKCGKTFTRRNTMARHADNCAGPDGVEGENGGETKKSKRGRKR
  KMRSKKEDSSDSENAEPDLDDNEDEEEPAVEIEPEPEPQPVTPAPPPAKKRRGRPPGRTN
  QPKQNQPTAIIQVEDQNTGAIENIIVEVKKEPDAEPAEGEEEEAQPAATDAPNGDLTPEM
  ILSMMDR

• Sequence length: 727

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
Acute megakaryoblastic leukemia in down syndrome	Likely pathogenic	rs2052291685, rs2052320698	RCV001293758 RCV001293760	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alveolar rhabdomyosarcoma	Pathogenic	rs886041997	RCV006253936	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CTCF-related disorder	Pathogenic; Likely pathogenic	rs2142849782, rs776804939, rs1131691283, rs2052136913	RCV004738344 RCV004536741 RCV004535549 RCV001249458	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CTCF-related neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2142827936, rs2142847350, rs2142849782, rs1002125753, rs2142826609, rs2142823841, rs2142826656, rs2142828055, rs2142887156, rs2052136913, rs2142839453, rs1555535156, rs1259610303, rs2142847326, rs2142847343, rs2142847512, rs750256116, rs2142849459, rs2142824576, rs2142822830, rs2142849423, rs2543451915, rs2142839315, rs2543449850, rs1406671449, rs2543448397, rs1131691283, rs1555534147, rs1555534189, rs1567609067, rs1567608876, rs200677445, rs1597725291, rs879255570, rs879255571, rs879255516, rs1161257134, rs2052063931, rs2052056650	RCV001376022 RCV001375934 RCV001780408 RCV001780414 RCV002471133 RCV001785306 RCV001785307 RCV001785309 RCV001785310 RCV001785311 RCV001785312 RCV001785313 RCV001785314 RCV001785315 RCV001785316 RCV001785317 RCV001785318 RCV001785319 RCV001785320 RCV001785325 RCV001809164 RCV001843832 RCV002283836 RCV006259426 RCV003314152 RCV003315155 RCV003494053 RCV001253429 RCV001783119 RCV001784177 RCV000681644 RCV000767531 RCV000989614 RCV001002552 RCV000074333 RCV000074334 RCV000074335 RCV001254150 RCV001265578 RCV001293705	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CTCF-related syndromic intellectual disability	Likely pathogenic; Pathogenic	rs879255516	RCV002260512	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Desmoplastic/nodular medulloblastoma	Pathogenic	rs886041997	RCV003231428	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs1555534147, rs879255516, rs2052056277	RCV004798847 RCV004798770 RCV001260747	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs2142827936	RCV005912573 RCV005922474	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 21	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY, FEEDING DIFFICULTIES, DEVELOPMENTAL DELAY, MICROCEPHALY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME	—	ClinVar, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	-; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	21390130, 24393203, 30537513		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	24493669		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24393203, 30537513		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	23698277		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31262699, 31500627, 37302762	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32732921	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	35175239	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31757932		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	33597588	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	35085847	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	19584898	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	24015185		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	27848966, 29228930	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29228930		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	19322193	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31757932		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	32879140, 34279042	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	37334314	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	20733034		★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	15743916, 17158821, 18159214, 21282187, 24299031, 24996904, 26784546, 29484033		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	19513555		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	30503783	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11726548, 15492815		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	14503807, 15084242, 15354217, 15609312, 15958555, 18213475, 22142239, 23007606, 23908591, 24842653, 26478432, 28648147, 28819414, 29212169, 31292138, 31372638		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15084242, 18195709, 20661439, 22142239, 22277129, 23908591, 27638884, 31292138, 31372638, 31727847, 33436746, 35971249, 36037342, 36828916, 38236307, 38565950, 39913285	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15354217, 32503656	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	22064860	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26983574, 31534142	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16015666, 16391843, 22064860, 28319062		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	24842653	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26657029	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11726548, 15492815		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17260018, 21325284, 25592173, 27840277		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	21296871	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23390377	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35184402	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28319062, 36311770	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21296871, 28977939		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	26125810		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	26125810		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	24393203, 30537513		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31118277		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type II	Cockayne Syndrome	BEFREE	23028371		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11120891, 22427002, 29371978		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32865336, 35175239, 35240232, 37394872	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	33216750	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Myotonic Dystrophy	Congenital Myotonic Dystrophy	BEFREE	31326502		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28802249, 31837328		★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	23760082		★☆☆☆☆ Found in Text Mining only
CRANIOSYNOSTOSIS, TYPE 2	Craniosynostosis	BEFREE	23028371		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	37280154	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
CTCF-related neurodevelopmental disorder	Neurodevelopmental Disorders	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness Autosomal Dominant 21	Deafness	Pubtator	38054406	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	29056226	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33004838, 38054406	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	20016592, 21035756, 32747424, 32802835, 33535042	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27121852		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36633903	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	37895004	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	15354217		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	19322193	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	18654629, 19563753, 22354838, 23746550, 28135719, 28619046		★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	12588801		★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	26330387		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	24658009, 26330387, 28319062, 30513694		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	24130125, 26330387, 28319062, 37730563	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	29845264		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	21296871, 28977939		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	23874213		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	19956589, 24023969		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	24023969, 30464193		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	29056226		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	29670109, 33941236	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	31666694		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	16434968		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26983574		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26983574	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26983574		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26700815, 29549165, 33801310, 35390275	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	33133081, 36056390	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Slack Skin	Granulomatous Slack Skin	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	15941718	Stimulate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	23746550, 36847142	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	26747525		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	26747525	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28802249, 31837328		★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	26496499	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	15354217	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	