ZEB2 (zinc finger E-box binding homeobox 2)

Gene

• Entrez ID: 9839
• Gene name: Zinc finger E-box binding homeobox 2
• Gene symbol: ZEB2
• Synonyms (NCBI Gene): HSPC082, SIP-1, SIP1, SMADIP1, ZFHX1B
• Chromosome: 2
• Chromosome location: 2q22.3
• Summary: The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6711223	G>A,T	Likely-benign, pathogenic, benign	Genic downstream transcript variant, coding sequence variant, stop gained, synonymous variant
rs111724246	G>C,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs137852980	T>A,G	Pathogenic	Synonymous variant, stop gained, coding sequence variant, genic downstream transcript variant
rs137852981	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs137852982	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant, genic downstream transcript variant
rs137852983	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs139944383	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs141674976	C>A,T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs146394306	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs147693839	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs149882004	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs185223937	T>A,C	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs199951665	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs201109457	T>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs397515448	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs397515449	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs398124274	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs398124275	->G	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398124276	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398124277	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398124278	->GAGT	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398124280	AGTACC>CATTA	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398124281	TAGCCCCGGTCGCAGTA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398124282	A>G	Pathogenic, likely-pathogenic	Splice donor variant
rs398124283	AC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398124284	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs587776603	GTTT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs587776604	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs587776605	TG>-,TGTG	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs587776606	->A	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs587776607	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs587776608	->CA	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs587776609	->GG	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs587776610	TGT>-	Pathogenic, uncertain-significance	Inframe deletion, genic downstream transcript variant, coding sequence variant
rs587776611	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs587776612	C>T	Pathogenic	Splice acceptor variant
rs587784563	G>A,T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, synonymous variant
rs587784565	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs587784566	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs587784568	TGGCGTGCCAAGGCGAGAC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs587784570	G>A,C	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs587784571	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs727503784	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs727504223	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs727504224	C>A,T	Pathogenic, uncertain-significance	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs727504226	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs727504228	C>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs730881186	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, intron variant
rs730881208	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs730881209	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs730881211	GA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs730881212	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs730881213	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs730881215	TAGCTGGACTCGT>AAC	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs730881217	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs730881218	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs756686919	G>A,C,T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs778851716	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs786200997	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786203990	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786203991	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786203992	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786203993	C>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs786204801	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786204802	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs786204803	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786204804	->GT	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786204805	TGGTTCTGTTT>CATTAATTTTAAGTCA	Pathogenic	Coding sequence variant, inframe indel, stop gained, genic downstream transcript variant
rs786204806	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786204807	A>C	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs786204808	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs786204809	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786204810	AA>-,A	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786204811	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786204812	AGAGCTT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786204813	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs786204814	CCTGG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786204815	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs786204816	CCCTCGGCAT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786204817	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786204818	AT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786204819	T>-	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs786204820	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786204821	AAGA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs794727924	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs797046117	A>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs797046118	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs797046119	AGTG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs797046120	A>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs797046121	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs797046122	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs863224942	C>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs878853016	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs878855329	GGTTTGG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs886039655	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886041338	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs886041489	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant
rs886041601	->TG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886041698	G>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs886041989	G>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs886044396	A>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057518156	G>C	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1057518185	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1057518193	TCAT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1060499770	ACCCTCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1060500653	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1114167349	T>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1131691309	->A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, intron variant
rs1131691714	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1131691756	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1131691912	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1135401790	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1135402759	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1423851170	G>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1553960776	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553960778	G>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553960788	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553960793	T>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553961332	A>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553961343	CT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553961487	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553961510	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553961516	G>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553961580	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553961585	->GGAG	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553961598	->TGGGAGCTAACGGCTTGGAGCTTCTTTCCAGGGATGGGGACCTGGAATTTGAGTACTGGTAGACTTTTCGTTGTTCAAACCATTCCTTCACAAATTCCTGAGGAAGGCCCACAGC	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, inframe indel
