Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2146
Gene name Gene Name - the full gene name approved by the HGNC.	Enhancer of zeste 2 polycomb repressive complex 2 subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EZH2
Synonyms (NCBI Gene) Gene synonyms aliases	ENX-1, ENX1, EZH2b, KMT6, KMT6A, WVS, WVS2
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q36.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates

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SNP ID	Visualize variation	Clinical significance	Consequence
rs193921147	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs193921148	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs199645805	G>C	Conflicting-interpretations-of-pathogenicity	Intron variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs267601394	T>A,G	Likely-pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs267601395	A>G,T	Likely-pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs397515547	C>T	Pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs397515548	C>T	Pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs587783625	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs587783626	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs587783627	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs775407864	A>G	Pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs797044844	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs797045568	->A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs886039601	G>C	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1057519833	G>C	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1057519894	T>A,G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1060503430	C>A	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1064795225	A>G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1064796617	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1131692184	G>C,T	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1554481113	A>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs1554481435	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs1554498830	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554499814	C>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1563181659	->TTC	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe insertion, genic downstream transcript variant
rs1563205364	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant, stop gained
rs1584844048	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1584844589	->TCTGAAACAACA	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, genic downstream transcript variant, splice acceptor variant
rs1584862620	A>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1584862929	T>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1584875099	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant

Show/Hide all(268)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay, Western blot	18713946
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay, Western blot	18713946
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay	19625769
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay	19043531
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay	18713946
MIRT000381	hsa-miR-101-3p	Review	20026422
MIRT000381	hsa-miR-101-3p	qRT-PCR	20712078
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, Western blot	19258506
MIRT003809	hsa-miR-199a-5p	Luciferase reporter assay, Northern blot	19818710
MIRT003809	hsa-miR-199a-5p	Luciferase reporter assay, Northern blot	19818710
MIRT000148	hsa-miR-214-3p	Luciferase reporter assay, Northern blot	19818710
MIRT000148	hsa-miR-214-3p	Luciferase reporter assay, Northern blot	19818710
MIRT000148	hsa-miR-214-3p	Luciferase reporter assay, Northern blot	19818710
MIRT000148	hsa-miR-214-3p	Luciferase reporter assay, Northern blot	19818710
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay	14697198
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	19008416
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	19008416
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	19008416
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	19008416
MIRT004010	hsa-miR-217	Luciferase reporter assay, qRT-PCR, Western blot	19008416
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	20478051
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	20478051
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	20478051
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	20478051
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20478051
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20478051
MIRT001771	hsa-miR-26a-5p	Immunohistochemistry, qRT-PCR, Western blot	21199804
MIRT005721	hsa-miR-98-5p	Northern blot	19818710
MIRT000381	hsa-miR-101-3p	Northern blot	19818710
MIRT001771	hsa-miR-26a-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	20952513
MIRT001771	hsa-miR-26a-5p	Immunoblot, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR	21368858
MIRT000381	hsa-miR-101-3p	Immunoblot, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR	21368858
MIRT005721	hsa-miR-98-5p	Immunoblot, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR	21368858
MIRT000148	hsa-miR-214-3p	Luciferase reporter assay, qRT-PCR, Western blot	21828058
MIRT000148	hsa-miR-214-3p	Luciferase reporter assay, qRT-PCR, Western blot	21828058
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21829663
MIRT001771	hsa-miR-26a-5p	Immunoblot, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR	21368858
MIRT000381	hsa-miR-101-3p	Immunoblot, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR	21368858
MIRT005721	hsa-miR-98-5p	Immunoblot, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR	21368858
MIRT000148	hsa-miR-214-3p	Luciferase reporter assay, qRT-PCR, Western blot	21828058
MIRT000148	hsa-miR-214-3p	Luciferase reporter assay, qRT-PCR, Western blot	21828058
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21829663
MIRT006479	hsa-miR-124-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	21672940
MIRT001771	hsa-miR-26a-5p	Immunoblot, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR	21368858
MIRT000381	hsa-miR-101-3p	Immunoblot, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR	21368858
MIRT005721	hsa-miR-98-5p	Immunoblot, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR	21368858
MIRT000148	hsa-miR-214-3p	Luciferase reporter assay, qRT-PCR, Western blot	21828058
MIRT000148	hsa-miR-214-3p	Luciferase reporter assay, qRT-PCR, Western blot	21828058
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21829663
MIRT006479	hsa-miR-124-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	21672940
MIRT006919	hsa-miR-25-3p	Luciferase reporter assay, qRT-PCR, Western blot	22399519
MIRT006920	hsa-miR-30d-5p	Luciferase reporter assay, qRT-PCR, Western blot	22399519
MIRT007300	hsa-miR-138-5p	Luciferase reporter assay, qRT-PCR, Western blot	23343715
MIRT007300	hsa-miR-138-5p	Luciferase reporter assay, qRT-PCR, Western blot	23343715
MIRT016450	hsa-miR-193b-3p	Microarray	20304954
MIRT007300	hsa-miR-138-5p	Reporter assay;Western blot;qRT-PCR;Other	21770894
MIRT006479	hsa-miR-124-3p	Reporter assay;qRT-PCR	21672940
MIRT006479	hsa-miR-124-3p	Proteomics	18668037
MIRT000381	hsa-miR-101-3p	Reporter assay	14697198
MIRT001771	hsa-miR-26a-5p	Reporter assay	18281287
MIRT052566	hsa-let-7a-5p	CLASH	23622248
MIRT048778	hsa-miR-93-5p	CLASH	23622248
MIRT044834	hsa-miR-320a	CLASH	23622248
MIRT044834	hsa-miR-320a	CLASH	23622248
MIRT041927	hsa-miR-484	CLASH	23622248
MIRT040605	hsa-miR-92b-3p	CLASH	23622248
MIRT040605	hsa-miR-92b-3p	CLASH	23622248
MIRT007300	hsa-miR-138-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	23707559
MIRT001771	hsa-miR-26a-5p	Immunohistochemistry, qRT-PCR, Western blot	23599767
MIRT006479	hsa-miR-124-3p	MKN-28	24658854
MIRT000148	hsa-miR-214-3p	Luciferase reporter assay, qRT-PCR, Western blot	23727574
MIRT000381	hsa-miR-101-3p	Flow, Immunohistochemistry, Microarray, qRT-PCR, Western blot	22450781
MIRT006479	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Quantitative proteomic approach	24658854
MIRT006479	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Quantitative proteomic approach	24658854
MIRT053781	hsa-miR-185-5p	Flow, Immunoprecipitaion, qRT-PCR, Western blot	23846337
MIRT000381	hsa-miR-101-3p	qRT-PCR, Western blot	21932133
MIRT000148	hsa-miR-214-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	22962603
MIRT052566	hsa-let-7a-5p	Luciferase reporter assay, qRT-PCR, Western blot	22972404
MIRT000381	hsa-miR-101-3p	Microarray, QRTPCR, Western blot	23557329
MIRT054265	hsa-miR-200a-3p	ChIP-seq, qRT-PCR, Western blot	25595591
MIRT054265	hsa-miR-200a-3p	ChIP-seq, qRT-PCR, Western blot	25595591
MIRT054267	hsa-miR-200b-3p	ChIP-seq, qRT-PCR, Western blot	25595591
MIRT054269	hsa-miR-429	ChIP-seq, qRT-PCR, Western blot	25595591
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR	24211736
MIRT054718	hsa-miR-26b-5p	Luciferase reporter assay, Microarray, QRTPCR, Western blotting	24815696
MIRT054718	hsa-miR-26b-5p	Luciferase reporter assay, Microarray, QRTPCR, Western blotting	24815696
MIRT006479	hsa-miR-124-3p	Northern blot, qRT-PCR, Microarray, Immunofluorescence staining, Immunoblotting	24878960
0	hsa-miR-206	Luciferase reporter assay, qRT-PCR, Western blot	24452597
MIRT007300	hsa-miR-138-5p	ELISA, Immunoblot, Luciferase reporter assay	25339353
MIRT006479	hsa-miR-124-3p	Luciferase reporter assay, Western blot	23404119
MIRT437389	hsa-miR-708-5p	Flow, qRT-PCR, Western blot	23754151
MIRT437435	hsa-let-7e-5p	qRT-PCR, Western blot	24100610
MIRT437437	hsa-miR-144-3p	ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot	23815091
MIRT437437	hsa-miR-144-3p	ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot	23815091
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	23962556
MIRT000148	hsa-miR-214-3p	Luciferase reporter assay, Western blot, qRT-PCR	25085702
MIRT000148	hsa-miR-214-3p	Luciferase reporter assay, Western blot, qRT-PCR	25085702
MIRT004010	hsa-miR-217	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25869101
MIRT004010	hsa-miR-217	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25869101
MIRT004010	hsa-miR-217	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25869101
MIRT004010	hsa-miR-217	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25869101
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	23962556
MIRT000148	hsa-miR-214-3p	Luciferase reporter assay, Western blot, qRT-PCR	25085702
MIRT000148	hsa-miR-214-3p	Luciferase reporter assay, Western blot, qRT-PCR	25085702
MIRT004010	hsa-miR-217	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25869101
MIRT004010	hsa-miR-217	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25869101
MIRT004010	hsa-miR-217	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25869101
MIRT004010	hsa-miR-217	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25869101
MIRT643645	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT643644	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT643643	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT643642	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT643641	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT643640	hsa-miR-3150b-3p	HITS-CLIP	23824327