29898989		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	39913285	Stimulate	★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	26496499		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23746550, 28619046, 29133437, 30377227, 30893510, 30940740		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	23746550		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	23746550, 28619046, 35459888, 36951113	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	14503807		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	21876668, 26154016, 31666380		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29467330		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24498324		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	37060567, 37365294, 37987160, 40355969	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	15941718	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	22976956, 28498449, 32232485, 32398790, 34405474, 34584081, 36411356	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Megakaryoblastic, of Down Syndrome	Leukemia, Megakaryoblastic, Of Down Syndrome	CTD_human_DG	24056718		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28498449, 29760161, 30876483, 30985763, 31831844		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	31228211		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27174533, 28862757, 30738580		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	16140944		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21325284, 23303185, 25592173	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	26880555, 40437445	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	16434968, 31033702		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	31655559	Associate	★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	29898989		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	26747525		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15084242, 15354217, 15609312, 15958555, 18213475, 22142239, 23007606, 23908591, 24842653, 26478432, 28648147, 28819414, 29212169, 31292138, 31372638		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	24658009, 26330387, 28319062, 30513694		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	27174533, 29670109		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	26657029		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17260018, 21325284, 25592173, 27840277		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19956846, 21296871, 28977939		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27174533, 31237042		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26938874, 30296942, 30400943, 30873749, 31562641, 31736271, 9591631		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	27974201		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11726548, 15492815		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12191639, 17950379, 18625744, 20101205, 21296871, 21811597, 22984562, 24657531, 24794443, 25499215, 26268681, 26548627, 26784546, 27490693, 27974201, 28104398, 28319062, 28819414, 28977939, 29760161, 29860503, 29898989, 30086769, 30513694, 30886832, 30940740, 31078526, 9591631		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	26125810		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	14503807, 15958555		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	17071074, 18195709		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	18625744		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27974201		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	27974201, 33941236, 34487363	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mental disorders	Mental Disorders	BEFREE	21494683		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	28619046		★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Recessive 7	Intellectual developmental disorder	Pubtator	38054406	Associate	★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21	Mental retardation	CLINGEN_DG	21725066, 22854024, 23746550, 23874213, 27880914, 28619046, 28848059		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21	Mental retardation	UNIPROT_DG	23746550		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21	Mental retardation	ORPHANET_DG	23746550		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21	Mental retardation	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	21494683	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	21494683		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	25499215		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	23746550	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	18654629, 19563753, 22354838, 23746550, 28135719, 28619046		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	18654629, 19563753, 22354838, 23746550, 28135719, 28619046		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	19247430, 21327102	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	19247430, 21327102		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	34789272	Associate	★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	24056718		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	11479593		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	34432028	Associate	★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	21044947		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	36371985, 37658588	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11782357, 12588801, 14503807, 15084242, 15354217, 15761865, 15958555, 16989720, 17071074, 17082775, 18213475, 18604514, 19450526, 20051228, 20101205, 20876690, 21150880, 21304052, 21663659, 22792300, 24534946, 24563233, 24657531, 24794443, 25499215, 26330387, 26496499, 26784546, 26833217, 27490693, 28319062, 28862757, 28977939, 29029387, 29212169, 29398485, 30060743, 30513694, 30873749, 31736271, 9591631		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	11431321, 15743916, 23825673, 24534946		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	27153397, 30377227		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26549029, 29398485		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32216806	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29056226, 33411704	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29056226		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29110030, 30377227, 30893510, 31239556		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	24842653		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	24015185		★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	12588801		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12588801		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29339716	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21296871, 28977939		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20876690, 21296871, 29802231	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31237042		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	21494683	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	29486295, 35168626	Associate	★☆☆☆☆ Found in Text Mining only
POLYCYSTIC KIDNEY DISEASE 1	Polycystic kidney disease	BEFREE	31757932		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	28671688		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19513555, 26938874, 30296942, 30400943, 30873749, 31562641, 31736271		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25499215, 26938874, 30296942, 30400943, 31515496, 31736271, 33941236, 34849858, 36997534	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	9591631		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	17122106		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	28796949		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	36652535	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	37882064	Associate	★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	18159214, 21282187		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	31666380	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	24901509, 30377227, 30737407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	24901509		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septicemia	Septicemia	BEFREE	30212590		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	31228211		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	27974201, 34487363	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Autosomal Recessive 2	Spinocerebellar ataxia	Pubtator	34487363	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	19008940		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	17071074, 24842653		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18604514		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30933315	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	16391843		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37606370	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	26496499		★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	BEFREE	19584898		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	28848059		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35499320, 35513575, 38017545	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23884423, 26125810	Associate	★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	26166478		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	26166478	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	15743916, 27152123, 35459888	Associate	★☆☆☆☆ Found in Text Mining only