rs1553961610	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553961655	C>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553961660	G>C	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553961695	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553961697	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553961702	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553961705	A>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553961746	GTTTT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553961747	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553961749	->AAGT	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, inframe indel
rs1553961777	T>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553962048	GT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553962069	C>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, missense variant
rs1553962198	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553964145	->C	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553964147	CA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553971826	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1560602156	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1560602214	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1560604977	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1560605892	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1560606294	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1560606974	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1560607925	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1560609721	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1560609810	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1560618505	A>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, stop gained
rs1560620837	GGCA>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1573708153	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1573708180	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1573713430	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1573713477	ATACATGC>-	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1573715510	->AG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1573716158	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1573716795	G>C	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1573717173	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1573717593	GAAGAA>TTCTT	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1573717685	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1573718595	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1573718600	TC>AT	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1573718630	CT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1573721065	TC>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1573721242	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1573722122	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1573722407	CTGAT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1573743888	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1573743951	AC>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000316	hsa-miR-141-3p	qRT-PCR	18925646
MIRT000316	hsa-miR-141-3p	qRT-PCR	18925646
MIRT001036	hsa-miR-200c-3p	qRT-PCR	18925646
MIRT001036	hsa-miR-200c-3p	qRT-PCR	18925646
MIRT001035	hsa-miR-200a-3p	qRT-PCR, Western blot	19703993
MIRT001036	hsa-miR-200c-3p	qRT-PCR, Luciferase reporter assay, Western blot	18381893
MIRT001035	hsa-miR-200a-3p	qRT-PCR, Luciferase reporter assay, Western blot	18381893
MIRT001035	hsa-miR-200a-3p	Review	19574400
MIRT001035	hsa-miR-200a-3p	Review	19574400
MIRT001036	hsa-miR-200c-3p	Review	19574400
MIRT001036	hsa-miR-200c-3p	Review	19574400
MIRT000723	hsa-miR-200b-3p	Review	19574400
MIRT000723	hsa-miR-200b-3p	Review	19574400
MIRT000316	hsa-miR-141-3p	Luciferase reporter assay	19854497
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay	18829540
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay	19854497
MIRT000723	hsa-miR-200b-3p	Luciferase reporter assay	18829540
MIRT000723	hsa-miR-200b-3p	Luciferase reporter assay	19839049
MIRT000723	hsa-miR-200b-3p	Luciferase reporter assay	19854497
MIRT001036	hsa-miR-200c-3p	Luciferase reporter assay	19839049
MIRT001036	hsa-miR-200c-3p	Luciferase reporter assay	19854497
MIRT000048	hsa-miR-429	Luciferase reporter assay	18829540
MIRT000048	hsa-miR-429	Luciferase reporter assay	19854497
MIRT003666	hsa-miR-205-5p	immunoblot, qRT-PCR	19244118
MIRT003666	hsa-miR-205-5p	immunoblot, qRT-PCR	19244118
MIRT001035	hsa-miR-200a-3p	qRT-PCR	19854497
MIRT000723	hsa-miR-200b-3p	qRT-PCR	19854497
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay	19854497
MIRT000723	hsa-miR-200b-3p	Luciferase reporter assay	19854497
MIRT000048	hsa-miR-429	intrarenal expression	19910931
MIRT001035	hsa-miR-200a-3p	intrarenal expression	19910931
MIRT000723	hsa-miR-200b-3p	intrarenal expression	19910931
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	19931509
MIRT000048	hsa-miR-429	Review	20130964
MIRT003666	hsa-miR-205-5p	Review	20026422
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR	19854497
MIRT000723	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR	19854497
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR	18411277
MIRT000723	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR	18411277
MIRT000048	hsa-miR-429	Luciferase reporter assay, qRT-PCR	18411277
MIRT000316	hsa-miR-141-3p	Luciferase reporter assay, qRT-PCR	18411277
MIRT001036	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR	18411277
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, Microarray, Western blot	18376396
MIRT000723	hsa-miR-200b-3p	Luciferase reporter assay, Microarray, Western blot	18376396
MIRT003666	hsa-miR-205-5p	Luciferase reporter assay, Microarray, Western blot	18376396
MIRT000316	hsa-miR-141-3p	Luciferase reporter assay, qRT-PCR, Western blot	19830559
MIRT000316	hsa-miR-141-3p	Luciferase reporter assay, qRT-PCR, Western blot	19830559
MIRT001036	hsa-miR-200c-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	21294122
MIRT001036	hsa-miR-200c-3p	Luciferase reporter assay	20620960
MIRT001036	hsa-miR-200c-3p	Luciferase reporter assay	20620960
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21049046
MIRT000723	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	21049046
MIRT001036	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR, Western blot	21049046
MIRT000723	hsa-miR-200b-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT001035	hsa-miR-200a-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT001036	hsa-miR-200c-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT006035	hsa-miR-203a-3p	Immunoblot, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	21159887
MIRT001035	hsa-miR-200a-3p	qRT-PCR, Western blot	21389093
MIRT000723	hsa-miR-200b-3p	qRT-PCR, Western blot	21389093
MIRT001036	hsa-miR-200c-3p	qRT-PCR, Western blot	21389093
MIRT006140	hsa-miR-708-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21852381
MIRT006140	hsa-miR-708-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21852381
MIRT001036	hsa-miR-200c-3p	qRT-PCR, Western blot	21874049
MIRT000723	hsa-miR-200b-3p	Luciferase reporter assay	22311119
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21529905
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21529905
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21529905
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21529905
MIRT000723	hsa-miR-200b-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT001035	hsa-miR-200a-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT001036	hsa-miR-200c-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT006035	hsa-miR-203a-3p	Immunoblot, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	21159887
MIRT001035	hsa-miR-200a-3p	qRT-PCR, Western blot	21389093
MIRT000723	hsa-miR-200b-3p	qRT-PCR, Western blot	21389093
MIRT001036	hsa-miR-200c-3p	qRT-PCR, Western blot	21389093
MIRT006140	hsa-miR-708-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21852381
MIRT006140	hsa-miR-708-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21852381
MIRT001036	hsa-miR-200c-3p	qRT-PCR, Western blot	21874049
MIRT000723	hsa-miR-200b-3p	Luciferase reporter assay	22311119