MIRT643639	hsa-miR-4784	HITS-CLIP	23824327
MIRT643638	hsa-miR-1260a	HITS-CLIP	23824327
MIRT643637	hsa-miR-1260b	HITS-CLIP	23824327
MIRT643636	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT439162	hsa-let-7c-5p	3'LIFE	25074381
MIRT439162	hsa-let-7c-5p	3'LIFE	25074381
MIRT000381	hsa-miR-101-3p	qRT-PCR	25614281
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28214878
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28214878
MIRT734426	hsa-miR-340-3p	Luciferase reporter assay, qRT-PCR, Western blot	26656176
MIRT734426	hsa-miR-340-3p	Luciferase reporter assay, qRT-PCR, Western blot	26656176
MIRT732466	hsa-miR-137	LC-MS/MS, Luciferase reporter assay, qRT-PCR, Western blot	25505154
MIRT732466	hsa-miR-137	LC-MS/MS, Luciferase reporter assay, qRT-PCR, Western blot	25505154
MIRT000381	hsa-miR-101-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27620004
MIRT000381	hsa-miR-101-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27620004
MIRT000381	hsa-miR-101-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27620004
MIRT000381	hsa-miR-101-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27620004
MIRT001771	hsa-miR-26a-5p	qRT-PCR, Western blot	25611389
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	27966775
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	27966775
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	27966775
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	27966775
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	27966775
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	27966775
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	27966775
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	27966775
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	27966775
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	27966775
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	27966775
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	27966775
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	27966775
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	27966775
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26733151
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26733151
MIRT001771	hsa-miR-26a-5p	Chromatin immunoprecipitation, Immunohistochemistry, qRT-PCR	26746204
MIRT004010	hsa-miR-217	Microarray, qRT-PCR, Western blot	28062277
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26781064
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay, qRT-PCR, Western blot, ChIP	26781064
MIRT007300	hsa-miR-138-5p	qRT-PCR, Western blot	27019355
MIRT007300	hsa-miR-138-5p	qRT-PCR, Western blot	27019355
MIRT007300	hsa-miR-138-5p	qRT-PCR, Western blot	27019355
MIRT007300	hsa-miR-138-5p	qRT-PCR, Western blot	27019355
MIRT007300	hsa-miR-138-5p	qRT-PCR, Western blot	27019355
MIRT007300	hsa-miR-138-5p	qRT-PCR, Western blot	27019355
MIRT007300	hsa-miR-138-5p	qRT-PCR, Western blot	27019355
MIRT007300	hsa-miR-138-5p	qRT-PCR, Western blot	27019355
MIRT007300	hsa-miR-138-5p	qRT-PCR, Western blot	27019355
MIRT007300	hsa-miR-138-5p	qRT-PCR, Western blot	27019355
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay	26587974
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay	26587974
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay	26587974
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay	26587974
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay	26587974
MIRT001771	hsa-miR-26a-5p	Luciferase reporter assay	26587974
MIRT005721	hsa-miR-98-5p	Luciferase reporter assay, qRT-PCR, Western blot	27890434
MIRT005721	hsa-miR-98-5p	Luciferase reporter assay, qRT-PCR, Western blot	27890434
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	26718325
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	26718325
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	26718325
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	26718325
MIRT732466	hsa-miR-137	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25939439
MIRT007300	hsa-miR-138-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	27266699
MIRT732466	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blotting	33721449
MIRT437437	hsa-miR-144-3p	RNA-seq	33804111
MIRT732967	hsa-miR-506-3p	Luciferase reporter assay, qRT-PCR, Western blotting	34288823
MIRT006479	hsa-miR-124-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blotting	34007334
MIRT734426	hsa-miR-340-5p	Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR, Western blotting	33589600
MIRT734433	hsa-miR-145-5p	Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR, Western blotting	33589600
MIRT734434	hsa-miR-143-3p	Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR, Western blotting	33589600
MIRT437437	hsa-miR-144-3p	Immunoprecipitaion (IP), Microarray, qRT-PCR	33591945
MIRT735391	hsa-miR-562	Luciferase reporter assay, Western blotting, qRT-PCR	32002028
MIRT437437	hsa-miR-144-3p	Luciferase reporter assay, qRT-PCR	33233721
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, Western blotting, qRT-PCR	32047553
MIRT737164	hsa-miR-3613-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), Immunofluorescence, qRT-PCR	33330073
MIRT643645	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT643644	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT643643	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT643642	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT643641	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT643640	hsa-miR-3150b-3p	HITS-CLIP	23824327
MIRT643639	hsa-miR-4784	HITS-CLIP	23824327
MIRT643638	hsa-miR-1260a	HITS-CLIP	23824327
MIRT643637	hsa-miR-1260b	HITS-CLIP	23824327
MIRT643636	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT007300	hsa-miR-138-5p	Luciferase reporter assay, Western blotting, qRT-PCR	35505294
MIRT755453	hsa-miR-150-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Flow cytometry	34811354
MIRT755460	hsa-miR-30b-5p	Luciferase reporter assay, Western blotting, qRT-PCR	37698037
MIRT000381	hsa-miR-101-3p	Luciferase reporter assay, Western blotting, qRT-PCR	34859108
MIRT007300	hsa-miR-138-5p	Luciferase reporter assay, Western blotting, RNA-seq, ChIP-seq, Flow cytometry	36071871
MIRT973961	hsa-miR-1207-3p	CLIP-seq
MIRT973962	hsa-miR-1253	CLIP-seq
MIRT973963	hsa-miR-1297	CLIP-seq
MIRT973964	hsa-miR-1301	CLIP-seq
MIRT973965	hsa-miR-138	CLIP-seq
MIRT973966	hsa-miR-26a	CLIP-seq
MIRT973967	hsa-miR-26b	CLIP-seq
MIRT973968	hsa-miR-4299	CLIP-seq
MIRT973969	hsa-miR-4420	CLIP-seq
MIRT973970	hsa-miR-4465	CLIP-seq
MIRT973971	hsa-miR-4660	CLIP-seq
MIRT973972	hsa-miR-4710	CLIP-seq
MIRT973973	hsa-miR-4792	CLIP-seq
MIRT973974	hsa-miR-5047	CLIP-seq
MIRT973975	hsa-miR-518a-5p	CLIP-seq
MIRT973976	hsa-miR-527	CLIP-seq
MIRT973977	hsa-miR-630	CLIP-seq
MIRT973975	hsa-miR-518a-5p	CLIP-seq
MIRT973976	hsa-miR-527	CLIP-seq
MIRT1988541	hsa-miR-101	CLIP-seq
MIRT1988542	hsa-miR-1200	CLIP-seq
MIRT973961	hsa-miR-1207-3p	CLIP-seq
MIRT1988543	hsa-miR-124	CLIP-seq
MIRT973962	hsa-miR-1253	CLIP-seq
MIRT1988544	hsa-miR-127-5p	CLIP-seq
MIRT973964	hsa-miR-1301	CLIP-seq
MIRT973965	hsa-miR-138	CLIP-seq
MIRT1988545	hsa-miR-3140-5p	CLIP-seq
MIRT1988546	hsa-miR-3714	CLIP-seq
MIRT1988547	hsa-miR-3910	CLIP-seq
MIRT1988548	hsa-miR-3942-3p	CLIP-seq
MIRT1988549	hsa-miR-4257	CLIP-seq
MIRT973968	hsa-miR-4299	CLIP-seq
MIRT973969	hsa-miR-4420	CLIP-seq
MIRT973971	hsa-miR-4660	CLIP-seq
MIRT973972	hsa-miR-4710	CLIP-seq
MIRT973973	hsa-miR-4792	CLIP-seq
MIRT973974	hsa-miR-5047	CLIP-seq
MIRT1988550	hsa-miR-506	CLIP-seq
MIRT1988541	hsa-miR-101	CLIP-seq
MIRT1988542	hsa-miR-1200	CLIP-seq
MIRT973961	hsa-miR-1207-3p	CLIP-seq
MIRT1988543	hsa-miR-124	CLIP-seq
MIRT973962	hsa-miR-1253	CLIP-seq
MIRT1988544	hsa-miR-127-5p	CLIP-seq
MIRT973964	hsa-miR-1301	CLIP-seq
MIRT973965	hsa-miR-138	CLIP-seq
MIRT2222986	hsa-miR-144	CLIP-seq
MIRT1988545	hsa-miR-3140-5p	CLIP-seq
MIRT1988546	hsa-miR-3714	CLIP-seq
MIRT1988547	hsa-miR-3910	CLIP-seq
MIRT973968	hsa-miR-4299	CLIP-seq
MIRT973969	hsa-miR-4420	CLIP-seq
MIRT2222987	hsa-miR-450b-5p	CLIP-seq
MIRT973971	hsa-miR-4660	CLIP-seq
MIRT973972	hsa-miR-4710	CLIP-seq
MIRT973973	hsa-miR-4792	CLIP-seq
MIRT973974	hsa-miR-5047	CLIP-seq
MIRT1988550	hsa-miR-506	CLIP-seq
MIRT973975	hsa-miR-518a-5p	CLIP-seq
MIRT973976	hsa-miR-527	CLIP-seq
MIRT2222988	hsa-miR-582-5p	CLIP-seq
MIRT2222989	hsa-miR-600	CLIP-seq
MIRT2222990	hsa-miR-607	CLIP-seq
MIRT973969	hsa-miR-4420	CLIP-seq

Transcription factors

Show/Hide all(8)

Transcription factor	Regulation	Reference
CREBBP	Unknown	25088689
ELK1	Activation	22222375
EP300	Unknown	25088689
FOSL1	Unknown	23116973
JUN	Unknown	23116973
SIRT1	Repression	21703114
TP53	Activation	15208672
TP53	Repression	15208672;21165554

Show/Hide all(115)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	20154697
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000781	Component	Chromosome, telomeric region	IGI	9214638
GO:0000785	Component	Chromatin	IDA	19734898
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000979	Function	RNA polymerase II core promoter sequence-specific DNA binding	IEA
GO:0001222	Function	Transcription corepressor binding	IPI	29628311
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IDA	20154697
GO:0003682	Function	Chromatin binding	IEA
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	ISS
GO:0003723	Function	RNA binding	EXP	35682829
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	11571280, 16179254, 16357870, 17560333, 19734898, 20075857, 20543829, 22009739, 22094255, 22439931, 22897849, 23142980, 23238014, 23455924, 23684459, 24074865, 24183680, 24474760, 24981860, 25416956, 25417162, 26496610, 27705803, 27728805, 27728808, 28229514, 29628311, 29909548, 300
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19144645
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005677	Component	Chromatin silencing complex	IEA
GO:0005694	Component	Chromosome	IDA	19734898
GO:0005721	Component	Pericentric heterochromatin	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006325	Process	Chromatin organization	TAS
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	18713946
GO:0009913	Process	Epidermal cell differentiation	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IDA	20154697
GO:0014013	Process	Regulation of gliogenesis	IEA
GO:0014834	Process	Skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration	IEA
GO:0014898	Process	Cardiac muscle hypertrophy in response to stress	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IDA	19144645, 25620564
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0021695	Process	Cerebellar cortex development	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0030097	Process	Hemopoiesis	IEA
GO:0030183	Process	B cell differentiation	IEA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030335	Process	Positive regulation of cell migration	IDA	35609316
GO:0031048	Process	Regulatory ncRNA-mediated heterochromatin formation	IGI	23435381
GO:0031490	Function	Chromatin DNA binding	IDA	19734898
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031491	Function	Nucleosome binding	IDA	33479123
GO:0031491	Function	Nucleosome binding	IEA
GO:0031507	Process	Heterochromatin formation	IBA
GO:0031509	Process	Subtelomeric heterochromatin formation	IGI	9214638
GO:0032259	Process	Methylation	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0034244	Process	Negative regulation of transcription elongation by RNA polymerase II	IEA
GO:0035098	Component	ESC/E(Z) complex	IBA
GO:0035098	Component	ESC/E(Z) complex	IDA	15385962, 20075857, 23104054, 23273982, 24474760
GO:0035098	Component	ESC/E(Z) complex	IEA
GO:0035984	Process	Cellular response to trichostatin A	IEA
GO:0036211	Process	Protein modification process	IEA
GO:0036333	Process	Hepatocyte homeostasis	IEA
GO:0042054	Function	Histone methyltransferase activity	IEA
GO:0042054	Function	Histone methyltransferase activity	IMP	26694085
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042393	Function	Histone binding	IDA	33479123
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	IMP	16717091
GO:0043021	Function	Ribonucleoprotein complex binding	IEA
GO:0043406	Process	Positive regulation of MAP kinase activity	IDA	20154697
GO:0043547	Process	Positive regulation of GTPase activity	IDA	20154697
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045120	Component	Pronucleus	IEA
GO:0045202	Component	Synapse	IEA
GO:0045605	Process	Negative regulation of epidermal cell differentiation	IEA
GO:0045617	Process	Negative regulation of keratinocyte differentiation	IEA
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IDA	20154697
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IMP	24623306
GO:0045814	Process	Negative regulation of gene expression, epigenetic	TAS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	16179254
GO:0046976	Function	Histone H3K27 methyltransferase activity	IBA
GO:0046976	Function	Histone H3K27 methyltransferase activity	IDA	15385962, 22323599, 30923826
GO:0046976	Function	Histone H3K27 methyltransferase activity	IEA
GO:0046976	Function	Histone H3K27 methyltransferase activity	IMP	28229514, 30026490
GO:0046976	Function	Histone H3K27 methyltransferase activity	TAS	24474760
GO:0048387	Process	Negative regulation of retinoic acid receptor signaling pathway	IMP	16179254
GO:0048511	Process	Rhythmic process	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0050767	Process	Regulation of neurogenesis	IEA
GO:0051154	Process	Negative regulation of striated muscle cell differentiation	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IEA
GO:0070301	Process	Cellular response to hydrogen peroxide	IEA
GO:0070314	Process	G1 to G0 transition	IEA
GO:0070878	Function	Primary miRNA binding	IEA
GO:0071168	Process	Protein localization to chromatin	IEA
GO:0071902	Process	Positive regulation of protein serine/threonine kinase activity	IDA	20154697
GO:0090183	Process	Regulation of kidney development	IEA
GO:0097421	Process	Liver regeneration	IEA
GO:0106222	Function	LncRNA binding	IEA
GO:0140718	Process	Facultative heterochromatin formation	IEA
GO:0140938	Function	Histone H3 methyltransferase activity	TAS
GO:0140951	Function	Histone H3K27 trimethyltransferase activity	IEA
GO:1900006	Process	Positive regulation of dendrite development	IEA
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IEA
GO:1902808	Process	Positive regulation of cell cycle G1/S phase transition	IMP	18713946
GO:1904772	Process	Response to tetrachloromethane	IEA
GO:1990841	Function	Promoter-specific chromatin binding	IDA	24623306
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IEA
GO:2000737	Process	Negative regulation of stem cell differentiation	IEA

MIM	HGNC	e!Ensembl
601573	3527	ENSG00000106462

Protein

UniProt ID

Q15910

Protein name

Histone-lysine N-methyltransferase EZH2 (EC 2.1.1.356) (ENX-1) (Enhancer of zeste homolog 2) (Lysine N-methyltransferase 6)

Protein function

Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trime

PDB

4MI0 , 4MI5 , 5GSA , 5H14 , 5H15 , 5H17 , 5H19 , 5H24 , 5H25 , 5HYN , 5IJ7 , 5IJ8 , 5LS6 , 5U5T , 5U62 , 5WG6 , 5WUK , 6C23 , 6C24 , 6LO2 , 6P5L , 6U4Y , 6WKR , 7AT8 , 7QJG , 7QJU , 7QK4 , 8EQV , 8FYH , 8T9G , 8TAS , 8TB9 , 8VMI , 8VML , 8VNV , 8VNZ , 9C8U , 9DCH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11616	EZH2_WD-Binding	39 → 68	WD repeat binding protein EZH2	Family
PF18118	PRC2_HTH_1	158 → 249	Polycomb repressive complex 2 tri-helical domain	Domain
PF18264	preSET_CXC	559 → 590	CXC domain	Domain
PF00856	SET	623 → 727	SET domain	Family

Tissue specificity

TISSUE SPECIFICITY: In the ovary, expressed in primordial follicles and oocytes and also in external follicle cells (at protein level) (PubMed:31451685). Expressed in many tissues (PubMed:14532106). Overexpressed in numerous tumor types including carcinom

Sequence

MGQTGKKSEKGPVCWRKRVKSEYMRLRQLKRFRRADEVKSMFSSNRQKILERTEILNQEW
KQRRIQPVHILTSVSSLRGTRECSVTSDLDFPTQVIPLKTLNAVASVPIMYSWSPLQQNF
MVEDETVLHNIPYMGDEVLDQDGTFIEELIKNYDGKVHGDRECGFINDEIFVELVNALGQ
YNDDDDDDDGDDPEEREEKQKDLEDHRDDKESRPPRKFPSDKIFEAISSMFPDKGTAEEL
KEKYKELTEQQLPGALPPECTPNIDGPNAKSVQREQSLHSFHTLFCRRCFKYDCFLHPFH
ATPNTYKRKNTETALDNKPCGPQCYQHLEGAKEFAAALTAERIKTPPKRPGGRRRGRLPN
NSSRPSTPTINVLESKDTDSDREAGTETGGENNDKEEEEKKDETSSSSEANSRCQTPIKM
KPNIEPPENVEWSGAEASMFRVLIGTYYDNFCAIARLIGTKTCRQVYEFRVKESSIIAPA
PAEDVDTPPRKKKRKHRLWAAHCRKIQLKKDGSSNHVYNYQPCDHPRQPCDSSCPCVIAQ
NFCEKFCQCSSECQNRFPGCRCKAQCNTKQCPCYLAVRECDPDLCLTCGAADHWDSKNVS
CKNCSIQRGSKKHLLLAPSDVAGWGIFIKDPVQKNEFISEYCGEIISQDEADRRGKVYDK
YMCSFLFNLNNDFVVDATRKGNKIRFANHSVNPNCYAKVMMVNGDHRIGIFAKRAIQTGE
ELFFDYRYSQADALKYVGIEREMEIP

Sequence length

746

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways Polycomb repressive complex MicroRNAs in cancer		PRC2 methylates histones and DNA Oxidative Stress Induced Senescence PKMTs methylate histone lysines Regulation of PTEN gene transcription Transcriptional Regulation by E2F6 HCMV Early Events

