CREBBP (CREB binding lysine acetyltransferase)

Gene

• Entrez ID: 1387
• Gene name: CREB binding lysine acetyltransferase
• Gene symbol: CREBBP
• Synonyms (NCBI Gene): CBP, KAT3A, MKHK1, RSTS, RSTS1
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11644721	C>A,T	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs28937315	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs61753381	G>T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121434624	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained, genic upstream transcript variant
rs121434625	G>A	Pathogenic	Coding sequence variant, stop gained
rs121434626	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs140406003	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs141651423	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs141775567	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs143247685	T>A,C	Likely-benign, benign, benign-likely-benign, pathogenic	Coding sequence variant, intron variant, missense variant
rs145988918	G>A,C	Likely-pathogenic	Coding sequence variant, intron variant, genic downstream transcript variant, missense variant
rs146049063	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs146168040	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, intron variant, synonymous variant
rs147688139	A>G,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, synonymous variant
rs149055008	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs149877180	G>A	Likely-pathogenic	Coding sequence variant, intron variant, genic downstream transcript variant, missense variant
rs199821421	G>A,T	Likely-pathogenic, likely-benign	Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant
rs200782888	C>G,T	Pathogenic	Splice donor variant
rs201062642	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs267606752	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs376814421	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs398124139	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs398124144	G>A	Pathogenic	Coding sequence variant, stop gained
rs398124145	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs398124146	G>A,C	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs398124147	G>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs398124150	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs546554430	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs587783460	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783461	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783463	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs587783464	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs587783465	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783467	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783469	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783470	AG>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs587783471	G>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs587783473	GA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs587783475	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs587783476	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs587783477	C>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs587783478	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs587783479	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783480	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs587783481	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587783482	C>A	Pathogenic	Stop gained, coding sequence variant
rs587783483	C>A,T	Pathogenic	Splice donor variant
rs587783484	T>C	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs587783485	C>A,T	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, intron variant
rs587783486	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs587783488	C>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs587783489	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs587783490	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs587783491	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs587783492	A>G	Likely-pathogenic	Missense variant, intron variant, genic downstream transcript variant, coding sequence variant
rs587783493	G>C,T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs587783494	T>C	Likely-pathogenic	Missense variant, intron variant, genic downstream transcript variant, coding sequence variant
rs587783495	A>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs587783496	T>C	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs587783497	T>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs587783499	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs587783500	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs587783502	GAG>-	Pathogenic-likely-pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs587783503	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs587783504	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs587783505	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs587783506	CGGGGGTGGGG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs587783507	G>-,GG	Likely-pathogenic, pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs587783508	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs587783509	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs587783510	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs587783511	CGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCA>-	Likely-pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs587783515	T>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs587783516	G>T	Pathogenic	Stop gained, coding sequence variant
rs748451307	A>C,G	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs760605470	A>C,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs763253161	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs778375586	G>A,C	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs778448390	C>G,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs786205495	A>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs794727124	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs794727391	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs797044860	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs797045037	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs797045483	->G	Pathogenic	Coding sequence variant, frameshift variant
rs797045484	TGCCCGGAAGAC>GG	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs797045485	->G	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs797045486	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs797045487	A>T	Pathogenic	Genic upstream transcript variant, missense variant, initiator codon variant
rs797045488	CTCCTTGCA>TT	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs797045489	G>A	Pathogenic	Coding sequence variant, stop gained
rs797045490	->A	Pathogenic	Coding sequence variant, frameshift variant
rs797045491	->AC	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs797045492	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs797045494	C>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs797045495	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs797045496	G>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs797045498	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs797045499	ACAGGCCTGG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs797045500	CTGCTGGTGCATGCCAGGCTGGG>-,CTGCTGGTGCATGCCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGG	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs797045502	->AA	Pathogenic	Coding sequence variant, frameshift variant
rs867556262	G>A,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs869312714	C>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs886039331	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs886039491	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs886041048	C>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant, intron variant
rs886041286	T>C	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs886041468	->T	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886041518	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs886041879	C>T	Pathogenic	Splice donor variant
rs1057518498	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518789	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057518844	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519207	G>A	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs1057519884	C>A,T	Likely-pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, missense variant
rs1057520072	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057520191	A>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1057520589	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1057520652	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057524802	A>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064794963	T>C,G	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064795050	A>G	Likely-pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, missense variant
rs1064795089	C>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064795628	T>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064795794	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064796056	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1064796457	A>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064796531	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064796948	G>T	Likely-pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, missense variant
rs1131691326	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1131691988	->AGCGCTG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1159294530	T>C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1302427305	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1354934373	G>A,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs1374436403	T>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1384496494	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1555470631	AAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGC	Likely-pathogenic	Inframe indel, terminator codon variant, stop lost, genic downstream transcript variant, 3 prime UTR variant
rs1555471077	G>C	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555471086	G>-	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555471098	GCTGGGTGAGA>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555471323	GTGTGCTGGG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555471336	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555471355	->AGGCGGTGCTGGATCTGCTGC	Likely-pathogenic	Inframe insertion, genic downstream transcript variant, coding sequence variant
rs1555471385	TTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCG>-	Likely-pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant
rs1555471394	G>A	Pathogenic-likely-pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs1555471813	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1555471874	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555472931	C>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555472938	CA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555473105	G>C	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555473122	CCT>-	Likely-pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant
rs1555473491	C>T	Pathogenic	Missense variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1555473499	A>G	Pathogenic	Missense variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1555473668	->A	Pathogenic	Frameshift variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1555473890	AGGGTGATTCTGGC>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555475250	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555475352	C>A,T	Pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant
rs1555476935	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555478331	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555481030	C>A	Pathogenic	Splice acceptor variant
rs1555483689	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1555483716	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555483834	C>A,T	Pathogenic	Splice donor variant
rs1555484797	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555496560	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1555496581	G>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555496732	A>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1567262537	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567262786	->C	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567263114	CT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567263168	C>T	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1567263529	C>T	Likely-pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs1567263724	T>C	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1567265131	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1567265203	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1567269316	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567269945	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1567272940	A>C,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1567276741	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567277287	T>A	Pathogenic	Downstream transcript variant, genic downstream transcript variant, splice acceptor variant
rs1567306142	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1567309482	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567316655	CA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567318022	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1567331357	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1567386034	TGTGCTGTCATTCGCCGAGAAACCGGGCGAGCTGAGTTTGGCTCTTTTGGGGTTGGGCGGTCCGTCCAGCAAGTTCTCAGCCATTTTCACCTGCTCGCGAAAACAGCCCCGGGCACGGGCGGCCGGGCCGGCGAGGGCCCGGACGGGGGTCGGGGGCCCTGCCGGCTGCGAGGGAGAGGAGCGAGCGCGGGCCGCGAGCGGGCGGGCGGGCGCCGAGGGAGAGGGAGGGCGCAGGCCGGGTGGGGGAGGCGGCGG	Pathogenic	Initiator codon variant, frameshift variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1596783639	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1596784310	CGACTTCAGG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596784713	CTGCATGGATATCACAGGCCTGGGC>-,CTGCATGGATATCACAGGCCTGGGCCTGCATGGATATCACAGGCCTGGGC	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596785514	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596786167	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596786219	->C	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596786512	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596786752	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596787459	TAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant, genic downstream transcript variant
rs1596788162	G>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1596791996	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1596793242	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1596803811	A>-	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1596804073	->ACA	Pathogenic	Inframe insertion, coding sequence variant, genic downstream transcript variant
rs1596804126	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1596805575	T>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1596805792	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1596805807	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596805927	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1596810419	C>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs1596810435	A>G	Likely-pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs1596810465	G>T	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1596812202	G>A	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1596812256	A>-	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596812290	C>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs1596812306	G>A	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1596813570	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596813665	C>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1596823180	T>A	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs1596834998	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596839714	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1596839727	CACTTCTCACAGA>TGATACCTGTCAGCAAGATCACAG	Pathogenic	Coding sequence variant, frameshift variant
rs1596852443	AATGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596852463	GG>TACCAT	Pathogenic	Coding sequence variant, frameshift variant
rs1596852578	G>A	Pathogenic	Coding sequence variant, stop gained
rs1596852670	C>G	Pathogenic	Splice acceptor variant
rs1596852674	T>C	Pathogenic	Splice acceptor variant
rs1596853925	ACAGGGTCAATTTCCTGCTCAAAGACCTCTGCAAGCTTACTGCAAAACTTATAGACTCGGGATGTCTTGCGATTATAGAGC>-	Likely-pathogenic	Inframe indel, coding sequence variant
rs1596854023	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1596854369	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596856176	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1596856285	AAAGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596856390	G>-	Pathogenic	Coding sequence variant, stop gained
rs1596878700	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1596878921	T>A	Pathogenic	Coding sequence variant, stop gained
rs1596882004	C>A	Pathogenic	Splice donor variant
rs1596882010	C>A	Pathogenic	Coding sequence variant, stop gained
rs1596882124	->TC	Pathogenic	Coding sequence variant, frameshift variant
rs1596882629	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1596885651	->GGGCGTGCAC	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1596885894	CC>A	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1596886048	->C	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1596886132	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs1596886183	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs1596886295	ACTGAGC>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1596894889	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1596895500	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596895545	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596897799	C>A	Pathogenic	Splice acceptor variant
rs1596908213	CG>A	Pathogenic	Coding sequence variant, stop gained
rs1596909656	A>G	Pathogenic	Splice donor variant
rs1596909791	CCACTT>-	Pathogenic	Inframe deletion, coding sequence variant
rs1596909915	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1596910004	C>T	Pathogenic	Splice acceptor variant
rs1596916327	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596917200	G>C	Pathogenic	Coding sequence variant, stop gained
rs1596920360	C>T	Pathogenic	Splice donor variant
rs1596920501	G>A	Pathogenic	Coding sequence variant, stop gained
rs1596920745	G>A	Pathogenic	Coding sequence variant, stop gained
rs1596944340	CACAATG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1596947522	A>T	Pathogenic	Splice donor variant
rs1596947732	->TC	Pathogenic	Coding sequence variant, frameshift variant
rs1596947743	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596948052	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596948165	C>A	Pathogenic	Coding sequence variant, stop gained
rs1596984633	->ATATTTGG	Pathogenic	Coding sequence variant, frameshift variant
rs1597053322	GCATGGCTGGAGTAGGGTACGGCATTCCAGCTCCCCT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1597053504	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1597053795	ACGTGGCAGGGCTG>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1597054242	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1597054430	CC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1597054662	->TA	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1597054837	TGGAACAAGGTTC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1597099388	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004683	hsa-miR-324-3p	Luciferase reporter assay	19478946
MIRT051673	hsa-let-7e-5p	CLASH	23622248
MIRT048558	hsa-miR-100-5p	CLASH	23622248
MIRT045961	hsa-miR-125b-5p	CLASH	23622248
MIRT039168	hsa-miR-769-5p	CLASH	23622248
MIRT036676	hsa-miR-935	CLASH	23622248
MIRT035967	hsa-miR-1301-3p	CLASH	23622248
MIRT641523	hsa-miR-4328	HITS-CLIP	23824327
MIRT641522	hsa-miR-5193	HITS-CLIP	23824327
MIRT641521	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT641520	hsa-miR-3183	HITS-CLIP	23824327
MIRT641519	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT641518	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT641517	hsa-miR-4797-3p	HITS-CLIP	23824327
MIRT641516	hsa-miR-4264	HITS-CLIP	23824327
MIRT641515	hsa-miR-4641	HITS-CLIP	23824327
MIRT641514	hsa-miR-4268	HITS-CLIP	23824327
MIRT548745	hsa-miR-219a-1-3p	PAR-CLIP	21572407
MIRT548744	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT548743	hsa-miR-4517	PAR-CLIP	21572407
MIRT548742	hsa-miR-338-5p	PAR-CLIP	21572407
MIRT548741	hsa-miR-6512-5p	PAR-CLIP	21572407
MIRT548740	hsa-miR-5680	PAR-CLIP	21572407
MIRT548739	hsa-miR-571	PAR-CLIP	21572407
MIRT548738	hsa-miR-5681b	PAR-CLIP	21572407
MIRT548737	hsa-miR-302c-5p	PAR-CLIP	21572407
MIRT548736	hsa-miR-2681-5p	PAR-CLIP	21572407
MIRT343552	hsa-miR-543	PAR-CLIP	24398324
MIRT500155	hsa-miR-5586-3p	PAR-CLIP	24398324
MIRT500156	hsa-miR-802	PAR-CLIP	24398324
MIRT500154	hsa-miR-1245a	PAR-CLIP	24398324
MIRT500153	hsa-miR-8079	PAR-CLIP	24398324
MIRT500152	hsa-miR-6729-3p	PAR-CLIP	24398324
MIRT500151	hsa-miR-628-3p	PAR-CLIP	24398324
MIRT500150	hsa-miR-325	PAR-CLIP	24398324
MIRT500149	hsa-miR-517-5p	PAR-CLIP	24398324
MIRT500148	hsa-miR-1251-5p	PAR-CLIP	24398324
MIRT500147	hsa-miR-942-5p	PAR-CLIP	24398324
MIRT500146	hsa-miR-4765	PAR-CLIP	24398324
MIRT500145	hsa-miR-601	PAR-CLIP	24398324
MIRT500144	hsa-miR-3143	PAR-CLIP	24398324
MIRT500143	hsa-miR-4684-5p	PAR-CLIP	24398324
MIRT447721	hsa-miR-6507-3p	PAR-CLIP	22100165
MIRT447720	hsa-miR-1264	PAR-CLIP	22100165
MIRT447719	hsa-miR-33a-3p	PAR-CLIP	22100165
MIRT369299	hsa-miR-4635	PAR-CLIP	22100165
MIRT447721	hsa-miR-6507-3p	PAR-CLIP	22100165
MIRT447720	hsa-miR-1264	PAR-CLIP	22100165
MIRT447719	hsa-miR-33a-3p	PAR-CLIP	22100165
MIRT369299	hsa-miR-4635	PAR-CLIP	22100165
MIRT440879	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440879	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT641523	hsa-miR-4328	HITS-CLIP	23824327
MIRT641522	hsa-miR-5193	HITS-CLIP	23824327
MIRT641521	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT641520	hsa-miR-3183	HITS-CLIP	23824327
MIRT641519	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT641518	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT641517	hsa-miR-4797-3p	HITS-CLIP	23824327
MIRT641516	hsa-miR-4264	HITS-CLIP	23824327
MIRT641515	hsa-miR-4641	HITS-CLIP	23824327
MIRT641514	hsa-miR-4268	HITS-CLIP	23824327
MIRT548745	hsa-miR-219a-1-3p	PAR-CLIP	21572407
MIRT548744	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT548743	hsa-miR-4517	PAR-CLIP	21572407
MIRT548742	hsa-miR-338-5p	PAR-CLIP	21572407
MIRT548741	hsa-miR-6512-5p	PAR-CLIP	21572407
MIRT548740	hsa-miR-5680	PAR-CLIP	21572407
MIRT548739	hsa-miR-571	PAR-CLIP	21572407
MIRT548738	hsa-miR-5681b	PAR-CLIP	21572407
MIRT548737	hsa-miR-302c-5p	PAR-CLIP	21572407
MIRT548736	hsa-miR-2681-5p	PAR-CLIP	21572407
MIRT343552	hsa-miR-543	PAR-CLIP	24398324
MIRT500155	hsa-miR-5586-3p	PAR-CLIP	24398324
MIRT500156	hsa-miR-802	PAR-CLIP	24398324
MIRT500154	hsa-miR-1245a	PAR-CLIP	24398324
MIRT500153	hsa-miR-8079	PAR-CLIP	24398324
MIRT500152	hsa-miR-6729-3p	PAR-CLIP	24398324
MIRT500151	hsa-miR-628-3p	PAR-CLIP	24398324
MIRT500150	hsa-miR-325	PAR-CLIP	24398324
MIRT500149	hsa-miR-517-5p	PAR-CLIP	24398324
MIRT500148	hsa-miR-1251-5p	PAR-CLIP	24398324
MIRT500147	hsa-miR-942-5p	PAR-CLIP	24398324
MIRT500146	hsa-miR-4765	PAR-CLIP	24398324
MIRT500145	hsa-miR-601	PAR-CLIP	24398324
MIRT500144	hsa-miR-3143	PAR-CLIP	24398324
MIRT500143	hsa-miR-4684-5p	PAR-CLIP	24398324
MIRT447721	hsa-miR-6507-3p	PAR-CLIP	22100165
MIRT447720	hsa-miR-1264	PAR-CLIP	22100165
MIRT447719	hsa-miR-33a-3p	PAR-CLIP	22100165
MIRT369299	hsa-miR-4635	PAR-CLIP	22100165
MIRT447721	hsa-miR-6507-3p	PAR-CLIP	22100165
MIRT447720	hsa-miR-1264	PAR-CLIP	22100165
MIRT447719	hsa-miR-33a-3p	PAR-CLIP	22100165
MIRT369299	hsa-miR-4635	PAR-CLIP	22100165
MIRT909030	hsa-miR-1238	CLIP-seq
MIRT909031	hsa-miR-1293	CLIP-seq
MIRT909032	hsa-miR-139-3p	CLIP-seq
MIRT909033	hsa-miR-200b	CLIP-seq
MIRT909034	hsa-miR-200c	CLIP-seq
MIRT909035	hsa-miR-2117	CLIP-seq
MIRT909036	hsa-miR-23a	CLIP-seq
MIRT909037	hsa-miR-23b	CLIP-seq
MIRT909038	hsa-miR-23c	CLIP-seq
MIRT909039	hsa-miR-3192	CLIP-seq
MIRT909040	hsa-miR-323-3p	CLIP-seq
MIRT909041	hsa-miR-326	CLIP-seq
MIRT909042	hsa-miR-330-3p	CLIP-seq
MIRT909043	hsa-miR-330-5p	CLIP-seq
MIRT909044	hsa-miR-337-3p	CLIP-seq
MIRT909045	hsa-miR-33a	CLIP-seq
MIRT909046	hsa-miR-33b	CLIP-seq
MIRT909047	hsa-miR-340	CLIP-seq
MIRT909048	hsa-miR-3529	CLIP-seq
MIRT909049	hsa-miR-3591-3p	CLIP-seq
MIRT909050	hsa-miR-361-5p	CLIP-seq
MIRT909051	hsa-miR-379	CLIP-seq
MIRT909052	hsa-miR-3919	CLIP-seq
MIRT909053	hsa-miR-4271	CLIP-seq
MIRT909054	hsa-miR-429	CLIP-seq
MIRT909055	hsa-miR-4327	CLIP-seq
MIRT909056	hsa-miR-4444	CLIP-seq
MIRT909057	hsa-miR-4451	CLIP-seq
MIRT909058	hsa-miR-4483	CLIP-seq
MIRT909059	hsa-miR-4528	CLIP-seq
MIRT909060	hsa-miR-4536	CLIP-seq
MIRT909061	hsa-miR-4650-3p	CLIP-seq
MIRT909062	hsa-miR-4651	CLIP-seq
MIRT909063	hsa-miR-4668-5p	CLIP-seq
MIRT909064	hsa-miR-4685-5p	CLIP-seq
MIRT909065	hsa-miR-4719	CLIP-seq
MIRT909066	hsa-miR-4725-3p	CLIP-seq
MIRT909067	hsa-miR-4731-5p	CLIP-seq
MIRT909068	hsa-miR-4756-3p	CLIP-seq
MIRT909069	hsa-miR-4795-3p	CLIP-seq
MIRT909070	hsa-miR-488	CLIP-seq
MIRT909071	hsa-miR-494	CLIP-seq
MIRT909072	hsa-miR-499-3p	CLIP-seq
MIRT909073	hsa-miR-499a-3p	CLIP-seq
MIRT909074	hsa-miR-516a-5p	CLIP-seq
MIRT909075	hsa-miR-548c-3p	CLIP-seq
MIRT909076	hsa-miR-608	CLIP-seq
MIRT909077	hsa-miR-625	CLIP-seq
MIRT909078	hsa-miR-637	CLIP-seq
MIRT909079	hsa-miR-873	CLIP-seq
MIRT909080	hsa-miR-942	CLIP-seq
MIRT909081	hsa-miR-1197	CLIP-seq
MIRT909030	hsa-miR-1238	CLIP-seq
MIRT909082	hsa-miR-1245	CLIP-seq
MIRT909083	hsa-miR-129-5p	CLIP-seq
MIRT909032	hsa-miR-139-3p	CLIP-seq
MIRT909033	hsa-miR-200b	CLIP-seq
MIRT909034	hsa-miR-200c	CLIP-seq
MIRT909084	hsa-miR-2964a-3p	CLIP-seq
MIRT909085	hsa-miR-302f	CLIP-seq
MIRT909086	hsa-miR-3140-3p	CLIP-seq
MIRT909039	hsa-miR-3192	CLIP-seq
MIRT909087	hsa-miR-323-5p	CLIP-seq
MIRT909044	hsa-miR-337-3p	CLIP-seq
MIRT909045	hsa-miR-33a	CLIP-seq
MIRT909046	hsa-miR-33b	CLIP-seq
MIRT909088	hsa-miR-3653	CLIP-seq
MIRT909089	hsa-miR-3658	CLIP-seq
MIRT909090	hsa-miR-3689d	CLIP-seq
MIRT909091	hsa-miR-4277	CLIP-seq
MIRT909092	hsa-miR-4286	CLIP-seq
MIRT909054	hsa-miR-429	CLIP-seq
MIRT909093	hsa-miR-4323	CLIP-seq
MIRT909055	hsa-miR-4327	CLIP-seq
MIRT909094	hsa-miR-4452	CLIP-seq
MIRT909095	hsa-miR-4511	CLIP-seq
MIRT909059	hsa-miR-4528	CLIP-seq
MIRT909096	hsa-miR-4643	CLIP-seq
MIRT909064	hsa-miR-4685-5p	CLIP-seq
MIRT909097	hsa-miR-4704-5p	CLIP-seq
MIRT909098	hsa-miR-4717-3p	CLIP-seq
MIRT909099	hsa-miR-4758-3p	CLIP-seq
MIRT909100	hsa-miR-4797-5p	CLIP-seq
MIRT909101	hsa-miR-548b-3p	CLIP-seq
MIRT909102	hsa-miR-578	CLIP-seq
MIRT909079	hsa-miR-873	CLIP-seq
MIRT909103	hsa-miR-876-3p	CLIP-seq
MIRT1969374	hsa-miR-548aa	CLIP-seq
MIRT1969375	hsa-miR-1257	CLIP-seq
MIRT1969376	hsa-miR-1343	CLIP-seq
MIRT909032	hsa-miR-139-3p	CLIP-seq
MIRT1969377	hsa-miR-186	CLIP-seq
MIRT909033	hsa-miR-200b	CLIP-seq
MIRT909034	hsa-miR-200c	CLIP-seq
MIRT1969378	hsa-miR-3133	CLIP-seq
MIRT1969379	hsa-miR-3148	CLIP-seq
MIRT909039	hsa-miR-3192	CLIP-seq
MIRT909044	hsa-miR-337-3p	CLIP-seq
MIRT1969380	hsa-miR-342-5p	CLIP-seq
MIRT1969381	hsa-miR-3613-3p	CLIP-seq
MIRT1969382	hsa-miR-409-3p	CLIP-seq
MIRT909054	hsa-miR-429	CLIP-seq
MIRT909055	hsa-miR-4327	CLIP-seq
MIRT909094	hsa-miR-4452	CLIP-seq
MIRT909062	hsa-miR-4651	CLIP-seq
MIRT1969383	hsa-miR-4664-5p	CLIP-seq
MIRT1969384	hsa-miR-4666-3p	CLIP-seq
MIRT1969385	hsa-miR-4667-3p	CLIP-seq
MIRT909063	hsa-miR-4668-5p	CLIP-seq
MIRT909064	hsa-miR-4685-5p	CLIP-seq
MIRT1969386	hsa-miR-4790-3p	CLIP-seq
MIRT909100	hsa-miR-4797-5p	CLIP-seq
MIRT1969374	hsa-miR-548aa	CLIP-seq
MIRT1969387	hsa-miR-548ac	CLIP-seq
MIRT1969388	hsa-miR-548d-3p	CLIP-seq
MIRT1969389	hsa-miR-548z	CLIP-seq
MIRT1969390	hsa-miR-570	CLIP-seq
MIRT1969391	hsa-miR-591	CLIP-seq
MIRT909076	hsa-miR-608	CLIP-seq
MIRT1969392	hsa-miR-653	CLIP-seq
MIRT909080	hsa-miR-942	CLIP-seq
MIRT2205590	hsa-miR-1226	CLIP-seq
MIRT909030	hsa-miR-1238	CLIP-seq
MIRT2205591	hsa-miR-1251	CLIP-seq
MIRT909083	hsa-miR-129-5p	CLIP-seq
MIRT2205592	hsa-miR-1297	CLIP-seq
MIRT2205593	hsa-miR-147	CLIP-seq
MIRT909033	hsa-miR-200b	CLIP-seq
MIRT909034	hsa-miR-200c	CLIP-seq
MIRT2205594	hsa-miR-2110	CLIP-seq
MIRT909036	hsa-miR-23a	CLIP-seq
MIRT909037	hsa-miR-23b	CLIP-seq
MIRT909038	hsa-miR-23c	CLIP-seq
MIRT2205595	hsa-miR-26a	CLIP-seq
MIRT2205596	hsa-miR-26b	CLIP-seq
MIRT2205597	hsa-miR-300	CLIP-seq
MIRT1969379	hsa-miR-3148	CLIP-seq
MIRT2205598	hsa-miR-3177-5p	CLIP-seq
MIRT909044	hsa-miR-337-3p	CLIP-seq
MIRT2205599	hsa-miR-3650	CLIP-seq
MIRT909088	hsa-miR-3653	CLIP-seq
MIRT909089	hsa-miR-3658	CLIP-seq
MIRT909090	hsa-miR-3689d	CLIP-seq
MIRT2205600	hsa-miR-376c	CLIP-seq
MIRT2205601	hsa-miR-381	CLIP-seq
MIRT2205602	hsa-miR-3908	CLIP-seq
MIRT2205603	hsa-miR-3911	CLIP-seq
MIRT909053	hsa-miR-4271	CLIP-seq
MIRT909091	hsa-miR-4277	CLIP-seq
MIRT909054	hsa-miR-429	CLIP-seq
MIRT909055	hsa-miR-4327	CLIP-seq
MIRT2205604	hsa-miR-4427	CLIP-seq
MIRT2205605	hsa-miR-4455	CLIP-seq
MIRT2205606	hsa-miR-4465	CLIP-seq
MIRT909095	hsa-miR-4511	CLIP-seq
MIRT2205607	hsa-miR-4659a-3p	CLIP-seq
MIRT2205608	hsa-miR-4659b-3p	CLIP-seq
MIRT1969384	hsa-miR-4666-3p	CLIP-seq
MIRT909063	hsa-miR-4668-5p	CLIP-seq
MIRT2205609	hsa-miR-4680-3p	CLIP-seq
MIRT909064	hsa-miR-4685-5p	CLIP-seq
MIRT909065	hsa-miR-4719	CLIP-seq
MIRT909066	hsa-miR-4725-3p	CLIP-seq
MIRT2205610	hsa-miR-4733-3p	CLIP-seq
MIRT2205611	hsa-miR-4778-3p	CLIP-seq
MIRT909070	hsa-miR-488	CLIP-seq
MIRT909071	hsa-miR-494	CLIP-seq
MIRT2205612	hsa-miR-498	CLIP-seq
MIRT2205613	hsa-miR-520d-5p	CLIP-seq
MIRT2205614	hsa-miR-524-5p	CLIP-seq
MIRT1969374	hsa-miR-548aa	CLIP-seq
MIRT1969387	hsa-miR-548ac	CLIP-seq
MIRT909101	hsa-miR-548b-3p	CLIP-seq
MIRT1969388	hsa-miR-548d-3p	CLIP-seq
MIRT1969389	hsa-miR-548z	CLIP-seq
MIRT2205615	hsa-miR-556-5p	CLIP-seq
MIRT2205616	hsa-miR-576-3p	CLIP-seq
MIRT2205617	hsa-miR-600	CLIP-seq
MIRT2205618	hsa-miR-609	CLIP-seq
MIRT2205619	hsa-miR-634	CLIP-seq
MIRT2205620	hsa-miR-644	CLIP-seq
MIRT2205621	hsa-miR-656	CLIP-seq
MIRT909080	hsa-miR-942	CLIP-seq
MIRT2386450	hsa-miR-2053	CLIP-seq
MIRT2386451	hsa-miR-374c	CLIP-seq
MIRT2386452	hsa-miR-569	CLIP-seq
MIRT2386453	hsa-miR-595	CLIP-seq
MIRT2386454	hsa-miR-655	CLIP-seq
MIRT2427981	hsa-miR-153	CLIP-seq
MIRT2205594	hsa-miR-2110	CLIP-seq
MIRT2205597	hsa-miR-300	CLIP-seq
MIRT1969379	hsa-miR-3148	CLIP-seq
MIRT2205601	hsa-miR-381	CLIP-seq
MIRT909053	hsa-miR-4271	CLIP-seq
MIRT2427982	hsa-miR-4503	CLIP-seq
MIRT909096	hsa-miR-4643	CLIP-seq
MIRT1969384	hsa-miR-4666-3p	CLIP-seq
MIRT909063	hsa-miR-4668-5p	CLIP-seq
MIRT909066	hsa-miR-4725-3p	CLIP-seq
MIRT909030	hsa-miR-1238	CLIP-seq
MIRT2205591	hsa-miR-1251	CLIP-seq
MIRT2205592	hsa-miR-1297	CLIP-seq
MIRT909036	hsa-miR-23a	CLIP-seq
MIRT909037	hsa-miR-23b	CLIP-seq
MIRT909038	hsa-miR-23c	CLIP-seq
MIRT2205595	hsa-miR-26a	CLIP-seq
MIRT2205596	hsa-miR-26b	CLIP-seq
MIRT909084	hsa-miR-2964a-3p	CLIP-seq
MIRT909085	hsa-miR-302f	CLIP-seq
MIRT909086	hsa-miR-3140-3p	CLIP-seq
MIRT2205600	hsa-miR-376c	CLIP-seq
MIRT2205606	hsa-miR-4465	CLIP-seq
MIRT2205607	hsa-miR-4659a-3p	CLIP-seq
MIRT2205608	hsa-miR-4659b-3p	CLIP-seq
MIRT909097	hsa-miR-4704-5p	CLIP-seq
MIRT2205611	hsa-miR-4778-3p	CLIP-seq
MIRT2205612	hsa-miR-498	CLIP-seq
MIRT909080	hsa-miR-942	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CIITA	Unknown	9858618
E2F1	Unknown	9238849
EP300	Unknown	9651310
MYC	Unknown	12776737
YY1	Repression	21852380
YY1	Unknown	9238849

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	21539536
GO:0000123	Component	Histone acetyltransferase complex	IBA
GO:0000123	Component	Histone acetyltransferase complex	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	29670289, 30612738
GO:0000785	Component	Chromatin	IDA	21539536
GO:0001223	Function	Transcription coactivator binding	IEA
GO:0001223	Function	Transcription coactivator binding	IPI	11349124
GO:0001666	Process	Response to hypoxia	IEA
GO:0001666	Process	Response to hypoxia	TAS	15261140
GO:0002039	Function	P53 binding	IPI	9194565
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	IEA
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0003682	Function	Chromatin binding	IDA	24939902
GO:0003682	Function	Chromatin binding	IEA
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	12169688, 12435739, 12586840, 12929931, 14645221
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	IPI	8684459
GO:0003713	Function	Transcription coactivator activity	TAS	10362258, 10893273, 11001584
GO:0003714	Function	Transcription corepressor activity	IDA	21539536
GO:0004402	Function	Histone acetyltransferase activity	IBA
GO:0004402	Function	Histone acetyltransferase activity	IDA	11742995
GO:0004402	Function	Histone acetyltransferase activity	IEA
GO:0004402	Function	Histone acetyltransferase activity	TAS	10362258
GO:0005515	Function	Protein binding	IPI	8684459, 9018065, 9194564, 9323138, 9687513, 9811832, 9887100, 10049825, 10196247, 10347196, 10428834, 10722728, 10722738, 10823891, 10866662, 11568182, 11799127, 11897665, 11940655, 12435739, 12482968, 14645221, 14716005, 14759370, 15075319, 15126506, 15220471, 15273251, 16043483, 1
GO:0005634	Component	Nucleus	IC	12169688
GO:0005634	Component	Nucleus	IDA	12929931, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7913207
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005737	Component	Cytoplasm	IDA	35675826
GO:0005737	Component	Cytoplasm	IDA	12929931
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	7913207
GO:0005829	Component	Cytosol	TAS
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	7913207, 15261140
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	35675826
GO:0006473	Process	Protein acetylation	IDA	15273251, 24207024, 24939902, 28790157
GO:0007165	Process	Signal transduction	NAS	15261140
GO:0007165	Process	Signal transduction	TAS	7913207
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	12048232
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	16135789
GO:0007249	Process	Canonical NF-kappaB signal transduction	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	TAS	11001584
GO:0016407	Function	Acetyltransferase activity	EXP	12456660, 16135789
GO:0016407	Function	Acetyltransferase activity	IDA	11742995, 15273251, 24939902
GO:0016479	Process	Negative regulation of transcription by RNA polymerase I	IDA	30540930
GO:0016604	Component	Nuclear body	IDA	15488321
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0018076	Process	N-terminal peptidyl-lysine acetylation	IDA	12435739
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:0031490	Function	Chromatin DNA binding	IBA
GO:0031648	Process	Protein destabilization	IEA
GO:0031648	Process	Protein destabilization	IMP	24939902
GO:0031669	Process	Cellular response to nutrient levels	IDA	35675826
GO:0031669	Process	Cellular response to nutrient levels	IDA	35675826
GO:0031669	Process	Cellular response to nutrient levels	IEA
GO:0034644	Process	Cellular response to UV	IDA	24939902
GO:0034644	Process	Cellular response to UV	IEA
GO:0042592	Process	Homeostatic process	NAS	15261140
GO:0042733	Process	Embryonic digit morphogenesis	TAS	11001584
GO:0043426	Function	MRF binding	IDA	8621548
GO:0043993	Function	Histone H3K18 acetyltransferase activity	IDA	21131905
GO:0043993	Function	Histone H3K18 acetyltransferase activity	IEA
GO:0044017	Function	Histone H3K27 acetyltransferase activity	IDA	21131905
GO:0044017	Function	Histone H3K27 acetyltransferase activity	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11742995
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12169688
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048156	Function	Tau protein binding	TAS	28386764
GO:0048511	Process	Rhythmic process	IEA
GO:0050821	Process	Protein stabilization	IDA	35675826
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	16043483, 21539536
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	TAS	11001584
GO:0061733	Function	Protein-lysine-acetyltransferase activity	EXP	34239064
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IDA	24207024, 28790157, 30540930, 35675826
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IEA
GO:0061733	Function	Protein-lysine-acetyltransferase activity	TAS	28386764
GO:0065003	Process	Protein-containing complex assembly	TAS	7913207
GO:0071108	Process	Protein K48-linked deubiquitination	IDA	35675826
GO:0097009	Process	Energy homeostasis	IDA	35675826
GO:0120300	Function	Peptide lactyltransferase (CoA-dependent) activity	IDA	38128537
GO:0120300	Function	Peptide lactyltransferase (CoA-dependent) activity	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	15509593, 15674325
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	IDA	35675826
GO:1900182	Process	Positive regulation of protein localization to nucleus	IDA	35675826
GO:1900182	Process	Positive regulation of protein localization to nucleus	IEA
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	38128537

Other IDs

• MIM: 600140
• HGNC: 2348
• e!Ensembl: ENSG00000005339

Protein

• UniProt ID: Q92793
• Protein name: CREB-binding protein (Histone lysine acetyltransferase CREBBP) (EC 2.3.1.48) (Protein lactyltransferas CREBBP) (EC 2.3.1.-) (Protein-lysine acetyltransferase CREBBP) (EC 2.3.1.-)
• Protein function: Acetylates histones, giving a specific tag for transcriptional activation (PubMed:21131905, PubMed:24616510). Mediates acetylation of histone H3 at 'Lys-18' and 'Lys-27' (H3K18ac and H3K27ac, respectively) (PubMed:21131905). Also acetylates non-
• PDB: 1JSP, 1LIQ, 1RDT, 1WO3, 1WO4, 1WO5, 1WO6, 1WO7, 1ZOQ, 2D82, 2KJE, 2KWF, 2L84, 2L85, 2LXS, 2LXT, 2N1A, 2RNY, 3DWY, 3P1C, 3P1D, 3P1E, 3P1F, 3SVH, 4A9K, 4N3W, 4N4F, 4NR4, 4NR5, 4NR6, 4NR7, 4NYV, 4NYW, 4NYX, 4OUF, 4TQN, 4TS8, 4WHU, 4YK0, 5CGP, 5DBM, 5EIC, 5ENG, 5EP7, 5GH9, 5H85, 5I83, 5I86, 5I89, 5I8B, 5I8G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02135	zf-TAZ	354 → 430	TAZ zinc finger	Family
  PF02172	KIX	587 → 667	KIX domain	Domain
  PF00439	Bromodomain	1094 → 1180	Bromodomain	Domain
  PF06001	DUF902	1192 → 1231	Domain of Unknown Function (DUF902)	Domain
  PF08214	HAT_KAT11	1342 → 1649	Histone acetylation protein	Domain
  PF00569	ZZ	1701 → 1742	Zinc finger, ZZ type	Domain
  PF02135	zf-TAZ	1772 → 1843	TAZ zinc finger	Family
  PF09030	Creb_binding	2017 → 2114	Creb binding	Domain

• Sequence:

  MAENLLDGPPNPKRAKLSSPGFSANDSTDFGSLFDLENDLPDELIPNGGELGLLNSGNLV
  PDAASKHKQLSELLRGGSGSSINPGIGNVSASSPVQQGLGGQAQGQPNSANMASLSAMGK
  SPLSQGDSSAPSLPKQAASTSGPTPAASQALNPQAQKQVGLATSSPATSQTGPGICMNAN
  FNQTHPGLLNSNSGHSLINQASQGQAQVMNGSLGAAGRGRGAGMPYPTPAMQGASSSVLA
  ETLTQVSPQMTGHAGLNTAQAGGMAKMGITGNTSPFGQPFSQAGGQPMGATGVNPQLASK
  QSMVNSLPTFPTDIKNTSVTNVPNMSQMQTSVGIVPTQAIATGPTADPEKRKLIQQQLVL
  LLHAHKCQRREQANGEVRACSLPHCRTMKNVLNHMTHCQAGKACQVAHCASSRQIISHWK
  NCTRHDCPVCLPLKNASDKRNQQTILGSPASGIQNTIGSVGTGQQNATSLSNPNPIDPSS
  MQRAYAALGLPYMNQPQTQLQPQVPGQQPAQPQTHQQMRTLNPLGNNPMNIPAGGITTDQ
  QPPNLISESALPTSLGATNPLMNDGSNSGNIGTLSTIPTAAPPSSTGVRKGWHEHVTQDL
  RSHLVHKLVQAIFPTPDPAALKDRRMENLVAYAKKVEGDMYESANSRDEYYHLLAEKIYK
  IQKELEEKRRSRLHKQGILGNQPALPAPGAQPPVIPQAQPVRPPNGPLSLPVNRMQVSQG
  MNSFNPMSLGNVQLPQAPMGPRAASPMNHSVQMNSMGSVPGMAISPSRMPQPPNMMGAHT
  NNMMAQAPAQSQFLPQNQFPSSSGAMSVGMGQPPAQTGVSQGQVPGAALPNPLNMLGPQA
  SQLPCPPVTQSPLHPTPPPASTAAGMPSLQHTTPPGMTPPQPAAPTQPSTPVSSSGQTPT
  PTPGSVPSATQTQSTPTVQAAAQAQVTPQPQTPVQPPSVATPQSSQQQPTPVHAQPPGTP
  LSQAAASIDNRVPTPSSVASAETNSQQPGPDVPVLEMKTETQAEDTEPDPGESKGEPRSE
  MMEEDLQGASQVKEETDIAEQKSEPMEVDEKKPEVKVEVKEEEESSSNGTASQSTSPSQP
  RKKIFKPEELRQALMPTLEALYRQDPESLPFRQPVDPQLLGIPDYFDIVKNPMDLSTIKR
  KLDTGQYQEPWQYVDDVWLMFNNAWLYNRKTSRVYKFCSKLAEVFEQEIDPVMQSLGYCC
  GRKYEFSPQTLCCYGKQLCTIPRDAAYYSYQNRYHFCEKCFTEIQGENVTLGDDPSQPQT
  TISKDQFEKKKNDTLDPEPFVDCKECGRKMHQICVLHYDIIWPSGFVCDNCLKKTGRPRK
  ENKFSAKRLQTTRLGNHLEDRVNKFLRRQNHPEAGEVFVRVVASSDKTVEVKPGMKSRFV
  DSGEMSESFPYRTKALFAFEEIDGVDVCFFGMHVQEYGSDCPPPNTRRVYISYLDSIHFF
  RPRCLRTAVYHEILIGYLEYVKKLGYVTGHIWACPPSEGDDYIFHCHPPDQKIPKPKRLQ
  EWYKKMLDKAFAERIIHDYKDIFKQATEDRLTSAKELPYFEGDFWPNVLEESIKELEQEE
  EERKKEESTAASETTEGSQGDSKNAKKKNNKKTNKNKSSISRANKKKPSMPNVSNDLSQK
  LYATMEKHKEVFFVIHLHAGPVINTLPPIVDPDPLLSCDLMDGRDAFLTLARDKHWEFSS
  LRRSKWSTLCMLVELHTQGQDRFVYTCNECKHHVETRWHCTVCEDYDLCINCYNTKSHAH
  KMVKWGLGLDDEGSSQGEPQSKSPQESRRLSIQRCIQSLVHACQCRNANCSLPSCQKMKR
  VVQHTKGCKRKTNGGCPVCKQLIALCCYHAKHCQENKCPVPFCLNIKHKLRQQQIQHRLQ
  QAQLMRRRMATMNTRNVPQQSLPSPTSAPPGTPTQQPSTPQTPQPPAQPQPSPVSMSPAG
  FPSVARTQPPTTVSTGKPTSQVPAPPPPAQPPPAAVEAARQIEREAQQQQHLYRVNINNS
  MPPGRTGMGTPGSQMAPVSLNVPRPNQVSGPVMPSMPPGQWQQAPLPQQQPMPGLPRPVI
  SMQAQAAVAGPRMPSVQPPRSISPSALQDLLRTLKSPSSPQQQQQVLNILKSNPQLMAAF
  IKQRTAKYVANQPGMQPQPGLQSQPGMQPQPGMHQQPSLQNLNAMQAGVPRPGVPPQQQA
  MGGLNPQGQALNIMNPGHNPNMASMNPQYREMLRRQLLQQQQQQQQQQQQQQQQQQGSAG
  MAGGMAGHGQFQQPQGPGGYPPAMQQQQRMQQHLPLQGSSMGQMAAQMGQLGQMGQPGLG
  ADSTPNIQQALQQRILQQQQMKQQIGSPGQPNPMSPQQHMLSGQPQASHLPGQQIATSLS
  NQVRSPAPVQSPRPQSQPPHSSPSPRIQPQPSPHHVSPQTGSPHPGLAVTMASSIDQGHL
  GNPEQSAMLPQLNTPSRSALSSELSLVGDTTGDTLEKFVEGL

• Sequence length: 2442

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal cerebral morphology	Pathogenic	rs2141496166	RCV002276337	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs267606752	RCV001813970	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Pathogenic	rs587783483, rs1555473491	RCV005888120 RCV005900131	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital heart anomalies	Pathogenic	rs1057520652	RCV005238988	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corpus callosum, agenesis of	Pathogenic	rs1384496494	RCV001526626	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CREBBP-related disorder	Likely pathogenic; Pathogenic	rs587783502, rs587783509, rs2141496166, rs786205495, rs797045037, rs587783507, rs121434626, rs267606752, rs2151317319, rs988251457, rs1411086593, rs1596910004, rs1596793242, rs587783483	RCV003398783 RCV004724925 RCV003403768 RCV003982920 RCV003422092 RCV004545758 RCV005249986 RCV004742224 RCV004545857 RCV003402462 RCV003403027 RCV003911583 RCV004726706 RCV003413671	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glaucoma	Likely pathogenic; Pathogenic	rs1057518844	RCV000415361	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs1057518789	RCV000414795	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs587783483, rs797045037, rs267606752, rs2051852330, rs2051863859	RCV001260696 RCV001260745 RCV001260694 RCV001260744 RCV001260695	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kabuki-like syndrome	Likely pathogenic	rs797045492	RCV001261355	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant lymphoma, large B-cell, diffuse	Pathogenic	rs2151336596	RCV003449013	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs200782888	RCV005888121	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Menke-Hennekam syndrome	Pathogenic	rs886039491	RCV002282094	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Menke-Hennekam syndrome 1	Likely pathogenic; Pathogenic	rs2151316542, rs2151309510, rs2151306905, rs2151306514, rs146718571, rs587783505, rs587783483, rs933672395, rs1555471394, rs797045037, rs267606752, rs879255381, rs886039491, rs794727535, rs1131691326, rs1302427305, rs1555471931, rs1567263529, rs1567265203, rs1567265131, rs1596791996	RCV002504629 RCV001543358 RCV002221826 RCV002245513 RCV005052854 RCV004796043 RCV002498664 RCV002280359 RCV002285198 RCV000757968 RCV002496320 RCV002290966 RCV000757967 RCV003333820 RCV000757966 RCV005869526 RCV003329314 RCV001027872 RCV000757965 RCV000757969 RCV005021267	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple myeloma	Likely pathogenic	rs1159294530	RCV000984087	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs587783502, rs2141496166	RCV004668805 RCV004673656	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs121434626	RCV001780057	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilocytic astrocytoma	Likely pathogenic; Pathogenic	rs587783502	RCV006253830	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Precursor B-cell acute lymphoblastic leukemia	Likely pathogenic; Pathogenic	rs587783502	RCV006253829	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic intellectual disability	Likely pathogenic; Pathogenic	rs886041518, rs2151312423	RCV001256995 RCV001257011	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rubinstein-Taybi syndrome	Likely pathogenic; Pathogenic	rs2151316542, rs2151327974, rs2052993075, rs2141248421, rs2151317319, rs2151327706, rs2151381815, rs2141203402, rs2053923868, rs2151334254, rs751913060, rs199817036, rs2141491677, rs2151383792, rs2151330226, rs2151327978, rs2151308298, rs398124138, rs1596852670, rs2151311901, rs587783507, rs587783502, rs200782888, rs587783483, rs587783516, rs2151385663, rs2548546502, rs2548545122, rs797045037, rs2548368576, rs2151329629, rs2548416338, rs2548346371, rs2151384150, rs201156486, rs77109850, rs2141181339, rs2548443607, rs2141219467, rs2548345332, rs2548391838, rs2053517680, rs879255381, rs2151307419, rs2548543877, rs2548363833, rs2548407772, rs2548493742, rs2548362072, rs2548440455, rs2548406913, rs2141199590, rs1596784178, rs2548384585, rs2141199028, rs2548356509, rs2548544025, rs2151305375, rs1057518844, rs1057520652, rs1131691326, rs1555471323, rs1555496581, rs1555484797, rs1555471874, rs1555472931, rs1555473668, rs1555473491, rs1555483834, rs1567306142, rs1567276741, rs1567263114, rs1567263168, rs2151309318, rs1596786167, rs778375586, rs1596805575, rs1596886183, rs1596895545, rs1596908213, rs1596909915, rs1597054430, rs587783480, rs1596920501, rs1384496494, rs61731407, rs2052070776, rs2052980008, rs2053306001, rs2054809165, rs2055490182, rs2053202354, rs2052073167, rs2053266530, rs2052610724, rs2053092574, rs2052993184, rs2051909999, rs2053305017, rs2055490682, rs2051819669	RCV001377314 RCV001378472 RCV001377152 RCV001378596 RCV001390956 RCV001383661 RCV001383322 RCV001380506 RCV001384100 RCV001866006 RCV001912665 RCV001884465 RCV001932304 RCV001930793 RCV002017432 RCV001975149 RCV002035383 RCV002007528 RCV002011725 RCV001939522 RCV005089680 RCV003593918 RCV001390957 RCV005089678 RCV005089681 RCV003064314 RCV003064315 RCV002819163 RCV002517032 RCV002824968 RCV002802158 RCV002816095 RCV002851952 RCV002893887 RCV002913817 RCV002948291 RCV003031172 RCV003020509 RCV003018646 RCV003020159 RCV003049726 RCV003040308 RCV002518519 RCV003595018 RCV003595455 RCV003593625 RCV003593541 RCV003593591 RCV003593782 RCV003593839 RCV003594467 RCV003760884 RCV003760965 RCV003761100 RCV003760941 RCV003758319 RCV003758504 RCV003758594 RCV005090685 RCV001851047 RCV003758800 RCV002231254 RCV002231252 RCV002231028 RCV002233937 RCV002234418 RCV002233936 RCV000633000 RCV002234417 RCV002233539 RCV002232872 RCV002233133 RCV000823101 RCV002535428 RCV003594027 RCV000798264 RCV000806116 RCV000799589 RCV000804679 RCV000815586 RCV000791751 RCV000815567 RCV000810810 RCV000822242 RCV001234331 RCV005092540 RCV002536209 RCV001066810 RCV001055503 RCV001049869 RCV001058497 RCV001045064 RCV001065620 RCV001057165 RCV001221458 RCV001218604 RCV001205702 RCV001213863 RCV001224110 RCV001226464 RCV001233402 RCV001233937 RCV001245026	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic; Likely pathogenic	rs398124145, rs2055490250, rs2151316542, rs2151317319, rs2151327706, rs2151385509, rs2151304304, rs2141247044, rs199821421, rs121434626, rs866703165, rs2151383848, rs2151354104, rs1596791996, rs2141237064, rs2151306905, rs2141237372, rs267606752, rs2151308835, rs928061320, rs2141214738, rs2151309803, rs146718571, rs2151341377, rs587783511, rs587783510, rs587783508, rs587783506, rs587783507, rs587783505, rs587783503, rs587783502, rs587783500, rs587783499, rs587783497, rs587783496, rs587783495, rs147688139, rs587783494, rs587783493, rs587783492, rs587783491, rs587783490, rs587783489, rs587783488, rs587783486, rs587783485, rs200782888, rs587783483, rs587783482, rs587783480, rs587783479, rs587783475, rs587783473, rs587783471, rs587783470, rs587783469, rs587783467, rs587783465, rs587783464, rs587783463, rs587783461, rs587783460, rs587783516, rs587783509, rs587783478, rs587783477, rs587783476, rs587783515, rs587783484, rs2548362003, rs2548493723, rs2548370412, rs61731412, rs2548347574, rs2151309006, rs2151385663, rs2548391755, rs2548546554, rs797045037, rs797045500, rs797045499, rs797045498, rs797045496, rs797045495, rs797045494, rs797045492, rs797045490, rs797045489, rs797045488, rs797045485, rs797045484, rs797045483, rs797045502, rs797045491, rs797045486, rs11644721, rs797045487, rs869312714, rs2548362175, rs2548433644, rs2151383341, rs1467929364, rs2548464336, rs121434624, rs121434625, rs2151330140, rs28937315, rs1567277287, rs886041048, rs886041286, rs886041518, rs2141232415, rs2548464208, rs2548344893, rs1596910004, rs2548347663, rs2548407956, rs2548407772, rs2548393816, rs201156486, rs2548392468, rs2141232462, rs2548347011, rs2548364207, rs2548493542, rs1057518789, rs1057518844, rs1057519884, rs1064796457, rs1555475352, rs1302427305, rs1555471077, rs1555471323, rs1555472938, rs1555496560, rs1555484797, rs1555473105, rs1555483716, rs1555471931, rs1555470631, rs1567262537, rs1567269316, rs1555483834, rs1567316655, rs1567318022, rs1555481030, rs1555473122, rs1567309482, rs1567262786, rs1567386034, rs1567263114, rs2151309318, rs1567287477, rs1596787459, rs1597099388, rs1596783639, rs1596812256, rs1596784310, rs1596784713, rs1596785514, rs1596786219, rs1596786512, rs1596786752, rs1596804073, rs1596804126, rs1596805792, rs1596805807, rs1596805927, rs1596810419, rs1596810435, rs1596810465, rs778448390, rs145988918, rs1596812202, rs1596812290, rs1596812306, rs149877180, rs1596813570, rs1596813665, rs1596834998, rs748451307, rs1596852443, rs1596852463, rs1596852578, rs1596854023, rs1596854369, rs1596856176, rs1596856285, rs1596856390, rs1596878700, rs1596878921, rs1596882010, rs1596882124, rs1374436403, rs1596882629, rs1596885651, rs1596885894, rs1596886048, rs1596886132, rs1596886295, rs1596894889, rs1596895500, rs1596909791, rs1354934373, rs1596917200, rs1596920501, rs1596920745, rs1596944340, rs1596947732, rs1596947743, rs1384496494, rs1596948052, rs1596948165, rs1596984633, rs1597053322, rs1597053504, rs1597053795, rs1597054242, rs1597054662, rs1597054837, rs1596793242, rs1596803811, rs1596852670, rs1596852674, rs1596882004, rs1596897799, rs1596909656, rs1596920360, rs1596947522, rs1596823180, rs1596916327, rs1596853925, rs2052070776, rs2051863859, rs2052611239, rs2053254528, rs988251457, rs200616542, rs2051830234, rs2051906390, rs2053190428, rs2052622209, rs2051825168, rs2051858361	RCV000499536 RCV001331220 RCV002504629 RCV005410935 RCV005866993 RCV001420156 RCV001563617 RCV001730138 RCV001754541 RCV005860255 RCV001807959 RCV001808129 RCV001814883 RCV001842251 RCV002077368 RCV002221826 RCV002223099 RCV002226836 RCV002226990 RCV002226996 RCV002245282 RCV002249839 RCV002249840 RCV002250932 RCV000145777 RCV000145775 RCV000145773 RCV000145771 RCV000145772 RCV000145769 RCV000145765 RCV000145764 RCV000145762 RCV000145760 RCV000145757 RCV000145756 RCV000145755 RCV000145754 RCV000145753 RCV000145752 RCV000145750 RCV000145749 RCV000145748 RCV000145747 RCV000145746 RCV000145744 RCV000145743 RCV000145741 RCV000145739 RCV000145738 RCV000145736 RCV000145735 RCV000145730 RCV000145726 RCV000145724 RCV000145723 RCV000145722 RCV000145719 RCV000145717 RCV000145716 RCV000145715 RCV000145713 RCV000145711 RCV000145784 RCV000145774 RCV000145734 RCV000145733 RCV000145732 RCV000145783 RCV000145740 RCV002282719 RCV002283594 RCV002287221 RCV002471646 RCV002471870 RCV002470191 RCV005869996 RCV002510718 RCV002510739 RCV000191076 RCV000192313 RCV000194469 RCV000193252 RCV000195029 RCV000194204 RCV000193359 RCV000195137 RCV000192723 RCV000194047 RCV000192840 RCV000194630 RCV000194548 RCV000193709 RCV000192496 RCV000192380 RCV000195252 RCV000192951 RCV000193581 RCV000193780 RCV000209852 RCV002790011 RCV003128091 RCV004594680 RCV003148514 RCV003159266 RCV000010035 RCV000010036 RCV000010037 RCV000010038 RCV000010039 RCV000010040 RCV000010041 RCV000258851 RCV000850544 RCV002250613 RCV003314281 RCV003315205 RCV003319568 RCV003388801 RCV003397187 RCV003447759 RCV004783083 RCV005603860 RCV003985962 RCV003990437 RCV003991180 RCV004551154 RCV004555938 RCV004556166 RCV004595156 RCV004595831 RCV003326423 RCV001198296 RCV004594056 RCV005222963 RCV000497205 RCV000502986 RCV000501651 RCV000503664 RCV004576957 RCV000538610 RCV000527062 RCV003157633 RCV005231144 RCV000624200 RCV003147522 RCV000625603 RCV000754905 RCV000754903 RCV000754898 RCV000754900 RCV000754899 RCV000661965 RCV000677660 RCV000678969 RCV004596326 RCV000698529 RCV000710038 RCV003147541 RCV000760233 RCV000824846 RCV000850371 RCV000856797 RCV000856783 RCV000856888 RCV000856887 RCV000856885 RCV000856886 RCV000856884 RCV000856926 RCV000856925 RCV000856924 RCV000856923 RCV000856920 RCV000856919 RCV000856917 RCV000856915 RCV000856883 RCV000856881 RCV000856880 RCV000856879 RCV000856878 RCV000856876 RCV000856875 RCV000856874 RCV000856873 RCV000856872 RCV000856871 RCV000856870 RCV000856914 RCV000856910 RCV000856909 RCV000856908 RCV000856907 RCV000856904 RCV000856903 RCV000856868 RCV000856867 RCV000856866 RCV000856865 RCV000856864 RCV000856862 RCV000856861 RCV000856860 RCV000856859 RCV000856858 RCV000856857 RCV000856856 RCV000856855 RCV000856854 RCV000856902 RCV000856900 RCV000856897 RCV000856895 RCV000856894 RCV000856892 RCV000856891 RCV000856890 RCV000856853 RCV000856852 RCV000856851 RCV000856850 RCV000856849 RCV000856848 RCV000856846 RCV000856845 RCV000856844 RCV000856842 RCV000856841 RCV000856840 RCV000856922 RCV000856921 RCV000856869 RCV000856913 RCV000856905 RCV000856906 RCV000856863 RCV000856899 RCV000856898 RCV000856896 RCV000856893 RCV000856889 RCV000989508 RCV000989511 RCV001027692 RCV005601672 RCV001089539 RCV001759862 RCV001249727 RCV001249612 RCV001249613 RCV001252210 RCV001252207 RCV001253321 RCV001253817 RCV001261356 RCV001265550 RCV005225341	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Scoliosis	Pathogenic	rs1057518789	RCV000414795	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thumb deformity	Likely pathogenic; Pathogenic	rs1057518844	RCV000415361	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs1596910004	RCV005932731 RCV005936801	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tip-toe gait	Likely pathogenic	rs2151311520	RCV002052282	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial septal defect 5	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ 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	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 16P13.3 DELETION SYNDROME, PROXIMAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	-; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1R	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOGENOUS DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung disease, susceptibility to, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRICHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy 11	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction 4	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, FOLLICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma WNT activated	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ 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 DUE TO 16P13.3 MICRODELETION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEZARY SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teratoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ 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	10469454, 10706136		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10679915, 15312679, 21390130, 23728349, 27903646, 27979926, 28452416, 30262461		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	28097792, 28871137, 9447825, 9731070		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia with t(8;16)(p11;p13) translocation	Myeloid Leukemia With T(8;16)(P11;P13) Translocation	ORPHANET_DG	18698081, 23974201		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia with t(8;16)(p11;p13) translocation	Myeloid Leukemia With T(8;16)(P11;P13) Translocation	Orphanet			★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	11157802, 15085163, 9226152		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	20541704		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	14535629		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	28625977		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	17720775		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26628108, 29141249, 29453984		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27158780		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10679915, 23728349, 27903646		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	21390126, 28302137, 31669559		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22722829		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	10473588, 11090202, 11264182, 21244576, 9528808		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	20101707, 23685749		★☆☆☆☆ 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
Aicardi Syndrome	Aicardi syndrome	Pubtator	31857685	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	27480489	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	12770687, 16786226		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	CTD_human_DG	11796754		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	14684849		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	35274786	Stimulate	★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	24839169		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	24977327		★☆☆☆☆ 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
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	23685749		★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	BEFREE	21932317		★☆☆☆☆ Found in Text Mining only
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	BEFREE	20101707		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	29217191	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	12153977, 17573727		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	32493417	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	26598538	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	16409551		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	37161136	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	26290361	Inhibit	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	34615535, 35422816	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26730956		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	23315884, 25768348	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	25768348, 26730956		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	25154413		★☆☆☆☆ Found in Text Mining only
Avascular necrosis of the capital femoral epiphysis	Avascular Necrosis Of The Capital Femoral Epiphysis	BEFREE	29383823		★☆☆☆☆ 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
Azoospermia	Azoospermia	Pubtator	27834916	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28069569		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	21822268		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21935574, 31223286		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	15312679		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	BEFREE	29460469		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	2879932	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	39252244	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	31882850	Associate	★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	23199169	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	Pubtator	30635043	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17321669, 25867061, 27270325, 30461194, 30597111, 30621694, 30628071		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10648616, 10688660, 19183483, 22002538, 27270325, 28990063, 30420728, 30597111, 30606771, 30692147, 33827682, 36114448, 36826464, 9443979	Associate	★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	10958659		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19893992, 28939763	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12237408		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	37660928	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19893992, 30021196, 33783990, 36308411	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	36574443	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21935574, 31223286		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15701835, 25294805, 26628108, 28680062, 29141249		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24977327, 32119844	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29506494	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	24551300, 25735316, 28007623	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34398873, 34851968, 35698008	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	21822268	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	11564156		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29050320		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	33407844	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	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	40629591	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10679915, 22388726, 23728349, 25917266, 27903646		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	11157802, 12619164		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22722829		★☆☆☆☆ Found in Text Mining only
Chorioretinal dystrophy	Chorioretinal dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	22177454		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	19218654		★☆☆☆☆ Found in Text Mining only
Clear Cell Sarcoma of Soft Tissue	Sarcoma	BEFREE	11709699		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	32241273	Associate	★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	12416539		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	15207239, 22116937		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34071322, 36872777	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	28751935, 29794741, 39252244	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	14732695, 18054336, 18362468		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	17720775	Associate	★☆☆☆☆ Found in Text Mining only
Color blindness	Color Blindness	BEFREE	2879932		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17720775, 28465257, 28740336, 30951563, 31118064		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	14732695, 17720775, 21209843, 30951563, 31856851, 34572494, 35638907, 35798829	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	35638907	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	30633342		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation	Congenital Central Hypoventilation	BEFREE	19191321		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	30759270		★☆☆☆☆ 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 Heart Defects	Congenital heart defects	BEFREE	17702016, 28007608, 9949198		★☆☆☆☆ 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 carinatum	Congenital Pectus Carinatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31601682		★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	17702016, 25805166		★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	24352918, 30770747		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	22467641		★☆☆☆☆ Found in Text Mining only
De Lange Syndrome	De lange syndrome	Pubtator	30770747	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29514675		★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	23432975	Associate	★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	11211058		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	19955554	Stimulate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	11437234, 12566391, 26730956, 30633342, 31806049		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	22287508, 36385105	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22885922, 27561725, 27832201, 30044210		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22885922, 27561725, 27832201, 30044210		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31870441	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	11296231, 23776558	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24204704		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27832201		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	21390126, 24529102, 26473533, 28069569, 28288979, 28302137, 28831000, 31519498, 31669559		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dubowitz syndrome	Dubowitz syndrome	Pubtator	33098347	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	12725419		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	23432975	Associate	★☆☆☆☆ Found in Text Mining only
Dysgenesis of corpus callosum	Dysplastic corpus callosum	BEFREE	20101707		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	27734840	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10699051, 12070251, 12114483, 13983033, 15706485, 16021471, 16783566, 18792986, 25108505, 25388907, 25599811, 26603346, 26788536, 26956253, 27165009, 27311832, 27342041, 27899622		★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	30892814		★☆☆☆☆ Found in Text Mining only
Endogenous depression	Mental Depression	PSYGENET_DG	19955554		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	14601091, 22876322		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	14601091		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	14601091	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	14601091	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	19074548	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	19011377	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28007608		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	25684946		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25839328, 28939763, 34016787	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	35986282	Associate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	28752224		★☆☆☆☆ Found in Text Mining only
Familial paroxysmal dystonia	Paroxysmal dystonia	Pubtator	15147375	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	10679915		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	10679915		★☆☆☆☆ Found in Text Mining only
Fibrocystic Breast Disease	Breast fibrocystic disease	Pubtator	31857685	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29862292		★☆☆☆☆ Found in Text Mining only
Filippi syndrome	Filippi Syndrome	BEFREE	26956253		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	35986282, 36653044	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glaucoma	Glaucoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glaucoma	Glaucoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	36653044	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23908595, 33577785	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23408876		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25007077, 26972001, 32493417, 37713468	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Graves Disease	Graves Disease	BEFREE	26116233		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	32386048	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	30029671		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	9226152	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	11962765, 12696060, 27380996, 27881443		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	30110629	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	9226152		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	26603525		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	33827682	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	30213827	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	10823891, 11264541, 11466559, 20448484, 22116937, 22122824, 22426400, 24248060		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	36902304	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	40428410	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28148567		★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	BEFREE	31137009		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	15725703		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28709919		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	BEFREE	9949198		★☆☆☆☆ 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, 8917528	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23756865	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	22241478		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	15207239, 16786226, 20096957, 22116937, 25388907, 28855330		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	15207239, 17702016, 21984751, 27165009, 27964710, 30633342, 31806049		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	29883886, 31870441	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	9290955		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	29932446		★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Latent autoimmune diabetes in adults	Pubtator	26839444	Associate	★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	BEFREE	29383823		★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11333923, 11742995, 22972988, 27219024, 29884215, 32945392, 33527899, 9558366	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11355923, 15312679, 15334549, 18657848, 19737967, 20818375, 23307074, 23728349, 24720539, 27219024, 28452416, 29317678, 9238046, 9290955		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	14744133, 17579344		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12619164, 17296583, 17920756, 24798186, 25220592, 33527899, 34663789, 37055414, 9166831, 9226152, 9238046	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	27158276	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	11333923, 19011377	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10679915, 10862050, 11157802, 12461753, 12619164, 12676584, 15085163, 15101047, 15147375, 15312679, 15657427, 16849538, 17296583, 18657848, 18754862, 23022987, 24390445, 24798186, 25184385, 25220592, 25893291, 28097792, 28871137, 29072699, 30759270, 30986495, 8782817, 9166831, 9177780, 9290955, 9447825		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	17296583		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	9290955		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	29784880	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27431312		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	37464780	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15701835		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	17434128		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17434128, 25897662, 26318425, 26628108, 29141249, 31223286, 34121659, 36117234, 37060831	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	18398941		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	11238674	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	18398941		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	11238674, 18398941		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	18398941		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	21577103, 27733359, 28062671, 28069569, 30979734, 31519498		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	26731516, 29884215, 31533053, 33311649	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	24362818, 25713363, 29193015, 30348636, 32555149, 32929178, 33211828, 33945543, 34601504, 34957565, 35363872, 35734168, 35816682, 36240289, 36939219, 36994552, 37493986, 37561599, 39191762	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	21390126, 25027518, 25713363, 28069569, 28288979, 29452662, 30348636, 31182547, 31519498		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Follicular	Lymphoma	CTD_human_DG	24362818		★★☆☆☆ 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	CGI_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Small Cleaved-Cell, Follicular	Lymphoma	CTD_human_DG	24362818		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	24377530	Associate	★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	11211058		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	22386572		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	30029671		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17321669, 25867061, 27270325, 30461194, 30597111, 30621694, 30628071		★☆☆☆☆ 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	15701835, 25294805, 26628108, 28680062, 29141249		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29050320		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25082960		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12507906, 15663989, 20859991, 21709130, 24491799, 27036119, 28819026, 29786798, 30291252, 31559706		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	15378487, 25735316		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29075795, 29670108		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	22142826		★☆☆☆☆ 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, 31223286		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12402157, 12569576, 12696060, 16843104, 19448667, 21165656, 23307074, 25675181, 25897700, 26603525, 27881443, 27881875, 28062671, 28069569, 28410781, 28558031, 28819026, 28953875, 29348807, 29531159, 30044210, 30606771, 30924641, 31068675, 31108370, 31261630, 7630403, 9288775		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	14732695, 18054336, 18362468		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	27407063		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	30667593	Associate	★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	11296231		★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)	Mason type diabetes	BEFREE	11296231		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	22722829, 24115570		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	25675294		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25675294		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25675294	Associate	★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	22386572		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	15207239, 17702016, 21984751		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	23032921		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	30737887		★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	28694195		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	26980735	Stimulate	★☆☆☆☆ Found in Text Mining only
Mucositis	Mucositis	Pubtator	37358854	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10699051, 12070251, 12114483, 13983033, 15706485, 16021471, 16783566, 18792986, 25108505, 25388907, 25599811, 26603346, 26788536, 26956253, 27165009, 27311832, 27342041, 27899622		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	24416428, 26731516, 36121114	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	BEFREE	30741931		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	31535023		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	15312679, 9166831		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	12542485, 34663789, 9166831, 9226152	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	29317678		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15312679		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	22177454		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	31601682		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	12142048, 25897700, 30569106		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10473588, 11709699, 12142048, 12237408, 12237873, 12393287, 12496368, 12501250, 12696060, 15334549, 17052327, 17311001, 17372613, 17603632, 17855048, 23736260, 23868976, 24491799, 25294805, 25525796, 25684946, 25713363, 25797267, 26628108, 26729194, 26972001, 27126562, 27158780, 27477692, 27484627, 27537276, 27733359, 27788148, 28069569, 28831000, 29141249, 29359884, 29530069, 29670108, 29964221, 30029671, 30784909, 30953353, 31068675, 31371781, 31774495, 8552387, 9288775		★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	35173708	Stimulate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	35173708	Stimulate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	16786226		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	30789376	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12501250, 17603632, 23223795		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	17603632, 23223795	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	11962765, 20096957, 21149712, 26367392		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	21984751		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular Diseases	Neuromuscular disease	Pubtator	23776558	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	37358854	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30572788		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12237873, 19138976, 29989005, 31713888		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	10690532		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25404345, 27832201, 31637876		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	31637876, 40428410	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	17178859		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	30254216	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	26679893		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	35565907, 37335694	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31695502		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29050320		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32912307, 36721777	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25082960		★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	16263824		★☆☆☆☆ Found in Text Mining only
Papillary cystadenoma of the epididymis	Papillary cystadenoma of the epididymis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	22386953, 30450190		★☆☆☆☆ Found in Text Mining only
PARIETAL FORAMINA	Parietal Foramina	HPO_DG			★☆☆☆☆ 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
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	31277818		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	32567517	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	31637876		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	31637876	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	10679915, 23728349, 27903646, 27979926, 30262461		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	21080944		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	19218654		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12507906, 15663989, 20859991, 21709130, 24491799, 27036119, 28819026, 29786798, 30291252, 31559706		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	12507906	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	12507906, 31097763, 32203167, 33495313, 33705753	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	15378487, 25735316		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	21110951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Protanomaly	Protanomaly	BEFREE	15101047, 30171668, 30530904		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	29460469		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	22241478, 31298961		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	14535629		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	12972807		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	36047446	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	10602114, 10699051, 10797422, 10906457, 11331617, 12416539, 12566391, 12930888, 14974086, 15207239, 16786226, 17473832, 19350377, 21085895, 21932317, 22133875, 24115570, 24352918, 24381114, 24839169, 25034337, 25073882, 26730956, 28694195, 30892814, 7630403, 9177780, 9677064, 9949198		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	22265015	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	14535629, 29217191		★☆☆☆☆ Found in Text Mining only
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	BEFREE	10602114, 10699051, 10797422, 10906457, 11331617, 12416539, 12566391, 12930888, 14974086, 15207239, 16786226, 17473832, 19350377, 21085895, 21932317, 22133875, 24115570, 24352918, 24381114, 25034337, 25073882, 26730956, 28694195, 30892814, 7630403, 9177780, 9677064, 9949198		★☆☆☆☆ Found in Text Mining only
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	BEFREE	10602114, 10906457, 11331617, 11962765, 12566391, 12930888, 14974086, 15207239, 15706485, 16021471, 16359492, 16783566, 17052327, 17220215, 17253932, 17299436, 17473832, 17855048, 18688873, 19353645, 19533794, 19833603, 20101707, 20125191, 20689175, 20717166, 21984751, 22133875, 22265015, 22426292, 23032921, 23063576, 23165645, 23315884, 23643710, 24115570, 24476420, 25034337, 25108505, 25388907, 25410544, 25712426, 25768348, 25805166, 26486927, 26603346, 26730956, 27165009, 27311832, 27648933, 27964710, 28523540, 29359884, 29383823, 29409755, 29460469, 29506490, 29551561, 29883886, 29944992, 30614040, 30633342, 30635043, 30770747, 30806792, 30892814, 31491690, 31504229, 31566936, 31637876, 31806049, 9166831, 9949198		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	CLINGEN_DG	11331617, 12070251, 12566391, 12930888, 18792986, 9294190		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	LHGDN	12114483, 14974086, 16021471, 17052327, 17855048		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	CLINVAR_DG	15706485, 16359492, 17052327, 18792986, 21932317, 26633545, 26788536		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RUBINSTEIN-TAYBI SYNDROME 1	Rubinstein-Taybi Syndrome	UNIPROT_DG	11331617, 12114483, 12566391, 15706485, 20684013, 24616510, 25388907		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUBINSTEIN-TAYBI SYNDROME 1	Rubinstein-Taybi Syndrome	CLINGEN_DG	11331617, 12070251, 12566391, 12930888, 18792986, 9294190		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUBINSTEIN-TAYBI SYNDROME 1	Rubinstein-Taybi Syndrome	GENOMICS_ENGLAND_DG	18792986, 27311832		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUBINSTEIN-TAYBI SYNDROME 1	Rubinstein-Taybi Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	Rubinstein-Taybi Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rubinstein-Taybi syndrome due to CREBBP mutations	Rubinstein-Taybi Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Sarcoma	Pubtator	37634866	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	39367409	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22198373		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	30789376	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Scoliosis, unspecified	Scoliosis	BEFREE	21932317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senile Plaques	Senile Plaques	BEFREE	22269161		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28611184		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	CTD_human_DG	26551667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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 carcinoma of lung	Lung carcinoma	BEFREE	25735316, 30181244, 31068675		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	24551300, 31699089, 35596192	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPHEROCYTOSIS, HEREDITARY, 2	Spherocytosis	BEFREE	22164220		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	16409551		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11173543, 11935299		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	14734447		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	27158780		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	14734447, 24670651, 28939763, 29511340		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	25151357		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	11173543, 30933315, 36245368	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	31397888		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30029671		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	26598538		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	16598677, 30334186		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29075795, 29670108		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36291668, 37904524	Associate	★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	26956253		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Syringomyelia	Syringomyelia	BEFREE	21932317		★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	39969158	Stimulate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	32567517	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	19223551	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	22142826		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	22386953		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	22142826		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	30069928	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	17942008, 21984751		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30572639, 30606771, 31531205		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30606771, 36826464, 38179762	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36114448	Inhibit	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	21165656, 28751935, 29794741		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	22386572		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25915404, 26729194, 28970362, 31077629, 31223286, 32012118, 35798829, 36495164, 40693457	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	26598538, 28678170		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	34257574	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Vascular ring	Vascular ring	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only