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21529905
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21529905
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21529905
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21529905
MIRT000723	hsa-miR-200b-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT001035	hsa-miR-200a-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT001036	hsa-miR-200c-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT006035	hsa-miR-203a-3p	Immunoblot, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	21159887
MIRT001035	hsa-miR-200a-3p	qRT-PCR, Western blot	21389093
MIRT000723	hsa-miR-200b-3p	qRT-PCR, Western blot	21389093
MIRT001036	hsa-miR-200c-3p	qRT-PCR, Western blot	21389093
MIRT006140	hsa-miR-708-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21852381
MIRT006140	hsa-miR-708-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21852381
MIRT001036	hsa-miR-200c-3p	qRT-PCR, Western blot	21874049
MIRT000723	hsa-miR-200b-3p	Luciferase reporter assay	22311119
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21529905
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21529905
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21529905
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21529905
MIRT001036	hsa-miR-200c-3p	Luciferase reporter assay, Western blot	22569286
MIRT007099	hsa-miR-153-3p	Luciferase reporter assay, qRT-PCR, Western blot	23188671
MIRT001035	hsa-miR-200a-3p	Western blot;qRT-PCR	19931509
MIRT021691	hsa-miR-138-5p	Reporter assay;qRT-PCR	21770894
MIRT024209	hsa-miR-221-3p	Reporter assay;Western blot;qRT-PCR	20516212
MIRT047309	hsa-miR-181a-5p	CLASH	23622248
MIRT044428	hsa-miR-320a	CLASH	23622248
MIRT000316	hsa-miR-141-3p	Luciferase reporter assay	24245745
MIRT000723	hsa-miR-200b-3p	qRT-PCR	22294131
MIRT052961	hsa-miR-215-5p	Microarray, qRT-PCR, Western blot	22033272
MIRT053133	hsa-miR-335-5p	Luciferase reporter assay, qRT-PCR, Western blot	24829139
MIRT001035	hsa-miR-200a-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	23386720
MIRT000723	hsa-miR-200b-3p	In situ hybridization, qRT-PCR, Western blot	22012804
MIRT001036	hsa-miR-200c-3p	Microarray	23807165
MIRT001035	hsa-miR-200a-3p	Immunofluorescence, Immunohistochemistry, In situ hybridization, qRT-PCR, Western blot	23381389
MIRT000723	hsa-miR-200b-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, Western blot	25270520
MIRT000723	hsa-miR-200b-3p	Immunohistochemistry, Microarray, qRT-PCR, Western blot	25411357
MIRT001036	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR, Western blot	25502084
MIRT001036	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR, Western blot	25502084
MIRT000316	hsa-miR-141-3p	Luciferase reporter assay, qRT-PCR, Western blot	25502084
MIRT000316	hsa-miR-141-3p	Luciferase reporter assay, qRT-PCR, Western blot	25502084
MIRT054444	hsa-miR-4782-3p	Luciferase reporter assay, qRT-PCR, Western blot	24556800
MIRT054444	hsa-miR-4782-3p	Luciferase reporter assay, qRT-PCR, Western blot	24556800
MIRT001035	hsa-miR-200a-3p	Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24518294
MIRT001035	hsa-miR-200a-3p	Immunofluorescence, Microarray, qRT-PCR, Western blot	22012804
MIRT001035	hsa-miR-200a-3p	Immunoblot, In situ hybridization, Microarray	24280074
MIRT054930	hsa-miR-101-3p	Immunofluorescence, Luciferase reporter assay, Western blot	24677166
MIRT003666	hsa-miR-205-5p	ChIP-seq, LacZ reporter assay	23474752
MIRT003666	hsa-miR-205-5p	ChIP-seq, LacZ reporter assay	23474752
MIRT003666	hsa-miR-205-5p	ChIP-seq, LacZ reporter assay	23474752
MIRT000723	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	23408168
MIRT000723	hsa-miR-200b-3p	Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24769353
MIRT000723	hsa-miR-200b-3p	Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24769353
MIRT001035	hsa-miR-200a-3p	qRT-PCR, Western blot	24127332
MIRT001035	hsa-miR-200a-3p	qRT-PCR, Western blot	24127332
MIRT001036	hsa-miR-200c-3p	qRT-PCR, Western blot	24127332
MIRT438341	hsa-miR-338-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	25945841
MIRT438341	hsa-miR-338-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	25945841
MIRT000316	hsa-miR-141-3p	Luciferase reporter assay, qRT-PCR, Western blot	25975736
MIRT000316	hsa-miR-141-3p	Luciferase reporter assay, qRT-PCR, Western blot	25975736
MIRT001035	hsa-miR-200a-3p	qRT-PCR, Western blot	24127332
MIRT001035	hsa-miR-200a-3p	qRT-PCR, Western blot	24127332
MIRT001036	hsa-miR-200c-3p	qRT-PCR, Western blot	24127332
MIRT438341	hsa-miR-338-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	25945841
MIRT438341	hsa-miR-338-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	25945841
MIRT000316	hsa-miR-141-3p	Luciferase reporter assay, qRT-PCR, Western blot	25975736
MIRT000316	hsa-miR-141-3p	Luciferase reporter assay, qRT-PCR, Western blot	25975736
MIRT439136	hsa-let-7d-5p	TRAP	24510096
MIRT439109	hsa-miR-125a-5p	TRAP	24510096
MIRT000316	hsa-miR-141-3p	TRAP	24510096
MIRT439106	hsa-miR-16-5p	TRAP	24510096
MIRT001036	hsa-miR-200c-3p	TRAP	24510096
MIRT439100	hsa-miR-222-3p	TRAP	24510096
MIRT439098	hsa-miR-30c-5p	TRAP	24510096
MIRT439095	hsa-miR-30e-5p	TRAP	24510096
MIRT439094	hsa-miR-34a-5p	TRAP	24510096
MIRT439136	hsa-let-7d-5p	TRAP	24510096
MIRT439109	hsa-miR-125a-5p	TRAP	24510096
MIRT000316	hsa-miR-141-3p	TRAP	24510096
MIRT439106	hsa-miR-16-5p	TRAP	24510096
MIRT001036	hsa-miR-200c-3p	TRAP	24510096
MIRT439100	hsa-miR-222-3p	TRAP	24510096
MIRT439098	hsa-miR-30c-5p	TRAP	24510096
MIRT439095	hsa-miR-30e-5p	TRAP	24510096
MIRT439094	hsa-miR-34a-5p	TRAP	24510096
MIRT000723	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	26648487
MIRT000723	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	26648487
MIRT731798	hsa-miR-144-3p	Luciferase reporter assay, qRT-PCR, Western blot	27785072
MIRT731798	hsa-miR-144-3p	Luciferase reporter assay, qRT-PCR, Western blot	27785072
MIRT000048	hsa-miR-429	Luciferase reporter assay, qRT-PCR, Western blot	26472725
MIRT000048	hsa-miR-429	Luciferase reporter assay, qRT-PCR, Western blot	26472725
MIRT000723	hsa-miR-200b-3p	Western blot	27373709
MIRT203612	hsa-miR-590-3p	Luciferase reporter assay, qRT-PCR, Western blot	26556542
MIRT203612	hsa-miR-590-3p	Luciferase reporter assay, qRT-PCR, Western blot	26556542
MIRT054930	hsa-miR-101-3p	Microarray	28416776
MIRT054930	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	28109909
MIRT000316	hsa-miR-141-3p	Microarray, RNA-seq, qRT-PCR	31665050
MIRT003666	hsa-miR-205-5p	Microarray, RNA-seq, qRT-PCR	31665050
MIRT000723	hsa-miR-200b-3p	Microarray, RNA-seq, qRT-PCR	31665050
MIRT000723	hsa-miR-200b-3p	Microarray, RNA-seq, qRT-PCR	31665050
MIRT732779	hsa-miR-132-3p	Western blotting, qRT-PCR, Flow cytometry	32500672
MIRT735581	hsa-miR-545-3p	Luciferase reporter assay, Western blotting, qRT-PCR, ELISA	32104945
MIRT736050	hsa-miR-192-5p	Western blotting, qRT-PCR	33066331
MIRT439100	hsa-miR-222-3p	Western blotting, qRT-PCR	34018840
MIRT736670	hsa-miR-493-5p	Luciferase reporter assay, Western blotting, qRT-PCR	32463882
MIRT737400	hsa-miR-124-3p	Luciferase reporter assay, RNA-seq, qRT-PCR	32046742
MIRT736050	hsa-miR-192-5p	Luciferase reporter assay, Western blotting, qRT-PCR	34880446
MIRT000723	hsa-miR-200b-3p	Luciferase reporter assay, Western blotting, qRT-PCR	34880446
MIRT001035	hsa-miR-200a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	34880446
MIRT000723	hsa-miR-200b-3p	Western blotting, qRT-PCR	37681509
MIRT756206	hsa-miR-30a-5p	Western blotting, Microarray, qRT-PCR	37915096
MIRT006035	hsa-miR-203a-3p	qRT-PCR	35453574
MIRT1509255	hsa-miR-1301	CLIP-seq
MIRT1509256	hsa-miR-3622a-3p	CLIP-seq
MIRT1509257	hsa-miR-3622b-3p	CLIP-seq
MIRT1509258	hsa-miR-3671	CLIP-seq
MIRT1509259	hsa-miR-4457	CLIP-seq
MIRT1509260	hsa-miR-4520a-3p	CLIP-seq
MIRT1509261	hsa-miR-4520b-3p	CLIP-seq
MIRT1509262	hsa-miR-4660	CLIP-seq
MIRT1509263	hsa-miR-4661-5p	CLIP-seq
MIRT1509264	hsa-miR-4679	CLIP-seq
MIRT1509265	hsa-miR-5047	CLIP-seq
MIRT1509266	hsa-miR-5096	CLIP-seq
MIRT1509267	hsa-miR-513b	CLIP-seq
MIRT1509268	hsa-miR-556-3p	CLIP-seq
MIRT1509269	hsa-miR-1245b-5p	CLIP-seq
MIRT1509270	hsa-miR-1295	CLIP-seq
MIRT1509271	hsa-miR-129-5p	CLIP-seq
MIRT1509272	hsa-miR-141	CLIP-seq
MIRT1509273	hsa-miR-200a	CLIP-seq
MIRT1509274	hsa-miR-3142	CLIP-seq
MIRT1509275	hsa-miR-3150a-5p	CLIP-seq
MIRT1509276	hsa-miR-3150b-5p	CLIP-seq
MIRT1509277	hsa-miR-3653	CLIP-seq
MIRT1509278	hsa-miR-3658	CLIP-seq
MIRT1509279	hsa-miR-3921	CLIP-seq
MIRT1509280	hsa-miR-410	CLIP-seq
MIRT1509281	hsa-miR-4282	CLIP-seq
MIRT1509282	hsa-miR-4328	CLIP-seq
MIRT1509283	hsa-miR-4424	CLIP-seq
MIRT1509284	hsa-miR-4474-5p	CLIP-seq
MIRT1509260	hsa-miR-4520a-3p	CLIP-seq
MIRT1509261	hsa-miR-4520b-3p	CLIP-seq
MIRT1509285	hsa-miR-4539	CLIP-seq
MIRT1509286	hsa-miR-4653-5p	CLIP-seq
MIRT1509263	hsa-miR-4661-5p	CLIP-seq
MIRT1509287	hsa-miR-513a-3p	CLIP-seq
MIRT1509288	hsa-miR-548aa	CLIP-seq
MIRT1509289	hsa-miR-548ac	CLIP-seq
MIRT1509290	hsa-miR-548d-3p	CLIP-seq
MIRT1509291	hsa-miR-548z	CLIP-seq
MIRT1509292	hsa-miR-582-5p	CLIP-seq
MIRT1509293	hsa-miR-593	CLIP-seq
MIRT1509281	hsa-miR-4282	CLIP-seq
MIRT2153392	hsa-miR-1305	CLIP-seq
MIRT2153393	hsa-miR-1825	CLIP-seq
MIRT2153394	hsa-miR-199a-5p	CLIP-seq
MIRT2153395	hsa-miR-199b-5p	CLIP-seq
MIRT1509277	hsa-miR-3653	CLIP-seq
MIRT1509278	hsa-miR-3658	CLIP-seq
MIRT1509258	hsa-miR-3671	CLIP-seq
MIRT2153396	hsa-miR-3942-3p	CLIP-seq
MIRT2153397	hsa-miR-4307	CLIP-seq
MIRT2153398	hsa-miR-4519	CLIP-seq
MIRT2153399	hsa-miR-4659a-3p	CLIP-seq
MIRT2153400	hsa-miR-4659b-3p	CLIP-seq
MIRT2153401	hsa-miR-4716-5p	CLIP-seq
MIRT2153402	hsa-miR-498	CLIP-seq
MIRT2153403	hsa-miR-576-5p	CLIP-seq
MIRT2153404	hsa-miR-577	CLIP-seq
MIRT2153405	hsa-miR-656	CLIP-seq
MIRT2153392	hsa-miR-1305	CLIP-seq
MIRT2373673	hsa-miR-1913	CLIP-seq
MIRT2373674	hsa-miR-3127-3p	CLIP-seq
MIRT2373675	hsa-miR-324-3p	CLIP-seq
MIRT2373676	hsa-miR-4313	CLIP-seq
MIRT2153398	hsa-miR-4519	CLIP-seq
MIRT2373677	hsa-miR-487a	CLIP-seq
MIRT2153402	hsa-miR-498	CLIP-seq
MIRT1509281	hsa-miR-4282	CLIP-seq
MIRT2463894	hsa-miR-297	CLIP-seq
MIRT2463895	hsa-miR-4652-3p	CLIP-seq
MIRT2463896	hsa-miR-501-5p	CLIP-seq
MIRT2463897	hsa-miR-567	CLIP-seq
MIRT2666343	hsa-miR-1236	CLIP-seq
MIRT2666344	hsa-miR-1243	CLIP-seq
MIRT2666345	hsa-miR-1263	CLIP-seq
MIRT2666346	hsa-miR-1273d	CLIP-seq
MIRT2666347	hsa-miR-127-5p	CLIP-seq
MIRT2153392	hsa-miR-1305	CLIP-seq
MIRT2666348	hsa-miR-138	CLIP-seq
MIRT1509272	hsa-miR-141	CLIP-seq
MIRT2666349	hsa-miR-142-3p	CLIP-seq
MIRT2666350	hsa-miR-153	CLIP-seq
MIRT2666351	hsa-miR-154	CLIP-seq
MIRT2666352	hsa-miR-183	CLIP-seq
MIRT2666353	hsa-miR-19a	CLIP-seq
MIRT2666354	hsa-miR-19b	CLIP-seq
MIRT1509273	hsa-miR-200a	CLIP-seq
MIRT2666355	hsa-miR-223	CLIP-seq
MIRT2666356	hsa-miR-2392	CLIP-seq
MIRT2666357	hsa-miR-25	CLIP-seq
MIRT2666358	hsa-miR-298	CLIP-seq
MIRT2666359	hsa-miR-302f	CLIP-seq
MIRT2666360	hsa-miR-30a	CLIP-seq
MIRT2666361	hsa-miR-30b	CLIP-seq
MIRT2666362	hsa-miR-30c	CLIP-seq
MIRT2666363	hsa-miR-30d	CLIP-seq
MIRT2666364	hsa-miR-30e	CLIP-seq
MIRT2666365	hsa-miR-3119	CLIP-seq
MIRT2373674	hsa-miR-3127-3p	CLIP-seq
MIRT2666366	hsa-miR-3133	CLIP-seq
MIRT2666367	hsa-miR-3148	CLIP-seq
MIRT2666368	hsa-miR-3152-5p	CLIP-seq
MIRT2666369	hsa-miR-32	CLIP-seq
MIRT2666370	hsa-miR-320e	CLIP-seq
MIRT2666371	hsa-miR-33a	CLIP-seq
MIRT2666372	hsa-miR-33b	CLIP-seq
MIRT2666373	hsa-miR-3613-3p	CLIP-seq
MIRT2666374	hsa-miR-3622a-5p	CLIP-seq
MIRT2666375	hsa-miR-363	CLIP-seq
MIRT2666376	hsa-miR-3654	CLIP-seq
MIRT2666377	hsa-miR-367	CLIP-seq
MIRT2666378	hsa-miR-3678-3p	CLIP-seq
MIRT2666379	hsa-miR-380	CLIP-seq
MIRT2666380	hsa-miR-3977	CLIP-seq
MIRT2153397	hsa-miR-4307	CLIP-seq
MIRT2666381	hsa-miR-4464	CLIP-seq
MIRT2666382	hsa-miR-4476	CLIP-seq
MIRT2666383	hsa-miR-448	CLIP-seq
MIRT2666384	hsa-miR-4495	CLIP-seq
MIRT2153398	hsa-miR-4519	CLIP-seq
MIRT2666385	hsa-miR-4521	CLIP-seq
MIRT2666386	hsa-miR-4666-5p	CLIP-seq
MIRT2666387	hsa-miR-4697-3p	CLIP-seq
MIRT2153401	hsa-miR-4716-5p	CLIP-seq
MIRT2666388	hsa-miR-4748	CLIP-seq
MIRT2666389	hsa-miR-4773	CLIP-seq
MIRT2666390	hsa-miR-4792	CLIP-seq
MIRT2666391	hsa-miR-4804-3p	CLIP-seq
MIRT2153402	hsa-miR-498	CLIP-seq
MIRT2666392	hsa-miR-517b	CLIP-seq
MIRT2666393	hsa-miR-518a-5p	CLIP-seq
MIRT2666394	hsa-miR-527	CLIP-seq
MIRT2666395	hsa-miR-548ag	CLIP-seq
MIRT2666396	hsa-miR-548ai	CLIP-seq
MIRT2666397	hsa-miR-548k	CLIP-seq
MIRT2666398	hsa-miR-548m	CLIP-seq
MIRT2666399	hsa-miR-548n	CLIP-seq
MIRT2666400	hsa-miR-548q	CLIP-seq
MIRT2666401	hsa-miR-586	CLIP-seq
MIRT2666402	hsa-miR-624	CLIP-seq
MIRT2153405	hsa-miR-656	CLIP-seq
MIRT2666403	hsa-miR-875-3p	CLIP-seq
MIRT2666404	hsa-miR-92a	CLIP-seq
MIRT2666405	hsa-miR-92b	CLIP-seq
MIRT1509272	hsa-miR-141	CLIP-seq
MIRT1509273	hsa-miR-200a	CLIP-seq
MIRT2666343	hsa-miR-1236	CLIP-seq
MIRT2666346	hsa-miR-1273d	CLIP-seq
MIRT2666347	hsa-miR-127-5p	CLIP-seq
MIRT2153392	hsa-miR-1305	CLIP-seq
MIRT2666348	hsa-miR-138	CLIP-seq
MIRT1509272	hsa-miR-141	CLIP-seq
MIRT2666350	hsa-miR-153	CLIP-seq
MIRT2666352	hsa-miR-183	CLIP-seq
MIRT2666353	hsa-miR-19a	CLIP-seq
MIRT2666354	hsa-miR-19b	CLIP-seq
MIRT1509273	hsa-miR-200a	CLIP-seq
MIRT2666356	hsa-miR-2392	CLIP-seq
MIRT2666357	hsa-miR-25	CLIP-seq
MIRT2666358	hsa-miR-298	CLIP-seq
MIRT2666359	hsa-miR-302f	CLIP-seq
MIRT2666366	hsa-miR-3133	CLIP-seq
MIRT2666369	hsa-miR-32	CLIP-seq
MIRT2666370	hsa-miR-320e	CLIP-seq
MIRT2666373	hsa-miR-3613-3p	CLIP-seq
MIRT2666374	hsa-miR-3622a-5p	CLIP-seq
MIRT2666375	hsa-miR-363	CLIP-seq
MIRT2666377	hsa-miR-367	CLIP-seq
MIRT2666378	hsa-miR-3678-3p	CLIP-seq
MIRT2666380	hsa-miR-3977	CLIP-seq
MIRT2153397	hsa-miR-4307	CLIP-seq
MIRT2666381	hsa-miR-4464	CLIP-seq
MIRT2666383	hsa-miR-448	CLIP-seq
MIRT2153398	hsa-miR-4519	CLIP-seq
MIRT2666386	hsa-miR-4666-5p	CLIP-seq
MIRT2153401	hsa-miR-4716-5p	CLIP-seq
MIRT2666388	hsa-miR-4748	CLIP-seq
MIRT2666389	hsa-miR-4773	CLIP-seq
MIRT2666390	hsa-miR-4792	CLIP-seq
MIRT2666391	hsa-miR-4804-3p	CLIP-seq
MIRT2153402	hsa-miR-498	CLIP-seq
MIRT2666392	hsa-miR-517b	CLIP-seq
MIRT2666393	hsa-miR-518a-5p	CLIP-seq
MIRT2666394	hsa-miR-527	CLIP-seq
MIRT2666395	hsa-miR-548ag	CLIP-seq
MIRT2666396	hsa-miR-548ai	CLIP-seq
MIRT2666397	hsa-miR-548k	CLIP-seq
MIRT2666398	hsa-miR-548m	CLIP-seq
MIRT2666399	hsa-miR-548n	CLIP-seq
MIRT2666400	hsa-miR-548q	CLIP-seq
MIRT2666402	hsa-miR-624	CLIP-seq
MIRT2666404	hsa-miR-92a	CLIP-seq
MIRT2666405	hsa-miR-92b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PCGF2	Repression	23474752

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	12837246, 20516212
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	24769727
GO:0000785	Component	Chromatin	IDA	20516212
GO:0000785	Component	Chromatin	ISA
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	20516212
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	20516212
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001755	Process	Neural crest cell migration	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0001935	Process	Endothelial cell proliferation	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	26028330
GO:0005634	Component	Nucleus	IDA	24769727
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007399	Process	Nervous system development	NAS	11279515
GO:0007417	Process	Central nervous system development	IBA
GO:0007417	Process	Central nervous system development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010764	Process	Negative regulation of fibroblast migration	IEA
GO:0019208	Function	Phosphatase regulator activity	NAS	11477103
GO:0021540	Process	Corpus callosum morphogenesis	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021846	Process	Cell proliferation in forebrain	IEA
GO:0021957	Process	Corticospinal tract morphogenesis	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IMP	30592286
GO:0036446	Process	Myofibroblast differentiation	IEA
GO:0043149	Process	Stress fiber assembly	IEA
GO:0043542	Process	Endothelial cell migration	IEA
GO:0045636	Process	Positive regulation of melanocyte differentiation	IEA
GO:0045636	Process	Positive regulation of melanocyte differentiation	ISS	24769727
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	24769727
GO:0046872	Function	Metal ion binding	IEA
GO:0048023	Process	Positive regulation of melanin biosynthetic process	IC	24769727
GO:0048023	Process	Positive regulation of melanin biosynthetic process	IEA
GO:0048066	Process	Developmental pigmentation	IEA
GO:0048066	Process	Developmental pigmentation	ISS	24769727
GO:0048143	Process	Astrocyte activation	IEA
GO:0048598	Process	Embryonic morphogenesis	IEA
GO:0048668	Process	Collateral sprouting	IEA
GO:0050772	Process	Positive regulation of axonogenesis	IEA
GO:0061373	Process	Mammillary axonal complex development	IEA
GO:0070269	Process	Pyroptotic inflammatory response	IEA
GO:0070412	Function	R-SMAD binding	IEA
GO:0072537	Process	Fibroblast activation	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IMP	30592286
GO:0090649	Process	Response to oxygen-glucose deprivation	IEA
GO:0097324	Process	Melanocyte migration	IEA
GO:0097324	Process	Melanocyte migration	ISS	24769727
GO:1902748	Process	Positive regulation of lens fiber cell differentiation	IEA
GO:1903056	Process	Regulation of melanosome organization	IEA
GO:1903056	Process	Regulation of melanosome organization	ISS	24769727
GO:1904330	Process	Positive regulation of myofibroblast contraction	IEA
GO:1904520	Process	Regulation of myofibroblast cell apoptotic process	IEA
GO:1905603	Process	Regulation of blood-brain barrier permeability	IEA

Other IDs

• MIM: 605802
• HGNC: 14881
• e!Ensembl: ENSG00000169554

Protein

• UniProt ID: O60315
• Protein name: Zinc finger E-box-binding homeobox 2 (Smad-interacting protein 1) (SMADIP1) (Zinc finger homeobox protein 1b)
• Protein function: Transcriptional inhibitor that binds to DNA sequence 5'-CACCT-3' in different promoters (PubMed:16061479, PubMed:20516212). Represses transcription of E-cadherin (PubMed:16061479). Represses expression of MEOX2 (PubMed:20516212). {ECO:0000269|Pu
• PDB: 2DA7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05605	zf-Di19	209 → 270	Drought induced 19 protein (Di19), zinc-binding	Domain
  PF00096	zf-C2H2	282 → 304	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	310 → 331	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	1055 → 1076	Zinc finger, C2H2 type	Domain

• Sequence:

  MKQPIMADGPRCKRRKQANPRRKNVVNYDNVVDTGSETDEEDKLHIAEDDGIANPLDQET
  SPASVPNHESSPHVSQALLPREEEEDEIREGGVEHPWHNNEILQASVDGPEEMKEDYDTM
  GPEATIQTAINNGTVKNANCTSDFEEYFAKRKLEERDGHAVSIEEYLQRSDTAIIYPEAP
  EELSRLGTPEANGQEENDLPPGTPDAFAQLLTCPYCDRGYKRLTSLKEHIKYRHEKNEEN
  FSCPLCSYTFAYRTQLERHMVTHKPGTDQHQMLTQGAGNRKFKCTECGKAFKYKHHLKEH
  LRIHSGEKPYECPNCKKRFSHSGSYSSHISSKKCIGLISVNGRMRNNIKTGSSPNSVSSS
  PTNSAITQLRNKLENGKPLSMSEQTGLLKIKTEPLDFNDYKVLMATHGFSGTSPFMNGGL
  GATSPLGVHPSAQSPMQHLGVGMEAPLLGFPTMNSNLSEVQKVLQIVDNTVSRQKMDCKA
  EEISKLKGYHMKDPCSQPEEQGVTSPNIPPVGLPVVSHNGATKSIIDYTLEKVNEAKACL
  QSLTTDSRRQISNIKKEKLRTLIDLVTDDKMIENHNISTPFSCQFCKESFPGPIPLHQHE
  RYLCKMNEEIKAVLQPHENIVPNKAGVFVDNKALLLSSVLSEKGMTSPINPYKDHMSVLK
  AYYAMNMEPNSDELLKISIAVGLPQEFVKEWFEQRKVYQYSNSRSPSLERSSKPLAPNSN
  PPTKDSLLPRSPVKPMDSITSPSIAELHNSVTNCDPPLRLTKPSHFTNIKPVEKLDHSRS
  NTPSPLNLSSTSSKNSHSSSYTPNSFSSEELQAEPLDLSLPKQMKEPKSIIATKNKTKAS
  SISLDHNSVSSSSENSDEPLNLTFIKKEFSNSNNLDNKSTNPVFSMNPFSAKPLYTALPP
  QSAFPPATFMPPVQTSIPGLRPYPGLDQMSFLPHMAYTYPTGAATFADMQQRRKYQRKQG
  FQGELLDGAQDYMSGLDDMTDSDSCLSRKKIKKTESGMYACDLCDKTFQKSSSLLRHKYE
  HTGKRPHQCQICKKAFKHKHHLIEHSRLHSGEKPYQCDKCGKRFSHSGSYSQHMNHRYSY
  CKREAEEREAAEREAREKGHLEPTELLMNRAYLQSITPQGYSDSEERESMPRDGESEKEH
  EKEGEDGYGKLGRQDGDEEFEEEEEESENKSMDTDPETIRDEEETGDHSMDDSSEDGKME
  TKSDHEEDNMEDGM

• Sequence length: 1214

Pathways

KEGG:

MicroRNAs in cancer

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
Abnormal brain morphology	Likely pathogenic	rs1060499770	RCV000454268	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Pathogenic	rs527679524	RCV001814563	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs2149872651, rs587784566, rs886041989	RCV005626491 RCV001260793 RCV001260810	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marfanoid habitus and intellectual disability	Likely pathogenic	rs1573708180, rs1573713430	RCV000850436 RCV000850458	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mowat-Wilson syndrome	Likely pathogenic; Pathogenic	rs1114167349, rs398124274, rs398124280, rs398124281, rs398124282, rs1703135134, rs1703257054, rs2149877941, rs2149872716, rs2149876500, rs2149877500, rs2149877962, rs2149877963, rs2149877994, rs1060503990, rs2149935159, rs2149872616, rs2149876411, rs527679524, rs2149935109, rs2149877416, rs1703347173, rs2149877432, rs2149877492, rs2149876873, rs2149877421, rs1451961075, rs2149876315, rs2149876829, rs2149872642, rs2149877380, rs2149876649, rs2149872664, rs2149877082, rs2149877154, rs2149891139, rs2149879206, rs2149877112, rs2149876398, rs2149879709, rs2149877279, rs2149876861, rs2149877017, rs2149876640, rs2149872634, rs2149872686, rs2149877032, rs753880265, rs587784566, rs587784565, rs587784571, rs587784570, rs587784568, rs2149935119, rs2549105730, rs1703232747, rs2549101895, rs2549107217, rs2549105623, rs2549118592, rs727504224, rs727504226, rs727503784, rs730881218, rs730881213, rs730881216, rs730881217, rs730881212, rs730881211, rs730881208, rs730881215, rs2549101933, rs2549106009, rs2549104771, rs786204816, rs786204804, rs786204810, rs786204821, rs786204818, rs786204803, rs786204811, rs786204809, rs786204808, rs786204819, rs786204820, rs1553961695, rs786204814, rs786204807, rs786204801, rs786204805, rs786204815, rs786204806, rs111724246, rs786204817, rs786204812, rs786204813, rs786204802, rs2549105695, rs2549110052, rs2549120592, rs794727924, rs137852980, rs137852981, rs587776603, rs587776604, rs587776605, rs587776606, rs587776607, rs587776608, rs137852982, rs587776609, rs587776611, rs137852983, rs2549106788, rs2549107849, rs797046121, rs797046120, rs797046119, rs797046118, rs797046117, rs797046122, rs1015026440, rs2549105837, rs2549101914, rs2549107870, rs2549107863, rs2549101967, rs863224942, rs2549101927, rs2549107218, rs2549106088, rs2549106245, rs2549106896, rs2549106910, rs2549109417, rs2549104779, rs2549106065, rs878855329, rs886041989, rs886041338, rs2549106440, rs2549107839, rs2549107192, rs2549104792, rs2549106126, rs2549106628, rs2549109951, rs2549105756, rs2549107895, rs2549109389, rs2549109346, rs2549106657, rs2549106078, rs2549120628, rs2549107852, rs2549110000, rs2549105809, rs2549106396, rs2549105628, rs2549105879, rs2549101903, rs2549106663, rs2549107031, rs2549106917, rs2549101973, rs2549120733, rs2549105946, rs1553960776, rs2549105793, rs2549120673, rs2149872632, rs397515449, rs2549101955, rs2549106196, rs2549105787, rs2549110013, rs2549101930, rs2549109930, rs2549157200, rs2549101898, rs2549107201, rs2549101925, rs1057518185, rs1060500653, rs1135401790, rs1135402759, rs1553960793, rs1553961610, rs1553961702, rs1553961585, rs1553961598, rs1553961510, rs1553962198, rs1553960778, rs1553960788, rs1553961343, rs1553961487, rs1553964147, rs1423851170, rs1553961332, rs1553961580, rs1553961747, rs1553964145, rs1553971826, rs1560605892, rs1560609721, rs1560609810, rs1560618505, rs1560607925, rs1560620837, rs1560606974, rs1560604977, rs1560606294, rs587784563, rs1553962069, rs1573717685, rs1573718630, rs1573722122, rs1573717173, rs1573721242, rs397515448, rs1573708153, rs1573713477, rs1573716158, rs1573743951, rs1573718595, rs1573721065, rs1573722407, rs756778602, rs1314954470, rs1703267358, rs1703133912, rs1703280349, rs1703290664, rs1703347063, rs1705170374, rs1703305546, rs1703277223, rs1703265228, rs1703280501, rs1703306516, rs1703278635, rs1703231612, rs1703742764, rs766022812, rs1703231315, rs760437173, rs1703269824	RCV001327426 RCV001387154 RCV000081669 RCV000850621 RCV000081673 RCV001330558 RCV001330556 RCV001378996 RCV001384364 RCV001383647 RCV001387623 RCV001390864 RCV001381562 RCV001384867 RCV001390191 RCV001383645 RCV001788551 RCV001647334 RCV003483832 RCV001775245 RCV001775281 RCV001775321 RCV001775329 RCV001775428 RCV001775435 RCV001785154 RCV001784043 RCV001784044 RCV001974867 RCV002019178 RCV001960619 RCV001939473 RCV001964900 RCV001953913 RCV001888263 RCV001930874 RCV001958191 RCV001932527 RCV001888462 RCV001960695 RCV001956239 RCV001949491 RCV002039561 RCV002052223 RCV002246822 RCV002246823 RCV002246824 RCV002250854 RCV000147998 RCV000147997 RCV000148007 RCV000148006 RCV000148003 RCV002256957 RCV003483885 RCV002283797 RCV002283849 RCV002286448 RCV002290264 RCV002291149 RCV000154154 RCV000154156 RCV000157060 RCV000159503 RCV000159496 RCV006257986 RCV000159502 RCV000159495 RCV000159494 RCV000159491 RCV000159498 RCV002465377 RCV002465387 RCV002470505 RCV000169716 RCV000169699 RCV000169709 RCV000169722 RCV000169719 RCV000169698 RCV000169710 RCV000169708 RCV000169707 RCV000169720 RCV000169721 RCV000169704 RCV000169714 RCV000169706 RCV000169696 RCV000169700 RCV000169715 RCV000169705 RCV000169702 RCV000169717 RCV000169712 RCV000169713 RCV000169697 RCV002664256 RCV002664257 RCV002510742 RCV003483562 RCV000005020 RCV000005021 RCV000005022 RCV000005023 RCV000005024 RCV000005025 RCV000005026 RCV000005027 RCV000005028 RCV000005029 RCV000005032 RCV000005034 RCV002816354 RCV002814372 RCV000194868 RCV000193459 RCV000192418 RCV000192455 RCV000195002 RCV000192869 RCV002862183 RCV002829541 RCV002861705 RCV002848452 RCV002933880 RCV002972620 RCV000198384 RCV000200598 RCV003033738 RCV003008070 RCV003006214 RCV003045613 RCV003035385 RCV003066127 RCV003040614 RCV003110186 RCV003149161 RCV003153231 RCV000234801 RCV001388366 RCV001800643 RCV003324613 RCV003330049 RCV003333333 RCV003484417 RCV003484247 RCV003484248 RCV003484249 RCV003484250 RCV003484251 RCV003484252 RCV003484253 RCV003484254 RCV003484255 RCV003484256 RCV003484257 RCV003484258 RCV003484259 RCV003502837 RCV003503640 RCV003504517 RCV003504518 RCV003504519 RCV003502288 RCV003502491 RCV003503058 RCV003503991 RCV003504023 RCV003503286 RCV003611807 RCV003612649 RCV003612570 RCV003612848 RCV003613093 RCV003613113 RCV003613318 RCV003611184 RCV003883340 RCV003985156 RCV003985240 RCV003986015 RCV003988911 RCV004557244 RCV004566591 RCV004585218 RCV004796169 RCV000477195 RCV000496116 RCV000497217 RCV000502244 RCV000501036 RCV000503149 RCV000521622 RCV000531302 RCV000550053 RCV000553947 RCV003611519 RCV000590869 RCV005091567 RCV000642253 RCV000642252 RCV000660359 RCV000660358 RCV000660357 RCV000660356 RCV000660354 RCV000677409 RCV000680143 RCV000680144 RCV000694157 RCV000687795 RCV000690111 RCV000690460 RCV000692086 RCV000693407 RCV000690459 RCV000721184 RCV000824675 RCV000805750 RCV000794838 RCV000818746 RCV000853293 RCV000853244 RCV000050218 RCV000050219 RCV000986818 RCV000986819 RCV000986820 RCV000986823 RCV000995918 RCV000995678 RCV000995679 RCV001050055 RCV001047171 RCV001045714 RCV001089543 RCV002267631 RCV001224370 RCV001218547 RCV001204282 RCV001206969 RCV001216344 RCV001232667 RCV001249622 RCV001249623 RCV001250798 RCV001251108 RCV001252640 RCV001252641 RCV001253519 RCV001255841 RCV001262509 RCV001262824 RCV001264807	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Pathogenic	rs2149876810	RCV002274390	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs903815010, rs1226638635, rs2549106878	RCV001374937 RCV001780024 RCV003389229	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Smith-Magenis Syndrome-like	Pathogenic	rs1114167349	RCV000491303	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ZEB2-related disorder	Pathogenic; Likely pathogenic	rs786204801, rs2549107043, rs2549106613, rs2549104792, rs2549106667	RCV003390885 RCV003402563 RCV003404309 RCV003397720 RCV003954340	★★★★★ 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
Aganglionic megacolon	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis multiplex congenita	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft lip/palate	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal akinesia deformation sequence 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung disease-intellectual disability syndrome, late infantile	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lennox-Gastaut syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOWAT-WILSON SYNDROME DUE TO A ZEB2 POINT MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOWAT-WILSON SYNDROME DUE TO MONOSOMY 2Q22	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER, PAPILLARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Accessory nipple	Accessory Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	25565005, 30679322		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	23381389		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25115923, 27733346, 30349307, 30712885		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	22103974		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	28887601		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	28421464		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	29251244		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	21617757		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	11595972, 12784289, 15065106, 16053902, 22103974, 27831545, 28421464, 28887601		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	11595972, 27831545	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	21374699		★☆☆☆☆ Found in Text Mining only
Anisometropia	Anisometropia	Pubtator	37266952	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23612862		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	22103974, 28421464, 28887601		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	Pubtator	36676725	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	36720950	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	16611372		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	30280445		★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	30280445	Associate	★☆☆☆☆ Found in Text Mining only
Bilateral arterial duct	Bilateral Arterial Duct	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19706487, 24306957, 26544536, 26646296, 28503069, 28992472, 30352837, 31253481, 31746333		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	33572092	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15742334, 16568083, 23474752, 25520137, 25762639, 25779673, 26028330, 27845906, 28063065, 28135249, 28247944, 28675122, 29104620, 29254230, 29545927, 29963231, 30361097, 30979827, 31257481		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	19839049		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15742334, 16314317, 16568083, 25053741, 25762639, 26823172, 28107418, 28247944, 29368542, 29666469, 30979827, 31257481, 33280520, 34231077, 34582659, 35986741, 37575267, 38078907	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	37088469	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	21645397	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15742334, 16273209, 17299729, 30739164		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	30760857	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	12175509	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	29060924	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15026811, 21645397, 22393452, 25008569, 25797260, 26156804, 27748842, 27861158, 31298368, 32965165, 34018840, 34496784, 37138218, 38538524	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37564197	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19706487, 24306957, 26544536, 26646296, 28503069, 28992472, 30352837, 31253481, 31746333		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	30957184		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28350117		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	28623900	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34211089	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17060462, 23658743, 31257481, 31599407, 32046742	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36969247	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19486012, 19536615, 24677166, 25052237, 25894377, 25954928, 26136338, 26824454, 30814239		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	19381684, 26515382		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	23143680		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	36676725	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	CTD_human_DG	29326173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
cervical cancer	Cervical Cancer	BEFREE	27933466, 29523224, 30119219, 31499118		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	27933466, 29523224, 30119219, 31499118		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	28423728	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	30462321		★☆☆☆☆ Found in Text Mining only
Cirrhosis Familial	Cirrhosis	Pubtator	28423728	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15252840, 23372686, 24213572, 28670373, 31405759		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19830559, 22042972, 24130169, 28670373, 29187907, 29516288, 30783098, 31364113		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23372686, 24914372, 29504907, 30646224, 31364113, 31698657, 32391554, 33084522, 34965191	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32277632	Stimulate	★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	17258401		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	21712996, 37735378, 38350246	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	11595972, 16053902, 18259761, 31321886		★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation	Congenital Central Hypoventilation	BEFREE	16443855		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	29932217		★☆☆☆☆ Found in Text Mining only
Congenital ectopic pupil	Congenital anomaly of eye	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	16053902		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	17478475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Congenital Heart Disease	BEFREE	12784289		★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	11891681		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	15384097		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23658743, 25427583, 28569782, 30569446, 31257481, 31599407		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	32919281	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	11592033, 18445050		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	11592033, 26993267	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	20682777, 31032350		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	15384097		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	33318568	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16053902, 17958891, 19764019, 19842203, 21343952, 26721324, 26809768, 27831545		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	28422173		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	20715109		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	33457409	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34970423	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	32802844	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	11592033, 26993267, 27831545, 33870748, 38350246	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26319231, 27831545, 28455101, 29258970		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	25954928, 30814239		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28861321, 31387451		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28861321, 31387451		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	21426561, 32194853, 32495874, 34551777, 34866524	Associate	★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	11595972	Associate	★☆☆☆☆ Found in Text Mining only
Familial Nonmedullary Thyroid Cancer	Thyroid cancer	CTD_human_DG	28030816		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	25417901, 29375381, 30479019		★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	25270520		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingival diseases	Pubtator	32471743	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25833697, 29476046, 30728039		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25833697, 29476046, 33572092, 36762036	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25833697, 29476046, 30728039		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19806322, 22761708, 26648487, 27470974, 30008863, 31686846		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	22761708, 33572092	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32857719	Inhibit	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	22892238		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	12175509, 25205790, 37735378	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	27683414		★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	24401652	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	11279515, 11448942, 11592033, 11595972, 11891681, 12149685, 12784289, 15384097, 16053902, 16443855, 16618617, 17958891, 19183406, 20428734, 20456320, 21712996, 24576558, 25988649, 26852091, 29600337		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung disease	Pubtator	11592033, 11595972, 12175509, 17932455, 19925665, 21712996, 37679133	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	LHGDN	11595972, 12149685, 19183406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	GENOMICS_ENGLAND_DG	21712996		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydronephrosis	Hydronephrosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	20206619		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	11595972	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	12784289, 16053902		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28370348		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11592033, 11595972, 11891681, 16053902, 18259761, 18445050, 23001561		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	11592033, 11595972, 24058414, 26933844, 38350246	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Interrupted inferior vena cava with azygous continuation	Interrupted inferior vena cava with azygous continuation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	28423728		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	29467869, 30854928, 30957184, 31564916		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	22685266	Associate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	22685266		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	20007546, 24072100, 25565005, 28069602		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26186352, 37313984	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26186352, 27756750, 31186703		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	17660978		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15026811, 16461895, 21645397, 24005989, 24768205, 25008569, 25797260, 25818166, 26022123, 26378039, 26503460, 27924058, 28123534, 28416756, 28437884, 28521482, 28680141, 29312800, 29535552, 30790340, 31298368		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20980099, 24626466, 29371906	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33627769	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28438897		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25989272, 31695021	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27748842	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	30679322		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	22892238		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	16996643		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16568083, 23474752, 25520137, 25762639, 25779673, 26028330, 27845906, 28063065, 28135249, 28247944, 28675122, 29104620, 29254230, 29545927, 29963231, 30361097, 30979827, 31257481		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	19839049		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	20715109		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28861321, 31387451		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	28416756		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	23184150		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	26156804, 30592286		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28350117		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19486012, 19536615, 24677166, 25052237, 25894377, 25954928, 26136338, 26824454		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	17043655, 20551052, 23612862, 26662405		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21747944, 23024790, 25296715, 27659015, 28133913, 31157262		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12414534, 22311119, 22350782, 23143680, 28416756, 28485807, 28662499, 29302045, 30464170, 31128021		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19706487, 24306957, 26544536, 26646296, 28503069, 28992472, 30352837, 31253481, 31746333		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15026811, 16996643, 19536615, 19706487, 20551052, 20668090, 21874049, 21890822, 22042972, 22227038, 24037528, 24130169, 24769353, 25798919, 26646296, 26654950, 28069602, 28119291, 28192397, 28421464, 28437884, 28618162, 28662499, 28783176, 28927031, 29416649, 29523224, 29963231, 30445998, 30464170, 30525209, 30773635, 30783098, 30790340, 30957184, 31793654		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	27933466, 29523224, 30119219, 31499118		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15252840, 23372686, 24213572, 28670373, 31405759		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	19839049		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16568083, 25762639		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16568083		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	19839049		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	19839049		★☆☆☆☆ Found in Text Mining only
MARDEN-WALKER SYNDROME	Marden-Walker Syndrome	BEFREE	16088920, 16688751, 17103451, 17203459, 18182442, 18445050, 22246645, 23001561, 23466526, 23523603, 24715670, 25899569, 26686679, 26721324, 26852091, 27831545, 28094084, 28455101, 29258970, 29300384, 31321886, 31376723		★☆☆☆☆ Found in Text Mining only
MARDEN-WALKER SYNDROME	Marden-Walker Syndrome	GENOMICS_ENGLAND_DG	21712996		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22000016, 24769727, 26503444, 29050198, 29516288		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	37475109	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	11592033, 11595972, 11891681, 16053902, 18259761, 18445050, 23001561		★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Dominant 3	Intellectual developmental disorder	Pubtator	11592033	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	21983934		★☆☆☆☆ Found in Text Mining only
Methylmalonic Aciduria and Homocystinuria CblF Type	Methylmalonic acidemia	Pubtator	35709987	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	11595972	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	12784289, 24715670		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	31321886		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	25123255		★☆☆☆☆ Found in Text Mining only
Motor Disorders	Motor Disorders	BEFREE	29326173		★☆☆☆☆ Found in Text Mining only
Motor Disorders	Motor Disorders	CTD_human_DG	29326173		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	11943600		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36849997	Associate	★☆☆☆☆ Found in Text Mining only
Mowat-Wilson syndrome	Mowat-Wilson Syndrome	UNIPROT_DG	11448942, 12451214, 15384097, 16688751		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mowat-Wilson syndrome	Mowat-Wilson Syndrome	CLINVAR_DG	11592033, 16053902, 17203459, 19006215, 2030158		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mowat-Wilson syndrome	Mowat-Wilson Syndrome	BEFREE	12451214, 15006694, 16053902, 16443855, 16532472, 16688751, 17203459, 17223398, 18182442, 18230842, 18259761, 18445050, 18812405, 19215041, 19842203, 20093881, 20206619, 21336163, 22246645, 22486326, 23001561, 23322667, 23466526, 23523603, 24029077, 24058414, 24243579, 24715670, 25028418, 26319231, 26686679, 26721324, 26852091, 27831545, 28094084, 28422173, 28455101, 29258970, 29300384, 29326173, 29922981, 30056076, 30266271, 30590588, 31321886, 31376723		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mowat-Wilson syndrome	Mowat-Wilson Syndrome	CTD_human_DG	15006694, 17103451, 17478475		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mowat-Wilson syndrome	Mowat-Wilson Syndrome	CLINGEN_DG	16053902, 16688751, 17478475, 22594450, 26319231, 9719364		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mowat-Wilson syndrome	Mowat-Wilson Syndrome	GENOMICS_ENGLAND_DG	16053902, 16688751, 18076118, 21712996		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mowat-Wilson syndrome due to a ZEB2 point mutation	Mowat-Wilson Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mowat-Wilson syndrome due to monosomy 2q22	Mowat-Wilson Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muckle-Wells Syndrome	Muckle-Wells Syndrome	BEFREE	16088920, 16688751, 17103451, 17203459, 18182442, 18445050, 22246645, 23001561, 23466526, 23523603, 24715670, 25899569, 26686679, 26721324, 26852091, 27831545, 28094084, 28455101, 29258970, 29300384, 31321886, 31376723		★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	GENOMICS_ENGLAND_DG	21712996		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	29387204		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	16053902, 17958891, 19764019, 19842203, 21343952, 26721324, 26809768, 27831545		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	27683414		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	23933737		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	28848321, 38243264	Associate	★☆☆☆☆ Found in Text Mining only
Myopia, Degenerative	Myopia	GWASCAT_DG	23933737		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	19931509, 25738652, 27589832, 30353102, 31257481		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	30353102, 31257481	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19846957, 20452118, 20515682, 21645397, 22042972, 22261801, 22436613, 23150175, 23381389, 23474752, 23612862, 24127332, 24306957, 24829139, 25008569, 25296715, 25427583, 25798919, 25818166, 25989272, 26136338, 26378039, 26503460, 26544536, 26662405, 26996663, 27589832, 27933466, 28119291, 28670373, 29104620, 29416649, 29467869, 29516288, 29952249, 30008863, 30209363, 30783098		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	28980068		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30590588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19846957, 20452118, 26818357, 29339211, 30349307, 30542503, 30780105, 31024010, 31134511, 31452774, 31799665, 31807001		★☆☆☆☆ Found in Text Mining only
Nonmedullary Thyroid Carcinoma	Nonmedullary thyroid carcinoma	CTD_human_DG	28030816		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25630869	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	36676725	Associate	★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	29893466		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	29893466	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	20515682, 24815002, 28744396, 30692230		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	30692230, 32633340	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	19536615, 24677166, 25894377		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	34211089	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	19486012, 25052237, 25954928, 26136338, 26824454		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19486012, 19854497, 24677166, 25894377, 26136338, 26824454, 27563817, 29952249, 32316405, 34211089, 35953860	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17043655, 20551052, 23612862, 26662405		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20551052, 25409617, 25989272, 30318866	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36420274	Stimulate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	CTD_human_DG	28030816		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelvic Inflammatory Disease	Pelvic inflammatory disease	Pubtator	33457409	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	24573695		★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	12784289, 16053902		★☆☆☆☆ Found in Text Mining only
Perimembranous ventricular septal defect	Ventricular septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	25630869	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	31070467	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	31070467		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	34211089	Associate	★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	23150175		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	30679322		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	28069602		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21747944, 23024790, 25296715, 27659015, 28133913, 31157262		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23024790, 28133913	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	26995143		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	23184150, 26461224		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23184150, 23658743, 25427583, 26461224		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	GWASDB_DG	23184150		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	GWASCAT_DG	23184150, 25826619, 28598434		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31164867		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	17258401		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	30472203		★☆☆☆☆ Found in Text Mining only
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	BEFREE	20125191		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	37597508	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	23974872, 26198764, 29483656, 31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASDB_DG	23974872		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	26654950		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	BEFREE	15006694, 16053902, 26319231		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	15384097, 23933737, 28848321		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	24769353, 29115924		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	35927660	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	28040410	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	10562276, 10909848, 11181573, 9323129		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16273209, 19381684, 25115923, 30950191		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	21426561, 28927031, 30824187		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26214683, 29150940	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30957184	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	31169310		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	21913013, 24424572, 24887090		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	21913013		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12414534, 22311119, 22350782, 23143680, 28416756, 28485807, 28662499, 29302045, 30464170, 30923258, 31128021		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	28485807	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12414534, 16314317, 24885194, 25913622, 25945841, 25975736, 28485807, 29138864, 31128021, 33124951, 35874675, 36580668	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	36676725	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subaortic stenosis	Subaortic Stenosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	12451214, 12746390		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25762639, 29666469, 30209363, 30611621, 30728458, 30825262		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25762639	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	19706487, 26152796, 26544536, 26646296, 30352837, 31746333	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	BEFREE	16053902		★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	37735378	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29523224	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	16611372		★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	28551696	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	16611372		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	36676725	Associate	★☆☆☆☆ Found in Text Mining only
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	BEFREE	20206619		★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	26721324		★☆☆☆☆ Found in Text Mining only