RB1 (RB transcriptional corepressor 1)

Gene

• Entrez ID: 5925
• Gene name: RB transcriptional corepressor 1
• Gene symbol: RB1
• Synonyms (NCBI Gene): OSRC, PPP1R130, RB, p105-Rb, p110-RB1, pRb, pp110
• Chromosome: 13
• Chromosome location: 13q14.2
• Summary: The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophospho

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs3092895	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, missense variant
rs121913295	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs121913296	G>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs121913297	G>A,T	Uncertain-significance, likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant
rs121913298	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs121913305	C>T	Pathogenic	Stop gained, coding sequence variant
rs137853292	C>T	Pathogenic	Missense variant, coding sequence variant
rs137853293	C>T	Pathogenic	Stop gained, coding sequence variant
rs137853294	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs137853295	G>T	Pathogenic	Stop gained, coding sequence variant
rs137853296	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs137853297	T>A	Pathogenic	Stop gained, coding sequence variant
rs142509759	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs143685082	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs145310579	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs373601944	G>A,T	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs376886420	A>C,G	Likely-benign, uncertain-significance, likely-pathogenic	Intron variant
rs398123333	GAATGAGTATGAA>CAC	Pathogenic	Coding sequence variant, frameshift variant
rs483352689	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs483352690	G>A,C	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs587776779	G>-	Pathogenic	Splice donor variant, coding sequence variant
rs587776780	T>C	Pathogenic	Splice donor variant
rs587776781	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776784	AATCTGCTTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776785	TTTATAAAA>-	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs587776786	G>A	Pathogenic	Splice acceptor variant
rs587776787	G>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs587776789	G>A,T	Pathogenic	Splice donor variant
rs587776791	A>G	Pathogenic	Intron variant
rs587778824	->TA	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs587778825	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587778826	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs587778827	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs587778833	C>T	Pathogenic	Stop gained, coding sequence variant
rs587778835	C>T	Pathogenic	Missense variant, coding sequence variant
rs587778836	->TGAT	Pathogenic	Frameshift variant, coding sequence variant
rs587778837	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587778838	G>A	Pathogenic	Splice acceptor variant
rs587778839	T>C	Pathogenic	Splice donor variant
rs587778840	A>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs587778841	TGCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587778842	C>T	Pathogenic	Stop gained, coding sequence variant
rs587778849	A>T	Pathogenic	Stop gained, coding sequence variant
rs587778850	G>A,T	Pathogenic	Splice donor variant
rs587778851	->C	Pathogenic	Frameshift variant, coding sequence variant
rs587778854	->T	Pathogenic	Frameshift variant, coding sequence variant
rs587778858	G>T	Pathogenic	Stop gained, coding sequence variant
rs587778859	G>A	Pathogenic	Missense variant, coding sequence variant
rs587778860	G>A,C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs587778861	T>A,C	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs587778862	AG>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs587778864	C>T	Pathogenic	Stop gained, coding sequence variant
rs587778865	T>A	Pathogenic	Stop gained, coding sequence variant
rs587778866	A>G	Pathogenic	Missense variant, coding sequence variant
rs587778867	A>T	Pathogenic	Splice acceptor variant
rs587778868	G>T	Pathogenic	Stop gained, coding sequence variant
rs587778870	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs587778871	G>A,C	Likely-pathogenic, pathogenic	Intron variant
rs587781257	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs748094394	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs750136284	T>A,C	Likely-pathogenic, likely-benign	Synonymous variant, stop gained, coding sequence variant
rs764754259	G>A,C	Pathogenic	Splice donor variant
rs768305224	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs774744607	T>A,C,G	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs794727199	G>A	Pathogenic	Splice acceptor variant
rs794727372	C>A,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs794727481	G>A	Pathogenic	Coding sequence variant, stop gained
rs878853949	C>T	Pathogenic	Coding sequence variant, stop gained
rs886042249	G>A	Pathogenic, uncertain-significance	Intron variant
rs886042357	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs886042935	C>T	Pathogenic	Coding sequence variant, stop gained
rs886043313	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503067	G>T	Pathogenic	Coding sequence variant, stop gained
rs1060503075	CCTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503088	T>G	Pathogenic	Intron variant
rs1064795296	T>-	Pathogenic	Splice donor variant
rs1064795438	AGATG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1131690842	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690843	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131690844	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690847	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690849	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690857	A>G	Pathogenic	Coding sequence variant, missense variant
rs1131690858	GAGT>-	Pathogenic	Intron variant, splice donor variant
rs1131690862	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1131690863	C>T	Pathogenic	Coding sequence variant, stop gained
rs1131690864	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1131690865	C>T	Pathogenic	Coding sequence variant, stop gained
rs1131690866	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690867	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690868	TATATTTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690871	C>-	Pathogenic	Coding sequence variant, stop gained
rs1131690874	G>T	Pathogenic	Coding sequence variant, stop gained
rs1131690878	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690880	G>T	Pathogenic	Splice donor variant
rs1131690881	G>A,T	Pathogenic, likely-pathogenic	Intron variant
rs1131690882	G>A,C	Pathogenic, likely-pathogenic	Splice donor variant
rs1131690885	TCTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690887	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690890	TA>ATC	Pathogenic	Coding sequence variant, frameshift variant
rs1131690891	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131690893	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690894	AATA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690895	->T	Likely-pathogenic	Splice donor variant
rs1131690896	GGCAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690899	T>G	Pathogenic	Splice donor variant
rs1131690902	G>A	Pathogenic	Splice donor variant
rs1131690903	G>T	Pathogenic	Coding sequence variant, stop gained
rs1131690904	G>T	Pathogenic	Coding sequence variant, stop gained
rs1131690905	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690906	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs1131690907	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1131690908	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs1131690912	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690915	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555282775	A>T	Pathogenic	Stop gained, coding sequence variant
rs1555282811	A>T	Pathogenic	Intron variant
rs1555283482	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555283670	->ATTAG	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1555284956	G>A,C	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs1555294600	->AA	Pathogenic	Coding sequence variant, frameshift variant
rs1555294626	AAGG>TTT	Pathogenic	Coding sequence variant, frameshift variant
rs1555294634	AGGTGTGTG>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1555294636	T>C	Likely-pathogenic	Splice donor variant
rs1555295354	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1566186087	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1566186125	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566186836	G>A	Pathogenic	Splice acceptor variant
rs1566186840	A>T	Pathogenic	Stop gained, coding sequence variant
rs1566186889	->TGAT	Pathogenic	Stop gained, coding sequence variant
rs1566187856	G>A	Likely-pathogenic	Splice donor variant
rs1566192530	AACAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566192557	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566233014	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1566233076	C>T	Pathogenic	Stop gained, coding sequence variant
rs1566234123	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1566235470	C>T	Pathogenic	Stop gained, coding sequence variant
rs1566235515	T>A,C	Likely-pathogenic, pathogenic	Splice donor variant
rs1566237098	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1566240909	CT>-	Pathogenic	Stop gained, coding sequence variant
rs1593414337	G>A	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1593434175	ATATT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593438023	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593443514	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593445096	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1593445220	TAATATAG>-	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1593445246	G>T	Pathogenic	Stop gained, coding sequence variant
rs1593529868	A>G	Likely-pathogenic	Splice acceptor variant
rs1593532084	TTAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593532101	->C	Pathogenic	Splice donor variant
rs1593534586	CTCCGGCTAAATACACTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593538130	A>G	Pathogenic	Splice acceptor variant
rs1593538155	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1593538175	ATTCAAAA>C	Pathogenic	Coding sequence variant, frameshift variant
rs1593538220	C>T	Pathogenic	Stop gained, coding sequence variant
rs1593539225	C>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs1593539366	C>G	Pathogenic	Stop gained, coding sequence variant
rs1593539386	->GCCCTTACAAGTTTCCTAGTTC	Pathogenic	Stop gained, inframe insertion, coding sequence variant
rs1593539435	GGAACATCTA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593539493	C>A	Pathogenic	Stop gained, coding sequence variant
rs1593539538	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1593544647	GA>-	Pathogenic	Coding sequence variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001840	hsa-miR-106a-5p	Microarray	19175831
MIRT003587	hsa-miR-335-5p	Luciferase reporter assay, Western blot	20713524
MIRT003587	hsa-miR-335-5p	Luciferase reporter assay, Western blot	20713524
MIRT003425	hsa-miR-23b-3p	flow, Microarray	20133741
MIRT003213	hsa-miR-26a-5p	GFP reporter assay, Luciferase reporter assay, Western blot	20080666
MIRT001840	hsa-miR-106a-5p	immunohistochemistry, Microarray	19175831
MIRT004664	hsa-miR-106b-5p	immunohistochemistry, Microarray	19175831
MIRT004749	hsa-miR-675-5p	Luciferase reporter assay, qRT-PCR	19926638
MIRT001840	hsa-miR-106a-5p	Immunohistochemistry, Microarray, Western blot	20643754
MIRT001840	hsa-miR-106a-5p	and lung tumor samples"	16461460
MIRT005850	hsa-miR-17-5p	Luciferase reporter assay	21283765
MIRT005857	hsa-miR-20a-5p	Luciferase reporter assay	21283765
MIRT004664	hsa-miR-106b-5p	Luciferase reporter assay	21283765
MIRT001840	hsa-miR-106a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20889678
MIRT006435	hsa-miR-192-5p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	21511813
MIRT006435	hsa-miR-192-5p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	21511813
MIRT006503	hsa-miR-132-3p	Luciferase reporter assay, Western blot	21329664
MIRT006503	hsa-miR-132-3p	Luciferase reporter assay, Western blot	21329664
MIRT006504	hsa-miR-212-3p	Luciferase reporter assay, Western blot	21329664
MIRT006504	hsa-miR-212-3p	Luciferase reporter assay, Western blot	21329664
MIRT006435	hsa-miR-192-5p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	21511813
MIRT006503	hsa-miR-132-3p	Luciferase reporter assay, Western blot	21329664
MIRT006503	hsa-miR-132-3p	Luciferase reporter assay, Western blot	21329664
MIRT006504	hsa-miR-212-3p	Luciferase reporter assay, Western blot	21329664
MIRT006504	hsa-miR-212-3p	Luciferase reporter assay, Western blot	21329664
MIRT003587	hsa-miR-335-5p	qRT-PCR, Western blot	22886530
MIRT004664	hsa-miR-106b-5p	Luciferase reporter assay, qRT-PCR, Western blot	21819631
MIRT003213	hsa-miR-26a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23108995
MIRT003213	hsa-miR-26a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23108995
MIRT020177	hsa-miR-130b-3p	Sequencing	20371350
MIRT004664	hsa-miR-106b-5p	Microarray	17242205
MIRT006503	hsa-miR-132-3p	Reporter assay;Western blot;qRT-PCR	21329664
MIRT024341	hsa-miR-215-5p	Microarray	19074876
MIRT006504	hsa-miR-212-3p	Reporter assay;Western blot;qRT-PCR	21329664
MIRT006435	hsa-miR-192-5p	Microarray	19074876
MIRT001840	hsa-miR-106a-5p	Reporter assay	16461460
MIRT028033	hsa-miR-93-5p	Sequencing	20371350
MIRT030738	hsa-miR-21-5p	Microarray	18591254
MIRT048653	hsa-miR-99a-5p	CLASH	23622248
MIRT048586	hsa-miR-100-5p	CLASH	23622248
MIRT045442	hsa-miR-149-5p	CLASH	23622248
MIRT001840	hsa-miR-106a-5p	Microarray	23807165
MIRT001840	hsa-miR-106a-5p	Immunohistochemistry, qRT-PCR	18996365
MIRT024341	hsa-miR-215-5p	Immunofluorescence, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23981575
MIRT024341	hsa-miR-215-5p	Immunofluorescence, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23981575
MIRT054352	hsa-miR-221-3p	Luciferase reporter assay, QRTPCR, Western blot	23630541
MIRT437472	hsa-miR-26b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24027266
MIRT437472	hsa-miR-26b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24027266
MIRT006435	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	24012720
MIRT068755	hsa-miR-519a-3p	qRT-PCR, Luciferase reporter assay, Western blot	24752803
MIRT068755	hsa-miR-519a-3p	qRT-PCR, Luciferase reporter assay, Western blot	24752803
MIRT068754	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT005850	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT004664	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT068752	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT028033	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT001840	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT005857	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT068749	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT068755	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT068753	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT068751	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT068761	hsa-miR-4318	PAR-CLIP	21572407
MIRT068756	hsa-miR-892a	PAR-CLIP	21572407
MIRT554909	hsa-miR-1178-5p	PAR-CLIP	21572407
MIRT554908	hsa-miR-1182	PAR-CLIP	21572407
MIRT068763	hsa-miR-3614-5p	PAR-CLIP	21572407
MIRT554907	hsa-miR-494-3p	PAR-CLIP	21572407
MIRT554906	hsa-miR-3909	PAR-CLIP	21572407
MIRT554905	hsa-miR-6852-3p	PAR-CLIP	21572407
MIRT068760	hsa-miR-3152-3p	PAR-CLIP	21572407
MIRT554904	hsa-miR-1258	PAR-CLIP	21572407
MIRT068765	hsa-miR-4693-5p	PAR-CLIP	21572407
MIRT068762	hsa-miR-4325	PAR-CLIP	21572407
MIRT554903	hsa-miR-450b-3p	PAR-CLIP	21572407
MIRT554902	hsa-miR-769-3p	PAR-CLIP	21572407
MIRT554901	hsa-miR-6728-5p	PAR-CLIP	21572407
MIRT554900	hsa-miR-5089-5p	PAR-CLIP	21572407
MIRT068766	hsa-miR-6513-5p	PAR-CLIP	21572407
MIRT731073	hsa-miR-141-3p	5.0	25241899
MIRT731073	hsa-miR-141-3p	5.0	25241899
MIRT731073	hsa-miR-141-3p	5.0	25241899
MIRT731073	hsa-miR-141-3p	5.0	25241899
MIRT731073	hsa-miR-141-3p	5.0	25241899
MIRT731073	hsa-miR-141-3p	5.0	25241899
MIRT004664	hsa-miR-106b-5p	Luciferase reporter assay, Microarray, Western blot	24292682
MIRT004664	hsa-miR-106b-5p	Luciferase reporter assay, Microarray, Western blot	24292682
MIRT006503	hsa-miR-132-3p	Microarray, RNA-seq	31426562
MIRT735221	hsa-miR-181a-3p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), qRT-PCR, Immunocytochemistry (ICC), ELISA	32591511
MIRT068749	hsa-miR-20b-5p	Luciferase reporter assay, Western blotting, qRT-PCR, In situ hybridization	32622332
MIRT068754	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT005850	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT004664	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT068752	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT028033	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT001840	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT005857	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT068749	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT068755	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT068753	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT068751	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT068761	hsa-miR-4318	PAR-CLIP	21572407
MIRT068756	hsa-miR-892a	PAR-CLIP	21572407
MIRT554909	hsa-miR-1178-5p	PAR-CLIP	21572407
MIRT554908	hsa-miR-1182	PAR-CLIP	21572407
MIRT068763	hsa-miR-3614-5p	PAR-CLIP	21572407
MIRT554907	hsa-miR-494-3p	PAR-CLIP	21572407
MIRT554906	hsa-miR-3909	PAR-CLIP	21572407
MIRT554905	hsa-miR-6852-3p	PAR-CLIP	21572407
MIRT068760	hsa-miR-3152-3p	PAR-CLIP	21572407
MIRT554904	hsa-miR-1258	PAR-CLIP	21572407
MIRT068765	hsa-miR-4693-5p	PAR-CLIP	21572407
MIRT068762	hsa-miR-4325	PAR-CLIP	21572407
MIRT554903	hsa-miR-450b-3p	PAR-CLIP	21572407
MIRT554902	hsa-miR-769-3p	PAR-CLIP	21572407
MIRT554901	hsa-miR-6728-5p	PAR-CLIP	21572407
MIRT554900	hsa-miR-5089-5p	PAR-CLIP	21572407
MIRT068766	hsa-miR-6513-5p	PAR-CLIP	21572407
MIRT006435	hsa-miR-192-5p	Luciferase reporter assay, Immunoprecipitaion (IP), CLIP-seq, Flow cytometry	35969010
MIRT1293359	hsa-miR-1245	CLIP-seq
MIRT1293360	hsa-miR-1257	CLIP-seq
MIRT1293361	hsa-miR-1273d	CLIP-seq
MIRT1293362	hsa-miR-128	CLIP-seq
MIRT1293363	hsa-miR-1283	CLIP-seq
MIRT1293364	hsa-miR-129-5p	CLIP-seq
MIRT1293365	hsa-miR-155	CLIP-seq
MIRT1293366	hsa-miR-221	CLIP-seq
MIRT1293367	hsa-miR-222	CLIP-seq
MIRT1293368	hsa-miR-298	CLIP-seq
MIRT1293369	hsa-miR-3119	CLIP-seq
MIRT1293370	hsa-miR-3128	CLIP-seq
MIRT1293371	hsa-miR-3146	CLIP-seq
MIRT1293372	hsa-miR-3177-5p	CLIP-seq
MIRT1293373	hsa-miR-3187-3p	CLIP-seq
MIRT1293374	hsa-miR-340	CLIP-seq
MIRT1293375	hsa-miR-365	CLIP-seq
MIRT1293376	hsa-miR-3678-3p	CLIP-seq
MIRT1293377	hsa-miR-3921	CLIP-seq
MIRT1293378	hsa-miR-3973	CLIP-seq
MIRT1293379	hsa-miR-4257	CLIP-seq
MIRT1293380	hsa-miR-4263	CLIP-seq
MIRT1293381	hsa-miR-4276	CLIP-seq
MIRT1293382	hsa-miR-4282	CLIP-seq
MIRT1293383	hsa-miR-4427	CLIP-seq
MIRT1293384	hsa-miR-4474-3p	CLIP-seq
MIRT1293385	hsa-miR-450b-5p	CLIP-seq
MIRT1293386	hsa-miR-4529-5p	CLIP-seq
MIRT1293387	hsa-miR-4653-5p	CLIP-seq
MIRT1293388	hsa-miR-4670-3p	CLIP-seq
MIRT1293389	hsa-miR-4672	CLIP-seq
MIRT1293390	hsa-miR-4677-3p	CLIP-seq
MIRT1293391	hsa-miR-4679	CLIP-seq
MIRT1293392	hsa-miR-4680-3p	CLIP-seq
MIRT1293393	hsa-miR-4699-5p	CLIP-seq
MIRT1293394	hsa-miR-4704-3p	CLIP-seq
MIRT1293395	hsa-miR-4720-5p	CLIP-seq
MIRT1293396	hsa-miR-4725-5p	CLIP-seq
MIRT1293397	hsa-miR-4735-5p	CLIP-seq
MIRT1293398	hsa-miR-4775	CLIP-seq
MIRT1293399	hsa-miR-4780	CLIP-seq
MIRT1293400	hsa-miR-4789-5p	CLIP-seq
MIRT1293401	hsa-miR-4790-3p	CLIP-seq
MIRT1293402	hsa-miR-4799-3p	CLIP-seq
MIRT1293403	hsa-miR-494	CLIP-seq
MIRT1293404	hsa-miR-499-3p	CLIP-seq
MIRT1293405	hsa-miR-499a-3p	CLIP-seq
MIRT1293406	hsa-miR-504	CLIP-seq
MIRT1293407	hsa-miR-507	CLIP-seq
MIRT1293408	hsa-miR-520a-5p	CLIP-seq
MIRT1293409	hsa-miR-525-5p	CLIP-seq
MIRT1293410	hsa-miR-548v	CLIP-seq
MIRT1293411	hsa-miR-557	CLIP-seq
MIRT1293412	hsa-miR-576-5p	CLIP-seq
MIRT1293413	hsa-miR-590-3p	CLIP-seq
MIRT1293414	hsa-miR-663b	CLIP-seq
MIRT1293415	hsa-miR-889	CLIP-seq
MIRT1552966	hsa-miR-3942-5p	CLIP-seq
MIRT1552967	hsa-miR-4422	CLIP-seq
MIRT1552968	hsa-miR-4703-5p	CLIP-seq
MIRT2087155	hsa-miR-1296	CLIP-seq
MIRT2087156	hsa-miR-1912	CLIP-seq
MIRT2087157	hsa-miR-323b-3p	CLIP-seq
MIRT2087158	hsa-miR-3908	CLIP-seq
MIRT1552966	hsa-miR-3942-5p	CLIP-seq
MIRT1293382	hsa-miR-4282	CLIP-seq
MIRT2087159	hsa-miR-4328	CLIP-seq
MIRT1552967	hsa-miR-4422	CLIP-seq
MIRT2087160	hsa-miR-4436a	CLIP-seq
MIRT2087161	hsa-miR-4512	CLIP-seq
MIRT1293390	hsa-miR-4677-3p	CLIP-seq
MIRT1293391	hsa-miR-4679	CLIP-seq
MIRT1552968	hsa-miR-4703-5p	CLIP-seq
MIRT2087162	hsa-miR-4766-3p	CLIP-seq
MIRT1293398	hsa-miR-4775	CLIP-seq
MIRT2087163	hsa-miR-4803	CLIP-seq
MIRT1293403	hsa-miR-494	CLIP-seq
MIRT1293408	hsa-miR-520a-5p	CLIP-seq
MIRT1293409	hsa-miR-525-5p	CLIP-seq
MIRT2087164	hsa-miR-550b	CLIP-seq
MIRT1293412	hsa-miR-576-5p	CLIP-seq
MIRT2087165	hsa-miR-582-5p	CLIP-seq
MIRT1293413	hsa-miR-590-3p	CLIP-seq
MIRT2087166	hsa-miR-711	CLIP-seq
MIRT2087167	hsa-miR-802	CLIP-seq
MIRT2311988	hsa-miR-1197	CLIP-seq
MIRT1293362	hsa-miR-128	CLIP-seq
MIRT2087155	hsa-miR-1296	CLIP-seq
MIRT2311989	hsa-miR-1297	CLIP-seq
MIRT2087156	hsa-miR-1912	CLIP-seq
MIRT2311990	hsa-miR-26a	CLIP-seq
MIRT2311991	hsa-miR-26b	CLIP-seq
MIRT2311992	hsa-miR-3120-3p	CLIP-seq
MIRT2311993	hsa-miR-3153	CLIP-seq
MIRT2311994	hsa-miR-3156-3p	CLIP-seq
MIRT1293372	hsa-miR-3177-5p	CLIP-seq
MIRT2311995	hsa-miR-3180-5p	CLIP-seq
MIRT2311996	hsa-miR-33a	CLIP-seq
MIRT2311997	hsa-miR-33b	CLIP-seq
MIRT2311998	hsa-miR-361-5p	CLIP-seq
MIRT2311999	hsa-miR-3919	CLIP-seq
MIRT1293377	hsa-miR-3921	CLIP-seq
MIRT1293379	hsa-miR-4257	CLIP-seq
MIRT1293382	hsa-miR-4282	CLIP-seq
MIRT2312000	hsa-miR-4301	CLIP-seq
MIRT1552967	hsa-miR-4422	CLIP-seq
MIRT2087160	hsa-miR-4436a	CLIP-seq
MIRT2312001	hsa-miR-4465	CLIP-seq
MIRT2087161	hsa-miR-4512	CLIP-seq
MIRT1293387	hsa-miR-4653-5p	CLIP-seq
MIRT2312002	hsa-miR-4662a-3p	CLIP-seq
MIRT1293388	hsa-miR-4670-3p	CLIP-seq
MIRT1293389	hsa-miR-4672	CLIP-seq
MIRT1293390	hsa-miR-4677-3p	CLIP-seq
MIRT1293391	hsa-miR-4679	CLIP-seq
MIRT1293394	hsa-miR-4704-3p	CLIP-seq
MIRT1293398	hsa-miR-4775	CLIP-seq
MIRT1293400	hsa-miR-4789-5p	CLIP-seq
MIRT1293403	hsa-miR-494	CLIP-seq
MIRT2312003	hsa-miR-498	CLIP-seq
MIRT1293408	hsa-miR-520a-5p	CLIP-seq
MIRT1293409	hsa-miR-525-5p	CLIP-seq
MIRT2312004	hsa-miR-532-3p	CLIP-seq
MIRT2087164	hsa-miR-550b	CLIP-seq
MIRT2312005	hsa-miR-570	CLIP-seq
MIRT1293413	hsa-miR-590-3p	CLIP-seq
MIRT2312006	hsa-miR-7	CLIP-seq
MIRT2087166	hsa-miR-711	CLIP-seq
MIRT1293399	hsa-miR-4780	CLIP-seq
MIRT2432464	hsa-miR-216a	CLIP-seq
MIRT2432465	hsa-miR-3200-5p	CLIP-seq
MIRT2432466	hsa-miR-3653	CLIP-seq
MIRT2432467	hsa-miR-3658	CLIP-seq
MIRT1293377	hsa-miR-3921	CLIP-seq
MIRT1293387	hsa-miR-4653-5p	CLIP-seq
MIRT1293388	hsa-miR-4670-3p	CLIP-seq
MIRT1293415	hsa-miR-889	CLIP-seq
MIRT2087155	hsa-miR-1296	CLIP-seq
MIRT2311994	hsa-miR-3156-3p	CLIP-seq
MIRT2312000	hsa-miR-4301	CLIP-seq
MIRT2087161	hsa-miR-4512	CLIP-seq
MIRT2087164	hsa-miR-550b	CLIP-seq
MIRT2087155	hsa-miR-1296	CLIP-seq
MIRT2311994	hsa-miR-3156-3p	CLIP-seq
MIRT2312000	hsa-miR-4301	CLIP-seq
MIRT2087161	hsa-miR-4512	CLIP-seq
MIRT2087164	hsa-miR-550b	CLIP-seq
MIRT2608358	hsa-miR-1269	CLIP-seq
MIRT2608359	hsa-miR-1269b	CLIP-seq
MIRT2608360	hsa-miR-127-5p	CLIP-seq
MIRT2608361	hsa-miR-1276	CLIP-seq
MIRT2608362	hsa-miR-129-3p	CLIP-seq
MIRT2087155	hsa-miR-1296	CLIP-seq
MIRT2311989	hsa-miR-1297	CLIP-seq
MIRT2608363	hsa-miR-1301	CLIP-seq
MIRT2087156	hsa-miR-1912	CLIP-seq
MIRT2608364	hsa-miR-192	CLIP-seq
MIRT2608365	hsa-miR-2054	CLIP-seq
MIRT2608366	hsa-miR-215	CLIP-seq
MIRT2311990	hsa-miR-26a	CLIP-seq
MIRT2311991	hsa-miR-26b	CLIP-seq
MIRT2608367	hsa-miR-297	CLIP-seq
MIRT1293368	hsa-miR-298	CLIP-seq
MIRT2311992	hsa-miR-3120-3p	CLIP-seq
MIRT2608368	hsa-miR-3125	CLIP-seq
MIRT2608369	hsa-miR-3130-3p	CLIP-seq
MIRT2608370	hsa-miR-3140-3p	CLIP-seq
MIRT2608371	hsa-miR-3143	CLIP-seq
MIRT2608372	hsa-miR-3145-3p	CLIP-seq
MIRT2608373	hsa-miR-3149	CLIP-seq
MIRT2311994	hsa-miR-3156-3p	CLIP-seq
MIRT2608374	hsa-miR-3160-3p	CLIP-seq
MIRT2608375	hsa-miR-3175	CLIP-seq
MIRT2608376	hsa-miR-3667-5p	CLIP-seq
MIRT2608377	hsa-miR-377	CLIP-seq
MIRT2608378	hsa-miR-3916	CLIP-seq
MIRT2608379	hsa-miR-4261	CLIP-seq
MIRT1293380	hsa-miR-4263	CLIP-seq
MIRT2312000	hsa-miR-4301	CLIP-seq
MIRT1552967	hsa-miR-4422	CLIP-seq
MIRT2608380	hsa-miR-4434	CLIP-seq
MIRT2312001	hsa-miR-4465	CLIP-seq
MIRT2608381	hsa-miR-4496	CLIP-seq
MIRT1293385	hsa-miR-450b-5p	CLIP-seq
MIRT2087161	hsa-miR-4512	CLIP-seq
MIRT2608382	hsa-miR-4516	CLIP-seq
MIRT2608383	hsa-miR-4520b-3p	CLIP-seq
MIRT2608384	hsa-miR-4529-3p	CLIP-seq
MIRT2608385	hsa-miR-4637	CLIP-seq
MIRT2608386	hsa-miR-4660	CLIP-seq
MIRT2312002	hsa-miR-4662a-3p	CLIP-seq
MIRT1293393	hsa-miR-4699-5p	CLIP-seq
MIRT1293396	hsa-miR-4725-5p	CLIP-seq
MIRT2608387	hsa-miR-4728-5p	CLIP-seq
MIRT2608388	hsa-miR-4731-3p	CLIP-seq
MIRT1293398	hsa-miR-4775	CLIP-seq
MIRT1293399	hsa-miR-4780	CLIP-seq
MIRT2608389	hsa-miR-4793-3p	CLIP-seq
MIRT2608390	hsa-miR-4801	CLIP-seq
MIRT2312003	hsa-miR-498	CLIP-seq
MIRT1293406	hsa-miR-504	CLIP-seq
MIRT2608391	hsa-miR-5047	CLIP-seq
MIRT1293407	hsa-miR-507	CLIP-seq
MIRT2608392	hsa-miR-543	CLIP-seq
MIRT2608393	hsa-miR-548ac	CLIP-seq
MIRT2608394	hsa-miR-548ae	CLIP-seq
MIRT2608395	hsa-miR-548aj	CLIP-seq
MIRT2608396	hsa-miR-548am	CLIP-seq
MIRT2608397	hsa-miR-548d-3p	CLIP-seq
MIRT2608398	hsa-miR-548p	CLIP-seq
MIRT2608399	hsa-miR-548x	CLIP-seq
MIRT2608400	hsa-miR-548z	CLIP-seq
MIRT2087164	hsa-miR-550b	CLIP-seq
MIRT1293411	hsa-miR-557	CLIP-seq
MIRT1293412	hsa-miR-576-5p	CLIP-seq
MIRT1293413	hsa-miR-590-3p	CLIP-seq
MIRT2608401	hsa-miR-664	CLIP-seq
MIRT2312006	hsa-miR-7	CLIP-seq
MIRT2608358	hsa-miR-1269	CLIP-seq
MIRT2608359	hsa-miR-1269b	CLIP-seq
MIRT2689374	hsa-miR-1272	CLIP-seq
MIRT2608360	hsa-miR-127-5p	CLIP-seq
MIRT2689375	hsa-miR-1289	CLIP-seq
MIRT2608362	hsa-miR-129-3p	CLIP-seq
MIRT2087155	hsa-miR-1296	CLIP-seq
MIRT2311989	hsa-miR-1297	CLIP-seq
MIRT2608363	hsa-miR-1301	CLIP-seq
MIRT2087156	hsa-miR-1912	CLIP-seq
MIRT2608364	hsa-miR-192	CLIP-seq
MIRT2689376	hsa-miR-203	CLIP-seq
MIRT2608365	hsa-miR-2054	CLIP-seq
MIRT2608366	hsa-miR-215	CLIP-seq
MIRT2311990	hsa-miR-26a	CLIP-seq
MIRT2311991	hsa-miR-26b	CLIP-seq
MIRT2608367	hsa-miR-297	CLIP-seq
MIRT1293368	hsa-miR-298	CLIP-seq
MIRT2608369	hsa-miR-3130-3p	CLIP-seq
MIRT2608371	hsa-miR-3143	CLIP-seq
MIRT2608372	hsa-miR-3145-3p	CLIP-seq
MIRT2608373	hsa-miR-3149	CLIP-seq
MIRT2311994	hsa-miR-3156-3p	CLIP-seq
MIRT2608375	hsa-miR-3175	CLIP-seq
MIRT2689377	hsa-miR-3198	CLIP-seq
MIRT2608376	hsa-miR-3667-5p	CLIP-seq
MIRT2608377	hsa-miR-377	CLIP-seq
MIRT1293380	hsa-miR-4263	CLIP-seq
MIRT2689378	hsa-miR-4294	CLIP-seq
MIRT2312000	hsa-miR-4301	CLIP-seq
MIRT2689379	hsa-miR-4309	CLIP-seq
MIRT2608380	hsa-miR-4434	CLIP-seq
MIRT2312001	hsa-miR-4465	CLIP-seq
MIRT2087161	hsa-miR-4512	CLIP-seq
MIRT2608382	hsa-miR-4516	CLIP-seq
MIRT2608383	hsa-miR-4520b-3p	CLIP-seq
MIRT2608384	hsa-miR-4529-3p	CLIP-seq
MIRT2608385	hsa-miR-4637	CLIP-seq
MIRT2608386	hsa-miR-4660	CLIP-seq
MIRT2312002	hsa-miR-4662a-3p	CLIP-seq
MIRT2689380	hsa-miR-4694-3p	CLIP-seq
MIRT1293396	hsa-miR-4725-5p	CLIP-seq
MIRT2608387	hsa-miR-4728-5p	CLIP-seq
MIRT2608388	hsa-miR-4731-3p	CLIP-seq
MIRT1293398	hsa-miR-4775	CLIP-seq
MIRT1293399	hsa-miR-4780	CLIP-seq
MIRT2608389	hsa-miR-4793-3p	CLIP-seq
MIRT2608390	hsa-miR-4801	CLIP-seq
MIRT2312003	hsa-miR-498	CLIP-seq
MIRT1293406	hsa-miR-504	CLIP-seq
MIRT2608391	hsa-miR-5047	CLIP-seq
MIRT2608392	hsa-miR-543	CLIP-seq
MIRT2608393	hsa-miR-548ac	CLIP-seq
MIRT2608394	hsa-miR-548ae	CLIP-seq
MIRT2608395	hsa-miR-548aj	CLIP-seq
MIRT2608396	hsa-miR-548am	CLIP-seq
MIRT2608397	hsa-miR-548d-3p	CLIP-seq
MIRT2608398	hsa-miR-548p	CLIP-seq
MIRT2608399	hsa-miR-548x	CLIP-seq
MIRT2608400	hsa-miR-548z	CLIP-seq
MIRT2087164	hsa-miR-550b	CLIP-seq
MIRT1293412	hsa-miR-576-5p	CLIP-seq
MIRT1293413	hsa-miR-590-3p	CLIP-seq
MIRT2608401	hsa-miR-664	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BDP1	Unknown	12734418
CTNNB1	Repression	16628468
DNMT1	Repression	17934516
E2F1	Activation	8264596
KAT2B	Activation	19525977
PAX5	Unknown	10197586
RB1	Repression	8264596
RB1CC1	Activation	12095676
RB1CC1	Unknown	14533007;20614030
TP53	Unknown	8119988
UHRF1	Activation	16007129

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	19149898
GO:0000785	Component	Chromatin	IBA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0001558	Process	Regulation of cell growth	IEA
GO:0001894	Process	Tissue homeostasis	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0003180	Process	Aortic valve morphogenesis	IEA
GO:0003180	Process	Aortic valve morphogenesis	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003714	Function	Transcription corepressor activity	TAS	19149898
GO:0005515	Function	Protein binding	IPI	1331501, 1870208, 2138977, 2153075, 2162480, 2189724, 7503932, 7592647, 7651420, 7664264, 7791904, 7890747, 7923370, 8756624, 9067421, 9395244, 9448006, 9468139, 9468140, 9608663, 9697699, 9858607, 9881977, 10613832, 10779361, 10783144, 10944455, 11073990, 11268000, 11571652, 12037672
GO:0005634	Component	Nucleus	IDA	1531329, 17540172
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	2730637
GO:0005634	Component	Nucleus	TAS	3657987
GO:0005654	Component	Nucleoplasm	IDA	8245034
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	TAS	19149898
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	1531329
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	2730637
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006469	Process	Negative regulation of protein kinase activity	IPI	9858607
GO:0006915	Process	Apoptotic process	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007265	Process	Ras protein signal transduction	IEP	9054499
GO:0007283	Process	Spermatogenesis	IEA
GO:0007346	Process	Regulation of mitotic cell cycle	IEA
GO:0007346	Process	Regulation of mitotic cell cycle	IMP	20551165
GO:0008024	Component	Cyclin/CDK positive transcription elongation factor complex	IDA	12037672
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IMP	25100735
GO:0014009	Process	Glial cell proliferation	IEA
GO:0016514	Component	SWI/SNF complex	TAS	19149898
GO:0016605	Component	PML body	IDA	9448006
GO:0019899	Function	Enzyme binding	IEA
GO:0019900	Function	Kinase binding	IDA	16286473
GO:0030154	Process	Cell differentiation	IBA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030308	Process	Negative regulation of cell growth	IEA
GO:0030308	Process	Negative regulation of cell growth	ISS
GO:0031134	Process	Sister chromatid biorientation	IMP	20551165
GO:0031175	Process	Neuron projection development	IBA
GO:0031175	Process	Neuron projection development	IEA
GO:0031507	Process	Heterochromatin formation	IDA	17540172
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	10944455
GO:0032502	Process	Developmental process	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0034088	Process	Maintenance of mitotic sister chromatid cohesion	IMP	20551165
GO:0034349	Process	Glial cell apoptotic process	IEA
GO:0035189	Component	Rb-E2F complex	IBA
GO:0035189	Component	Rb-E2F complex	IDA	8245034
GO:0035189	Component	Rb-E2F complex	IEA
GO:0035189	Component	Rb-E2F complex	IPI	16360038
GO:0035189	Component	Rb-E2F complex	ISS
GO:0035189	Component	Rb-E2F complex	TAS	19149898
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0042551	Process	Neuron maturation	IEA
GO:0042802	Function	Identical protein binding	IPI	8288605, 16360038
GO:0043353	Process	Enucleate erythrocyte differentiation	IEA
GO:0043550	Process	Regulation of lipid kinase activity	IDA	16286473
GO:0045445	Process	Myoblast differentiation	IMP	15541338
GO:0045651	Process	Positive regulation of macrophage differentiation	IEA
GO:0045786	Process	Negative regulation of cell cycle	IEA
GO:0045786	Process	Negative regulation of cell cycle	IEA
GO:0045786	Process	Negative regulation of cell cycle	ISS	24027266
GO:0045842	Process	Positive regulation of mitotic metaphase/anaphase transition	IMP	20551165
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	10783144, 12065415, 19223331
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	17540172
GO:0045892	Process	Negative regulation of DNA-templated transcription	TAS	19149898
GO:0045930	Process	Negative regulation of mitotic cell cycle	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048565	Process	Digestive tract development	IEA
GO:0048667	Process	Cell morphogenesis involved in neuron differentiation	IBA
GO:0048667	Process	Cell morphogenesis involved in neuron differentiation	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050728	Process	Negative regulation of inflammatory response	ISS
GO:0051146	Process	Striated muscle cell differentiation	IEA
GO:0051219	Function	Phosphoprotein binding	IPI	16360038
GO:0051276	Process	Chromosome organization	IMP	20551165
GO:0051301	Process	Cell division	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	TAS	19149898
GO:0060090	Function	Molecular adaptor activity	EXP	16360038
GO:0060253	Process	Negative regulation of glial cell proliferation	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061676	Function	Importin-alpha family protein binding	IPI	12695505
GO:0061793	Component	Chromatin lock complex	IPI	17540172
GO:0071459	Process	Protein localization to chromosome, centromeric region	IMP	20551165
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0090230	Process	Regulation of centromere complex assembly	TAS	20551165
GO:0097284	Process	Hepatocyte apoptotic process	IEA
GO:0097718	Function	Disordered domain specific binding	IPI	8245034
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	19417128
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	19223331
GO:1903055	Process	Positive regulation of extracellular matrix organization	IEA
GO:1903055	Process	Positive regulation of extracellular matrix organization	ISS
GO:1903944	Process	Negative regulation of hepatocyte apoptotic process	IEA
GO:1904028	Process	Positive regulation of collagen fibril organization	IEA
GO:1904028	Process	Positive regulation of collagen fibril organization	ISS
GO:1904761	Process	Negative regulation of myofibroblast differentiation	IEA
GO:1904761	Process	Negative regulation of myofibroblast differentiation	ISS
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	IEA
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IBA
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IEA
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	TAS	19149898
GO:2000679	Process	Positive regulation of transcription regulatory region DNA binding	IDA	25100735
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	IEA
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	ISS	24027266

Other IDs

• MIM: 614041
• HGNC: 9884
• e!Ensembl: ENSG00000139687

Protein

• UniProt ID: P06400
• Protein name: Retinoblastoma-associated protein (p105-Rb) (p110-RB1) (pRb) (Rb) (pp110)
• Protein function: Tumor suppressor that is a key regulator of the G1/S transition of the cell cycle (PubMed:10499802). The hypophosphorylated form binds transcription regulators of the E2F family, preventing transcription of E2F-responsive genes (PubMed:10499802)
• PDB: 1AD6, 1GH6, 1GUX, 1H25, 1N4M, 1O9K, 1PJM, 2AZE, 2QDJ, 2R7G, 3N5U, 3POM, 4CRI, 4ELJ, 4ELL, 9DGK, 9DHC, 9DHF, 9DHU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11934	DUF3452	109 → 228	Domain of unknown function (DUF3452)	Family
  PF01858	RB_A	373 → 573	Retinoblastoma-associated protein A domain	Domain
  PF01857	RB_B	646 → 765	Retinoblastoma-associated protein B domain	Domain
  PF08934	Rb_C	768 → 925	Rb C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the retina. Expressed in foreskin keratinocytes (at protein level) (PubMed:20940255). {ECO:0000269|PubMed:20940255}.
• Sequence:

  MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTAL
  CQKLKIPDHVRERAWLTWEKVSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTEL
  QKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFALFSKLERTCELIYLTQPSSS
  ISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYK
  TAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFM
  NSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKS
  NLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENLISYFNNCTVNPKESILKRVK
  DIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDN
  IFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEG
  NLTREMIKHLERCEHRIMESLAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNH
  TAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYL
  RLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLK
  FKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLS
  PIPHIPRSPYKFPSSPLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFG
  TSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGESKFQQK
  LAEMTSTRTRMQKQKMNDSMDTSNKEEK

• Sequence length: 928

Pathways

KEGG:

Endocrine resistance
Cell cycle
Cellular senescence
Cushing syndrome
Hepatitis C
Hepatitis B
Human cytomegalovirus infection
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Epstein-Barr virus infection
Pathways in cancer
Viral carcinogenesis
Chemical carcinogenesis - receptor activation
Pancreatic cancer
Glioma
Prostate cancer
Melanoma
Bladder cancer
Chronic myeloid leukemia
Small cell lung cancer
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer

Reactome:

Inhibition of replication initiation of damaged DNA by RB1/E2F1
Condensation of Prophase Chromosomes
Formation of Senescence-Associated Heterochromatin Foci (SAHF)
Oncogene Induced Senescence
Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes
Cyclin E associated events during G1/S transition
Cyclin D associated events in G1
Cyclin A:Cdk2-associated events at S phase entry

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
Bone osteosarcoma	Pathogenic	rs587778842, rs587776783, rs3092891, rs137853293, rs137853294, rs587776789	RCV006257273 RCV000763334 RCV002496351 RCV005007842 RCV000763335 RCV004795405	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cervical cancer	Pathogenic	rs587778860	RCV005887887	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Likely pathogenic	rs1566187856	RCV005901722	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Pathogenic	rs587776780	RCV006254235	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic	rs2138136810	RCV005939471	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1	Pathogenic	rs587776783, rs764754259, rs1555286503	RCV005887889 RCV005939472 RCV005901270	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic	rs1555286250, rs587776789, rs1555286503	RCV005912637 RCV005899651 RCV005901271	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs1131690852, rs2138027218, rs2138084130, rs1131690881, rs483352690, rs2138342748, rs587776783, rs121913305, rs587778833, rs587778849, rs587778850, rs587778870, rs587778842, rs121913300, rs587778844, rs587776782, rs587778829, rs121913302, rs121913303, rs587778862, rs1952457111, rs2138034088, rs2138144988, rs1949420231, rs587781256, rs2138027212, rs587776789, rs2138335800, rs727504120, rs727504121, rs1199831823, rs2542159160, rs2542163614, rs2138027419, rs2542159429, rs2542163706, rs2542163695, rs2542178490, rs2542184972, rs2542182238, rs2542182475, rs2542188550, rs2542094478, rs2138140935, rs1461382798, rs1948523741, rs2542206741, rs2542188520, rs2138142263, rs2542188725, rs2542099953, rs2542360661, rs2138327439, rs137853297, rs2542363917, rs1060503087, rs2138121441, rs2138028088, rs2542204636, rs2542206537, rs267603840, rs2542368456, rs2138344902, rs2542364375, rs2138336207, rs2542373622, rs2542376185, rs2138354487, rs2542381549, rs2542189936, rs2138331562, rs2542373560, rs2542373809, rs2542375698, rs1948534023, rs794727481, rs2542204515, rs878853949, rs2542194918, rs2542093681, rs2542375272, rs764754259, rs2542178621, rs1469887040, rs2542368066, rs2542364044, rs2542093257, rs587776779, rs3092891, rs137853293, rs121913301, rs1593538130, rs387906521, rs137853294, rs587776787, rs121913304, rs587776788, rs137853296, rs2138131373, rs2542194514, rs2542206509, rs2542206797, rs2542206852, rs2542376154, rs1593539538, rs2542381555, rs2542156233, rs2138123114, rs1555279228, rs2138331657, rs2542155892, rs2542165690, rs2542165903, rs2542166069, rs1060503079, rs1060503074, rs1555279195, rs1131690845, rs1555279210, rs1131690913, rs1131690855, rs1131690907, rs1131690915, rs1131690862, rs1131690843, rs1131690902, rs1131690912, rs1131690867, rs1131690874, rs1131690880, rs1131690871, rs1131690887, rs1131690895, rs768305224, rs1131690905, rs1131690878, rs1131690904, rs1131690890, rs1131690847, rs1131690863, rs1131690849, rs1131690864, rs1131690914, rs1131690901, rs1131690860, rs776534331, rs1131690873, rs1131690861, rs1131690872, rs1131690892, rs1131690846, rs1131690897, rs1131690889, rs1131690875, rs1131690851, rs1131690884, rs1131690879, rs1131690859, rs1131690886, rs1131690910, rs1131690909, rs1131690856, rs1131690876, rs1131690870, rs1131690842, rs1131690893, rs1131690899, rs587778871, rs1131690885, rs1131690903, rs1131690844, rs1131690865, rs1131690857, rs587778860, rs1131690896, rs1131690894, rs1131690882, rs1131690868, rs774744607, rs1131690866, rs1131690906, rs1131690908, rs1131690858, rs1555286576, rs1354030520, rs1555286570, rs1555286573, rs1555286575, rs1555286568, rs1566187856, rs1566192530, rs1566194415, rs1566186125, rs1566186836, rs1593529868, rs1593457065, rs1593438023, rs1593412261, rs1593455621, rs1593539386, rs1593414337, rs1948522792, rs1949432057, rs1948534542, rs2138140730, rs2138344925, rs1952715820, rs398123331	RCV004037680 RCV005712503 RCV002368232 RCV002456599 RCV006287160 RCV004656624 RCV004039991 RCV000492238 RCV004943753 RCV001014655 RCV004943754 RCV002326809 RCV000492345 RCV000492534 RCV000492203 RCV000492362 RCV000492557 RCV000492136 RCV000492246 RCV000492730 RCV000492118 RCV002343870 RCV006287533 RCV005724693 RCV004656781 RCV000587801 RCV006287557 RCV002352655 RCV002255896 RCV002345489 RCV005470378 RCV002320977 RCV002355333 RCV002347271 RCV002335830 RCV002344894 RCV002340048 RCV002344348 RCV002341017 RCV002369019 RCV002449614 RCV002421391 RCV002448019 RCV002382944 RCV002383283 RCV002383517 RCV002391836 RCV002389832 RCV002398430 RCV002387379 RCV002389341 RCV002405709 RCV002403635 RCV002414825 RCV002410229 RCV002410304 RCV002410376 RCV002396599 RCV002383678 RCV002381134 RCV002394583 RCV002392563 RCV002413055 RCV002422185 RCV002446170 RCV002413259 RCV002419958 RCV002430580 RCV002443957 RCV002430926 RCV002430998 RCV002426181 RCV002411038 RCV002417667 RCV002425862 RCV002448332 RCV004070143 RCV000492718 RCV004948795 RCV000492351 RCV003176997 RCV003176998 RCV003177001 RCV000492739 RCV003301740 RCV003301741 RCV003301755 RCV003301758 RCV003338937 RCV003338939 RCV002426500 RCV000492544 RCV000492108 RCV002399322 RCV000492492 RCV004948134 RCV000492684 RCV000492717 RCV002426501 RCV000492084 RCV000492635 RCV000492516 RCV000492204 RCV002408459 RCV005475407 RCV005725059 RCV004525252 RCV004525262 RCV004525269 RCV004525270 RCV004525294 RCV004525295 RCV004525296 RCV004525308 RCV006292537 RCV006276495 RCV006292538 RCV005475541 RCV005264546 RCV005475542 RCV005727168 RCV005475543 RCV000492335 RCV001013858 RCV002356696 RCV000492670 RCV000492677 RCV000492079 RCV000492515 RCV000492663 RCV000492357 RCV000492753 RCV000492283 RCV000492378 RCV000492579 RCV000492187 RCV000492301 RCV000492145 RCV000492586 RCV000492616 RCV000492150 RCV000492213 RCV000492454 RCV000492370 RCV000492470 RCV000492073 RCV000492621 RCV000492229 RCV000492435 RCV000492252 RCV000492562 RCV000492399 RCV000492405 RCV000492155 RCV000492654 RCV000492694 RCV000492095 RCV000492263 RCV000492602 RCV000492316 RCV000492572 RCV000492690 RCV000492255 RCV000492277 RCV000492660 RCV000492415 RCV000492212 RCV000492526 RCV000492490 RCV000492554 RCV000492392 RCV000492573 RCV000492294 RCV000492261 RCV000492541 RCV000492194 RCV000492517 RCV000492235 RCV000492308 RCV000492192 RCV000492076 RCV000492423 RCV000492272 RCV000492425 RCV000492437 RCV000492376 RCV000492727 RCV000492451 RCV000492105 RCV000492322 RCV000492166 RCV000492309 RCV000492755 RCV000492188 RCV000492539 RCV000492748 RCV000492489 RCV000492732 RCV000492728 RCV000492733 RCV000574308 RCV000589929 RCV000587932 RCV000586996 RCV000589809 RCV005470490 RCV001024025 RCV002397438 RCV005470495 RCV001020949 RCV005470508 RCV002397558 RCV002397604 RCV006287322 RCV001010236 RCV001011110 RCV001015294 RCV001011288 RCV002393296 RCV004950207 RCV002402800 RCV002393689 RCV002379981 RCV004944961 RCV002375336 RCV000492734	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary retinoblastoma	Pathogenic; Likely pathogenic	rs2138112509, rs2542206886, rs137853296, rs1131690858	RCV002466773 RCV002466926 RCV002466401 RCV002466520	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lip and oral cavity carcinoma	Pathogenic	rs1949384455	RCV001255642	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung adenocarcinoma	Pathogenic	rs2542156330	RCV003129627	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic; Pathogenic	rs587776783, rs1131690860	RCV005920559 RCV005901273	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lynch syndrome 4	Pathogenic; Likely pathogenic	rs587776789, rs750136284	RCV000786882 RCV000786881	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant glioma	Pathogenic	rs587778862	RCV006254386	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic; Likely pathogenic	rs587778860, rs587778839, rs587778842, rs587776783, rs121913302, rs121913303, rs587778863, rs2138034427, rs1952480014, rs2138335833, rs2138327439, rs1226865525, rs3092891, rs137853293, rs1593538130, rs137853294, rs587776789, rs2138136154, rs1131690892, rs1131690884, rs587778871, rs1131690882, rs1131690858, rs1566187856, rs1566196458	RCV005887886 RCV005887888 RCV006257273 RCV000763334 RCV003332117 RCV003332118 RCV003332119 RCV003332367 RCV002249148 RCV002250288 RCV005931921 RCV003332968 RCV005931178 RCV002496351 RCV005007842 RCV000013952 RCV000763335 RCV004795405 RCV005939470 RCV005899756 RCV005899754 RCV005899757 RCV005899755 RCV005869509 RCV004569371 RCV003332236	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm	Pathogenic; Likely pathogenic	rs2138136261, rs587778833, rs587778867, rs587778868, rs587778850, rs587778825, rs587778842, rs587778855, rs587776783, rs121913302, rs2138130852, rs1948523741, rs2138033820, rs886043247, rs121913301, rs137853294, rs2542189694, rs2542093316, rs1131690863, rs1131690886, rs1217977493	RCV004671380 RCV004668775 RCV004668776 RCV006273510 RCV004668777 RCV004668778 RCV006273511 RCV006273512 RCV005229900 RCV006273513 RCV004671457 RCV006274355 RCV004673777 RCV006273698 RCV004668727 RCV006273053 RCV004674019 RCV004674020 RCV004669004 RCV006273839 RCV004671208	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RB1-related disorder	Pathogenic; Likely pathogenic	rs587776783, rs1131690886, rs2138346270, rs1131690847, rs1131690846, rs1566186125	RCV003410355 RCV003949104 RCV003976775 RCV003419826 RCV003403138 RCV003983181	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinoblastoma	Likely pathogenic; Pathogenic	rs1948534047, rs2138123098, rs2138136810, rs2138025968, rs2138116702, rs2138131298, rs1131690852, rs2138027218, rs2138027345, rs1469887040, rs2138027798, rs2138034131, rs1131690907, rs2138084130, rs2138087163, rs2138087235, rs2138093555, rs2138116265, rs41287453, rs2138131106, rs2138136261, rs2138136497, rs1555286250, rs1395304450, rs2138144919, rs2138145163, rs1237070816, rs2138331562, rs1949385207, rs2138344503, rs587776786, rs958914211, rs2138345718, rs2138345919, rs1131690881, rs1231557654, rs2138359672, rs483352690, rs2138112865, rs2138342748, rs2138144870, rs2138331459, rs2138112354, rs2138345077, rs2138121452, rs2138336180, rs2138345665, rs2138345650, rs2138034025, rs2138083574, rs587776783, rs2138112893, rs587778864, rs121913305, rs587778858, rs587778833, rs587778865, rs587778866, rs587778871, rs587778867, rs587778859, rs587778860, rs587778849, rs587778835, rs587778868, rs2138344431, rs587778836, rs587778861, rs794727372, rs587778837, rs587778838, rs587778850, rs587778851, rs587778839, rs587778825, rs121913296, rs587778841, rs587778870, rs587778854, rs587778826, rs587778869, rs886037649, rs587778842, rs587778827, rs587778828, rs587778843, rs121913300, rs587778855, rs587778844, rs587776782, rs587778829, rs587778830, rs587778845, rs2138145303, rs587778831, rs587778846, rs587778847, rs121913302, rs587778832, rs121913303, rs587778863, rs587778857, rs587778840, rs587778862, rs587778824, rs1952457111, rs2138140923, rs1566235448, rs1593412262, rs2138091538, rs2138143170, rs2138034389, rs2138034088, rs2138034427, rs2138121175, rs2138093727, rs1593538236, rs1340261233, rs1131690855, rs2138331576, rs2138093700, rs2138140730, rs2138327123, rs2138027150, rs2138116708, rs2138112461, rs2138144988, rs2138136325, rs377235036, rs768929728, rs2138145859, rs1949420231, rs587781256, rs587781257, rs2138331328, rs2138087348, rs2138145739, rs2138027212, rs2138342499, rs2138331297, rs2138142421, rs2138344869, rs587776789, rs2138336089, rs2138130852, rs2138087628, rs2138087877, rs2138335800, rs1949430890, rs2138107604, rs2138033935, rs1060503078, rs727504121, rs2138027419, rs2138140935, rs2542206741, rs2138142263, rs2542360661, rs137853297, rs1060503087, rs2138121441, rs2138028088, rs2138336207, rs2542375629, rs2138112509, rs2542178368, rs768305224, rs2138131253, rs2138140900, rs2138145156, rs1948534023, rs2542360796, rs794727199, rs794727481, rs1485450031, rs2542094495, rs2542204232, rs2542204515, rs2542367312, rs2542100256, rs2542100363, rs2542163744, rs2542198970, rs2542368614, rs2542364289, rs2138331596, rs2542373636, rs2138033820, rs2542202867, rs2542159328, rs878853947, rs376886420, rs878853949, rs2138336213, rs2542194918, rs886042357, rs886043247, rs764754259, rs2542364044, rs2542159239, rs2138136807, rs1226865525, rs587776779, rs587776780, rs3092891, rs137853292, rs137853293, rs587776781, rs121913301, rs1593538130, rs121913297, rs1555285429, rs587776784, rs587776785, rs387906520, rs387906521, rs137853294, rs137853295, rs587776787, rs121913304, rs587776788, rs137853296, rs587776790, rs587776791, rs2542206617, rs2542206515, rs2542093276, rs2542094556, rs2542202770, rs1459523811, rs1566234123, rs2542093262, rs755704180, rs2138028105, rs2138033781, rs2542100048, rs2542165690, rs2542188575, rs2542194805, rs2138131373, rs2138140795, rs2138145870, rs121913295, rs886042249, rs2542375627, rs1593539493, rs2542368395, rs2542094356, rs2542156330, rs2542203051, rs2138345814, rs2542155973, rs2542093585, rs2542367775, rs1131690892, rs80122842, rs1131690914, rs2542373753, rs2138145527, rs1060503074, rs2542165708, rs1131690879, rs2542099907, rs2542163666, rs2542094345, rs727504122, rs2542373602, rs2542364147, rs2542178688, rs2542182043, rs2542188688, rs2138345066, rs2542376154, rs2542156233, rs2542182392, rs2542094349, rs2542181842, rs2542181919, rs2542182132, rs2542182142, rs1555284945, rs2542182281, rs2542182319, rs2542182360, rs2138112357, rs2138116341, rs2542185042, rs2542185063, rs2542185081, rs2542185122, rs2138120917, rs2542188653, rs2138121023, rs2542188421, rs2542188523, rs2542189694, rs2542189679, rs2138123114, rs2542093245, rs2542189840, rs2542189911, rs2542189961, rs2542189979, rs2542194817, rs2542194998, rs2138136154, rs2542198715, rs756329704, rs2138136448, rs2542199056, rs2542199088, rs4151534, rs2542199175, rs2542093316, rs2138136840, rs2542202847, rs2542091863, rs2542204075, rs2138142183, rs2542204134, rs2542204239, rs2542093570, rs2542204506, rs2542204520, rs2542204553, rs2542204589, rs1948522736, rs1948522792, rs2542204736, rs2542204841, rs2542206397, rs1131690909, rs2542206390, rs2542206509, rs748352319, rs2542206553, rs2542206559, rs2138145061, rs2542206679, rs2542206843, rs2542206907, rs2542206952, rs2542207009, rs2542207110, rs1555279228, rs2542360559, rs2542360590, rs375645171, rs2542360799, rs2542360825, rs2542360845, rs2542363970, rs2542363996, rs2542364001, rs2542364023, rs2542364116, rs2542364114, rs2542364154, rs2542364169, rs2542364337, rs2138331657, rs2542364433, rs2542364443, rs2542367847, rs2542367909, rs562956970, rs2542368024, rs2542368027, rs2138335981, rs2542368202, rs2542368243, rs2542368300, rs1593534748, rs2542368476, rs2542368593, rs1131690865, rs2542373442, rs2542099867, rs2542373517, rs2542373532, rs2542373551, rs2542373575, rs2542373579, rs2138342342, rs2542373705, rs2542373716, rs2138342583, rs2542373788, rs2542375089, rs2542375128, rs2542375110, rs2542099970, rs1593539163, rs2542375244, rs754814477, rs2542375324, rs2542375425, rs1593539366, rs2542375766, rs2542375805, rs2542375867, rs2542375996, rs2542375992, rs2542375999, rs2542376107, rs2542376106, rs2542100268, rs2542376200, rs2138354487, rs2138354579, rs2542381578, rs2138034351, rs1566240909, rs2542100326, rs2542384239, rs2542384259, rs2542384271, rs2542384326, rs1060503090, rs1952090786, rs1952455387, rs1131690862, rs2542091859, rs2542155892, rs2542155979, rs2542155996, rs2542156125, rs139673557, rs886043313, rs2542159378, rs2542159446, rs2138087664, rs2542159487, rs2542159538, rs2542163576, rs2542163684, rs2138091656, rs2542165903, rs2138093662, rs2542166052, rs2542166069, rs2138093789, rs2138107532, rs2542178656, rs776450325, rs2138112027, rs2138131328, rs121913298, rs1060503088, rs1060503067, rs1060503075, rs1060503079, rs1555286707, rs9535023, rs1064792974, rs1060503077, rs1555279195, rs1555279210, rs1131690843, rs1131690902, rs1131690880, rs1131690895, rs1131690904, rs1131690863, rs1131690849, rs1131690864, rs1131690901, rs1131690860, rs1131690846, rs1131690851, rs1131690884, rs1131690886, rs1131690876, rs1131690842, rs1131690882, rs1131690866, rs1131690906, rs1131690908, rs1131690858, rs1555284956, rs1555286611, rs1555286236, rs1555294636, rs1555279212, rs1555286503, rs1354030520, rs1555286568, rs1555286573, rs1555283670, rs1555282775, rs1461382798, rs1555286695, rs1555283482, rs1555294626, rs1555282811, rs1555294600, rs1555286220, rs1555295354, rs1566199059, rs1566237098, rs1566187856, rs1566192530, rs1566194415, rs1566199125, rs1566235470, rs1566174074, rs1566186087, rs1566186840, rs1566186889, rs1566191596, rs1566174065, rs1276653645, rs1566192557, rs1566194323, rs1566196458, rs1258442224, rs1566233076, rs1566174147, rs1566186125, rs1566186836, rs1566197747, rs1131690859, rs1593448449, rs1593529868, rs1593412002, rs1593434175, rs1593445096, rs1593445220, rs1593445246, rs1593454115, rs1593456963, rs1593457065, rs1593457070, rs1593457108, rs1593457156, rs1593532084, rs1593534586, rs1593538155, rs1593538175, rs1593538220, rs1593539225, rs1593539435, rs1593539538, rs1593544647, rs1593532101, rs1566235515, rs1593411974, rs1593438023, rs1593443514, rs1593453973, rs1593455621, rs1593539386, rs1593414337, rs1952054473, rs1952511865, rs1952726441, rs1952831606, rs1952831740, rs1948513922, rs1948522929, rs1948533760, rs1948533963, rs1217977493, rs1949433098, rs1949433358, rs1949360306, rs1949432057, rs1952680837, rs1952654925, rs1949383286, rs1949430616, rs1949359779, rs869264218, rs1949433250, rs1949506548, rs1952455844, rs1952726482, rs1949484627, rs1952053203, rs1948519774, rs1949430414, rs1952456105, rs1952480014, rs1952481401, rs1948534542, rs1949338513, rs1948523741, rs1949359603, rs1949384403, rs2138025895, rs2138087597, rs2138112061, rs2138112755, rs2138327168, rs2138342284, rs2138344622, rs2138344925, rs2138344987, rs2138345982, rs2138354759, rs1952715820, rs398123331, rs1131690853	RCV001340617 RCV001374399 RCV001374400 RCV001378016 RCV001377729 RCV001378940 RCV001386153 RCV001382439 RCV001387149 RCV001386154 RCV001385813 RCV001389644 RCV001386155 RCV001390007 RCV001386157 RCV001383396 RCV001380247 RCV001388712 RCV001380199 RCV001380970 RCV001380999 RCV001383898 RCV001383900 RCV001383901 RCV001382159 RCV001387219 RCV001383899 RCV001380940 RCV001389511 RCV001389509 RCV001390325 RCV001381396 RCV001387265 RCV001387462 RCV001384072 RCV001384073 RCV001390327 RCV001854505 RCV001533518 RCV001533519 RCV001533520 RCV001533521 RCV001533522 RCV001533523 RCV001533524 RCV001533525 RCV001533526 RCV001533527 RCV001543670 RCV004821312 RCV004556842 RCV005095189 RCV000114676 RCV000114677 RCV000114678 RCV000114680 RCV000114681 RCV000114682 RCV000114683 RCV000114684 RCV000114686 RCV000114687 RCV000114688 RCV000114689 RCV000114690 RCV000114691 RCV000114692 RCV000114693 RCV000114694 RCV000114695 RCV000114696 RCV000114697 RCV000114698 RCV000114699 RCV000114701 RCV000114702 RCV000114703 RCV000114704 RCV000114705 RCV000114706 RCV000114710 RCV000114711 RCV000114712 RCV000114713 RCV000114714 RCV000114715 RCV000114716 RCV000114717 RCV000114718 RCV000114719 RCV000114720 RCV000114722 RCV000114723 RCV001805738 RCV000114724 RCV000114725 RCV000114726 RCV000114727 RCV000114728 RCV000114729 RCV000114731 RCV000114733 RCV000114735 RCV000114736 RCV000114737 RCV000114738 RCV000114739 RCV001809313 RCV001918957 RCV001924110 RCV001941800 RCV001904009 RCV001894504 RCV001872293 RCV001938303 RCV001950933 RCV001946774 RCV001949294 RCV001953851 RCV001953895 RCV001997090 RCV002012144 RCV001949654 RCV001905470 RCV001989795 RCV001920131 RCV001919410 RCV001898449 RCV002035377 RCV002000209 RCV002002434 RCV002002437 RCV002002440 RCV002037927 RCV000128456 RCV000128457 RCV002037779 RCV001941856 RCV001939588 RCV001994876 RCV001939372 RCV001948221 RCV001956389 RCV001886991 RCV001947025 RCV001959117 RCV001959126 RCV002044891 RCV001910839 RCV002005116 RCV002011891 RCV004556848 RCV002272620 RCV002272670 RCV002272784 RCV002287299 RCV004557049 RCV001850106 RCV004556852 RCV003138241 RCV004556857 RCV004556856 RCV004556858 RCV004556859 RCV004556855 RCV004556853 RCV004556854 RCV003101027 RCV004556860 RCV004556861 RCV003514591 RCV003062580 RCV003062581 RCV003062582 RCV003062584 RCV003058414 RCV003058415 RCV003062586 RCV003041190 RCV003041191 RCV001388989 RCV001386156 RCV002818981 RCV002819746 RCV002829085 RCV002856232 RCV002811691 RCV002857077 RCV002847580 RCV002848186 RCV002852118 RCV002876067 RCV002867382 RCV002877174 RCV003009571 RCV003019803 RCV003049513 RCV003027945 RCV003043986 RCV003048280 RCV000226485 RCV000227413 RCV000234228 RCV004556864 RCV004556865 RCV000312051 RCV001855163 RCV004556777 RCV004556868 RCV003485927 RCV004556870 RCV003397009 RCV003337752 RCV000013944 RCV000013945 RCV000013946 RCV000013947 RCV000013948 RCV000013949 RCV000013950 RCV000013951 RCV001229630 RCV002272016 RCV000013956 RCV000013957 RCV000013958 RCV000013959 RCV000013960 RCV000013961 RCV000013962 RCV000013963 RCV000013964 RCV000114734 RCV000013967 RCV000013968 RCV000013969 RCV000013970 RCV000013971 RCV000013972 RCV003444436 RCV003515312 RCV003515317 RCV003515319 RCV003514662 RCV003515437 RCV003514127 RCV003516227 RCV003514089 RCV003514161 RCV003516364 RCV003516342 RCV003516343 RCV003516344 RCV003516345 RCV003516346 RCV003516347 RCV003516349 RCV003516350 RCV003516351 RCV003516352 RCV003516353 RCV003516354 RCV003516355 RCV003516356 RCV003516357 RCV003516358 RCV003516359 RCV003516622 RCV003514943 RCV003514927 RCV003514979 RCV003514982 RCV003515071 RCV003515029 RCV003515858 RCV003515931 RCV003626929 RCV003627703 RCV003627786 RCV003627813 RCV003628047 RCV003628048 RCV003628185 RCV003628415 RCV003628392 RCV003628242 RCV003628587 RCV003626103 RCV003626154 RCV003626227 RCV003626253 RCV003626274 RCV003627414 RCV003628102 RCV003859946 RCV004556882 RCV004556883 RCV004555384 RCV004557000 RCV004557001 RCV004557002 RCV004557003 RCV004557004 RCV004557005 RCV004557006 RCV004557007 RCV004557008 RCV004557009 RCV004557012 RCV004557013 RCV004557014 RCV004557015 RCV004557016 RCV004557017 RCV004557018 RCV004557019 RCV004557020 RCV004557021 RCV004557022 RCV004557023 RCV004557024 RCV004557025 RCV004557026 RCV004557027 RCV004557028 RCV004557029 RCV004557030 RCV004557031 RCV004557032 RCV004557033 RCV004557036 RCV004557037 RCV004557038 RCV004557040 RCV004557041 RCV004557042 RCV004557043 RCV004557044 RCV004557045 RCV004557046 RCV004557047 RCV004557048 RCV004557050 RCV004557051 RCV004557052 RCV004557053 RCV004557055 RCV004557056 RCV004557057 RCV004557058 RCV004557059 RCV004557060 RCV004557061 RCV004557062 RCV004557063 RCV004557064 RCV004557065 RCV004557066 RCV004557067 RCV004557068 RCV004557069 RCV004557072 RCV004557073 RCV004557074 RCV004557075 RCV004557076 RCV004557078 RCV004557079 RCV004557080 RCV004557081 RCV004557082 RCV004557083 RCV004557084 RCV004557086 RCV004557088 RCV004557089 RCV004557090 RCV004557091 RCV004557092 RCV004557093 RCV004557094 RCV004557097 RCV004557098 RCV004557099 RCV004557101 RCV004557102 RCV004557103 RCV004557104 RCV004557105 RCV004557107 RCV004557109 RCV004557110 RCV004557111 RCV004557112 RCV004557113 RCV004557114 RCV004557115 RCV004557116 RCV004557117 RCV004557118 RCV004557119 RCV004557120 RCV004557121 RCV004557123 RCV004557124 RCV004557125 RCV004557128 RCV004557129 RCV004557130 RCV004557131 RCV004557133 RCV004557135 RCV004557136 RCV004557137 RCV004557138 RCV004557139 RCV004557140 RCV004557141 RCV004557142 RCV004557143 RCV004557144 RCV004557145 RCV004557146 RCV004557147 RCV004557148 RCV004557149 RCV004557150 RCV004557151 RCV004557152 RCV004557153 RCV004557154 RCV004557155 RCV004557156 RCV004557157 RCV004557158 RCV004557159 RCV004557161 RCV004557162 RCV004557163 RCV004557165 RCV004557166 RCV004557167 RCV004557168 RCV004557169 RCV004557170 RCV004557171 RCV004557172 RCV004557173 RCV004557174 RCV004557175 RCV004557176 RCV004557177 RCV004557178 RCV004557180 RCV004557181 RCV004557182 RCV004557183 RCV004557184 RCV004557185 RCV004557186 RCV004557187 RCV004557188 RCV004557189 RCV004557190 RCV004557192 RCV004557193 RCV004557195 RCV004557196 RCV004557197 RCV004557198 RCV004557199 RCV004557200 RCV004557201 RCV004557202 RCV004557203 RCV004557204 RCV004557205 RCV004557206 RCV004557207 RCV004557208 RCV004557209 RCV004557210 RCV004557211 RCV004557212 RCV004557213 RCV004557214 RCV004557215 RCV004557216 RCV004557217 RCV004557218 RCV004557219 RCV004557221 RCV004557222 RCV004557223 RCV004557224 RCV004577633 RCV000437633 RCV000471747 RCV000470261 RCV000476967 RCV000471628 RCV000456907 RCV000466407 RCV000469761 RCV000462245 RCV000465314 RCV000462003 RCV000471380 RCV002525820 RCV004556796 RCV000795397 RCV000697493 RCV001856950 RCV004556798 RCV000814584 RCV001290126 RCV002523986 RCV001042526 RCV000812389 RCV003514369 RCV000548468 RCV004556792 RCV000684899 RCV000699793 RCV000701287 RCV004556797 RCV005091032 RCV000698759 RCV003514368 RCV001382143 RCV004556799 RCV004556794 RCV000722018 RCV002523442 RCV000705417 RCV001856949 RCV004556793 RCV003514370 RCV001228827 RCV004820851 RCV000686279 RCV001202042 RCV001384071 RCV000555963 RCV000535718 RCV000541021 RCV000539506 RCV000532339 RCV000553322 RCV000543344 RCV004556806 RCV000632925 RCV001237743 RCV000626660 RCV000632934 RCV000632961 RCV000632942 RCV000632933 RCV000632937 RCV000632932 RCV000632959 RCV000632946 RCV000632924 RCV000632960 RCV000632938 RCV000632966 RCV000689697 RCV000699038 RCV000697676 RCV000695245 RCV000702435 RCV000699397 RCV000695277 RCV000693604 RCV000693421 RCV000702285 RCV000687155 RCV000687725 RCV000703743 RCV000690735 RCV000705554 RCV000693455 RCV000704628 RCV000704145 RCV000684936 RCV000686416 RCV000697663 RCV000707506 RCV000706340 RCV000722027 RCV000722028 RCV000722024 RCV000722030 RCV003230274 RCV002466580 RCV000786933 RCV000786934 RCV000816353 RCV000816071 RCV000810383 RCV000793959 RCV000806858 RCV000820318 RCV000809364 RCV000799793 RCV000793292 RCV000816000 RCV000814656 RCV000803123 RCV000807700 RCV000799512 RCV000808999 RCV000793849 RCV000801885 RCV000819160 RCV000811806 RCV000801998 RCV000794583 RCV000804002 RCV000799100 RCV000801676 RCV000989105 RCV000989109 RCV000989111 RCV000989117 RCV000989138 RCV001788396 RCV001523800 RCV003514452 RCV001048241 RCV001039105 RCV001035710 RCV001066074 RCV001038726 RCV001061444 RCV001053080 RCV001060697 RCV001050879 RCV001067330 RCV001053360 RCV001066595 RCV001064630 RCV001037141 RCV001064923 RCV001069328 RCV001056968 RCV001057987 RCV001051823 RCV001196348 RCV001196939 RCV001196146 RCV001219872 RCV001214854 RCV001214682 RCV001214983 RCV001204113 RCV001211166 RCV001206314 RCV001213175 RCV001221434 RCV001231370 RCV001231903 RCV001226539 RCV001233849 RCV001240257 RCV001243830 RCV001257127 RCV001257129 RCV001257128 RCV001257130 RCV001290127 RCV001290128 RCV001290129 RCV001523843 RCV001523798 RCV001523799 RCV001523842 RCV001523805 RCV001523795 RCV001523841 RCV001523796 RCV001523797 RCV001523845 RCV001523846 RCV001523844 RCV001523802 RCV001523804 RCV001523801 RCV001292823 RCV001294162 RCV000114730 RCV001301388	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Pathogenic	rs587776783, rs1593538236, rs1949420231, rs2138359672, rs1060503087, rs2138116708	RCV005887890 RCV005925359 RCV005924368 RCV005930199 RCV005931898 RCV005899496 RCV005910914	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Small cell lung carcinoma	Pathogenic	rs587778842, rs587776783, rs3092891, rs137853293, rs121913297, rs137853294, rs587776789	RCV006257273 RCV000763334 RCV002496351 RCV005007842 RCV000013953 RCV000763335 RCV004795405	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous cell carcinoma	Pathogenic	rs2138131143	RCV003129605	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Pathogenic	rs764754259	RCV005895771	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trilateral retinoblastoma	Pathogenic	rs121913304	RCV000013966	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vulvar adenocarcinoma of mammary gland type	Pathogenic	rs137853294	RCV004813036	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER CANCER	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SMALL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS 8	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOGENIC SARCOMA	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian neoplasm	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEZARY SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL CANCER OF THE LUNG	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CANCER	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acoustic Neuroma	Acoustic Neuroma	BEFREE	15881662		★☆☆☆☆ Found in Text Mining only
Acoustic Neuroma	Acoustic Neuroma	LHGDN	15881662		★☆☆☆☆ Found in Text Mining only
Acute erythroleukemia	Erythroleukemia	CTD_human_DG	30926971		★☆☆☆☆ Found in Text Mining only
Acute erythroleukemia - M6a subtype	Erythroleukemia	CTD_human_DG	30926971		★☆☆☆☆ Found in Text Mining only
Acute erythroleukemia - M6b subtype	Erythroleukemia	CTD_human_DG	30926971		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	11255727, 9517499		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	29552179, 7507704, 8757515, 9517499		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia FAB-M6	Myeloid Leukemia	CTD_human_DG	30926971		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	12197776, 18383208		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12940460, 15892297		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	8741802		★☆☆☆☆ Found in Text Mining only
Adrenal Cancer	Adrenal Cancer	CTD_human_DG	24747643		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	CTD_human_DG	24747643		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	24334458		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	CTD_human_DG	24747642		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	25078331, 25490274, 29581542, 33564960	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29552179, 9517499		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	18386058		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	Pubtator	32139107	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	11204276		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	14522882		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	19052088, 1911187, 19883508, 20003272, 28723239, 32057913, 34303217	Associate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	35437049	Associate	★☆☆☆☆ Found in Text Mining only
Anus Neoplasms	Anus neoplasm	Pubtator	24048785	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Disease	Aortic valve disease	Pubtator	23595191	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	14730602, 30352835	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37506143	Inhibit	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	10079373, 12556968, 15367334, 15970925, 26317630, 31736278, 35945679	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	32345961, 37345209	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	36303246	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	11267940		★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	1884351		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	10502318, 11529851, 7655020, 8378351, 9583687, 9599022		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of bladder	Benign Neoplasm Of Bladder	CGI_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11919466, 9102201		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	11956626, 19160091		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	33369444	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	CTD_human_DG	17901229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain neoplasms	Pubtator	17311305, 18575738, 22205104, 27556418, 32345147, 32373934, 37140883	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	17318405, 30053065		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	17318405		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11108660, 11267940, 11477119, 1336726, 16168121, 16685266, 1732054, 17599361, 17896177, 18782450, 20679727, 23029355, 23485561, 24012720, 25363551, 2543943, 25917868, 26474308, 29468542, 29956066, 31809870, 7547638, 7615356		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	14672398, 19234134, 20948315		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10193322, 10193332, 11267940, 11506494, 11717311, 11976406, 12021276, 12838314, 14572667, 15220371, 16457699, 16685266, 16966377, 17047088, 17074804, 17456764, 18060053, 18202149, 18236071, 18431743, 18782450, 19147702, 19706513, 1986383, 19940364, 20594292, 20614030, 20823156, 21203526, 21253829, 21459801, 21756866, 21816898, 2294744, 23029355, 23197489, 23485561, 23887295, 24469035, 24621502, 24883302, 25014225, 25216078, 25220500, 26004085, 26339389, 26439695, 26527317, 2725521, 27336726, 27462784, 27634906, 27849562, 28027327, 28620137, 28990063, 29236940, 30410061, 30597041, 30642295, 31704974, 31781306, 32005108, 32242058, 32860163, 33067557, 33191115, 33213401, 33335078, 33854672, 34244855, 34525987, 35256595, 35590107, 35711885, 36269797, 36332363, 36915230, 37202799, 38403110, 7577475, 9018120, 9215124, 9388270, 9528753, 9990866	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	2217208	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Male	Male breast neoplasms	Pubtator	33964913	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	10360642, 10482541, 10702389, 19694314, 36719239	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	11079730, 11369633, 11965548, 12657136, 12912919, 12940460, 1316611, 1352883, 14695761, 15927959, 1648218, 17461478, 18475256, 1911187, 21816898, 23803020, 23832541, 26465338, 26787232, 26925970, 27629734, 30575267, 30720065, 32521925, 34058265, 34315877, 3480530, 35412907, 36175480, 36857183, 9192669	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34851822	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	26008974, 31085341, 33144445, 9033254	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	1381957, 16293976, 2181449, 25446844, 26022453, 7947078, 9192669		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	CTD_human_DG	14522882		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	Pubtator	26429873, 31467233	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	Pubtator	28887603, 33980253	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	18782450	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	11267940, 35743985	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	10682682, 12515910, 24684970	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11531255, 1339101, 16254459, 17278226, 17907805, 18281783, 24254306, 26576645, 26823834, 27246981, 27849562, 28300839, 29085029, 30531861, 35581624, 35761036, 36634747, 37781033, 7640222, 8957064	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24935581	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	16402033	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	40362654	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of bladder	Bladder carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	21756866, 23197489	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	26960398, 28535939, 29535388, 31085341, 33144445, 35331190	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	35743985	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	19551862, 24406863, 26238782, 26743471, 26981779, 27121059, 34480892, 34593967, 36075957, 36736454	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11919466		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21511813, 9192978		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	11076658, 18431743, 26043844, 33676525	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	15865092, 24293293, 30535494	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29353061, 34980126, 37515929, 37629167, 38043790, 38492778, 39336758	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	24323898, 26340530, 28535939, 28951314, 29763719, 31228622, 31959344, 32389660, 32649013, 33031101, 34145257, 35662501, 36082904, 37628903, 38057798, 8180008	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	28106103, 30918106	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	11267938, 11737469, 17461478, 24323028, 28177435, 30446465, 31829519, 31959344, 34480892, 36075957, 37821306, 39481992	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28106103	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	15161057, 17311305	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	CTD_human_DG	26950094		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	26022453		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17047088, 31060523, 8077050		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	14522882		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	32209061	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	11267940		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	21567202, 30957588		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	30303478		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	21567202, 30957588		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	23334668		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	29552179, 9517499		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	8957064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	8957064	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrosarcoma	Chondrosarcoma	Pubtator	11332612, 18624751	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	2765366		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	16078265	Associate	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	24613344, 39227622	Associate	★☆☆☆☆ Found in Text Mining only
Chromosome 13q14 deletion syndrome	13q14 Deletion Syndrome	ORPHANET_DG	21505449		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10502318, 11529851, 21890456, 7655020, 8378351, 9583687, 9599022		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	12143052		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	34733451	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	8344490		★☆☆☆☆ Found in Text Mining only
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4	Colorectal Cancer	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16570290, 8344490		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11106567, 11207048, 18794899, 1911187, 19125701, 22020530, 23059827, 27321817, 28675510, 32123008, 34476575, 36296971, 39742876, 7779716, 7947085, 9369933	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15763542, 16042572		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	40138429	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	10720137, 18702872, 20451864, 23670186		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1B	Congenital disorder of glycosylation	Pubtator	23197489	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	21505449	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30160343		★☆☆☆☆ Found in Text Mining only
Desmoid disease hereditary	Desmoid tumor	Pubtator	17077595	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	33490239	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	10504475	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37049846	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	21538823	Associate	★☆☆☆☆ Found in Text Mining only
Drug-Induced Stevens Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	32139107	Associate	★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	26337765	Associate	★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	29443735, 36332363	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11196205, 12770752, 14519645, 16999816, 21760855		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	25495249, 34162378	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	10682682, 12515910, 15589577, 17649817, 21760855, 21816898, 22295114, 24531693, 29264761, 30816518, 33464989, 34162378, 35717540, 39577664	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	16009159, 16616093, 18048499, 25217304, 33464989	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	16616093		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	27593876	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	28412861		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	10353761		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	10353761		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	11079730, 11315260, 17461478, 32058552, 32104700, 34663841, 8415648	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	16273238		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	11079730, 11570573, 11599796, 17461478, 22938432, 29866946, 34663841	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophagitis	Esotropia	Pubtator	17461478	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	34336010	Associate	★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye Neoplasms	LHGDN	12461781		★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye neoplasms	Pubtator	18073428	Associate	★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye Neoplasms	BEFREE	20610631, 23826078, 24412019		★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	26336083	Associate	★☆☆☆☆ Found in Text Mining only
Familial Retinoblastoma	Retinoblastoma	BEFREE	10671068, 11571558, 12569181, 1577465, 16343894, 26753011, 26763876, 28331555, 7704558, 7795591, 7927327, 8605116		★☆☆☆☆ Found in Text Mining only
Familial Retinoblastoma	Retinoblastoma	ORPHANET_DG	16934146, 23498719, 23498780		★☆☆☆☆ Found in Text Mining only
Familial Retinoblastoma	Retinoblastoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	26928463, 29603871		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	26928463	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	26928463		★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	19367380		★☆☆☆☆ Found in Text Mining only
Fibrofolliculoma	Fibrofolliculoma	BEFREE	30908293		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	33563892	Stimulate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	34798839	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	LHGDN	12508351		★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	29217619		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	37345605	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	31553483, 31570771, 31758409	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GATA2 Deficiency	Gata2 deficiency	Pubtator	12925224	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Gilbert Disease	Gilbert syndrome	Pubtator	27096027	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	10079373, 11204276, 12556968, 20406234, 22157621, 23468990, 23707559, 23864165, 26337765, 27344175, 27502248, 30151703, 30816530, 30861589, 31896544, 33876327, 34525976, 34952640, 35945679, 38351343, 8764092	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11204276, 27251041, 29468542, 8806696		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27251041, 29468542		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	11278920, 21470325, 21663659, 24077277, 30816530, 32665022, 40355925, 8286200	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28573541, 28970140, 30816530, 8286200		★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	LHGDN	18477220		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	22909775		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	24888624		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	16948516, 27507850, 34635145	Associate	★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	23595191	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	9130611, 9716009		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	1884351		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	18782450	Inhibit	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	26339389	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	24373183	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	24935581		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	24935581	Inhibit	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	2905314		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	8234264	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	30394935	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	8741802		★☆☆☆☆ Found in Text Mining only
Hereditary retinoblastoma	Hereditary Retinoblastoma	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hodgkin Disease	Hodgkin disease	Pubtator	25550786	Associate	★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	23900873	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	15136974	Associate	★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	18948382	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	27760455	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	26537237	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	31006913		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
HYPOTRICHOSIS 8	Hypotrichosis	CLINVAR_DG	18461368, 25119526		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	14710850, 15377335, 31834445, 8763866, 9528826, 9862563	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	23315497	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	37049846	Inhibit	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31806026	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	14695761, 27629734	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Embolism	Intracranial embolism	Pubtator	33755733	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	11267940, 17599361		★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	BEFREE	20451864		★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	19192054		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	LHGDN	15161658		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	10504475	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	37310408	Associate	★☆☆☆☆ Found in Text Mining only
L2 Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	23334668		★☆☆☆☆ Found in Text Mining only
Laryngeal neoplasm	Laryngeal neoplasm	LHGDN	17145812, 19141402		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	19141402	Associate	★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	22581272		★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	30312872	Associate	★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	35662501	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	12413982, 19499404, 25625804, 26006736, 28664937, 31313594, 34224241	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	19077296	Stimulate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	2765366		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	2765366, 27882721, 29270859, 29321523, 29327710, 29662154, 32299819, 33115433, 33788262	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	37491255	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10477726, 15178346, 1993222, 2242427, 2404525, 24987858	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	17455244		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	1884351		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	8471770	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	10210318	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11698483	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	1683797, 21643017, 30926971, 8813093	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	34042274	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	18262051, 8759895, 9517499, 9716009		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	18262051		★☆☆☆☆ Found in Text Mining only
Leukocoria	Leukocoria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	8741802		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	22581272		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	BEFREE	11571558, 30001242		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	15136974, 26945059	Associate	★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple	Lipomatosis	BEFREE	11571558		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	15933756, 35672466, 7479800	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	34168281	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	15933756		★☆☆☆☆ Found in Text Mining only
Liposarcoma, well differentiated	liposarcoma	BEFREE	12210086		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10952243, 12143052, 12845670, 22472882, 24254306, 24838394, 24935581, 31206197, 8033150, 8957064		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	12029619, 14961299		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	16254459		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	12143052		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	40138743	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	11960384, 17804741		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19472407, 25219825, 26647789, 27873319, 30773851, 31228622, 31340547, 33407425, 34308964, 9192978	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17384651, 35711885, 37520249	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	8950161	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	11027429, 12556968, 1993222, 9136918	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	12925224		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	17428253		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	LHGDN	17900658		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	11529851		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	11529851		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	LHGDN	16614728		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	16102585, 20447117, 21295686, 23765217, 26530098, 27124644		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	11103795		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	LHGDN	17094467		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	28573541		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	24888624		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	LHGDN	17332242, 17900658		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10193332, 11108660, 11267940, 1336726, 16685266, 1732054, 17599361, 17896177, 18782450, 20679727, 23029355, 23485561, 24012720, 25363551, 25917868, 26474308, 29468542, 29956066, 31809870, 7547638, 7615356		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	14672398, 19234134, 20948315		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	14519645, 21760855		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	10353761		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21511813, 31228622, 9192978		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17047088, 31060523, 8077050		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	1630814, 24334458, 8599583		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	21699781		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10414500, 10451697, 12770752, 7526887		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26324336, 27629734		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11919466		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10612828, 11196205, 11477119, 11830547, 12068296, 1369744, 16934146, 16938365, 17047088, 17461478, 20447117, 21295686, 21615945, 22556269, 22581272, 22744425, 23595191, 24509483, 26032781, 26647789, 26902425, 27124644, 28392220, 28535939, 29468542, 3175651, 8074836, 8344484, 8344490, 8599583		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	2765366		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	21567202, 30957588		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	8344490		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	14672398, 19234134, 20948315		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12085226, 12096344, 16764854, 16966377, 17160137, 17671693, 18381962		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	14672398, 19234134, 20948315		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15026368, 21459801, 2543943, 25917868, 9018120		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	14672398, 19234134, 20948315		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	18391076		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	11577176, 12556968	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	10727462, 15803180, 16645588, 17218782, 17916908, 27776349, 28526299, 31980996, 8611425, 9862563	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	LHGDN	12140374, 15389561, 15547691, 16354195, 16916716, 17916908, 18677770		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	BEFREE	29750576, 8649798		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma	Melanoma	Pubtator	33670958	Inhibit	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma Cutaneous Malignant	Melanoma	Pubtator	10732752	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	LHGDN	18048012		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	22886530		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	24735260, 26022453, 9290960		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	8182933		★☆☆☆☆ Found in Text Mining only
Monosomy 13q14	Monosomy 13q14	Orphanet			★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	34983823	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	21781453, 26459309	Associate	★☆☆☆☆ Found in Text Mining only
Multiple lipomata	Multiple Lipomata	BEFREE	11571558		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10706856, 11529851, 12707095, 21133734, 8057662, 8182933, 8528059, 8555072		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	10706856, 10979940, 11278272, 11529851, 19135901, 24987674, 26474569, 28234347, 32345147, 8822942, 9207463	Associate	★☆☆☆☆ Found in Text Mining only
Mycoplasma-Induced Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	16614728	Inhibit	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	18832135	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	16213365, 16682076		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	10848828, 27741277	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	16213365	Inhibit	★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	18723266	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32013999, 32862607	Associate	★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10451697, 10502318, 10728677, 10980120, 11069472, 11087056, 11108660, 11204276, 11232643, 11474135, 11477119, 11529851, 11830547, 12187430, 12419581, 1336726, 1381957, 14586645, 14966529, 15138564, 15605413, 15843669, 1619684, 16213365, 16402033, 16461460, 16464796, 1662795, 1679382, 16936755, 16936756, 16988938, 17205527, 1732054, 17599361, 17896177, 18503160, 18760195, 19437535, 1988704, 19924135, 2006079, 20358387, 20679727, 20687510, 21241471, 21295686, 21511813, 21674866, 21763628, 22938432, 23093575, 23154086, 23178825, 23209449, 23289805, 24735260, 24935581, 25266839, 25363551, 2537532, 2543943, 25446844, 25754945, 25928201, 26310174, 26753011, 26802149, 27507850, 27634906, 28376177, 28392220, 28397259, 28771191, 2898730, 29049475, 29066508, 29261756, 29314142, 29413048, 29468541, 29963139, 30031020, 30303478, 30701538, 31176618, 31806970, 7655020, 7704558, 7953248, 7959682, 8033150, 8071962, 8074836, 8077050, 8110876, 8346255, 8418305, 8575214, 8649798, 8741802, 8834174, 9130611, 9426048, 9463382, 9507882, 9583687		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	10671068, 10966849, 11317357, 12016586, 12402348, 12502741, 12541220, 12955724, 1352883, 14722923, 14769601, 15166261, 15605413, 1577465, 15776430, 15884040, 16269091, 16343894, 16463005, 16972022, 17096365, 17960112, 18000883, 18181215, 18449911, 19280657, 19390654, 20041224, 20090211, 20447117, 21763628, 22084214, 22205104, 22219649, 22328814, 22963398, 23532519, 23981928, 24225018, 24688104, 24791139, 25424699, 25525159, 25712084, 25754945, 25758528, 25928201, 2594029, 26084579, 26396485, 26580448, 26787237, 26925970, 27021801, 27582626, 27983729, 28575107, 28724667, 28803391, 7704558, 7795591, 7881418, 7981694, 8346255, 8605116, 8651278, 9311732, 9400934, 9632788, 9671401, 9973307		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	8741802		★☆☆☆☆ Found in Text Mining only
Nervous System Neoplasms	Nervous System Neoplasms	BEFREE	12556968, 18239449		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11255727		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	18413728, 20577596, 23892435, 25377796, 31429199, 34893606, 36982482, 39217334	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	12556968, 18413802, 19414372, 34065204	Associate	★☆☆☆☆ Found in Text Mining only
Non-hereditary retinoblastoma	Non-Hereditary Retinoblastoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11165395, 11474135, 28535939, 29518612, 9036868		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	16862215		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	11267940		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23315497, 32377712	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	37049846	Associate	★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	25608559	Associate	★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	27251041		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	38050610	Associate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	30189895	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10331742, 14660307, 14679136, 1524989, 2036639, 22006429, 25092376, 26107195, 26503016, 26548607, 26676380, 2878716, 7479379, 8344484, 8374897, 8703379, 9665476		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	10817503, 11152455, 11418138, 14679136, 14728297, 1673287, 20465837, 20851996, 22006429, 24703847, 24835790, 26787232, 27124644, 27352193, 2740342, 2898730, 29706636, 2994066, 31236944, 31568710, 35412907, 36849151, 7479800, 8703379, 9665476, 9671466	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	ORPHANET_DG	11449317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	CTD_human_DG	27137931		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	9192669	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Diseases	Ovarian diseases	Pubtator	18507046, 31792669, 31878927	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	27593876	Inhibit	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	17047088, 31060523, 8077050		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11076658, 12149147, 15028555, 17047088, 17242700, 18431743, 18507046, 21278246, 21908773, 23176303, 23574718, 24336157, 25803614, 26577046, 28319064, 28734796, 29191971, 31060523, 31540229, 31709901, 32553118, 32877668, 34075060, 35735060, 36721777, 37511582	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	1630814, 24334458, 8599583		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	12532471		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	21699781		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	8599583		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21329664, 24293293, 28059098, 30535494	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	Pubtator	25273089, 40138743	Associate	★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	1321820	Associate	★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	2537532		★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	28881068		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	12528819		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	25182869, 34130600	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	Pubtator	36717865	Associate	★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile neoplasm	Pubtator	28751665	Associate	★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	34476575	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	31568710	Associate	★☆☆☆☆ Found in Text Mining only
Pineal Gland Neoplasm	Pineal Gland Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
pineoblastoma	Pineoblastoma	BEFREE	15214647		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	12940460	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	17216555		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	25603724, 30446843		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	25603724	Inhibit	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	11167295	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	15878620		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	23334668		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	7507704		★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	7761404	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10414500, 10451697, 8834174		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	7526887	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	14676836, 17616676		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17218785, 20948989, 21099103, 26195723, 26444865, 26520443, 26546618, 28059768, 29681457, 29921690, 30339521, 30458854, 30833416, 31134918, 31352849, 31525487, 31796516, 32019859, 32203070, 32460015, 32763409, 33115829, 33522043, 34168052, 34294873, 34462330, 34568716, 34889043, 35179959, 35304525, 35820087, 37183818, 37352376, 37725435, 37967200, 38429210, 9675141	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29202480, 9813067	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	29115643	Associate	★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	22909775	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	15136974	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31829519	Associate	★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	14499701		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	LHGDN	16682076		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30160343		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	26278805, 36818471	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	10023315, 10197629, 10353761, 10502774, 10612828, 10671068, 10728677, 10952243, 11281459, 11571558, 11668642, 11919466, 12016586, 12187430, 12402348, 12419581, 12541220, 12569181, 12955724, 1314630, 1336726, 1352883, 1354594, 14660307, 14722923, 14726655, 14966529, 15041221, 15254429, 15264269, 1544317, 15605413, 15643604, 1577465, 15798281, 15834944, 16102585, 16127685, 16463005, 16631255, 16799619, 16934146, 16988938, 17286450, 17318405, 1732054, 17543516, 17927523, 17960112, 17963824, 18073428, 18181215, 18239449, 18280773, 18503160, 18509746, 18782450, 1884351, 18973139, 19043380, 20059380, 2006079, 2036639, 20447117, 20607706, 20687510, 21152263, 21295686, 21387305, 21505449, 21615945, 21654082, 21763628, 21875955, 22112645, 22219649, 22556269, 22909775, 22916154, 2320588, 23233783, 23359405, 23441118, 23498719, 23532519, 23670186, 23756868, 23765217, 23826078, 24225018, 24412019, 24509483, 24688104, 24791139, 24858910, 24986829, 2523032, 25424699, 2543943, 25621664, 25636476, 25754945, 25928201, 26063518, 26396485, 26530098, 26539030, 26614428, 26753011, 26914665, 27382102, 27470361, 27582626, 2765366, 27879208, 28106538, 28211617, 28392220, 28575107, 28713896, 28803391, 2898730, 29261756, 29379195, 29414415, 29415984, 29579639, 29742327, 29750576, 29851531, 30031154, 30053065, 30427563, 31176618, 31207142, 3175621, 31781967, 31806026, 6205825, 7666401, 7704558, 7795591, 7947009, 7959682, 8074836, 8178820, 8344484, 8346255, 8364580, 8528059, 8570221, 8599583, 8695269, 8741802, 9104770, 9400934, 9671401, 9716009, 9931482		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinoblastoma	Retinoblastoma	Pubtator	10366578, 10631148, 10792382, 11533045, 12016586, 12541220, 1350208, 1352883, 14726655, 15166261, 15632311, 16061792, 1648218, 17609271, 18073428, 18503160, 19183342, 19252413, 19390654, 19491728, 19640284, 19653712, 20041760, 20607706, 20648557, 20664703, 20851996, 21253829, 21387305, 21505449, 21548012, 21615945, 22027510, 22203219, 22205104, 22219649, 22278416, 22336108, 22355046, 22909775, 22916154, 23224327, 23233783, 23441118, 23498719, 23756868, 24282159, 24406863, 24509483, 24755883, 24761912, 24791139, 24814393, 25403557, 25424699, 2556261, 25602518, 2569269, 25928201, 25999316, 2601691, 26117602, 26288838, 26396485, 26530098, 26539030, 26753011, 26925970, 27096027, 27126562, 27155049, 27318443, 27582626, 2765366, 27661116, 27879208, 27983729, 28000698, 28106538, 28193182, 28210099, 28211617, 28575107, 28668075, 28713896, 28780672, 28861107, 2898730, 29016839, 29143233, 29261756, 2927388, 29379195, 29415984, 29568217, 29579639, 29662154, 2994066, 30030888, 30223826, 30584916, 30636860, 30777982, 30996590, 31207142, 31404748, 31568710, 31736278, 31768671, 31806026, 31832685, 31916728, 31973216, 32139107, 32222358, 32277725, 32556071, 32633890, 32799607, 33063942, 33225895, 33258708, 33456302, 33760207, 33827698, 33913866, 34003213, 34294096, 34336010, 34552068, 34639028, 34656762, 34799705, 3480530, 35014072, 35288594, 35325233, 35361938, 35382685, 35412907, 35626705, 35867756, 35960463, 36173648, 36175480, 36342106, 36528757, 36543599, 36735656, 37191489, 37239954, 37536559, 37548407, 37682130, 37708614, 37777551, 37932687, 38040321, 38222455, 38300595, 38335663, 38452707, 38454873, 39738380, 39778672, 7666401, 7926730, 8131841, 8178820, 8217609, 8343223, 8346255, 8651278, 8703379, 8755916, 9224612, 9311732, 9400934, 9420334	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinoblastoma	Retinoblastoma	CLINVAR_DG	10486322, 10991691, 11189328, 11317357, 12016586, 12173465, 12541220, 1352883, 14722923, 15605413, 15643604, 15884040, 16269091, 16449662, 16463005, 16595082, 17096365, 18181215, 18449911, 18677112, 18682685, 19339519, 19390654, 20059380, 21520333, 22084214, 22180099, 22219649, 22328814, 22963398, 23532519, 23595191, 24078560, 24225018, 24336570, 24688104, 24791139, 25157968, 25602518, 25754945, 25928201, 2594029, 2601691, 26396485, 26530098, 26539030, 26787237, 26925970, 27155049, 27582626, 27879208, 28193182, 28575107, 29261756, 7704558, 7795591, 8605116, 8651278, 9341870, 9632788		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinoblastoma	Retinoblastoma	UNIPROT_DG	10671068, 11524739, 1352883, 2594029, 7704558, 7795591, 7927327, 8346255, 8605116, 8776589, 9140452, 9311732, 9973307		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinoblastoma	Retinoblastoma	Pubtator	11462030, 18782450, 21329664, 22232672, 22615382, 23826078, 24911651, 25252974, 26143641, 28575107, 29246572, 30312872, 30355646, 30996590, 32268247, 32390242, 33525094, 34315877, 34573300, 9192669, 9793651	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinoblastoma	Retinoblastoma	LHGDN	11668642, 12016586, 12362308, 12419581, 12459729, 15264269, 15389561, 15485920, 15502804, 16127685, 16315642, 16682285, 17286450, 17616526, 18181215, 18236071, 18383208, 18766991, 18779498		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinoblastoma	Retinoblastoma	GENOMICS_ENGLAND_DG	23788249, 28338660		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinoblastoma	Retinoblastoma	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinoblastoma	Retinoblastoma	CGI_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinoblastoma	Retinoblastoma	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	18386058, 2765366, 8418305		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	37593416	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	14730602		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30352835		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	11919466, 1381957, 1988704, 2216456, 2765366		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Sarcoma	Pubtator	15988141, 17094467, 29100075, 31568710, 36603130, 37536918, 7547254	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Sarcoma	Pubtator	2217208	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Sarcoma	CGI_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma Ewing	Sarcoma	Pubtator	11520274	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	15057823	Associate	★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	34445161	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	LHGDN	15809752		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	18478121		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	31806026		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	16614728	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sezary Syndrome	Sezary Syndrome	CTD_human_DG	26551667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sezary Syndrome	Sezary syndrome	Pubtator	26551667	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small cell carcinoma of lung	Lung carcinoma	CTD_human_DG	22941188, 22941189		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	ORPHANET_DG	26168399		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29025592, 29763719		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Small cell lung cancer	Lung Cancer	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	20615970, 2168563, 24978188, 25122428, 25758528, 25863124, 26008974, 26340530, 26647789, 26802149, 26960398, 27093186, 27105536, 27145273, 28228136, 28285684, 30773851, 31109352, 31199602, 31292388, 31781628, 31959344, 32600081, 33144445, 33880365, 34396834, 34645133, 35016432, 35596192, 35641209, 35792876, 35815661, 36044718, 36399634, 36528757, 36583000, 36705363, 36705391, 36717865, 36810856, 37390276, 38159439, 38237798, 39283755	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	28106103, 8052667, 9192669	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	1988704, 2765366		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	17896177		★☆☆☆☆ Found in Text Mining only
Sporadic Retinoblastoma	Retinoblastoma	BEFREE	12402348, 14660307, 24282159		★☆☆☆☆ Found in Text Mining only
Sporadic Retinoblastoma	Retinoblastoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11355167, 9861348		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma	Carcinoma	LHGDN	12377414, 17549378		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	10353761, 10446988, 17461478, 22938432		★☆☆☆☆ 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	10389982, 15083191, 16467168, 16623759, 20226061, 23778529, 24982332, 26265441, 28984303, 29443735, 30189895, 30949979, 33172332, 33767253, 33830464	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27507850	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	16623759, 27507850, 27859938		★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
Stickler syndrome type 3	Stickler syndrome	Pubtator	33063942	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26324336, 27629734		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	25631875, 34585958	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	12508351		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	15906946, 17131485, 26867682, 27629734, 29791595, 35969010, 37843333, 7947078	Associate	★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	32931935, 34493366	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	12925224		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	10980120		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	28392220		★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	Pubtator	25762640	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	17167184	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid cancer follicular	Follicular thyroid cancer	Pubtator	21983636	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	27610696	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	28489587	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	15136974, 29271997	Associate	★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	9507882		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trilateral Retinoblastoma	Trilateral Retinoblastoma	GENOMICS_ENGLAND_DG	23788249		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trilateral Retinoblastoma	Trilateral Retinoblastoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	19372580, 21593597, 24096545, 24265703, 25961742, 29915391, 30704524, 31836816, 32075943, 32242058, 32377705, 34396843, 34525987, 36203222	Associate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	14522882		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	29763719	Inhibit	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	10376969, 12865920, 12875971, 14728297, 15226775, 15790699, 16402033, 17311305, 17384651, 17702869, 18008359, 19846973, 23897969, 24459064, 27270441, 27699256, 27835695, 29524168, 30279572, 31233191, 33879103, 34953602, 36083778, 36528757, 36818471, 7710951, 7860618, 9436977	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Dysplasia	Uterine disease	Pubtator	11737469	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	40362654	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	10982822, 12657136, 15143339, 16004614, 1648218, 16740689, 17582001, 21835799, 2198278, 22692183, 23284001, 23874455, 30575267, 36807750, 36894874, 37699974, 9215125	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	39481992, 40362654	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	34162378	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	18981572	Associate	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	8741802		★☆☆☆☆ Found in Text Mining only
Vulvar Adenocarcinoma of Mammary Gland Type	Vulvar Adenocarcinoma Of Mammary Gland	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	40349989	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	27251041		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	22219649, 26925970	Associate	★☆☆☆☆ Found in Text Mining only
WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS	WOOLLY HAIR, WITH OR WITHOUT HYPOTRICHOSIS	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations