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

Gene

• Entrez ID: 2146
• Gene name: Enhancer of zeste 2 polycomb repressive complex 2 subunit
• Gene symbol: EZH2
• Synonyms (NCBI Gene): ENX-1, ENX1, EZH2b, KMT6, KMT6A, WVS, WVS2
• Chromosome: 7
• Chromosome location: 7q36.1
• Summary: 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

SNPs

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

miRNA

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

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

Gene ontology (GO)

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

Other IDs

• MIM: 601573
• HGNC: 3527
• e!Ensembl: 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

Pathways

KEGG:

Lysine degradation
Metabolic pathways
Polycomb repressive complex
MicroRNAs in cancer

Reactome:

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

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
Childhood neoplasm	Likely pathogenic	rs2536397734	RCV003326286	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EZH2-related disorder	Pathogenic; Likely pathogenic	rs587783626, rs587783625, rs2537032583, rs397515548	RCV004734701 RCV001249312 RCV004534416 RCV004537252	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic	rs2536397734	RCV003326286	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma SHH activated and TP53 wild-type	Likely pathogenic	rs1554486390	RCV006254077	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs397515548	RCV006273090	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2129476917	RCV001374952	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Weaver syndrome	Likely pathogenic; Pathogenic	rs2129476891, rs2129467664, rs587783627, rs587783626, rs587783625, rs2129467486, rs776312600, rs2129465354, rs797045568, rs2129469054, rs2536334836, rs1321951994, rs193921146, rs193921147, rs193921148, rs1060503430, rs1131692184, rs1563181659, rs1584862620, rs1584862929, rs1584875099, rs1584844589, rs397515548, rs1802412684, rs1808822115, rs1563181538	RCV001706770 RCV002007265 RCV000145978 RCV000145975 RCV000145972 RCV002273099 RCV002274861 RCV002274862 RCV000192778 RCV003149160 RCV003444041 RCV004017179 RCV000023117 RCV000023118 RCV000023119 RCV000477287 RCV000495948 RCV000699921 RCV000803814 RCV000793571 RCV000805355 RCV000797420 RCV000055901 RCV001222648 RCV001201666 RCV001253148	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, FOLLICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, LARGE B-CELL, DIFFUSE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROMES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER EXTREMITY DEFORMITIES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEAVER-LIKE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	CTD_human_DG	26424790		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	29022893		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	25800664		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	26904942, 27169594		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	23099237, 23613835, 27881874, 28678185, 30890554, 31794134		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia, minimal differentiation	Myeloid Leukemia	BEFREE	25022553		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	29530751		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	24612037		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	24097870, 25486432, 28314309, 28554757, 30458017		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	22552406, 24097870, 24850841, 25800736, 27312177, 27587466, 28109288, 28387316, 28539837, 28653505, 28796375, 28938616, 30280514, 30343006, 30527357, 31042721, 31456359		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	20573371		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25084021, 26871294, 30214616		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	30214616		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	25657202, 37129912	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	27149985, 31363169		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27169594		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	21190999, 24304372, 24469040, 24802772, 25605023, 25651430, 27282353, 28438623, 30112706, 31289198		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	25890085		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22287205, 22696229, 24264533, 28329683, 28536141, 28978137, 29108280, 30632221, 31582835, 31676871		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	21339190		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	21228036, 22431509, 26773042, 30258009, 31295529		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	27149985, 31363169		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	28740493, 31841965		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	20087897		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	31048495		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	31048495	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	20478527, 29121865, 29174332, 30541888, 30779601, 30968962		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	21289264, 22399519, 29275295		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	33166403	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	36129843	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	37973947	Associate	★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	21406404, 24344012	Associate	★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	31423206		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	22622284, 23395645, 24074410, 24798718, 27594424		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	35173526	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	31736707		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31736707		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	29515022		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	31028191	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	31028191		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	20478527, 25500144		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	27149985, 31363169		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	24760151		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27295295, 27936205, 29896299, 30972206, 31830648		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	21515604	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	24260522, 27136105	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	25907866, 26892683, 31431463		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	24162653		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27295295, 27936205, 29896299, 30972206, 31830648		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	31408621		★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	23190500		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	28720872	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28720872		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	26552012		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24760151, 27909059, 31747802		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	35795677	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	21078963, 22194861, 22323599, 23079660, 23538750, 23615967, 23948956, 25651430, 26027790, 26411517, 27179746, 27282353, 28556566, 29473431, 30371509, 30693983, 30842630, 31322273, 31808854		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Behavioral tic	Tourette syndrome	BEFREE	27764181		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	30120321		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	16575874, 31115564		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	16012774, 16215315, 16361539, 20148941, 21539681, 22766277, 23354591, 24490857, 25252918, 25431950, 25501205, 26268246, 26517683, 26580594, 26939702, 27300769, 27630289, 27998761, 28060766, 28223825, 28228601, 28515962, 28671703, 28968986, 29231261, 29445179, 30138427, 30397178, 31289569, 31383940		★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	37399248	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	CTD_human_DG	26424790		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	20920292, 23414300		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	20920292, 37147437	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	14500907, 17018586, 17453341, 17786943, 19099573, 19340297, 19661437, 19709408, 19886718, 19901851, 19934278, 19969553, 20306127, 20385124, 20952513, 21215703, 21241820, 21367748, 21406404, 21465172, 21499305, 21614565, 21828058, 21884980, 22211105, 22436627, 22766277, 22992977, 23251464, 23283488, 23539298, 23684884, 23688634, 23750239, 24122997, 24344012, 24481780, 24516139, 24697523, 25499219, 25998860, 26868841, 27113214, 27303043, 27436059, 27494834, 27502594, 27517917, 27716745, 27764181, 28068325, 28253895, 28914785, 28925391, 29089464, 29113202, 29207119, 29351847, 29396474, 29669287, 29689244, 29790898, 29864144, 29925528, 29940916, 29959321, 30022044, 30048163, 30066891, 30121333, 30378143, 30578411, 30655550, 30760814, 30941654, 30952377, 30968962, 31004257, 31036541, 31140859, 31263101, 31282094, 31367244, 31424661, 31693439		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21903722		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	14965441, 15856046, 16331887, 16766534, 17502350, 18176935, 19099573, 19340297, 19886718, 19901851, 19934278, 19969553, 20864510, 21399615, 21406404, 21614565, 21672285, 21828058, 21884980, 22094936, 22527102, 22563434, 22766277, 23251464, 23283488, 23759596, 23918806, 24344012, 25051981, 25193989, 26510790, 27102007, 27113214, 27303043, 27399922, 27494834, 27764181, 27831649, 28068325, 28241804, 28914785, 29089464, 29864144, 29940916, 30066891, 30655550, 30760814, 32152520, 32595202, 33057161, 33246425, 33247371, 33593912, 33750924, 34287743, 34341433, 34825659, 35163710, 35538070, 35813302, 36038549, 36048167, 36222718, 36329030, 36820722, 37803297, 39174513, 39300407	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	23190500, 24079712, 28253895, 38254989	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchial Diseases	Bronchial disease	Pubtator	24097870	Stimulate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	29039454		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	22194861, 26473533, 27282353, 31419226		★☆☆☆☆ Found in Text Mining only
Camptodactyly 1	Camptodactyly	Pubtator	24214728	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	23289480		★☆☆☆☆ Found in Text Mining only
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	28410242		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15720799, 17024127, 17502350, 20479932, 21399615, 21697275, 21840484, 22740705, 23011159, 23592277, 23735840, 23857401, 23949225, 24040354, 24097870, 24339737, 24622842, 24691023, 25893294, 26162541, 26871474, 27494834, 27764181, 28253895, 28418882, 29507419, 29693178, 30622230, 31486480, 33296708, 33336896, 33849532, 34036375, 34667274, 34923811, 35210568, 35245884, 35449124, 37069142, 37244352, 37530328, 37990130	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16012774, 17694325, 18591938, 20564407, 20573371, 20684863, 21300475, 21406404, 22527102, 23110793, 24079759, 24516139, 24771265, 25289642, 26096306, 27502594, 29327713, 29435983, 30022044, 30138427		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	38477804	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	24691023, 30215205	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	27050973	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15856046, 18591938, 21330577, 22809481, 23421437, 24040354, 24079712, 24966962, 25226601, 26109807, 26191190, 26404566, 26517514, 26715809, 27644248, 28800314, 29152663, 29581297, 31011256, 31376657, 31727135, 32104698, 32522890, 32806748, 33180829, 33297932, 33748276, 33910445, 34545456, 35208478, 35253323, 35321452, 35627262, 35659256, 35855852, 36087682, 36588357, 37626362, 37986299, 37990105, 39516467	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36071871	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37335078	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	19564843	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	26415052	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	14965441, 23759596	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	27113214	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	24266940	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	26743471, 28359267, 34667274, 34706521, 37037414, 37244352	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16012774, 16215315, 16361539, 17088996, 20148941, 21539681, 22766277, 23354591, 24490857, 25431950, 25501205, 26268246, 26517683, 26580594, 26939702, 27300769, 27630289, 27998761, 28223825, 28228601, 28515962, 28671703, 28968986, 29231261, 29445179, 30138427, 30397178, 31289569, 31383940		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	28795320		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15720799, 19901851, 21539681, 21546573, 22112692, 23857401, 24132606, 24850841, 24928441, 25428391, 25800736, 26676756, 26754405, 27312177, 27587466, 28314309, 28322158, 28672805, 29156731, 29435024, 30223276, 30343006, 30487290, 30519315, 30555330, 31042721, 31081092, 31456359, 31666665, 31773700		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	22144423, 24335192, 32004442	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	22622284	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31929143, 35173526	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20920340, 21610323, 22609199, 23057811, 24312307, 25600645, 28466784, 28976794, 29286132, 32303902, 33456353, 34307682, 35513791, 36808829	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25877750, 30510965	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	23857401	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21532618, 25275664, 27323178, 29630085, 33247371, 34195851, 35864175	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	17541304	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	30215205		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20668008, 20686362, 21115743, 21205084, 21216927, 21614565, 21818714, 22144423, 22964433, 23360797, 23523787, 23603558, 24335192, 24755199, 24771265, 25077680, 25260883, 25545504, 27563817, 27610467, 28620234, 28706445, 29434212, 29435063, 29575713, 29576612, 29630768, 29669287, 29726819, 30166592, 31389610, 31737207		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	38146588	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	34087994	Associate	★☆☆☆☆ Found in Text Mining only
CATSHL syndrome	Catshl syndrome	Pubtator	24214728	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	23526793, 31202798		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	19047178, 21629038, 24018208, 24681730, 25007342, 26631032, 27092879, 27697098, 28681918, 30344723, 31661141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	19047178, 21629038, 24018208, 24681730, 25007342, 27092879, 27697098, 28681918, 30344723, 31661141		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	27169594		★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	25890085		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22287205, 22696229, 24264533, 28329683, 28536141, 28978137, 29108280, 30632221, 31582835, 31676871		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	21339190		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	18591938, 22809481, 29759640, 32505533	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	23887863, 24337160, 28923203, 29530475, 29642935		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholecystolithiasis	Cholecystolithiasis	Pubtator	19564843	Stimulate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	24852755	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	31613064		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	28963737		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	32066746	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30566000		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27052808, 27191993, 28260932, 28445158, 30608448, 31216925		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	22898539, 26697989, 30353413, 30706327		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clear cell sarcoma of kidney	Sarcoma Of Kidney	BEFREE	26848979		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	37399248	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29802153	Associate	★☆☆☆☆ Found in Text Mining only
COHEN-GIBSON SYNDROME	Cohen-Gibson Syndrome	BEFREE	30793471, 31736240		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28439030, 29626115		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21765901, 23116973, 25535899, 25549357, 26452129, 26871294, 27634879, 28748258, 29654889, 30569799, 30716533, 31283006, 31317325		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	21765901	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	27634879		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20631058, 21539681, 21926398, 23001792, 23116973, 23424038, 23523318, 24346863, 24488618, 25326896, 25549357, 25611389, 25695204, 26553291, 26859127, 26871294, 27172794, 27983539, 28069878, 28147317, 28286564, 28796262, 28925507, 28933484, 28938648, 29061982, 29212262, 29435024, 29495975, 29535803, 29710537, 29888110, 30038060, 30061944, 30093632, 30105513, 30214616, 30362162, 30626446, 30770796, 30972996, 31062382, 31118686, 31317325, 31694013, 31786844		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19773751, 20480530, 20631058, 21539681, 21765901, 21926398, 23001792, 24346863, 25005166, 25081869, 25243792, 25535899, 25549357, 25611389, 26553291, 26567139, 26871294, 27882937, 27983539, 28147317, 28675510, 29495975, 30093632, 31786844, 31957825, 32141544, 32635858, 33109776, 33207890, 33455110, 33591945, 33966039, 34288823, 34617573, 34671029, 34923811, 34967593, 35048632, 35346226, 35449124, 35773744, 35857351, 35955891, 36274363, 36594098, 36982429, 37069142, 37565053, 37837384	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	BEFREE	24214728		★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	24079712		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	27857060, 28923203, 29530475, 29970899, 31126817		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18623083, 22609199, 22992977, 24079759, 24406044, 25571919, 25600645, 25877750, 27879367, 28976794, 28978010, 28978636, 29286132, 30405850, 31417274		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30089854		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30089854		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	34493753	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	33026112	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30089854		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	CTD_human_DG	26424790		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis, Type 1	Craniosynostosis	CTD_human_DG	26424790		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	27909059		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	25609585, 25614949, 25671303, 28746871		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	21515604, 27539752, 28744016, 29171124, 31409892		★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	10980109		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25350786		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29802153	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19390090, 29261844		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	32626980	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19390090, 29261844		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	35864094, 38161208	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26786119, 31747802		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	37985432	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28315733		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	29275295		★☆☆☆☆ Found in Text Mining only
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	BEFREE	29118968, 31022591, 31488577, 31848724		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	20081860, 20104248, 21190999, 22194861, 23051747, 23361872, 24304372, 24327543, 24469040, 24634383, 24802772, 25149548, 25605023, 25651430, 25762637, 26473533, 27102345, 27184221, 27282353, 27505670, 28438623, 28835384, 29572378, 30112706, 30705065, 31205561, 31287161, 31289198, 31419226, 31831267		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	CTD_human_DG	20081860		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	29416002		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10780782, 23733339, 27266699		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	27266699	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	30246858		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	22177091, 22190405, 22604720, 24214728, 9781912		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	31724824		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	37887281	Associate	★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	30120321		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	36048167	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG	21903722		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	23792601, 25153722, 28088786, 28418882, 29344151, 29691644, 29805666, 31640461, 31843273		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG	21903722		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23792601, 25153722, 28418882, 31640461, 31747378, 31843273, 34174908, 37866545	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	25820690, 28718381, 28754964, 29408993		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	29408993, 32802844, 33800594, 36232341, 36239569	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	30923826		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa simplex Ogna type	Epidermolysis bullosa	Pubtator	28675510	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	21115743, 22144423, 22964433, 23360797, 23523787, 23603558, 24335192, 25077680, 25260883, 29434212, 29576612		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	24953652, 26590165		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	25400732, 25644061, 26631178, 29916899, 31102664		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	25400732, 25644061, 26631178, 29916899, 31102664		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25400732, 25644061, 32005028, 33649858, 35414117, 36316365, 37005451	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	20028503, 22867052, 25036033, 26314854, 32005028, 32375686, 35604910, 36316365	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	27447873	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	18381423, 19502792, 21407224, 24911143, 25625846, 30879952, 31788075		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	19502792		★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	23887863		★☆☆☆☆ Found in Text Mining only
Facioscapulohumeral muscular dystrophy 1a	Facioscapulohumeral muscular dystrophy	Pubtator	30122154	Associate	★☆☆☆☆ Found in Text Mining only
Familial Isolated Hyperparathyroidism	Hyperparathyroidism	BEFREE	26876532		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	29100324		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	29100324		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	27815838		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	26888970, 30120321		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	25380300, 28332284, 29106960, 30106235, 30689973		★☆☆☆☆ Found in Text Mining only
Follicular Cyst	Follicular cyst	Pubtator	33709777	Associate	★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	21289264		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	19860841, 27345740, 28624787, 30282996, 31174563		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	19860841	Associate	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	23529930	Stimulate	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	26337274, 27297789, 31434700, 38031139	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	18167341, 19934320, 21321380, 23077658, 23190500, 23414300, 23707559, 25400745, 25428914, 25444902, 25601206, 26295306, 26892683, 28208648, 28278055, 28642877, 28737508, 28833137, 29035367, 29132376, 29228694, 29643989, 30376874, 30683859, 31008529, 31367244, 31431463, 31513636, 31599491, 31746375, 31791385		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20920292, 23077658, 23190500, 23707559, 24079712, 24260522, 25400745, 28208648, 28255276, 28278055, 31186379, 31791385, 32595202, 33277782, 35197928, 36263173, 36430394, 37147437, 37277696, 37279651	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	18167341, 19605626, 19934320, 20946108, 21321380, 23077658, 23190500, 23414300, 23707559, 24260522, 25400745, 25428914, 25444902, 25601206, 26295306, 28208648, 28278055, 28642877, 28737508, 28833137, 29132376, 29228694, 29643989, 30376874, 30683859, 31008529, 31367244, 31431463, 31513636, 31599491, 31746375, 31791385		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20946108, 21339190, 22992977, 23077658, 24139839, 25046371, 25601206, 26435191, 27880940, 28044469, 28255276, 28263309, 28737508, 28862715, 29046366, 29048683, 29118968, 29221202, 30042166, 30105866, 30131250, 30305602, 30425057, 31043779, 31096221, 31138033, 31380279, 31431463, 31468686, 31669648, 31751560, 31791385, 31842978		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	21339190, 23077658, 24183680, 29046366, 29272522, 30042166, 31138033, 31434700, 31791385, 31858557, 31902873, 33064966, 33277782, 34036375, 34076983, 34739394, 36275907, 36389690, 37147437, 37330579, 40653505	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32271438	Stimulate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	39696012	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	28246193, 30452487		★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	27431680		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	29802153	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	29285811, 30469511, 31562203		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	21532618, 30469511, 33919657	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	34087994	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	23077658	Stimulate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	22677129, 24522270, 25149548, 26762561, 27830540, 29127861, 30220457, 30706327, 30715616, 31525019, 31827082, 31846764		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	23592277, 24492606, 29127861, 29327713, 34570179, 36747009, 37511137	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	29289837, 29327713		★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	36129843	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	33102593	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	22809481	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	26848027		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	37990130	Stimulate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	16331887, 19934278, 21399615, 29864144	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	18806826	Stimulate	★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	25380300		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	30993446		★☆☆☆☆ Found in Text Mining only
Hereditary Leiomyomatosis and Renal Cell Cancer	Hereditary Leiomyomatosis and Renal Cancer	BEFREE	31565482		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	10980109, 23361872, 23948956, 25893294, 27010137, 27282353, 30371509		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	10980109, 14982841	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	26636336	Associate	★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	27174585	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29261844		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	27936205		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	26163537		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	24292603, 27071708		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	32720035, 34493753	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	33313943	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	31409892	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	30566000		★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	36485103	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23272057, 29699590, 37179372	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27644248, 33593912, 35729773	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	31190748		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	22662197, 29854032		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	24652950, 29053336		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	24652950, 29053336	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	27468692	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29907810		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	27909059, 31160593, 31273598, 31747802		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	24294976, 29689244		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	24499724, 29802153	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	28696078, 31096221, 31724824		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	31631036		★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	18393368, 24122997		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	25289642, 29759640		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	27050973		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	23526793, 31202798		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	22677129		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	CTD_human_DG	26457647		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	22593192, 24501407		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	19657361, 29248547, 31423206		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30341286, 30820607		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	22609199, 33626918	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	34825669	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	26656176, 27542077, 28962111, 30811870, 30868890		★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	30120321		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	26888970, 27036951, 30120321	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	30120321	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	20838376, 23349306, 23733339, 24097338, 24612037, 25942537, 26904942, 27879268, 28542718, 29289837, 29438697, 29530751		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21252986, 21921040, 23733339, 24736461, 25767098, 25955299, 26043758, 26592252, 26773042, 31886200, 32437908, 37399248, 38295690	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	22053108	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19638619, 20190193, 22581002, 22976956, 23613835, 24142997, 24782121, 25398938, 25550361, 25932436, 25955299, 26043758, 26592252, 27000755, 27748863, 27983727, 28918518, 29321554, 31886200, 32066746, 32112433, 32380535, 32732356, 33845873, 35747989, 35941836, 36232694, 37142255, 37511137, 38295690, 40133836, 40312368	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36052036	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36708555	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	21828135, 22328940, 22553315, 26648538, 27486981	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Neutrophilic Chronic	Neutrophilic leukemia	Pubtator	33166403, 34068566, 36375042	Associate	★☆☆☆☆ Found in Text Mining only
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3	Lymphoblastic Leukemia	BEFREE	23792601		★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	31565482		★☆☆☆☆ Found in Text Mining only
Leukemia, Megakaryoblastic, of Down Syndrome	Leukemia, Megakaryoblastic, Of Down Syndrome	CTD_human_DG	24056718		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	17172412, 18410541, 19638619, 21612874, 21734239, 22469984, 22677129, 23099237, 23613835, 23645565, 23760684, 24953053, 25800664, 25934047, 26592252, 26762561, 26789100, 26812882, 27881874, 27941792, 28447382, 28678185, 28951561, 29069576, 29321554, 29530751, 30890554, 31331874, 31413097, 31711520, 31751472, 31794134		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	22328940, 22677129		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	22431509, 30258009		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	28214878		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	21697275		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	30120321		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	21697275, 21989926, 28759046		★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	27936205		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17596871, 17676662, 18591938, 19386347, 21512140, 21769904, 22370893, 22962603, 23291714, 23620257, 24002871, 24040354, 24211739, 24845612, 24916103, 24966962, 25226601, 25494962, 25500144, 26109807, 26191190, 26404566, 26517514, 26715809, 26718325, 26733151, 26800240, 27207647, 27239797, 27380494, 27644248, 27890434, 27899259, 28282787, 28292020, 28338656, 28810927, 28881044, 28928088, 29113254, 29152663, 29316949, 29435024, 29574790, 29581297, 29653269, 29992318, 30008615, 30150059, 30274685, 30626493, 30711627, 30718359, 30786928, 31004581, 31097223, 31201367, 31289599, 31305292, 31376657, 31497351, 31582742, 31720078, 31727135, 31757187		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17596871, 18591938		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	24040354	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	29789597		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29262600, 30711627, 31727135		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	19536353, 23826380	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	30851295		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	15720799, 19901851, 21546573, 23857401, 24745014, 24815696, 24859971, 25800736, 26362062, 27049834, 28539837, 31042721, 31081092, 31666665, 31773700, 31855281, 32271434, 35025697, 35706127, 36629984, 36670102, 36902378, 37992808, 39174513	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21539681	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24928441	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	25428391, 25629630, 25979827, 29061511, 29632194, 30250255, 31331645		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	18398941, 27111767, 28973837, 31106974, 31599115		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	27111767, 28973837, 31914379	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	18398941, 27111767, 28973837, 31106974, 31599115		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18398941, 22014533, 27111767, 28973837, 29740453, 31106974, 31599115, 31747802		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	18398941, 27111767, 28973837, 31106974, 31599115		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	16734726, 22161744, 22867052, 22994729, 24040354, 25005166, 25275664, 27323178, 27697098, 29089464, 29630085, 30304920, 37803297	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23251464, 25159232, 26848980, 30542123	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	29289837		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	11298590	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	BEFREE	14532106, 16361539, 21190999, 21367748, 22194861, 22323599, 22850114, 23051747, 23075734, 23079660, 23298878, 23529930, 23948956, 24052547, 24097338, 24469040, 24697523, 24802772, 24857928, 24987060, 25457180, 25893294, 25942537, 27122193, 27135738, 27261606, 27505670, 28320739, 28412742, 28659443, 28811957, 28835384, 29473431, 30112706, 30218753, 30371509, 30885427, 30979734, 31205561, 31419226, 31747604, 31846764		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	15856046, 21190999, 22323599, 22740705, 22850114, 24811343, 25893294, 26110843, 27122193, 27297789, 28320739, 30867289, 31419226, 31747604, 33389794, 33709777, 36858198, 37460547, 40512686	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	CLINVAR_DG	23023262, 24563539		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma Follicular	Lymphoma	Pubtator	23361872, 24052547, 24162788, 24362818, 24435047, 28411252, 28430172, 32396854, 32668764, 33035457, 33233721, 34957565, 36104682, 38096164, 39191762	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Primary Cutaneous Anaplastic Large Cell	Primary cutaneous anaplastic large cell lymphoma	Pubtator	34382383	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	20081860, 22194861, 23051747, 24052547, 24469040, 24634383, 24802772, 24857928, 25457180, 27102345, 27261606, 28106467, 28411252, 28430172, 28659443, 29473431, 30693983, 31819273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Follicular	Lymphoma	CTD_human_DG	24362818		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Follicular	Lymphoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Follicular, Grade 1	Lymphoma	CTD_human_DG	24362818		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular, Grade 2	Lymphoma	CTD_human_DG	24362818		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular, Grade 3	Lymphoma	CTD_human_DG	24362818		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	CTD_human_DG	24362818		★☆☆☆☆ Found in Text Mining only
Lymphoma, Mixed-Cell, Follicular	Lymphoma	CTD_human_DG	24362818		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	23023262, 24563539, 25154026, 25253781, 25457180, 27555605, 28835384, 29456795, 29473431, 30112706, 30885427		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	23023262, 24563539, 25253781, 25457180, 27555605, 29456795, 29473431, 30885427		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Lymphoma, Small Cleaved-Cell, Follicular	Lymphoma	CTD_human_DG	24362818		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	29248547, 31322273		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	20946108, 23077658		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29285811, 30469511, 31562203		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	11298590, 23079660, 27052808, 27998273, 29113297, 31366503		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	27859460		★☆☆☆☆ Found in Text Mining only
Malignant Mesothelioma of Peritoneum	Peritoneal mesothelioma	BEFREE	30510965		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	22287205		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	14500907, 17018586, 17453341, 17786943, 19099573, 19340297, 19661437, 19709408, 19901851, 19934278, 19969553, 20306127, 20385124, 20952513, 21215703, 21241820, 21367748, 21406404, 21465172, 21499305, 21614565, 21828058, 21884980, 22211105, 22436627, 22527102, 22766277, 22986524, 22992977, 23251464, 23283488, 23539298, 23684884, 23688634, 23750239, 23981787, 24122997, 24344012, 24481780, 24516139, 24697523, 25264199, 25499219, 25998860, 26868841, 27113214, 27303043, 27436059, 27494834, 27502594, 27517917, 27716745, 27764181, 27830540, 28068325, 28253895, 28914785, 28925391, 29089464, 29113202, 29207119, 29351847, 29396474, 29669287, 29689244, 29790898, 29864144, 29925528, 29940916, 29959321, 30022044, 30048163, 30066891, 30121333, 30378143, 30578411, 30655550, 30760814, 30941654, 30952377, 30968962, 31004257, 31036541, 31140859, 31263101, 31282094, 31367244, 31424661, 31693439		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21903722		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	23792601, 25153722, 28088786, 28418882, 29805666, 31640461, 31843273		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	25400732, 25644061, 26631178, 26859127, 29916899, 31102664		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	27345740, 28624787, 30282996, 31174563		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	26859127		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	27879367		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	20444294, 22370893, 23562851, 29113254, 29152663		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15720799, 19901851, 20564407, 21539681, 21546573, 22112692, 23857401, 24132606, 24850841, 24928441, 25428391, 25629630, 25724377, 25746006, 25800736, 26676756, 26754405, 27312177, 27472460, 27587466, 28314309, 28322158, 28672805, 29156731, 29435024, 30223276, 30343006, 30487290, 30519315, 30555330, 31042721, 31081092, 31456359, 31666665, 31773700		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	21697275, 21989926, 28759046		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	23289480		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20668008, 20686362, 21205084, 21216927, 21614565, 23603558, 24755199, 24771265, 25077680, 25545504, 27563817, 27610467, 28620234, 28706445, 29434212, 29435063, 29575713, 29630768, 29669287, 29726819, 30166592, 31389610, 31737207		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20684863, 21765901, 21932133, 22108826, 22222375, 22391448, 23283488, 24079712, 26648239, 27644252, 28242758, 29286182, 29312501, 29389953, 30304920, 31213123, 31395079		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pharynx	Malignant Pharyngeal Neoplasm	BEFREE	24079712		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12374981, 12450788, 14500907, 15184867, 15684044, 16015586, 16575874, 17134822, 17252556, 17453341, 17502350, 18095286, 18159594, 18619895, 18637271, 19901851, 19934320, 20087897, 20478051, 20479932, 20622896, 20680031, 21788966, 21941025, 22505648, 22930729, 22952749, 23038103, 23190500, 23318417, 23636686, 23739676, 24032713, 24289559, 24499724, 24517338, 24714818, 24953652, 25017995, 25115393, 25115397, 25341040, 25535400, 25537508, 25605014, 25670862, 25833838, 26392259, 26501150, 26516927, 26573802, 26637281, 26657505, 26659825, 27000413, 27045473, 27562865, 27728805, 27807665, 27869166, 28059767, 28184935, 28490465, 28705714, 28795320, 28891793, 28899973, 29141691, 29699590, 29803673, 29805743, 29921838, 30135193, 30287808, 30394832, 30517868, 30587549, 30616239, 30621625, 30628724, 30651935, 30968962, 31085587, 31104332, 31115564, 31122254, 31189930, 31410199, 31636385, 31696466, 31790140, 31804971		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17003774, 17173048, 21903722		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	25969142, 28977801		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22228224, 22450781, 22675170, 23949225, 24658854, 24705718, 25595591, 25869101, 26799422, 27622325, 27938379, 28214253, 28569779, 28923852, 28970725, 29221147, 29335012, 29731896, 30031062, 30374835, 30464532, 30952377, 31219209, 31290116, 31497936, 31617275, 31646567		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	22399519, 28416772, 29275295, 31396854		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	24345883		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	16012774, 16215315, 16361539, 20148941, 21539681, 22766277, 23354591, 24490857, 25431950, 25501205, 26268246, 26517683, 26580594, 26939702, 27300769, 27630289, 27998761, 28223825, 28228601, 28515962, 28671703, 28968986, 29231261, 29445179, 30138427, 30397178, 31289569, 31383940		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14500907, 14532106, 16361539, 16575874, 17018586, 17545586, 17676662, 17694325, 18377425, 18393368, 18488029, 18619895, 18623083, 18723033, 18806826, 19008416, 19258506, 19340297, 19502792, 19860841, 19901851, 19904743, 19934278, 19934320, 19969553, 20081860, 20148941, 20631058, 20668008, 20946108, 21175789, 21241820, 21270667, 21289264, 21300475, 21367748, 21499305, 21512140, 21539681, 21629038, 21672285, 21685935, 21765901, 21840484, 21892211, 22108826, 22190405, 22211105, 22312437, 22505648, 22514714, 22552406, 22593192, 22622284, 22675170, 22766277, 22925699, 22992977, 23001607, 23077658, 23116973, 23159737, 23190500, 23228130, 23283488, 23291714, 23300840, 23486531, 23523787, 23529930, 23539298, 23636686, 23644490, 23684884, 23688634, 23735840, 23760684, 23792601, 23948956, 24047271, 24097338, 24132606, 24132643, 24212330, 24218139, 24261995, 24337160, 24339737, 24345883, 24367637, 24424512, 24469040, 24469045, 24526064, 24691023, 24705718, 25017995, 25025074, 25081869, 25111487, 25149548, 25152585, 25179367, 25264199, 25415657, 25477340, 25595591, 25614949, 25671303, 25686104, 25800664, 25854924, 25877750, 25890085, 25933431, 25969142, 25979827, 26027790, 26110843, 26268246, 26314854, 26411517, 26437366, 26472914, 26552009, 26553291, 26590165, 26648239, 26656176, 26676756, 26812882, 26845405, 26848027, 26868841, 26871294, 26936398, 26939702, 27109020, 27179746, 27191993, 27223261, 27239242, 27239797, 27253463, 27256159, 27278882, 27436059, 27502594, 27587466, 27630289, 27658528, 27716745, 27793053, 27807665, 27830540, 27879268, 27882937, 28147317, 28215221, 28292935, 28322158, 28362441, 28394193, 28415635, 28431938, 28490465, 28536141, 28561778, 28620234, 28665819, 28678185, 28858300, 28899973, 28925391, 28928088, 28967906, 28976794, 28978137, 28978636, 29046366, 29048549, 29069576, 29087303, 29113202, 29228694, 29275295, 29285251, 29286132, 29289837, 29344151, 29422082, 29435024, 29473431, 29489508, 29507419, 29576612, 29630768, 29669287, 29732557, 29748098, 29759640, 29805666, 29898397, 29941599, 29990499, 30066891, 30106089, 30112706, 30135193, 30258009, 30305602, 30374835, 30510924, 30519315, 30527357, 30612258, 30690451, 30715616, 30723117, 30737232, 30760814, 30844722, 30890554, 30891136, 30942459, 30971429, 30986382, 31023785, 31160593, 31205561, 31285428, 31289569, 31305292, 31366503, 31380279, 31410199, 31419226, 31424661, 31434700, 31468686, 31471312, 31551170, 31636385, 31693890, 31720078, 31752930, 31757187, 31773700, 31784651, 31810492, 31811272, 31819273, 31846764		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	24132643, 25890085, 28813519, 30722027, 30867289, 31023785		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	19047178, 21629038, 24018208, 24681730, 25007342, 27092879, 27697098, 28681918, 30344723, 31661141		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21765901, 23116973, 25535899, 25549357, 26452129, 26871294, 27634879, 28748258, 29654889, 30569799, 30716533, 31283006, 31317325		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21903722		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	14500907, 14965441, 16855786, 17018586, 18269588		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19340297, 21215703, 21672285, 21828058, 21892211, 22766277, 24344012, 24516139, 29035360, 29940916, 30760814, 31036541		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21903722		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21903722		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	11298590, 23079660, 27052808, 27998273, 29113297, 31366503, 31565482		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	23958953	Associate	★☆☆☆☆ Found in Text Mining only
Mediastinal (Thymic) Large B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	25275047		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	24813658		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	22287205, 22696229, 24264533, 28329683, 28536141, 28978137, 29108280, 29644394, 30632221, 31582835, 31676871		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	22287205, 30632221, 31582835, 35315927, 36635771, 36849558	Associate	★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	21383005		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	17640228, 17911618		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	17640228, 21569352, 22948084, 24079712, 26304929, 26621846, 26936398, 27095580, 29202777, 29990499, 32041674, 34288815, 35131084, 36220978, 36768289, 36858198	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22766277, 22948084, 24079712, 24912396, 25381824, 25609585, 25614949, 25671303, 26304929, 26364600, 26621846, 26936398, 27095580, 27105109, 27135738, 28746871, 29100322, 29196104, 29202777, 29286144, 29990499, 30008323, 30343006, 31693439		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	28195122	Stimulate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	32729292	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25350786		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29501388		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	28359267, 28739498, 30588655		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	27859460, 31534051		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	36195655	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	30510965	Stimulate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	33849532, 33922336, 34257556	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	30008323		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	12374981, 12450788, 14532106, 16963837, 18159594, 21501485, 23636686, 25341040, 28899973		★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	CTD_human_DG	26424790		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	28720764		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	30710891		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	30404791	Associate	★☆☆☆☆ Found in Text Mining only
Mixed Oligodendroglioma-Astrocytoma	Mixed Oligodendroglioma-Astrocytoma	BEFREE	21339190		★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy	Pubtator	21406404	Stimulate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	21697275, 21989926, 30903272, 36309370	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	16007202, 20634887, 25188243, 26517694, 26590165, 26755663, 27926488, 28052011, 28119431, 28322158, 28362441, 28490465, 28623912, 29045832, 29262596, 29743723, 29774113, 29970342, 30343511, 31551170, 31571328, 31606963		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	26755663, 28052011, 28362441, 29130642, 29687868, 30285865, 30942459, 31571328, 34455369, 36223594, 36747009, 37239949	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	39713879	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	25751747, 30367633, 31747802		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	20814569		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	24218139, 24903747		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	20601954, 21125401, 21881538, 22869879, 23099237, 23394086, 23645565, 23660859, 24218139, 24903747, 24953053, 25225797, 26508027, 26575690, 26812882, 26970171, 27694924, 28720764, 29127861, 29383137, 30608448, 30747066, 31093808, 31506740, 31711520, 31738830		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CTD_human_DG	20601954		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	21714648, 22869879, 24782121, 25225797, 25574665, 26508027, 26970171, 27527853, 27881874, 28626218, 29127861, 29417633, 30004110, 30222780, 30608448, 31208955, 31506740, 31680297, 31886200, 32380535, 33730109, 33845873, 34028801, 35504958, 36129843, 36601682, 37021526	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplastic-Myeloproliferative Diseases	Myelodysplastic-Myeloproliferative Diseases	CTD_human_DG	20601953		★☆☆☆☆ Found in Text Mining only
Myelodysplastic-Myeloproliferative Diseases	Myelodysplastic-Myeloproliferative Diseases	BEFREE	28626218		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	21921040		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	29438697		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	20838376, 24937675, 27070757, 27630126, 28599500, 29070525		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	27070757, 28394193, 30706327, 31189531		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	30004110	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative Syndrome Transient	Transient myeloproliferative disorder	Pubtator	23733339	Associate	★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	24056718		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29466371		★☆☆☆☆ Found in Text Mining only
Nasal Type Extranodal NK/T-Cell Lymphoma	Extranodal NK T Cell Lymphoma	BEFREE	30218753, 30935402		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	21199804, 21300475, 21368858, 21685935, 22972404, 23289480, 23677067, 23874688, 24739462, 25237831, 27040767, 27253463, 28360411, 29725411, 30353102, 31026422		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	21368858, 23289480, 23874688, 24739462, 30353102, 32373970, 33965547, 34906623, 35421264	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	23289480	Associate	★☆☆☆☆ Found in Text Mining only
Native American myopathy	Native american myopathy	Pubtator	34529278	Stimulate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	28738014	Associate	★☆☆☆☆ Found in Text Mining only
Nemaline myopathy 5	Nemaline myopathy	Pubtator	35813302	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14532106, 15077161, 16007202, 16012774, 16361539, 16575874, 17024127, 17237810, 17502350, 17541304, 17596871, 17694325, 18377425, 18393368, 18488029, 18619895, 18723033, 18806826, 19386347, 19502792, 19709408, 19860841, 19904743, 20087897, 20148941, 20444294, 20479932, 20564407, 20601954, 20631058, 20668008, 20684863, 20686362, 20920292, 20951942, 21115743, 21216927, 21241820, 21339190, 21367748, 21368858, 21521786, 21610323, 21629038, 21769904, 21837672, 21941025, 21989926, 22068036, 22094936, 22108826, 22161744, 22222375, 22287205, 22330138, 22370893, 22391448, 22436627, 22465358, 22505648, 22527102, 22552406, 22593192, 22622284, 22766277, 22867052, 22956625, 22986524, 23038103, 23075734, 23077658, 23110793, 23251464, 23300840, 23343715, 23343772, 23414300, 23677067, 23688634, 23707559, 23720055, 23750239, 23759596, 23792601, 23826380, 23874688, 23887863, 23948956, 23949225, 24005834, 24032713, 24097338, 24097870, 24132606, 24211739, 24212330, 24218139, 24292603, 24294976, 24345883, 24469045, 24563539, 24634383, 24691023, 24697523, 24798718, 24947179, 24966962, 25022553, 25025074, 25077680, 25130537, 25152585, 25190211, 25193989, 25226601, 25237831, 25262426, 25273528, 25289642, 25400745, 25402979, 25428391, 25428914, 25431950, 25431952, 25444902, 25472588, 25499219, 25505154, 25549357, 25601206, 25614949, 25625846, 25670862, 25671303, 25746006, 25877750, 25890085, 25923513, 25933431, 25955299, 25969142, 25998860, 26096306, 26162541, 26265454, 26304929, 26305882, 26364600, 26378043, 26392259, 26484567, 26503055, 26580594, 26590165, 26593398, 26621846, 26637281, 26676756, 26746204, 26799422, 26800240, 26812882, 26868841, 26871474, 26876615, 26936398, 26939702, 27000413, 27036023, 27050973, 27052808, 27060168, 27092879, 27113214, 27129219, 27207647, 27223261, 27239242, 27239797, 27282353, 27300769, 27312177, 27391784, 27419533, 27421653, 27424567, 27436059, 27440511, 27472460, 27494834, 27502594, 27555605, 27594424, 27634879, 27693633, 27705913, 27807891, 27830540, 27842164, 27869166, 27879367, 27992714, 27993893, 28052011, 28059767, 28088786, 28173837, 28228601, 28242758, 28263309, 28269750, 28320739, 28329683, 28359267, 28381186, 28415635, 28444909, 28490465, 28536141, 28539837, 28554757, 28561778, 28642877, 28665819, 28666925, 28678185, 28681918, 28720764, 28738014, 28739498, 28746871, 28775165, 28785086, 28795320, 28804564, 28835384, 28862715, 28878842, 28974397, 28976794, 28978137, 29035360, 29061511, 29087303, 29109980, 29132376, 29221202, 29242551, 29248547, 29285811, 29289837, 29290968, 29327713, 29360538, 29389953, 29394319, 29434212, 29435024, 29435063, 29473431, 29489508, 29530475, 29575713, 29576612, 29590609, 29615405, 29630768, 29653269, 29743723, 29759640, 29845708, 29888110, 29898397, 29906747, 29941599, 29955087, 30031020, 30066891, 30072740, 30080177, 30131250, 30138427, 30214616, 30232145, 30304920, 30343006, 30371509, 30394832, 30405850, 30425057, 30469511, 30542123, 30555330, 30655550, 30690451, 30692641, 30718359, 30737232, 30760814, 30785643, 30809307, 30890554, 30923826, 31036541, 31043675, 31043779, 31062382, 31085587, 31096221, 31171828, 31189531, 31205561, 31214915, 31289569, 31317325, 31368152, 31383940, 31419226, 31424661, 31516752, 31534051, 31545422, 31562203, 31636385, 31651209, 31704732, 31704972, 31720078, 31751560, 31752930, 31811854, 31843273		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	16287080, 26848979		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	31842983		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22068036, 24079712, 25505154, 28214660, 29202477, 29507419, 30051352, 31631027		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	24079712, 25435365, 29202477, 29507419, 29802153, 34016720, 34217898, 35467087, 35817829, 37762082, 37932047	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23526793		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	23568486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	29489508		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	28813519		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	28813519		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	28813519, 30867289, 37837931	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	33166403	Associate	★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	LHGDN	17640228		★☆☆☆☆ Found in Text Mining only
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	30371509		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	24351808		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20564407, 21270667, 21539681, 21837672, 22925699, 23300840, 23343715, 24097870, 24132606, 24745014, 24928441, 24967960, 25262426, 25994569, 26754405, 26908628, 27116120, 27312177, 27421653, 27472460, 27577075, 28314309, 28423732, 28554757, 28615992, 29061511, 29169732, 29616099, 29725441, 29803931, 30195769, 30210911, 30314898, 30487290, 30527357, 30612258, 30889481, 30967264, 31042721, 31396359, 31401873, 31456359, 31479715, 31646568, 31811854, 31819506		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	17018586, 23759596, 25998860		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	LHGDN	17018586		★☆☆☆☆ Found in Text Mining only
NUT midline carcinoma	Carcinoma	BEFREE	28426098		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29654753		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	28068325, 30022044, 30941654		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	21339190		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	26934322	Associate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	27793210, 28818106	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	28744016, 31409892	Associate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	31202798		★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	35617639	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29101351, 31833556		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	31347330		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	CTD_human_DG	14767549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	20127006, 26265454, 27019355, 27223261, 28388584, 28679390, 28902349, 31486480, 31651209, 32141531, 32633340, 32945076, 35264070, 35751755	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	24452597, 25190211, 26265454, 27019355, 27223261, 28388584, 28587390, 28679390, 28902349, 29254174, 29290771, 29859193, 30119259, 30420287, 31486480, 31651209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	20668008, 21614565		★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	26125128, 29416920, 31092221		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	36239569	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20686362, 21205084, 21216927, 23603558, 24755199, 24771265, 25077680, 25545504, 25686104, 27563817, 27610467, 28420874, 28620234, 28706445, 29434212, 29435063, 29575713, 29630768, 29669287, 29726819, 30166592, 30297712, 31389610, 31737207		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21205084	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24335192, 25025074, 25545504, 25955318, 27563817, 29575713, 29630768, 29693178, 30166592, 31016892, 31092221, 31389610, 31540229, 31704732, 32004442, 32049041, 32886452, 33230143, 33336896, 34140011, 37210576	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20684863, 21765901, 21932133, 22108826, 22222375, 22391448, 23283488, 24079712, 26648239, 27644252, 28242758, 28813705, 29286182, 29312501, 29389953, 30304920, 31213123, 31395079		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	22622284, 23395645, 24074410, 24798718, 27594424, 28188746		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	18980972		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	22108826		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18980972, 23272057, 23674382, 26848980, 27644252, 28813705, 30304920, 36053032, 37198697	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28242758	Stimulate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25867809, 30915752, 31718595		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	24035866, 24292603, 27071708		★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	24292603		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	22740705, 34054720, 36611251	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	24292603, 26876532		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26889637	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31476446		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	31579944		★☆☆☆☆ Found in Text Mining only
Peeling Skin Syndrome	Peeling skin syndrome	Pubtator	22869879	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	22512277		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	24501407	Inhibit	★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	31423206		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	31579944		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	36446780, 37453150	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	28720872		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	26593398, 28666925		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	26593398	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	27447873, 28688466, 29515238		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	27447873	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	22956625, 27169594, 30608448		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	26904942		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	22237151, 23015417, 26268310		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	CTD_human_DG	20601953		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	21921040, 27447873, 28948488, 29560522, 29907810		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12374981, 12450788, 14500907, 15184867, 15684044, 16015586, 16575874, 16963837, 17134822, 17252556, 17453341, 18095286, 18159594, 18406871, 18619895, 18637271, 19901851, 19934320, 20087897, 20478051, 20479932, 20622896, 20680031, 21788966, 21941025, 22505648, 22952749, 23038103, 23190500, 23318417, 23636686, 23739676, 24032713, 24289559, 24499724, 24517338, 24714818, 24953652, 25017995, 25115393, 25115397, 25341040, 25535400, 25537508, 25605014, 25670862, 25833838, 26392259, 26501150, 26516927, 26573802, 26637281, 26657505, 26659825, 27000413, 27045473, 27562865, 27728805, 27807665, 27869166, 28059767, 28184935, 28490465, 28705714, 28795320, 28891793, 28899973, 29141691, 29699590, 29803673, 29805743, 29921838, 30135193, 30287808, 30394832, 30517868, 30587549, 30616239, 30621625, 30628724, 30651935, 30968962, 31085587, 31104332, 31115564, 31122254, 31189930, 31410199, 31636385, 31696466, 31790140, 31804971		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	22588437	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12374981, 15817459, 16575874, 16963837, 17134822, 17237810, 18095286, 18159594, 18637271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	12374981, 15817459, 15856046, 16734726, 18159594, 18637271, 19567509, 19901851, 20087897, 20622896, 21521786, 22272343, 22442719, 22531786, 23739676, 24289559, 24499724, 24513574, 24517338, 24867541, 25378314, 25535400, 25537508, 26659825, 28042859, 28412973, 28832071, 29408056, 29699590, 30394832, 30616239, 30621625, 30622230, 31104332, 31636385, 31696466, 32343676, 32366400, 32595202, 32931739, 33174391, 33550923, 33899001, 33976366, 33985534, 34198380, 34489572, 34573332, 35094010, 36199157, 36300627, 36358967, 36519785, 36629431, 36884182, 37104249, 37475584, 37628609, 38238517, 39786309	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17003774, 17173048, 21903722		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	20087897, 22330138, 23038103, 27869166		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20478051, 23190500, 25341040	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22179855	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	21116854		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29854032		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31666665, 38114929	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	24406044, 27879367		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18623083, 22609199, 22992977, 24079759, 24406044, 25571919, 25600645, 25877750, 28978010, 28978636, 29286132, 30372389		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	18623083		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29775417		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	29227285		★☆☆☆☆ Found in Text Mining only
Reticulosarcoma	Reticulosarcoma	BEFREE	29327713		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	15077161, 17786943, 24807198, 25252918, 27842164		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	37311441	Stimulate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	23190500, 23620515, 24367611, 25415657, 28426098, 29528755		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	23190500, 37228094	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyoma	Rhabdomyoma	BEFREE	30120321		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	22983009, 24496329, 28722764, 30120321		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	30120321	Stimulate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	36941772, 37858275	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	30120321	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	21515604, 28138707, 31747802		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	22662197		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	26377323	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	22779686, 23110793, 31819273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	29415665, 32264965, 32302562, 39491746	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	35537449	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Clear Cell	Sarcoma	Pubtator	26848979	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	25435365, 25625846, 30879952	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	22593192	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	24501407	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	23110793, 27125524, 28738014	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma, Epithelioid	Sarcoma	BEFREE	23174932, 26396249, 31331120		★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	CTD_human_DG	26424790		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29501388		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	30755532		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	32041748	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	BEFREE	29760516		★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	29760516	Associate	★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	26043758		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	21926398, 26553291		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28405676, 31518916, 31830649		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	35795677	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	30373888	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	22932898, 28977801	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	18421308, 22961666, 22969115, 23714854, 23857401, 23967231, 25746006, 28069000, 28196592, 28196596, 28444909, 29762727, 29848731, 30232145, 30596070, 31367252		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	22961666, 23714854, 23857401, 23967231, 28196592, 32457468, 32761059, 34719665, 37395033	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	24079712	Stimulate	★☆☆☆☆ Found in Text Mining only
Sotos Syndrome	Sotos syndrome	Pubtator	23592277	Associate	★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	30373888	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	15720799, 18619895, 21532618, 23186778, 24097870, 24424512, 25472588, 25901533, 25969142, 27323178, 28387316, 28878842, 29344674, 31368152		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	19904743, 21165554, 22867052, 24631494, 25036033, 25644061, 26314854, 26631178, 28184915, 29250158, 29552776, 30215547, 31197517		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	21697275	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	21989926, 22161744, 25472588, 25762643, 27793210, 28878842, 30469511, 30970517, 32452220, 32626925, 32720035, 33758106, 34164962, 34519570, 36813772, 37244352, 37401236, 37619672, 38309675	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	27966775		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	29394319		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	21989926, 22361100, 23186778, 26378043, 29285811, 30469511, 31545422, 31562203		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	22161744, 25762643, 28804564		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	24351808		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22228224, 22450781, 22675170, 23949225, 24658854, 24705718, 25595591, 25869101, 26799422, 27622325, 27938379, 28214253, 28569779, 28923852, 28970725, 29221147, 29335012, 29731896, 30031062, 30374835, 30464532, 30952377, 31219209, 31290116, 31497936, 31617275, 31646567		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	36401232	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	16734726, 18377425, 18430739, 22675170, 22994729, 24738879, 26799422, 26871474, 27938379, 28214253, 28970725, 29335012, 29339121, 29489064, 31290116, 31646567, 32016968, 32096165, 32269290, 32373959, 34608273, 35802620, 35856444	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18377425, 18430739		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36401232	Stimulate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synostotic Anterior Plagiocephaly	Synostotic Anterior Plagiocephaly	CTD_human_DG	26424790		★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	CTD_human_DG	26424790		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	23110793, 27391784, 28085948, 28738014		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	30755532, 31747802		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	23529930, 23948956, 28412742, 31434700		★☆☆☆☆ Found in Text Mining only
T-Cell Prolymphocytic Leukemia	T-Cell Prolymphocytic Leukemia	BEFREE	24825865		★☆☆☆☆ Found in Text Mining only
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	17541304, 19258506		★☆☆☆☆ Found in Text Mining only
Testicular Hydrocele	Testicular Hydrocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	21546573	Stimulate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	27991718, 32732354	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	27447873, 28948488		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	30373888	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	Pubtator	21921040	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	26323637	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30915752, 31591432, 31766881	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	22399519, 28416772, 29275295, 31087496, 31396854		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	29275295, 31766881	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	22399519, 28416772, 29275295		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	26427660, 28416772, 29275295	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	31766881	Associate	★☆☆☆☆ Found in Text Mining only
Tic disorder	Tic Disorder	BEFREE	27764181		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	16215315, 16361539, 17541304, 31258770		★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	CTD_human_DG	26424790		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	20864510, 26162541, 30295334, 31519689, 31770532, 33246425, 34825659, 35228654, 35813302, 35846880, 36446780, 38171333, 39300407	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	22436627, 26162541, 27303043, 27764181, 28760736, 28928895, 29113202, 29636998, 29790898, 30121333, 30151890, 30563890, 30612216, 30809307, 31519689, 31704972, 31819273		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27113214	Stimulate	★☆☆☆☆ Found in Text Mining only
Upper Extremity Deformities, Congenital	Congenital anomaly of upper limb	CTD_human_DG	26424790		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	17694325, 21539681, 23815091, 25501205, 26517683, 27090213, 28060766, 30542123, 37530328, 37542643, 40550924	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22766277	Stimulate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	17694325, 28466784, 29748098, 30542123		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24018208, 25007342, 25275664, 27697098, 31273925, 31661141, 32141537, 32985327, 35505294, 40197384	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	26888970, 30120321		★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	31843273	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	17911618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal melanoma	Pubtator	31002139, 33721449, 39395714	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular disease	Pubtator	34493753	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	34597852	Associate	★☆☆☆☆ Found in Text Mining only
Weaver syndrome	Weaver Syndrome	BEFREE	22177091, 22190405, 24214728, 25787343, 26694085, 26762561, 27868325, 28229514, 28696078, 29244146, 29410511, 29681499, 30005706, 30019515, 30613354, 30793471, 31724824, 31736240		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Weaver syndrome	Weaver Syndrome	ORPHANET_DG	22177091, 24214728		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Weaver syndrome	Weaver Syndrome	UNIPROT_DG	22177091, 22190405, 23239504, 26694085, 28229514		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Weaver syndrome	Weaver syndrome	Pubtator	22177091, 22190405, 23592277, 24214728, 26694085, 29681499, 29802153, 30967505, 32243864	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Weaver syndrome	Weaver Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Weaver syndrome	Weaver Syndrome	GENOMICS_ENGLAND_DG	22190405		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Weaver syndrome	Weaver Syndrome	CLINVAR_DG	22190405, 24214728, 26380986, 26694085		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Weaver syndrome	Weaver Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	21339190		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	26655220	Associate	★☆☆☆☆ Found in Text Mining only
Wolf-Hirschhorn Syndrome	Wolf-Hirschhorn Syndrome	BEFREE	31092221		★☆☆☆☆ Found in Text Mining only