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Weaver Syndrome	weaver syndrome	rs797045568, rs1060503430, rs1131692184, rs1563181659, rs193921146, rs1584862620, rs193921147, rs1584862929, rs193921148, rs1584875099, rs397515548, rs1584844589, rs587783627, rs587783626, rs587783625	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast Cancer	Breast cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	35411083	CBGDA
Esophageal Carcinoma	Esophageal squamous cell carcinoma	We performed genome-wide gain-of-function screening with a CRISPR-SAM library and identified enhancer of zeste homolog 2 (EZH2) rendering ESCC cells resistant to the PI3K? inhibitor CYH33.	35604910	CBGDA
Gout	Gout	N/A	N/A	GWAS
Lung adenocarcinoma	Familial squamous cell lung carcinoma	N/A	N/A	GWAS
neoplasm	Neoplasm	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (356)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Achalasia Addisonianism Alacrimia syndrome	Associate	27764181
Acquired Immunodeficiency Syndrome	Stimulate	36195655
Acute Lung Injury	Associate	36552722
Adenocarcinoma	Associate	24097870, 28539837, 30458017, 35245884, 36037134
Adenocarcinoma	Inhibit	28539837
Adenocarcinoma Follicular	Associate	32093341
Adenocarcinoma in Situ	Associate	30903272
Adenocarcinoma of Lung	Associate	24097870, 24859971, 25800736, 28214878, 28539837, 31042721, 31180543, 31773700, 35245884, 36050791, 36629984, 36670102, 37069494, 37269912, 37992808
Adenoma	Associate	34967593
Adenoma Pleomorphic	Associate	38477804
Adrenal hyperplasia 2	Associate	21697275
Adrenocortical Carcinoma	Associate	25657202, 37129912
Amyotrophic Lateral Sclerosis	Associate	31048495
Anemia Aplastic	Associate	33166403
Anemia Hemolytic	Associate	36129843
Anemia Sickle Cell	Associate	37973947
Aneuploidy	Associate	21406404, 24344012
Anophthalmia with pulmonary hypoplasia	Associate	35173526
Aortic Aneurysm Abdominal	Associate	31028191
Arthritis Rheumatoid	Associate	21515604
Astrocytoma	Associate	24260522, 27136105
Autism Spectrum Disorder	Associate	28720872
Autoimmune Diseases	Associate	35795677
Basal cell carcinoma infundibulocystic	Stimulate	19860841
Blast Crisis	Associate	37399248
Brain Neoplasms	Associate	20920292, 37147437
Breast Neoplasms	Associate	14965441, 15856046, 16331887, 16766534, 17502350, 18176935, 19099573, 19340297, 19886718, 19901851, 19934278, 19969553, 20864510, 21399615, 21406404 View all (53 more)
Breast Neoplasms	Stimulate	23190500, 24079712, 28253895, 38254989
Bronchial Diseases	Stimulate	24097870
Calcinosis Cutis	Stimulate	17640228, 31104332
Calcinosis Cutis	Associate	20920340, 23133536, 28241804, 36670102
Camptodactyly 1	Associate	24214728
Carcinogenesis	Associate	15720799, 17024127, 17502350, 20479932, 21399615, 21697275, 21840484, 22740705, 23011159, 23592277, 23735840, 23857401, 23949225, 24040354, 24097870 View all (27 more)
Carcinoma Adenoid Cystic	Associate	38477804
Carcinoma Basal Cell	Associate	24691023, 30215205
Carcinoma Ductal Breast	Associate	27050973
Carcinoma Hepatocellular	Associate	15856046, 18591938, 21330577, 22809481, 23421437, 24040354, 24079712, 24966962, 25226601, 26109807, 26191190, 26404566, 26517514, 26715809, 27644248 View all (26 more)
Carcinoma Hepatocellular	Stimulate	36071871
Carcinoma Hepatocellular	Inhibit	37335078
Carcinoma in Situ	Stimulate	19564843
Carcinoma in Situ	Associate	26415052
Carcinoma Intraductal Noninfiltrating	Associate	14965441, 23759596
Carcinoma Intraductal Noninfiltrating	Stimulate	27113214
Carcinoma Lobular	Associate	24266940
Carcinoma Merkel Cell	Associate	26743471, 28359267, 34667274, 34706521, 37037414, 37244352
Carcinoma Non Small Cell Lung	Associate	20564407, 21270667, 21837672, 23300840, 23857401, 24097870, 24745014, 25994569, 27195672, 27577075, 28131418, 31401873, 31456359, 31646568, 33296708 View all (4 more)
Carcinoma Non Small Cell Lung	Stimulate	21539681, 22925699
Carcinoma Non Small Cell Lung	Inhibit	24928441
Carcinoma Ovarian Epithelial	Associate	22144423, 24335192, 32004442
Carcinoma Pancreatic Ductal	Stimulate	22622284
Carcinoma Pancreatic Ductal	Associate	31929143, 35173526
Carcinoma Renal Cell	Associate	20920340, 21610323, 22609199, 23057811, 24312307, 25600645, 28466784, 28976794, 29286132, 32303902, 33456353, 34307682, 35513791, 36808829
Carcinoma Renal Cell	Stimulate	25877750, 30510965
Carcinoma Small Cell	Associate	23857401
Carcinoma Squamous Cell	Associate	21532618, 25275664, 27323178, 29630085, 33247371, 34195851, 35864175
Carcinoma Transitional Cell	Associate	17541304
Carcinoma Verrucous	Associate	32720035
Carcinosarcoma	Associate	38146588
Cardiovascular Diseases	Associate	34087994
CATSHL syndrome	Associate	24214728
Cell Transformation Neoplastic	Associate	23707559, 25435365, 27793210
Cholangiocarcinoma	Associate	18591938, 22809481, 29759640, 32505533
Cholecystolithiasis	Stimulate	19564843
Chondrosarcoma	Associate	24852755
Chromosomal Instability	Associate	32066746
Chromosome 1q21.1 Deletion Syndrome 1.35 Mb	Associate	23184418
Chromosome 8 trisomy	Associate	31886200
Chromosome Aberrations	Associate	24079712
Chromosome Aberrations	Inhibit	32004442
Clear cell metastatic renal cell carcinoma	Associate	23133536
Cleft Palate	Associate	37399248
Cognition Disorders	Associate	29802153
Colonic Neoplasms	Associate	21765901
Colorectal Neoplasms	Associate	19773751, 20480530, 20631058, 21539681, 21765901, 21926398, 23001792, 24346863, 25005166, 25081869, 25243792, 25535899, 25549357, 25611389, 26553291 View all (34 more)
Coronary Artery Disease	Associate	34493753
Coronary Disease	Associate	33026112
Coxa Magna	Associate	35118903
Cri du Chat Syndrome	Associate	36242045
Cytomegalovirus Infections	Stimulate	37147437
Death	Associate	17694325, 24458439, 25435365, 28976794, 32068246, 33779075
Death	Inhibit	33845873
Dendritic Cell Sarcoma Follicular	Associate	29327713
Dendritic Cell Sarcoma Interdigitating	Associate	29327713
Dermatofibrosarcoma	Associate	27256159
Developmental Disabilities	Associate	29802153
Diabetes Gestational	Associate	32626980
Diabetes Mellitus Type 1	Associate	35864094, 38161208
Diabetic Foot	Associate	37985432
Diffuse Intrinsic Pontine Glioma	Associate	31488577
DNA Virus Infections	Associate	30942459
Down Syndrome	Associate	27266699
Drug Related Side Effects and Adverse Reactions	Associate	28818106, 36053032, 37037414
Ectodermal Dysplasia	Associate	37887281
Endocrine System Diseases	Inhibit	36048167
Endometrial Neoplasms	Associate	23792601, 25153722, 28418882, 31640461, 31747378, 31843273, 34174908, 37866545
Endometriosis	Associate	29408993, 32802844, 33800594, 36232341, 36239569
Ependymoma	Associate	25586788
Epidermolysis bullosa simplex Ogna type	Associate	28675510
Epstein Barr Virus Infections	Stimulate	26337274
Epstein Barr Virus Infections	Associate	34825669
Esophageal Neoplasms	Associate	25400732, 25644061, 32005028, 33649858, 35414117, 36316365, 37005451
Esophageal Squamous Cell Carcinoma	Associate	20028503, 22867052, 25036033, 26314854, 32005028, 32375686, 35604910, 36316365
Essential Tremor	Associate	27447873
Facioscapulohumeral muscular dystrophy 1a	Associate	30122154
Familial ependymoma	Associate	25586788
Fetal Diseases	Associate	30120321
Fetal Distress	Associate	38330572
Fetal Growth Retardation	Associate	29802153
Follicular Cyst	Associate	33709777
Fragile X Syndrome	Associate	27378697
Gallbladder Diseases	Associate	19564843
Gallbladder Neoplasms	Associate	19860841
GATA2 Deficiency	Stimulate	23529930
GATA2 Deficiency	Associate	26337274, 27297789, 31434700, 38031139
Genetic Diseases Inborn	Associate	23613835
Genital Diseases Female	Associate	29408993
Glioblastoma	Associate	20920292, 23077658, 23190500, 23707559, 24079712, 24260522, 25400745, 28208648, 28255276, 28278055, 31186379, 31791385, 32595202, 33277782, 35197928 View all (5 more)
Glioma	Associate	21339190, 23077658, 24183680, 29046366, 29272522, 30042166, 31138033, 31434700, 31791385, 31858557, 31902873, 33064966, 33277782, 34036375, 34076983 View all (6 more)
Glioma	Stimulate	32271438
Glomerulonephritis IGA	Associate	39696012
Growth Disorders	Associate	29802153
Hallucinations	Associate	30367354
Head and Neck Neoplasms	Associate	21532618, 30469511, 33919657
Heart Diseases	Associate	34087994
Hematologic Diseases	Stimulate	23077658
Hematologic Neoplasms	Associate	23592277, 24492606, 29127861, 29327713, 34570179, 36747009, 37511137
Hemolysis	Associate	36129843
Hepatitis B	Associate	33102593
Hepatoblastoma	Associate	22809481
Hepatoblastoma	Stimulate	37990130
Hereditary Breast and Ovarian Cancer Syndrome	Associate	16331887, 19934278, 21399615, 29864144
Hereditary Breast and Ovarian Cancer Syndrome	Stimulate	18806826
Hereditary leiomyomatosis and renal cell cancer	Associate	14982841
Heredodegenerative Disorders Nervous System	Associate	28720872
Hernia Umbilical	Associate	24214728
Herpes Simplex	Associate	28811345
Histiocytic Sarcoma	Associate	29327713
Histiocytosis Langerhans Cell	Associate	29327713
HIV Infections	Associate	31020497
Hoarseness	Associate	24214728
Hodgkin Disease	Associate	10980109, 14982841
Huntington Disease	Associate	26636336
Hypereosinophilic Syndrome	Associate	27174585
Hyperplasia	Associate	32720035, 34493753
Hypertension Pulmonary	Associate	33313943
Hypertrophy	Associate	31409892
Hypotension	Associate	36485103
Hypoxia	Stimulate	23272057, 29699590, 37179372
Hypoxia	Associate	27644248, 33593912, 35729773
Hypoxia Brain	Associate	27644248
Hypoxia Brain	Inhibit	35729773
Idiopathic Noncirrhotic Portal Hypertension	Stimulate	32806748
Idiopathic Pulmonary Fibrosis	Associate	24652950, 29053336
Immune Reconstitution Inflammatory Syndrome	Associate	33313943
Immune System Diseases	Associate	27468692
Immunologic Deficiency Syndromes	Associate	24782121
Infections	Associate	28811345, 31747604, 31914379
Inflammation	Associate	19934278, 22588437, 24079712, 26506125, 27644248, 28539837, 34685528, 36037134, 36263173, 36754452, 37858275
Inflammation	Stimulate	21515604
Inflammatory Breast Neoplasms	Associate	21713757, 25051981
Infratentorial Neoplasms	Associate	29909548, 30923826
Intellectual Disability	Associate	24499724, 29802153
Kidney Neoplasms	Associate	22609199, 33626918
Kininogen Deficiency High Molecular Weight and Low Molecular Weight	Associate	37846894
Laryngeal Neoplasms	Associate	34825669
Leiomyoma	Associate	26888970, 27036951, 30120321
Leiomyosarcoma	Associate	30120321
Leukemia	Associate	21252986, 21921040, 23733339, 24736461, 25767098, 25955299, 26043758, 26592252, 26773042, 31886200, 32437908, 37399248, 38295690
Leukemia B Cell	Associate	23361872, 35086959
Leukemia Biphenotypic Acute	Associate	22956625, 30608448
Leukemia Erythroblastic Acute	Associate	29022893
Leukemia Lymphocytic Chronic B Cell	Associate	23615967, 27052808, 27191993, 28445158, 31227476, 37955424
Leukemia Lymphoma Adult T Cell	Associate	21228036, 26773042, 31295529, 31747604, 36516085
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	35896598
Leukemia Myeloid	Associate	22053108
Leukemia Myeloid Acute	Associate	19638619, 20190193, 22581002, 22976956, 23613835, 24142997, 24782121, 25398938, 25550361, 25932436, 25955299, 26043758, 26592252, 27000755, 27748863 View all (17 more)
Leukemia Myeloid Acute	Stimulate	36052036
Leukemia Myeloid Acute	Inhibit	36708555
Leukemia Myeloid Chronic Atypical BCR ABL Negative	Associate	36375042, 36601682
Leukemia Myelomonocytic Chronic	Associate	21828135, 22328940, 22553315, 26648538, 27486981
Leukemia Neutrophilic Chronic	Associate	33166403, 34068566, 36375042
Leukemia Prolymphocytic T Cell	Associate	24825865, 31216925
Leukemia T Cell	Associate	28542718, 31794134
Leukemic Infiltration	Associate	27000755, 36052036
Leukocytosis	Associate	29802153
Leukoplakia Oral	Associate	21697275
Liver Cirrhosis	Associate	24040354
Lung Diseases	Associate	19536353, 23826380
Lung Neoplasms	Associate	15720799, 19901851, 21546573, 23857401, 24745014, 24815696, 24859971, 25800736, 26362062, 27049834, 28539837, 31042721, 31081092, 31666665, 31773700 View all (9 more)
Lung Neoplasms	Stimulate	21539681
Lung Neoplasms	Inhibit	24928441
Lupus Erythematosus Systemic	Associate	27111767, 28973837, 31914379
Lymphatic Metastasis	Associate	16734726, 22161744, 22867052, 22994729, 24040354, 25005166, 25275664, 27323178, 27697098, 29089464, 29630085, 30304920, 37803297
Lymphatic Metastasis	Stimulate	23251464, 25159232, 26848980, 30542123
Lymphoma	Stimulate	11298590
Lymphoma	Associate	15856046, 21190999, 22323599, 22740705, 22850114, 24811343, 25893294, 26110843, 27122193, 27297789, 28320739, 30867289, 31419226, 31747604, 33389794 View all (4 more)
Lymphoma B Cell	Associate	11389032, 21078963, 21190999, 22323599, 23361872, 23538750, 23615967, 25807917, 27010137, 27282353, 28556566, 32408898, 34159682, 35522148, 36858198, 40512686 View all (1 more)
Lymphoma B Cell	Inhibit	24811343
Lymphoma B Cell Marginal Zone	Associate	24349473
Lymphoma Follicular	Associate	23361872, 24052547, 24162788, 24362818, 24435047, 28411252, 28430172, 32396854, 32668764, 33035457, 33233721, 34957565, 36104682, 38096164, 39191762
Lymphoma Large B Cell Diffuse	Associate	20081860, 20736451, 21190999, 22343534, 23361872, 25605023, 25762637, 26659825, 27102345, 27282353, 29895903, 31289198, 33104794, 33389794, 34044429 View all (8 more)
Lymphoma Mantle Cell	Stimulate	11298590
Lymphoma Mantle Cell	Associate	27052808, 27998273, 34376807, 37598282, 38460798
Lymphoma Non Hodgkin	Associate	11389032, 22850114, 23948956, 25893294, 35031563
Lymphoma Primary Cutaneous Anaplastic Large Cell	Associate	34382383
Lymphoma Primary Effusion	Associate	39339966
Lymphoma T Cell	Stimulate	23948956
Lymphoma T Cell	Associate	28122867, 35562412
Mastocytosis Systemic	Associate	23958953
Medulloblastoma	Associate	22287205, 30632221, 31582835, 35315927, 36635771, 36849558
Melanoma	Associate	17640228, 21569352, 22948084, 24079712, 26304929, 26621846, 26936398, 27095580, 29202777, 29990499, 32041674, 34288815, 35131084, 36220978, 36768289, 36858198 View all (1 more)
Meningioma	Stimulate	28195122
Meningioma	Associate	32729292
Mesothelioma	Associate	36195655
Mesothelioma Malignant	Stimulate	30510965
Mesothelioma Malignant	Associate	33849532, 33922336, 34257556
Mitochondrial Diseases	Associate	30404791
Mixed Tumor Malignant	Associate	22809481, 30120321
Mosaic variegated aneuploidy syndrome	Stimulate	21406404
Mouth Neoplasms	Associate	21697275, 21989926, 30903272, 36309370
Multiple Myeloma	Associate	26755663, 28052011, 28362441, 29130642, 29687868, 30285865, 30942459, 31571328, 34455369, 36223594, 36747009, 37239949
Multiple Myeloma	Stimulate	39713879
Muscle Hypotonia	Associate	29802153
Myelodysplastic Myeloproliferative Diseases	Associate	28626218, 33845873
Myelodysplastic Syndromes	Associate	21714648, 22869879, 24782121, 25225797, 25574665, 26508027, 26970171, 27527853, 27881874, 28626218, 29127861, 29417633, 30004110, 30222780, 30608448 View all (12 more)
Myeloproliferative Disorders	Associate	30004110
Myeloproliferative Syndrome Transient	Associate	23733339
Myoclonic Epilepsies Progressive	Associate	10980109
Myopathies Structural Congenital	Associate	33922336
Nasopharyngeal Carcinoma	Associate	21368858, 23289480, 23874688, 24739462, 30353102, 32373970, 33965547, 34906623, 35421264
Nasopharyngeal Neoplasms	Associate	23289480
Native American myopathy	Stimulate	34529278
Necrosis	Associate	28738014
Nemaline myopathy 5	Associate	35813302
Neoplasm Invasiveness	Associate	14965441, 21406404, 24691023, 25084021, 31843273
Neoplasm Invasiveness	Stimulate	22527102
Neoplasm Metastasis	Associate	19008416, 19969553, 20543557, 21406404, 21614565, 21837672, 22161744, 22867052, 23110793, 23792601, 24097870, 24852755, 25051981, 25081869, 25341040 View all (30 more)
Neoplasm Metastasis	Stimulate	26265454, 28832071, 34706521, 36946271, 39395714
Neoplasm Recurrence Local	Associate	25051981
Neoplasms	Associate	11389032, 15856046, 16734726, 17024127, 17502350, 17541304, 17640228, 17694325, 18159594, 18176935, 18377425, 18430739, 18460542, 18591938, 18637271 View all (274 more)
Neoplasms	Stimulate	19564843, 20920292, 21837672, 22956625, 25243792, 25990542, 26265454, 27713574, 28418882, 30542123, 35048632, 35627262, 36263173
Neoplasms	Inhibit	20736451, 21406404, 22161744, 23949225, 24097870, 25409661, 25955299, 26162541, 26304929, 26936398, 27764181, 28052011, 28539837, 29202477, 29941599 View all (6 more)
Neoplasms Multiple Primary	Associate	37932047
Neoplasms Squamous Cell	Associate	27060168, 29327713, 38600314
Neuroblastoma	Associate	24079712, 25435365, 29202477, 29507419, 29802153, 34016720, 34217898, 35467087, 35817829, 37762082, 37932047
Neuroectodermal Tumors Primitive	Associate	27842164
Neuroendocrine Tumors	Associate	23011159, 23676460
Neurofibrosarcoma	Associate	28813519, 30867289, 37837931
Neurologic Manifestations	Associate	21216957
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	33166403
Nevus	Associate	17640228
Non Muscle Invasive Bladder Neoplasms	Associate	17694325, 22705924
Oncogene Addiction	Associate	34967593
Oral Submucous Fibrosis	Associate	26934322
Oropharyngeal Neoplasms	Associate	27793210, 28818106
Osteoarthritis	Associate	28744016, 31409892
Osteoglophonic dwarfism	Associate	35617639
Osteosarcoma	Associate	20127006, 26265454, 27019355, 27223261, 28388584, 28679390, 28902349, 31486480, 31651209, 32141531, 32633340, 32945076, 35264070, 35751755
Ovarian Diseases	Associate	36239569
Ovarian Neoplasms	Stimulate	21205084
Ovarian Neoplasms	Associate	24335192, 25025074, 25545504, 25955318, 27563817, 29575713, 29630768, 29693178, 30166592, 31016892, 31092221, 31389610, 31540229, 31704732, 32004442 View all (6 more)
Pancreatic Intraductal Neoplasms	Associate	25084021
Pancreatic Neoplasms	Associate	18980972, 23272057, 23674382, 26848980, 27644252, 28813705, 30304920, 36053032, 37198697
Pancreatic Neoplasms	Stimulate	28242758
Parathyroid Neoplasms	Associate	22740705, 34054720, 36611251
Parkinson Disease	Associate	26889637
Peeling Skin Syndrome	Associate	22869879
Periodontitis	Inhibit	24501407
Peritonitis	Associate	36446780, 37453150
Personality Disorders	Stimulate	20087897
Personality Disorders	Associate	22527102, 23615967
Pituitary Neoplasms	Associate	26593398
Pneumocephalus	Associate	29895903
Polycythemia Vera	Associate	27447873
Polyps	Associate	26871294
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	26268310, 34581783, 37932047
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22237106, 25595890, 26268310, 28678185, 30404791, 31794134, 32068246, 32349972, 33436855, 33712646, 38429501
Primary Myelofibrosis	Associate	21921040, 23996481, 27037840, 27447873, 28351937, 32194289, 34911786, 36000955, 37846894, 38386293
Progressive Transformation of Germinal Centers	Associate	24052547
Prostate Cancer Hereditary 7	Associate	22442719
Prostatic Hyperplasia	Associate	22588437
Prostatic Neoplasms	Associate	12374981, 15817459, 15856046, 16734726, 18159594, 18637271, 19567509, 19901851, 20087897, 20622896, 21521786, 22272343, 22442719, 22531786, 23739676 View all (45 more)
Prostatic Neoplasms	Stimulate	20478051, 23190500, 25341040
Prostatic Neoplasms	Inhibit	22179855
Prostatic Neoplasms Castration Resistant	Associate	35031563, 36300627, 36629431, 37104249, 37475584
Prostatitis	Stimulate	18806826, 22588437, 22766277
Prostatitis	Associate	20087897, 20479932, 20622896, 24492483, 32873863, 38295690
Pseudolymphoma	Associate	34257556
Pulmonary Disease Chronic Obstructive	Associate	31666665, 38114929
Pulmonary Embolism	Associate	33313943
Purpura Thrombocytopenic Idiopathic	Inhibit	24433164
Purpura Thrombocytopenic Idiopathic	Associate	27000755
Rectal Neoplasms	Associate	25159232
Renal cell carcinoma 1	Associate	30297384
Retinal Dysplasia	Associate	21697275
Retinoblastoma	Stimulate	37311441
Rhabdoid Tumor	Associate	23190500, 37228094
Rhabdomyosarcoma	Stimulate	30120321
Rhabdomyosarcoma	Associate	36941772, 37858275
Rhabdomyosarcoma Embryonal	Associate	30120321
Salivary Gland Neoplasms	Associate	26377323
Sarcoma	Associate	29415665, 32264965, 32302562, 39491746
Sarcoma	Inhibit	35537449
Sarcoma Clear Cell	Associate	26848979
Sarcoma Ewing	Associate	25435365, 25625846, 30879952
Sarcoma Kaposi	Stimulate	22593192
Sarcoma Kaposi	Associate	24501407
Sarcoma Synovial	Associate	23110793, 27125524, 28738014
Scleroderma Systemic	Associate	32041748
Sebaceous Gland Neoplasms	Associate	29760516
Simpson Golabi Behmel syndrome	Associate	22190405, 23592277, 29802153
Sinonasal undifferentiated carcinoma	Stimulate	39565059
Sjogren's Syndrome	Associate	35795677
Skin Diseases	Associate	30373888
Skin Neoplasms	Associate	22932898, 28977801
Small Cell Lung Carcinoma	Associate	22961666, 23714854, 23857401, 23967231, 28196592, 32457468, 32761059, 34719665, 37395033
Small Cell Lung Carcinoma	Stimulate	24079712
Sotos Syndrome	Associate	23592277
Spinal Cord Diseases	Associate	32529280
Splenomegaly	Associate	30373888
Squamous Cell Carcinoma of Head and Neck	Stimulate	21697275
Squamous Cell Carcinoma of Head and Neck	Associate	21989926, 22161744, 25472588, 25762643, 27793210, 28878842, 30469511, 30970517, 32452220, 32626925, 32720035, 33758106, 34164962, 34519570, 36813772 View all (4 more)
Stomach Diseases	Associate	36401232
Stomach Neoplasms	Associate	16734726, 18377425, 18430739, 22675170, 22994729, 24738879, 26799422, 26871474, 27938379, 28214253, 28970725, 29335012, 29339121, 29489064, 31290116 View all (8 more)
Stomach Neoplasms	Stimulate	36401232
Tachycardia Atrioventricular Nodal Reentry	Associate	32303902
Tertiary Lymphoid Structures	Associate	23251464, 35048632
Tertiary Lymphoid Structures	Stimulate	28832071
Testicular Neoplasms	Stimulate	21546573
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities	Associate	32853382
Thrombocythemia Essential	Associate	27991718, 32732354
Thrombocytopenia	Associate	30373888
Thrombocytosis	Associate	21921040
Thyroid Cancer Papillary	Inhibit	26323637
Thyroid Cancer Papillary	Associate	30915752, 31591432, 31766881
Thyroid Carcinoma Anaplastic	Associate	29275295, 31766881
Thyroid Neoplasms	Associate	26427660, 28416772, 29275295
Thyroiditis	Associate	31766881
Triple Negative Breast Neoplasms	Associate	20864510, 26162541, 30295334, 31519689, 31770532, 33246425, 34825659, 35228654, 35813302, 35846880, 36446780, 38171333, 39300407
Triple Negative Breast Neoplasms	Stimulate	27113214
Typical Teratoid Rhabdoid Tumor	Associate	23190500, 37228094
Uniparental Disomy	Associate	22553315
Urethral Neoplasms	Associate	29312470, 37530328
Urethral Neoplasms	Stimulate	30542123
Urinary Bladder Neoplasms	Associate	17694325, 21539681, 23815091, 25501205, 26517683, 27090213, 28060766, 30542123, 37530328, 37542643, 40550924
Urinary Bladder Neoplasms	Stimulate	22766277
Uterine Cervical Neoplasms	Associate	24018208, 25007342, 25275664, 27697098, 31273925, 31661141, 32141537, 32985327, 35505294, 40197384
Uterine Cervicitis	Associate	31273925
Uterine Neoplasms	Associate	31843273
UV Sensitive Syndrome	Associate	32457468
Uveal melanoma	Associate	31002139, 33721449, 39395714
Vascular Diseases	Associate	34493753
Virus Diseases	Associate	28811345
Vitamin D Deficiency	Associate	34597852
Weaver syndrome	Associate	22177091, 22190405, 23592277, 24214728, 26694085, 29681499, 29802153, 30967505, 32243864
Wilms Tumor	Associate	26655220

EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit)