EP300 (EP300 lysine acetyltransferase)

Gene

• Entrez ID: 2033
• Gene name: EP300 lysine acetyltransferase
• Gene symbol: EP300
• Synonyms (NCBI Gene): KAT3B, MKHK2, RSTS2, p300
• Chromosome: 22
• Chromosome location: 22q13.2
• Summary: This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937578	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs137853038	C>T	Pathogenic	Coding sequence variant, stop gained
rs137853039	C>T	Pathogenic	Coding sequence variant, stop gained
rs139310551	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs147583157	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150498069	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant
rs368437789	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs528866215	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs533875300	GCA>-	Pathogenic, likely-benign, benign-likely-benign	Inframe deletion, coding sequence variant
rs565779970	T>A,C	Pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs587778256	CCAGTTCCAGCA>-	Pathogenic, likely-benign	Coding sequence variant, inframe indel
rs746398873	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs786205557	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs797045559	->T	Pathogenic	Frameshift variant, coding sequence variant
rs797045560	TCAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs875989807	CAGCAGCAACAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs876661318	TATACTCAGAATCCTGGA>-	Pathogenic	Inframe deletion, coding sequence variant
rs879253873	->C	Pathogenic	Frameshift variant, coding sequence variant
rs886037664	CTCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041520	G>T	Pathogenic	Splice acceptor variant
rs886041739	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs886041830	C>T	Pathogenic	Coding sequence variant, stop gained
rs886042977	GTAA>-	Likely-pathogenic	Splice donor variant, intron variant
rs886043598	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1057517732	T>G	Uncertain-significance, pathogenic, not-provided	Coding sequence variant, missense variant
rs1057518002	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519012	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057519375	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057519889	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057521737	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1064794624	->CCTATGTATATCTCCTATACATATCTCCTATCGAACA	Pathogenic	Frameshift variant, coding sequence variant
rs1064795607	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1064797038	C>T	Pathogenic	Coding sequence variant, stop gained
rs1085307564	ACCAACTG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1085307911	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1114167305	G>C	Pathogenic	Intron variant
rs1114167306	T>G	Pathogenic	Coding sequence variant, missense variant
rs1210404526	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1464734494	G>A,C	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs1555902247	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555905780	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555907278	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555907286	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1555907749	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555909666	G>T	Pathogenic	Coding sequence variant, stop gained
rs1555909697	AAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555910114	A>G	Pathogenic	Splice acceptor variant
rs1555910122	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555910482	AGAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555910602	TTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555910814	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555910821	A>G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs1555911075	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555911098	A>G	Likely-pathogenic	Splice acceptor variant
rs1555911201	->AC	Pathogenic	Coding sequence variant, frameshift variant
rs1555911313	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant, stop gained
rs1555911316	ACCCAA>-	Likely-pathogenic	Inframe indel, coding sequence variant
rs1555911334	G>T	Likely-pathogenic	Intron variant
rs1555911573	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555911580	AGAAAACGAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555912040	->ATGT	Pathogenic	Coding sequence variant, frameshift variant
rs1555912107	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555912238	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1555912362	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1569090642	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569107391	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1569108381	CACAGAAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569118537	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569120903	A>C	Pathogenic	Missense variant, coding sequence variant
rs1569120910	GGA>-	Pathogenic	Inframe deletion, coding sequence variant
rs1569122847	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601598122	C>T	Pathogenic	Coding sequence variant, stop gained
rs1601598354	TGAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601607265	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601610306	GCCAT>TATGTTGAGCCATAACTGCATGTTGAGCCCA	Pathogenic	Inframe indel, coding sequence variant, stop gained
rs1601613391	C>T	Pathogenic	Coding sequence variant, stop gained
rs1601617062	->A	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1601617065	A>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1601618876	TATGGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601621480	AGAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601621506	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1601623271	C>T	Pathogenic	Coding sequence variant, stop gained
rs1601624722	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601624754	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601624790	->A	Pathogenic	Coding sequence variant, stop gained
rs1601628237	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1601629319	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1601633128	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601633708	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1601634247	C>T	Pathogenic	Coding sequence variant, stop gained
rs1601636935	->T	Likely-pathogenic	Coding sequence variant, stop gained
rs1601639958	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1601640102	GGCCAAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601640325	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601640370	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1601641819	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1601642812	A>G	Pathogenic	Stop lost, terminator codon variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003604	hsa-miR-26b-5p	Microarray	19569050
MIRT003603	hsa-miR-194-5p	Microarray	19569050
MIRT004566	hsa-miR-374a-5p	Microarray	19569050
MIRT003601	hsa-miR-182-5p	Microarray	19569050
MIRT003600	hsa-miR-429	Microarray	19569050
MIRT003599	hsa-miR-200b-3p	Microarray	19569050
MIRT003598	hsa-miR-200c-3p	Microarray	19569050
MIRT007087	hsa-miR-150-5p	Luciferase reporter assay	23211718
MIRT007087	hsa-miR-150-5p	Luciferase reporter assay	23211718
MIRT021346	hsa-miR-9-5p	Microarray	17612493
MIRT051995	hsa-let-7b-5p	CLASH	23622248
MIRT051995	hsa-let-7b-5p	CLASH	23622248
MIRT050220	hsa-miR-25-3p	CLASH	23622248
MIRT049923	hsa-miR-30a-3p	CLASH	23622248
MIRT049743	hsa-miR-92a-3p	CLASH	23622248
MIRT047948	hsa-miR-30c-5p	CLASH	23622248
MIRT047254	hsa-miR-181b-5p	CLASH	23622248
MIRT047254	hsa-miR-181b-5p	CLASH	23622248
MIRT046334	hsa-miR-23b-3p	CLASH	23622248
MIRT045823	hsa-miR-140-5p	CLASH	23622248
MIRT045469	hsa-miR-149-5p	CLASH	23622248
MIRT041490	hsa-miR-193b-3p	CLASH	23622248
MIRT041181	hsa-miR-181d-5p	CLASH	23622248
MIRT039708	hsa-miR-615-3p	CLASH	23622248
MIRT038305	hsa-miR-130b-5p	CLASH	23622248
MIRT054244	hsa-miR-574-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23554959
MIRT609043	hsa-miR-1296-3p	HITS-CLIP	24906430
MIRT609041	hsa-miR-4481	HITS-CLIP	24906430
MIRT609042	hsa-miR-4745-5p	HITS-CLIP	24906430
MIRT609040	hsa-miR-6795-5p	HITS-CLIP	24906430
MIRT609039	hsa-miR-6887-5p	HITS-CLIP	24906430
MIRT609038	hsa-miR-328-5p	HITS-CLIP	24906430
MIRT609037	hsa-miR-6885-5p	HITS-CLIP	24906430
MIRT609036	hsa-miR-4447	HITS-CLIP	24906430
MIRT609035	hsa-miR-4472	HITS-CLIP	24906430
MIRT301685	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT609034	hsa-miR-1238-5p	HITS-CLIP	24906430
MIRT609033	hsa-miR-4758-5p	HITS-CLIP	24906430
MIRT609032	hsa-miR-7109-5p	HITS-CLIP	24906430
MIRT301684	hsa-miR-6818-5p	HITS-CLIP	24906430
MIRT609031	hsa-miR-4433b-3p	HITS-CLIP	24906430
MIRT609030	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT007087	hsa-miR-150-5p	Luciferase reporter assay, qRT-PCR, Western blot	27285761
MIRT007087	hsa-miR-150-5p	Luciferase reporter assay, qRT-PCR, Western blot	27285761
MIRT609034	hsa-miR-1238-5p	HITS-CLIP	27418678
MIRT609034	hsa-miR-1238-5p	HITS-CLIP	27418678
MIRT609034	hsa-miR-1238-5p	HITS-CLIP	27418678
MIRT609034	hsa-miR-1238-5p	HITS-CLIP	27418678
MIRT609043	hsa-miR-1296-3p	HITS-CLIP	27418678
MIRT609043	hsa-miR-1296-3p	HITS-CLIP	27418678
MIRT609043	hsa-miR-1296-3p	HITS-CLIP	27418678
MIRT609043	hsa-miR-1296-3p	HITS-CLIP	27418678
MIRT003604	hsa-miR-26b-5p	HITS-CLIP	27418678
MIRT003604	hsa-miR-26b-5p	HITS-CLIP	27418678
MIRT609038	hsa-miR-328-5p	HITS-CLIP	27418678
MIRT609038	hsa-miR-328-5p	HITS-CLIP	27418678
MIRT609038	hsa-miR-328-5p	HITS-CLIP	27418678
MIRT609038	hsa-miR-328-5p	HITS-CLIP	27418678
MIRT609031	hsa-miR-4433b-3p	HITS-CLIP	27418678
MIRT609031	hsa-miR-4433b-3p	HITS-CLIP	27418678
MIRT609031	hsa-miR-4433b-3p	HITS-CLIP	27418678
MIRT609031	hsa-miR-4433b-3p	HITS-CLIP	27418678
MIRT609036	hsa-miR-4447	HITS-CLIP	27418678
MIRT609036	hsa-miR-4447	HITS-CLIP	27418678
MIRT609036	hsa-miR-4447	HITS-CLIP	27418678
MIRT609036	hsa-miR-4447	HITS-CLIP	27418678
MIRT609035	hsa-miR-4472	HITS-CLIP	27418678
MIRT609035	hsa-miR-4472	HITS-CLIP	27418678
MIRT609035	hsa-miR-4472	HITS-CLIP	27418678
MIRT609035	hsa-miR-4472	HITS-CLIP	27418678
MIRT609041	hsa-miR-4481	HITS-CLIP	27418678
MIRT609041	hsa-miR-4481	HITS-CLIP	27418678
MIRT609041	hsa-miR-4481	HITS-CLIP	27418678
MIRT609041	hsa-miR-4481	HITS-CLIP	27418678
MIRT609042	hsa-miR-4745-5p	HITS-CLIP	27418678
MIRT609042	hsa-miR-4745-5p	HITS-CLIP	27418678
MIRT609042	hsa-miR-4745-5p	HITS-CLIP	27418678
MIRT609042	hsa-miR-4745-5p	HITS-CLIP	27418678
MIRT609033	hsa-miR-4758-5p	HITS-CLIP	27418678
MIRT609033	hsa-miR-4758-5p	HITS-CLIP	27418678
MIRT609033	hsa-miR-4758-5p	HITS-CLIP	27418678
MIRT609033	hsa-miR-4758-5p	HITS-CLIP	27418678
MIRT609030	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT609030	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT609030	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT609030	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT609030	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT609030	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT609040	hsa-miR-6795-5p	HITS-CLIP	27418678
MIRT609040	hsa-miR-6795-5p	HITS-CLIP	27418678
MIRT609040	hsa-miR-6795-5p	HITS-CLIP	27418678
MIRT609040	hsa-miR-6795-5p	HITS-CLIP	27418678
MIRT301684	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT301684	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT301684	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT301684	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT301685	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT301685	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT301685	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT301685	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT301685	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT301685	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT609037	hsa-miR-6885-5p	HITS-CLIP	27418678
MIRT609037	hsa-miR-6885-5p	HITS-CLIP	27418678
MIRT609037	hsa-miR-6885-5p	HITS-CLIP	27418678
MIRT609037	hsa-miR-6885-5p	HITS-CLIP	27418678
MIRT609039	hsa-miR-6887-5p	HITS-CLIP	27418678
MIRT609039	hsa-miR-6887-5p	HITS-CLIP	27418678
MIRT609039	hsa-miR-6887-5p	HITS-CLIP	27418678
MIRT609039	hsa-miR-6887-5p	HITS-CLIP	27418678
MIRT609032	hsa-miR-7109-5p	HITS-CLIP	27418678
MIRT609032	hsa-miR-7109-5p	HITS-CLIP	27418678
MIRT609032	hsa-miR-7109-5p	HITS-CLIP	27418678
MIRT609032	hsa-miR-7109-5p	HITS-CLIP	27418678
MIRT965021	hsa-miR-1224-3p	CLIP-seq
MIRT965022	hsa-miR-1245	CLIP-seq
MIRT965023	hsa-miR-1260	CLIP-seq
MIRT965024	hsa-miR-1260b	CLIP-seq
MIRT965025	hsa-miR-1271	CLIP-seq
MIRT965026	hsa-miR-1279	CLIP-seq
MIRT965027	hsa-miR-1280	CLIP-seq
MIRT965028	hsa-miR-1284	CLIP-seq
MIRT965029	hsa-miR-1299	CLIP-seq
MIRT965030	hsa-miR-132	CLIP-seq
MIRT965031	hsa-miR-148a	CLIP-seq
MIRT965032	hsa-miR-148b	CLIP-seq
MIRT965033	hsa-miR-150	CLIP-seq
MIRT965034	hsa-miR-152	CLIP-seq
MIRT965035	hsa-miR-182	CLIP-seq
MIRT965036	hsa-miR-1825	CLIP-seq
MIRT965037	hsa-miR-1912	CLIP-seq
MIRT965038	hsa-miR-1913	CLIP-seq
MIRT965039	hsa-miR-2116	CLIP-seq
MIRT965040	hsa-miR-212	CLIP-seq
MIRT965041	hsa-miR-217	CLIP-seq
MIRT965042	hsa-miR-22	CLIP-seq
MIRT965043	hsa-miR-2682	CLIP-seq
MIRT965044	hsa-miR-26a	CLIP-seq
MIRT965045	hsa-miR-26b	CLIP-seq
MIRT965046	hsa-miR-302f	CLIP-seq
MIRT965047	hsa-miR-3184	CLIP-seq
MIRT965048	hsa-miR-324-3p	CLIP-seq
MIRT965049	hsa-miR-337-5p	CLIP-seq
MIRT965050	hsa-miR-3613-3p	CLIP-seq
MIRT965051	hsa-miR-3647-3p	CLIP-seq
MIRT965052	hsa-miR-369-3p	CLIP-seq
MIRT965053	hsa-miR-3714	CLIP-seq
MIRT965054	hsa-miR-374a	CLIP-seq
MIRT965055	hsa-miR-374b	CLIP-seq
MIRT965056	hsa-miR-374c	CLIP-seq
MIRT965057	hsa-miR-377	CLIP-seq
MIRT965058	hsa-miR-3919	CLIP-seq
MIRT965059	hsa-miR-410	CLIP-seq
MIRT965060	hsa-miR-423-5p	CLIP-seq
MIRT965061	hsa-miR-4271	CLIP-seq
MIRT965062	hsa-miR-4277	CLIP-seq
MIRT965063	hsa-miR-4418	CLIP-seq
MIRT965064	hsa-miR-449c	CLIP-seq
MIRT965065	hsa-miR-450b-5p	CLIP-seq
MIRT965066	hsa-miR-4650-5p	CLIP-seq
MIRT965067	hsa-miR-4668-3p	CLIP-seq
MIRT965068	hsa-miR-4709-5p	CLIP-seq
MIRT965069	hsa-miR-4725-3p	CLIP-seq
MIRT965070	hsa-miR-4749-3p	CLIP-seq
MIRT965071	hsa-miR-4761-5p	CLIP-seq
MIRT965072	hsa-miR-4774-5p	CLIP-seq
MIRT965073	hsa-miR-4775	CLIP-seq
MIRT965074	hsa-miR-4782-5p	CLIP-seq
MIRT965075	hsa-miR-4796-5p	CLIP-seq
MIRT965076	hsa-miR-499-3p	CLIP-seq
MIRT965077	hsa-miR-499a-3p	CLIP-seq
MIRT965078	hsa-miR-507	CLIP-seq
MIRT965079	hsa-miR-509-3-5p	CLIP-seq
MIRT965080	hsa-miR-509-5p	CLIP-seq
MIRT965081	hsa-miR-511	CLIP-seq
MIRT965082	hsa-miR-516b	CLIP-seq
MIRT965083	hsa-miR-548a-3p	CLIP-seq
MIRT965084	hsa-miR-548ae	CLIP-seq
MIRT965085	hsa-miR-548aj	CLIP-seq
MIRT965086	hsa-miR-548am	CLIP-seq
MIRT965087	hsa-miR-548an	CLIP-seq
MIRT965088	hsa-miR-548e	CLIP-seq
MIRT965089	hsa-miR-548f	CLIP-seq
MIRT965090	hsa-miR-548x	CLIP-seq
MIRT965091	hsa-miR-557	CLIP-seq
MIRT965092	hsa-miR-582-3p	CLIP-seq
MIRT965093	hsa-miR-590-3p	CLIP-seq
MIRT965094	hsa-miR-624	CLIP-seq
MIRT965095	hsa-miR-640	CLIP-seq
MIRT965096	hsa-miR-655	CLIP-seq
MIRT965097	hsa-miR-885-3p	CLIP-seq
MIRT965098	hsa-miR-889	CLIP-seq
MIRT965099	hsa-miR-96	CLIP-seq
MIRT965022	hsa-miR-1245	CLIP-seq
MIRT965026	hsa-miR-1279	CLIP-seq
MIRT965028	hsa-miR-1284	CLIP-seq
MIRT965030	hsa-miR-132	CLIP-seq
MIRT965031	hsa-miR-148a	CLIP-seq
MIRT965032	hsa-miR-148b	CLIP-seq
MIRT965034	hsa-miR-152	CLIP-seq
MIRT965036	hsa-miR-1825	CLIP-seq
MIRT965040	hsa-miR-212	CLIP-seq
MIRT965056	hsa-miR-374c	CLIP-seq
MIRT965061	hsa-miR-4271	CLIP-seq
MIRT965066	hsa-miR-4650-5p	CLIP-seq
MIRT965068	hsa-miR-4709-5p	CLIP-seq
MIRT965069	hsa-miR-4725-3p	CLIP-seq
MIRT965073	hsa-miR-4775	CLIP-seq
MIRT965075	hsa-miR-4796-5p	CLIP-seq
MIRT965093	hsa-miR-590-3p	CLIP-seq
MIRT965095	hsa-miR-640	CLIP-seq
MIRT965096	hsa-miR-655	CLIP-seq
MIRT965098	hsa-miR-889	CLIP-seq
MIRT965022	hsa-miR-1245	CLIP-seq
MIRT965026	hsa-miR-1279	CLIP-seq
MIRT965028	hsa-miR-1284	CLIP-seq
MIRT965030	hsa-miR-132	CLIP-seq
MIRT965031	hsa-miR-148a	CLIP-seq
MIRT965032	hsa-miR-148b	CLIP-seq
MIRT965034	hsa-miR-152	CLIP-seq
MIRT965036	hsa-miR-1825	CLIP-seq
MIRT2220420	hsa-miR-200b	CLIP-seq
MIRT2220421	hsa-miR-200c	CLIP-seq
MIRT965039	hsa-miR-2116	CLIP-seq
MIRT965040	hsa-miR-212	CLIP-seq
MIRT965044	hsa-miR-26a	CLIP-seq
MIRT965045	hsa-miR-26b	CLIP-seq
MIRT2220422	hsa-miR-27a	CLIP-seq
MIRT2220423	hsa-miR-27b	CLIP-seq
MIRT965046	hsa-miR-302f	CLIP-seq
MIRT2220424	hsa-miR-3616-5p	CLIP-seq
MIRT965051	hsa-miR-3647-3p	CLIP-seq
MIRT2220425	hsa-miR-3647-5p	CLIP-seq
MIRT965053	hsa-miR-3714	CLIP-seq
MIRT965056	hsa-miR-374c	CLIP-seq
MIRT965062	hsa-miR-4277	CLIP-seq
MIRT2220426	hsa-miR-4494	CLIP-seq
MIRT2220427	hsa-miR-4635	CLIP-seq
MIRT965066	hsa-miR-4650-5p	CLIP-seq
MIRT2220428	hsa-miR-4666-5p	CLIP-seq
MIRT965067	hsa-miR-4668-3p	CLIP-seq
MIRT2220429	hsa-miR-4670-3p	CLIP-seq
MIRT2220430	hsa-miR-4684-5p	CLIP-seq
MIRT965068	hsa-miR-4709-5p	CLIP-seq
MIRT2220431	hsa-miR-4768-5p	CLIP-seq
MIRT965073	hsa-miR-4775	CLIP-seq
MIRT965075	hsa-miR-4796-5p	CLIP-seq
MIRT2220432	hsa-miR-499a-5p	CLIP-seq
MIRT2220433	hsa-miR-513a-5p	CLIP-seq
MIRT2220434	hsa-miR-573	CLIP-seq
MIRT965093	hsa-miR-590-3p	CLIP-seq
MIRT2220435	hsa-miR-600	CLIP-seq
MIRT965095	hsa-miR-640	CLIP-seq
MIRT965096	hsa-miR-655	CLIP-seq
MIRT2220436	hsa-miR-944	CLIP-seq
MIRT965022	hsa-miR-1245	CLIP-seq
MIRT965026	hsa-miR-1279	CLIP-seq
MIRT965028	hsa-miR-1284	CLIP-seq
MIRT965030	hsa-miR-132	CLIP-seq
MIRT965040	hsa-miR-212	CLIP-seq
MIRT965057	hsa-miR-377	CLIP-seq
MIRT965075	hsa-miR-4796-5p	CLIP-seq
MIRT965095	hsa-miR-640	CLIP-seq
MIRT965029	hsa-miR-1299	CLIP-seq
MIRT965047	hsa-miR-3184	CLIP-seq
MIRT965051	hsa-miR-3647-3p	CLIP-seq
MIRT965060	hsa-miR-423-5p	CLIP-seq
MIRT965061	hsa-miR-4271	CLIP-seq
MIRT2524244	hsa-miR-4282	CLIP-seq
MIRT965069	hsa-miR-4725-3p	CLIP-seq
MIRT965074	hsa-miR-4782-5p	CLIP-seq
MIRT965082	hsa-miR-516b	CLIP-seq
MIRT965087	hsa-miR-548an	CLIP-seq
MIRT965029	hsa-miR-1299	CLIP-seq
MIRT965043	hsa-miR-2682	CLIP-seq
MIRT965047	hsa-miR-3184	CLIP-seq
MIRT965051	hsa-miR-3647-3p	CLIP-seq
MIRT965053	hsa-miR-3714	CLIP-seq
MIRT965060	hsa-miR-423-5p	CLIP-seq
MIRT965061	hsa-miR-4271	CLIP-seq
MIRT2524244	hsa-miR-4282	CLIP-seq
MIRT965064	hsa-miR-449c	CLIP-seq
MIRT965069	hsa-miR-4725-3p	CLIP-seq
MIRT965074	hsa-miR-4782-5p	CLIP-seq
MIRT965082	hsa-miR-516b	CLIP-seq
MIRT965087	hsa-miR-548an	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AR	Activation	22334658
BRCA1	Activation	11782371
BRCA1	Unknown	11405179
CREBBP	Unknown	15154850
EGR1	Activation	18798221;20414733
EGR1	Unknown	15635605
FLI1	Unknown	24058639
MYC	Unknown	12776737
NUPR1	Unknown	22858377
PML	Activation	18809579

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IDA	28890335
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10733570
GO:0000123	Component	Histone acetyltransferase complex	IBA
GO:0000123	Component	Histone acetyltransferase complex	IEA
GO:0000785	Component	Chromatin	IDA	21084751
GO:0001221	Function	Transcription coregulator binding	IPI	8684459
GO:0001223	Function	Transcription coactivator binding	IEA
GO:0001223	Function	Transcription coactivator binding	IPI	11349124
GO:0001666	Process	Response to hypoxia	IDA	9887100, 15261140
GO:0001666	Process	Response to hypoxia	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001966	Process	Thigmotaxis	IEA
GO:0002039	Function	P53 binding	IEA
GO:0002209	Process	Behavioral defense response	IEA
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	IEA
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0003677	Function	DNA binding	IDA	9194565
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	24939902, 25818647
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	IMP	17641689
GO:0003684	Function	Damaged DNA binding	IDA	24939902
GO:0003684	Function	Damaged DNA binding	IEA
GO:0003712	Function	Transcription coregulator activity	IEA
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	10518217, 12435739, 12586840, 12609999, 12929931, 15261140, 16257975, 16687403, 17641689, 18487222
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	IMP	11349124, 11940591
GO:0003713	Function	Transcription coactivator activity	IPI	23811396
GO:0003713	Function	Transcription coactivator activity	TAS	10362258
GO:0004402	Function	Histone acetyltransferase activity	IBA
GO:0004402	Function	Histone acetyltransferase activity	IDA	12040021, 14645221, 25818647
GO:0004402	Function	Histone acetyltransferase activity	IEA
GO:0004402	Function	Histone acetyltransferase activity	TAS	10362258
GO:0004468	Function	L-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor	IDA	20019387
GO:0005515	Function	Protein binding	IDA	17150957, 26983400
GO:0005515	Function	Protein binding	IPI	1331501, 8684459, 9018065, 9194564, 9194565, 9811832, 9881977, 9887100, 10049825, 10330164, 10518217, 10702269, 10722728, 11029584, 11073990, 11430825, 11511361, 11581164, 11909954, 11940591, 11940655, 12368347, 12435739, 12527917, 12586840, 12743606, 12750254, 12929931, 14645221, 14
GO:0005634	Component	Nucleus	IDA	9194565, 12929931, 14645221, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	12929931
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	12929931
GO:0005829	Component	Cytosol	IDA
GO:0006094	Process	Gluconeogenesis	IDA	30193097
GO:0006096	Process	Glycolytic process	IDA	20847263
GO:0006110	Process	Regulation of glycolytic process	IDA	29775581
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006473	Process	Protein acetylation	IDA	21030595, 24939902
GO:0006475	Process	Internal protein amino acid acetylation	IDA	18722353
GO:0006915	Process	Apoptotic process	IMP	9194565
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	23811396
GO:0007249	Process	Canonical NF-kappaB signal transduction	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IDA	8272873
GO:0007399	Process	Nervous system development	TAS	10205054, 27256286
GO:0007507	Process	Heart development	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007611	Process	Learning or memory	IEA
GO:0007623	Process	Circadian rhythm	IEA
GO:0007623	Process	Circadian rhythm	ISS
GO:0008013	Function	Beta-catenin binding	IPI	12408825
GO:0008270	Function	Zinc ion binding	IEA
GO:0008610	Process	Lipid biosynthetic process	IDA	21084751
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0010484	Function	Histone H3 acetyltransferase activity	IDA	12609999, 27256286
GO:0010485	Function	Histone H4 acetyltransferase activity	IDA	10821277, 12609999
GO:0010485	Function	Histone H4 acetyltransferase activity	IMP	16325578
GO:0010506	Process	Regulation of autophagy	TAS	24852146
GO:0010507	Process	Negative regulation of autophagy	IDA	32561715
GO:0010507	Process	Negative regulation of autophagy	IDA	32561715
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010821	Process	Regulation of mitochondrion organization	IEA
GO:0010821	Process	Regulation of mitochondrion organization	ISS
GO:0010976	Process	Positive regulation of neuron projection development	IDA	27256286
GO:0016407	Function	Acetyltransferase activity	EXP	12456660, 16135789, 20228809
GO:0016407	Function	Acetyltransferase activity	IDA	18722353, 21084751, 23811396, 24939902
GO:0016407	Function	Acetyltransferase activity	IEA
GO:0016407	Function	Acetyltransferase activity	IMP	12435739
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IDA	17403783
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016922	Function	Nuclear receptor binding	IPI	9862959
GO:0018076	Process	N-terminal peptidyl-lysine acetylation	IDA	12435739
GO:0018393	Process	Internal peptidyl-lysine acetylation	IDA	17403783
GO:0030183	Process	B cell differentiation	IEA
GO:0030220	Process	Platelet formation	IEA
GO:0030324	Process	Lung development	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IMP	25514493
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IDA	23962722
GO:0031490	Function	Chromatin DNA binding	IBA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031648	Process	Protein destabilization	IEA
GO:0031648	Process	Protein destabilization	IMP	24939902
GO:0031669	Process	Cellular response to nutrient levels	IDA	32561715
GO:0031669	Process	Cellular response to nutrient levels	IDA	32561715
GO:0031669	Process	Cellular response to nutrient levels	IEA
GO:0032460	Process	Negative regulation of protein oligomerization	IMP	23962722
GO:0032991	Component	Protein-containing complex	IEA
GO:0032993	Component	Protein-DNA complex	ISS	10362258
GO:0034644	Process	Cellular response to UV	IDA	24939902
GO:0034644	Process	Cellular response to UV	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035855	Process	Megakaryocyte development	IEA
GO:0035987	Process	Endodermal cell differentiation	IDA	32895492
GO:0036268	Process	Swimming	IEA
GO:0038202	Process	TORC1 signaling	IDA	12087098, 12150926
GO:0038203	Process	TORC2 signaling	IDA	21343617, 29424687
GO:0042307	Process	Positive regulation of protein import into nucleus	IDA	24120661
GO:0042771	Process	Intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IDA	17403783
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	28147277
GO:0043627	Process	Response to estrogen	IDA	11581164
GO:0043923	Process	Host-mediated activation of viral transcription	IDA	16687403
GO:0043993	Function	Histone H3K18 acetyltransferase activity	IDA	21131905
GO:0043993	Function	Histone H3K18 acetyltransferase activity	IEA
GO:0044013	Function	Histone H2B acetyltransferase activity	IDA	10821277
GO:0044017	Function	Histone H3K27 acetyltransferase activity	IDA	21131905
GO:0044017	Function	Histone H3K27 acetyltransferase activity	IEA
GO:0044017	Function	Histone H3K27 acetyltransferase activity	IMP	32691935
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045721	Process	Negative regulation of gluconeogenesis	IDA	30193097
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	IDA	25818647, 27256286
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	15261140
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	TAS	27256286
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	22901803, 24120661, 32895492
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12586840, 15653507, 16285960, 18722353, 18782771, 21131905, 23811396
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	16325578, 32691935
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IDA	16257975
GO:0046872	Function	Metal ion binding	IEA
GO:0048156	Function	Tau protein binding	NAS	28386764
GO:0048511	Process	Rhythmic process	IEA
GO:0050681	Function	Nuclear androgen receptor binding	IPI	18487222
GO:0050821	Process	Protein stabilization	IEA
GO:0050821	Process	Protein stabilization	ISS
GO:0051059	Function	NF-kappaB binding	IPI	23811396
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IDA	25818647
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	9094314
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	12408825
GO:0060325	Process	Face morphogenesis	IEA
GO:0060765	Process	Regulation of androgen receptor signaling pathway	IDA	18487222
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	19071119, 20018936, 23329847
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IDA	15653507, 15919823, 16285960, 18782771, 22084251, 23962722, 24120661, 28262505, 30193097, 30197302, 32561715
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IEA
GO:0061733	Function	Protein-lysine-acetyltransferase activity	TAS
GO:0061920	Function	Protein propionyltransferase activity	IDA	17267393
GO:0061920	Function	Protein propionyltransferase activity	IEA
GO:0061921	Process	Peptidyl-lysine propionylation	IDA	17267393
GO:0071168	Process	Protein localization to chromatin	IDA	28262505
GO:0071233	Process	Cellular response to L-leucine	IDA	30197302, 32561715
GO:0072350	Process	Tricarboxylic acid metabolic process	IDA	30193097
GO:0072540	Process	T-helper 17 cell lineage commitment	TAS	27893700
GO:0090043	Process	Regulation of tubulin deacetylation	IDA	18722353
GO:0097157	Function	Pre-mRNA intronic binding	IEA
GO:0097677	Function	STAT family protein binding	IPI	26479788
GO:0106226	Function	Peptide 2-hydroxyisobutyryltransferase activity	IEA
GO:0120300	Function	Peptide lactyltransferase (CoA-dependent) activity	IEA
GO:0120301	Function	Histone lactyltransferase (CoA-dependent) activity	IDA	31645732
GO:0140033	Function	Acetylation-dependent protein binding	IDA	18782771
GO:0140064	Function	Peptide crotonyltransferase activity	IEA
GO:0140065	Function	Peptide butyryltransferase activity	IDA	17267393, 29775581
GO:0140065	Function	Peptide butyryltransferase activity	IEA
GO:0140066	Process	Peptidyl-lysine crotonylation	IDA	25818647
GO:0140067	Process	Peptidyl-lysine butyrylation	IDA	17267393, 29775581
GO:0140068	Function	Histone crotonyltransferase activity	IDA	25818647
GO:0140069	Function	Histone butyryltransferase activity	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	15261140, 15674325, 20590529
GO:0140566	Function	Histone reader activity	IDA	21131905
GO:0140908	Function	Histone H3K122 acetyltransferase activity	IDA	23415232
GO:1900034	Process	Regulation of cellular response to heat	IEA
GO:1900034	Process	Regulation of cellular response to heat	TAS
GO:1900182	Process	Positive regulation of protein localization to nucleus	IEA
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	30197302, 32561715
GO:1904515	Process	Positive regulation of TORC2 signaling	IDA	22084251
GO:2000330	Process	Positive regulation of T-helper 17 cell lineage commitment	IDA	28262505
GO:2000330	Process	Positive regulation of T-helper 17 cell lineage commitment	IDA	28262505

Other IDs

• MIM: 602700
• HGNC: 3373
• e!Ensembl: ENSG00000100393

Protein

• UniProt ID: Q09472
• Protein name: Histone acetyltransferase p300 (p300 HAT) (EC 2.3.1.48) (E1A-associated protein p300) (Histone butyryltransferase p300) (EC 2.3.1.-) (Histone crotonyltransferase p300) (EC 2.3.1.-) (Protein 2-hydroxyisobutyryltransferase p300) (EC 2.3.1.-) (Protein lactyl
• Protein function: Functions as a histone acetyltransferase and regulates transcription via chromatin remodeling (PubMed:23415232, PubMed:23934153, PubMed:8945521). Acetylates all four core histones in nucleosomes (PubMed:23415232, PubMed:23934153, PubMed:8945521)
• PDB: 1L3E, 1P4Q, 2K8F, 2MH0, 2MZD, 3BIY, 3I3J, 3IO2, 3P57, 3T92, 4BHW, 4PZR, 4PZS, 4PZT, 5BT3, 5KJ2, 5LKT, 5LKU, 5LKX, 5LKZ, 5LPK, 5LPM, 5NU5, 5XZC, 6DS6, 6FGN, 6FGS, 6GYR, 6GYT, 6K4N, 6PF1, 6PGU, 6V8B, 6V8K, 6V8N, 6V90, 7LJE, 7QGS, 7SS8, 7SSK, 7SZQ, 7UGI, 7VHY, 7VHZ, 7VI0, 7W9V, 7XEZ, 7XFG, 8E1D, 8FVF, 8GZC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02135	zf-TAZ	338 → 414	TAZ zinc finger	Family
  PF02172	KIX	566 → 646	KIX domain	Domain
  PF00439	Bromodomain	1058 → 1144	Bromodomain	Domain
  PF06001	DUF902	1156 → 1195	Domain of Unknown Function (DUF902)	Domain
  PF08214	HAT_KAT11	1306 → 1612	Histone acetylation protein	Domain
  PF00569	ZZ	1664 → 1705	Zinc finger, ZZ type	Domain
  PF02135	zf-TAZ	1735 → 1806	TAZ zinc finger	Family
  PF09030	Creb_binding	1990 → 2098	Creb binding	Domain

• Sequence:

  MAENVVEPGPPSAKRPKLSSPALSASASDGTDFGSLFDLEHDLPDELINSTELGLTNGGD
  INQLQTSLGMVQDAASKHKQLSELLRSGSSPNLNMGVGGPGQVMASQAQQSSPGLGLINS
  MVKSPMTQAGLTSPNMGMGTSGPNQGPTQSTGMMNSPVNQPAMGMNTGMNAGMNPGMLAA
  GNGQGIMPNQVMNGSIGAGRGRQNMQYPNPGMGSAGNLLTEPLQQGSPQMGGQTGLRGPQ
  PLKMGMMNNPNPYGSPYTQNPGQQIGASGLGLQIQTKTVLSNNLSPFAMDKKAVPGGGMP
  NMGQQPAPQVQQPGLVTPVAQGMGSGAHTADPEKRKLIQQQLVLLLHAHKCQRREQANGE
  VRQCNLPHCRTMKNVLNHMTHCQSGKSCQVAHCASSRQIISHWKNCTRHDCPVCLPLKNA
  GDKRNQQPILTGAPVGLGNPSSLGVGQQSAPNLSTVSQIDPSSIERAYAALGLPYQVNQM
  PTQPQVQAKNQQNQQPGQSPQGMRPMSNMSASPMGVNGGVGVQTPSLLSDSMLHSAINSQ
  NPMMSENASVPSLGPMPTAAQPSTTGIRKQWHEDITQDLRNHLVHKLVQAIFPTPDPAAL
  KDRRMENLVAYARKVEGDMYESANNRAEYYHLLAEKIYKIQKELEEKRRTRLQKQNMLPN
  AAGMVPVSMNPGPNMGQPQPGMTSNGPLPDPSMIRGSVPNQMMPRITPQSGLNQFGQMSM
  AQPPIVPRQTPPLQHHGQLAQPGALNPPMGYGPRMQQPSNQGQFLPQTQFPSQGMNVTNI
  PLAPSSGQAPVSQAQMSSSSCPVNSPIMPPGSQGSHIHCPQLPQPALHQNSPSPVPSRTP
  TPHHTPPSIGAQQPPATTIPAPVPTPPAMPPGPQSQALHPPPRQTPTPPTTQLPQQVQPS
  LPAAPSADQPQQQPRSQQSTAASVPTPTAPLLPPQPATPLSQPAVSIEGQVSNPPSTSST
  EVNSQAIAEKQPSQEVKMEAKMEVDQPEPADTQPEDISESKVEDCKMESTETEERSTELK
  TEIKEEEDQPSTSATQSSPAPGQSKKKIFKPEELRQALMPTLEALYRQDPESLPFRQPVD
  PQLLGIPDYFDIVKSPMDLSTIKRKLDTGQYQEPWQYVDDIWLMFNNAWLYNRKTSRVYK
  YCSKLSEVFEQEIDPVMQSLGYCCGRKLEFSPQTLCCYGKQLCTIPRDATYYSYQNRYHF
  CEKCFNEIQGESVSLGDDPSQPQTTINKEQFSKRKNDTLDPELFVECTECGRKMHQICVL
  HHEIIWPAGFVCDGCLKKSARTRKENKFSAKRLPSTRLGTFLENRVNDFLRRQNHPESGE
  VTVRVVHASDKTVEVKPGMKARFVDSGEMAESFPYRTKALFAFEEIDGVDLCFFGMHVQE
  YGSDCPPPNQRRVYISYLDSVHFFRPKCLRTAVYHEILIGYLEYVKKLGYTTGHIWACPP
  SEGDDYIFHCHPPDQKIPKPKRLQEWYKKMLDKAVSERIVHDYKDIFKQATEDRLTSAKE
  LPYFEGDFWPNVLEESIKELEQEEEERKREENTSNESTDVTKGDSKNAKKKNNKKTSKNK
  SSLSRGNKKKPGMPNVSNDLSQKLYATMEKHKEVFFVIRLIAGPAANSLPPIVDPDPLIP
  CDLMDGRDAFLTLARDKHLEFSSLRRAQWSTMCMLVELHTQSQDRFVYTCNECKHHVETR
  WHCTVCEDYDLCITCYNTKNHDHKMEKLGLGLDDESNNQQAAATQSPGDSRRLSIQRCIQ
  SLVHACQCRNANCSLPSCQKMKRVVQHTKGCKRKTNGGCPICKQLIALCCYHAKHCQENK
  CPVPFCLNIKQKLRQQQLQHRLQQAQMLRRRMASMQRTGVVGQQQGLPSPTPATPTTPTG
  QQPTTPQTPQPTSQPQPTPPNSMPPYLPRTQAAGPVSQGKAAGQVTPPTPPQTAQPPLPG
  PPPAAVEMAMQIQRAAETQRQMAHVQIFQRPIQHQMPPMTPMAPMGMNPPPMTRGPSGHL
  EPGMGPTGMQQQPPWSQGGLPQPQQLQSGMPRPAMMSVAQHGQPLNMAPQPGLGQVGISP
  LKPGTVSQQALQNLLRTLRSPSSPLQQQQVLSILHANPQLLAAFIKQRAAKYANSNPQPI
  PGQPGMPQGQPGLQPPTMPGQQGVHSNPAMQNMNPMQAGVQRAGLPQQQPQQQLQPPMGG
  MSPQAQQMNMNHNTMPSQFRDILRRQQMMQQQQQQGAGPGIGPGMANHNQFQQPQGVGYP
  PQQQQRMQHHMQQMQQGNMGQIGQLPQALGAEAGASLQAYQQRLLQQQMGSPVQPNPMSP
  QQHMLPNQAQSPHLQGQQIPNSLSNQVRSPQPVPSPRPQSQPPHSSPSPRMQPQPSPHHV
  SPQTSSPHPGLVAAQANPMEQGHFASPDQNSMLSQLASNPGMANLHGASATDLGLSTDNS
  DLNSNLSQSTLDIH

• Sequence length: 2414

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
Carcinoma of colon	Pathogenic	rs137853038, rs28937578	RCV000007283 RCV000007284	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Likely pathogenic; Pathogenic	rs2059103511	RCV005911374	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARGE syndrome	Likely pathogenic; Pathogenic	rs1555910114	RCV001034552	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs2145713819	RCV005935010	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Likely pathogenic; Pathogenic	rs886037664, rs2145762711, rs1057517732, rs2058974109	RCV002477332 RCV002249937 RCV002249938 RCV001222700	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal carcinoma	Pathogenic	rs1569118537, rs2058879988	RCV002245602 RCV002245878	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EP300-related disorder	Likely pathogenic; Pathogenic	rs2059103511, rs769721953, rs139310551, rs2145747771, rs2517821051, rs2145697142, rs2517806728, rs2517826886, rs2517832142, rs1057517732, rs1555910821	RCV005256819 RCV004741275 RCV004551377 RCV003399756 RCV003414091 RCV003416899 RCV003893708 RCV003894379 RCV003969644 RCV003401394 RCV003401414	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
intellectual deficiency	Likely pathogenic	rs1057519012	RCV000415048	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1555910821, rs2059176668	RCV001260706 RCV001260707	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Pathogenic	rs1555911574	RCV005931382	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Menke-Hennekam syndrome 2	Likely pathogenic; Pathogenic	rs886037664, rs797045560, rs2517801658, rs2145512909, rs2518115992, rs1569120903, rs1569120910, rs2059220693	RCV002477332 RCV005414323 RCV003326698 RCV003330153 RCV004586381 RCV000757970 RCV000757971 RCV001250421	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Likely pathogenic; Pathogenic	rs1057519012, rs2058919680	RCV000415048 RCV001252694	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple congenital anomalies	Likely pathogenic; Pathogenic	rs1057517732	RCV000509054	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs2517797752	RCV004673903	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs886037664, rs2145513922	RCV002273956 RCV002274337	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic intellectual disability	Likely pathogenic	rs2145766541	RCV001257015	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rubinstein-Taybi syndrome	Pathogenic	rs2059050320	RCV001195547	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic; Pathogenic	rs886037664, rs565779970, rs2059047949, rs1555910114, rs1601621506, rs1601628237, rs1601629319, rs1601636935, rs2059210417	RCV002477332 RCV000990451 RCV003127285 RCV000578180 RCV000856773 RCV000990453 RCV000990454 RCV000990456 RCV001261286	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Pathogenic; Likely pathogenic	rs2059021664, rs2145756375, rs2145697647, rs2145765098, rs2059103511, rs2145759333, rs1379274045, rs2145516079, rs2145736063, rs2145715677, rs2145519321, rs1340981566, rs2145754777, rs2145512052, rs886043598, rs886037664, rs2145512676, rs2145512343, rs2145734002, rs2145740556, rs769721953, rs2517797695, rs2517834553, rs2518115346, rs2145737748, rs2517815239, rs139310551, rs2145752629, rs2517833597, rs2517823890, rs2517826930, rs2145522089, rs797045559, rs797045560, rs2517831169, rs2517813357, rs2517833527, rs2517824372, rs137853038, rs137853039, rs1569108381, rs1569122847, rs1057519375, rs876661318, rs2145766457, rs2518141380, rs879253873, rs2517832657, rs886041830, rs1114167305, rs1114167306, rs1555912040, rs1555902247, rs2517834847, rs2517833741, rs2517817714, rs2059176610, rs1555911574, rs2517834474, rs2518141405, rs2518143785, rs2145713819, rs1354580969, rs2517833003, rs2518115992, rs2517824218, rs1057517732, rs1057521737, rs1555910821, rs1569090642, rs1555910602, rs1555911316, rs1555911313, rs1555909697, rs1555910482, rs1555909666, rs1555911075, rs1555912238, rs1555911334, rs1569118537, rs1601623271, rs1601633708, rs1601641819, rs1601639958, rs1601628237, rs1601617062, rs1601624790, rs1601598354, rs1601610306, rs1601613391, rs1601618876, rs1601624722, rs1601624754, rs1464734494, rs1601634247, rs1601640102, rs1601640370, rs1601642812, rs2058829252, rs1440862488, rs2059152743, rs2058879988, rs2058974109, rs2059154269, rs2059153923, rs2059050708, rs2059051273, rs953108559, rs2059211409	RCV001331931 RCV002550246 RCV002550279 RCV003104062 RCV002250763 RCV001775296 RCV001775377 RCV001775441 RCV002471160 RCV001787311 RCV001809083 RCV002548926 RCV003107871 RCV002560534 RCV002550364 RCV000125469 RCV002551640 RCV002561375 RCV002052097 RCV002251178 RCV002271904 RCV002283605 RCV002287601 RCV002287605 RCV002291118 RCV002302434 RCV000162342 RCV002465381 RCV003104223 RCV002810649 RCV002834718 RCV002871815 RCV000194142 RCV000193166 RCV002894592 RCV002957656 RCV003047471 RCV003048721 RCV001255736 RCV000007285 RCV000007286 RCV000007288 RCV000416791 RCV000223783 RCV003126402 RCV003153181 RCV000236044 RCV003219189 RCV000490768 RCV000490788 RCV000490787 RCV000490773 RCV000508685 RCV003313824 RCV003319567 RCV003336619 RCV003525771 RCV003526800 RCV003527458 RCV003639845 RCV003640142 RCV003838138 RCV003836958 RCV003985170 RCV004586381 RCV004595403 RCV000433095 RCV000454987 RCV000439427 RCV000023210 RCV000505193 RCV000505218 RCV000509055 RCV000576254 RCV003638681 RCV002530499 RCV005414523 RCV000677431 RCV000677692 RCV002245602 RCV000824847 RCV000825020 RCV000850393 RCV000850550 RCV002549746 RCV001002776 RCV001007889 RCV001027429 RCV001027430 RCV001027431 RCV001027432 RCV001027433 RCV001027434 RCV001027435 RCV001027436 RCV001027437 RCV001027438 RCV001027441 RCV002555869 RCV002552580 RCV001171509 RCV002245878 RCV001222700 RCV002564060 RCV002563143 RCV001251112 RCV001262415 RCV001269285 RCV001289467	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous cell carcinoma of the head and neck	Likely pathogenic; Pathogenic	rs2059103511	RCV005911373	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs1555911098	RCV005900083	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autosomal dominant cerebellar ataxia	Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, TRANSITIONAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corpus callosum, agenesis of	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 18	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Facial grimacing	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Feeding difficulties	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ 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; Conflicting classifications of pathogenicity; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multicystic kidney dysplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUBINSTEIN-TAYBI SYNDROME 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUBINSTEIN-TAYBI SYNDROME 2	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thumb deformity	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	15066326		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15066326, 15312679, 21493871, 27903646, 28378055		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	10824998		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	15066326		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	19569050		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27158780		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28299977		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21493871, 27903646		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	19948376, 21041953, 31669559		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	30104217		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agoraphobia	Agoraphobia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	27480489	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33083483, 38002954	Associate	★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	22334658	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	35274786	Stimulate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	35731275	Associate	★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	24839169		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	21470430, 29970661		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	26486927		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	26486927		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	26767057	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	26767057		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	33083483	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	34132777	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	29217191, 31178673	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	31565149	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	17125594	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	28973307		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	28973307	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Avascular necrosis of the capital femoral epiphysis	Avascular Necrosis Of The Capital Femoral Epiphysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	21232847, 21390126, 28551630, 31533053		★☆☆☆☆ Found in Text Mining only
Benign tumor of pancreas	Benign Tumor Of Pancreas	CGI_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	21822268		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21935574		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	15312679		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	31882850	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	16704985		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15217503, 28341962, 29305809, 30132219, 30314513, 30606771, 30862505, 31357743, 31603120, 31614656		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	26229107		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19047049, 22002538, 26229107, 28341962, 28887413, 30420728, 30597111, 30606771, 30867030, 33417085, 35732329, 36826464, 39192221, 39780215	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	30862505	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	26473533		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23408876, 24063517, 28939763, 30050056, 30910803, 30986748, 35247260	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15224194, 8622873		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21205329, 22459148, 33783990, 35504805, 36669583	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21935574		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28296173, 28794006		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	23696899, 35184402, 37696842	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23029358, 29506494, 29632619, 36311770, 36367018, 39362887	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	24551300	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	21822268, 36647005	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21056906		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	35173540	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37415103	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	38216991	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	30789376	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	34699043	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	21493871, 27903646		★☆☆☆☆ Found in Text Mining only
Chorioretinal dystrophy	Chorioretinal dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30263097		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	22177454		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28865152, 30868245		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34071322, 34314911	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	28751935	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28341962		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	28179590	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	17720775, 28341962, 36180906, 36246978	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15217503, 23759652, 28586030, 8622873		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG	26486927		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	14732695, 15123817, 17720775, 21209843, 23737956, 28068431, 30214631, 30446877, 32140074, 34572494, 35801925, 36434686, 36520636	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24948597	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of face	Facial dysmorphism	BEFREE	20014264		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital dislocation of radial head	Dislocated radial head	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	25388907, 29359884		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28551630, 29632619		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal neovascularization	Pubtator	27808477	Associate	★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	24352918		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	34565095	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	22936669		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	17927689	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	22287508, 36385105, 36797748, 40421630	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28886276		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28886276		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28886276	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19843526	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27121852, 28444663		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	38027201, 38374020	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28444663		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	19948376, 21041953, 21796119, 24529102, 26473533, 28725161, 28831000, 31519498, 31669559		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	31830774	Associate	★☆☆☆☆ Found in Text Mining only
Drug-Induced Stevens Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11331617, 12114483, 13983033, 15706485, 16428436, 17220215, 17299436, 18792986, 19353645, 20014264, 20717166, 24352918, 24476420, 25712426, 26279656, 26486927, 27465822, 27648933, 27964710		★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22876322		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG	23104009		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	14601091	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	14601091, 15806138, 22876322, 24042437	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	15806138		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG	23104009		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermodysplasia Verruciformis	Epidermodysplasia verruciformis	Pubtator	16912319	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	24959624	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	17965222, 28939763, 33725708, 35760875, 39748249	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	28853863	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	28004582	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	35266289	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21489305		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21489305, 33577785	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21489305		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25996283, 26972001, 27956703, 34784299, 36261421, 39780215	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Glomerulonephritis	Pubtator	17125594, 25026939	Stimulate	★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	35266289	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	37162176	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	35266289	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	25325435, 36834924	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	36834924	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	23899608	Associate	★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	35563689	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	36181115	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	12696060		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	30110629	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	15156177		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	26603525		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	16636310	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	35893033	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Pancreatitis	Pubtator	15217503	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	26879676	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29617040		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	33442921	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	11278891, 17699105, 20442290, 22402494, 31072398, 37816914, 8917528	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23756865	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30119248, 31110176		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	12767492, 25388907		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	26764183	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	29506490, 29883886, 37162176, 38553851	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Diseases	Kidney disease	Pubtator	17125594, 20199187	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	31929749	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	39780215	Associate	★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	29506490, 37162176	Associate	★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	27964710, 29506490	Associate	★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	HPO_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10700188, 24720539, 27428428, 29884215		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	22972988, 25928846, 28053092, 28425985, 29884215, 31735627, 33527899, 35768562, 36913305, 40421630	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	27428428	Stimulate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	22371884, 22923494, 26293203, 30637949, 33527899, 34663789, 37055414, 37505185, 9389684	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11243405, 15066326, 15312679, 22371884, 23390536, 9389684		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	29037125		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	29784880	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22459148, 22709982, 30723918		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28865152, 30868245		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23523631, 28296173, 28592245, 28754957, 34121659, 37060831, 38256128	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31223286	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	11238674	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	17125594	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	28299977		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30862505	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	19948376, 22177454, 30979734, 31519498		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	26731516	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	29884215, 33399078, 40421630	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	22585168, 34649275	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	31519498		★☆☆☆☆ Found in Text Mining only
Maffucci Syndrome	Maffucci Syndrome	BEFREE	26123062		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	CLINVAR_DG	29706646		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15217503, 28341962, 29305809, 30132219, 30314513, 30606771, 30862505, 31357743, 31603120, 31614656		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	26229107		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22876322		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28296173, 28794006		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	29037125		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12385008		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15217503		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26934656, 31097763		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	24648447		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	21822268		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21935574		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10700188, 12696060, 14732695, 16638127, 22709982, 23554959, 23698071, 23759652, 24063517, 25675181, 26503545, 28341962, 28893800, 29448139, 30119248, 30606771, 30862505, 31572557		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	26229107		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16704985		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	26229107		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	26229107		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23698071, 30910803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	23698071		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	23698071, 24098694, 24893747, 25000190, 25675294, 30657954, 30910803, 35294533, 35835335, 38030596	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental impairment	Mental Depression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	29506490	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mixed phenotype acute leukemia	Mixed Phenotype Leukemia	BEFREE	26293203		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	26980735, 29037125	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	11331617, 12114483, 13983033, 15706485, 16428436, 17220215, 17299436, 18792986, 19353645, 20014264, 20717166, 24352918, 24476420, 25712426, 26279656, 26486927, 27465822, 27648933, 27964710		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	25025381	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11331617, 12114483, 13983033, 15706485, 16428436, 17220215, 17299436, 18792986, 19353645, 20014264, 20717166, 24352918, 24476420, 25712426, 26279656, 26486927, 27465822, 27648933, 27964710		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	Pubtator	26731516, 27903272, 31536933, 35870987, 36121114, 38085608	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26867162, 30741931		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	31535023		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	25705681	Associate	★☆☆☆☆ Found in Text Mining only
Mycoplasma-Induced Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	15312679		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	34663789	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15312679		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	LHGDN	16461764		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	22177454		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	37085840	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	22647238, 32769887	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28588706		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10700188, 12385008, 12696060, 14732695, 15217503, 15224194, 20097195, 21212384, 23759652, 25154636, 28341962, 28551630, 29305809, 29359884, 29442054, 29454793, 29467311, 29632619, 30130555, 30943407, 31093971, 31632486, 8622873		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	30789376	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	34772733, 36708875	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21212384		★☆☆☆☆ Found in Text Mining only
NUT midline carcinoma	Carcinoma	BEFREE	28484033		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	26441656		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	32140068	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	GWASCAT_DG	30374069		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30426155, 31074088		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21056906	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27322077, 32655498, 35536676, 36932397, 37696842	Associate	★☆☆☆☆ Found in Text Mining only
Papillary cystadenoma of the epididymis	Papillary cystadenoma of the epididymis	HPO_DG			★☆☆☆☆ Found in Text Mining only
PARIETAL FORAMINA	Parietal Foramina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	28973307	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	37248406	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	35247260	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	25219830		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	15066326, 26293203		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	15066326, 27903646, 28378055		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26934656, 31097763		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15705864		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18459105, 18497079, 19164447, 22174411, 25125658, 26944191, 29970661, 30606771, 31097763, 31951590, 32203167, 32523042, 33495313, 33705753, 36871351, 37478850, 39780215	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	21878470	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34456628, 37373058, 39349929	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30119248		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	20014264, 24352918, 24839169		★☆☆☆☆ Found in Text Mining only
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	BEFREE	20014264, 24352918		★☆☆☆☆ Found in Text Mining only
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	BEFREE	15706485, 16021471, 17220215, 17299436, 17855048, 19353645, 19533794, 20014264, 20125191, 20717166, 24476420, 24839169, 25388907, 25599811, 25712426, 26171964, 26486927, 27648933, 27964710, 28523540, 29133209, 29359884, 29409755, 29460469, 29506490, 29883886, 29944992, 30635043, 30806792, 31491690, 31504229, 31566936		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	LHGDN	17220215, 17299436		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RUBINSTEIN-TAYBI SYNDROME 1	Rubinstein-Taybi Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUBINSTEIN-TAYBI SYNDROME 1	Rubinstein-Taybi Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUBINSTEIN-TAYBI SYNDROME 2	Rubinstein-Taybi Syndrome	CLINVAR_DG	15706485, 24352918, 25712426, 25741868, 26486927, 27648933, 29706646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUBINSTEIN-TAYBI SYNDROME 2	Rubinstein-Taybi Syndrome	GENOMICS_ENGLAND_DG	15706485		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUBINSTEIN-TAYBI SYNDROME 2	Rubinstein-Taybi Syndrome	BEFREE	29944992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Rubinstein-Taybi Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoidosis	Sarcoidosis	Pubtator	30946009	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	14550555, 39367409	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	32553609	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	26503545	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21513772, 28973307, 29905862, 31072398		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	21878470, 28973307, 31072398	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Systemic	Systemic sclerosis	Pubtator	31178673	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	CTD_human_DG	22941188		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	24551300	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Split hand foot deformity 1	Split hand foot deformity	BEFREE	29970661		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	27158780		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28794006		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	17965222, 24670651, 28165652, 30528923, 31632486		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	17965222, 25151357		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	11173543, 23179937, 23474763, 24789432, 25275298, 30933315, 31422218, 34563788, 36245368	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32523042	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	28794006		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CLINVAR_DG	26619011		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28939080		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Steatohepatitis	Fatty Liver	BEFREE	28853863		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15224194		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28169308, 35242497, 37415735	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	26503545		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	31178673		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	CTD_human_DG	26192917		★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	38002941	Associate	★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	35731275	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	19223551	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	34104084	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	30069928	Associate	★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	17942008, 25805166		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27491809, 30606771, 36782375, 36826464	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30132219, 30606771		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27699256, 31223286, 32012118, 36647005, 38273747, 40693457	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24390348	Associate	★☆☆☆☆ Found in Text Mining only
Vascular ring	Vascular ring	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	23899608		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only