SMAD3 (SMAD family member 3)

Gene

• Entrez ID: 4088
• Gene name: SMAD family member 3
• Gene symbol: SMAD3
• Synonyms (NCBI Gene): HSPC193, HsT17436, JV15-2, LDS1C, LDS3, MADH3, hMAD-3, hSMAD3, mad3
• Chromosome: 15
• Chromosome location: 15q22.33
• Summary: The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene `mothers against decapentaplegic` (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming gr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs139616052	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs201263330	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs201912204	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Upstream transcript variant, intron variant, genic upstream transcript variant
rs202094530	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs387906850	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs387906851	C>T	Pathogenic	Coding sequence variant, missense variant
rs387906852	G>A	Pathogenic	Coding sequence variant, missense variant
rs387906853	G>A,T	Risk-factor, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs387906854	C>T	Uncertain-significance, pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, missense variant
rs387906855	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs387906856	G>A,C,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs587776880	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776881	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776882	G>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs587782977	G>A	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, upstream transcript variant
rs730880214	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880215	G>A,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs745672741	G>A,C	Pathogenic	Genic upstream transcript variant, intron variant, upstream transcript variant
rs753486471	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs753875974	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs757106110	C>A,T	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs768713596	C>T	Pathogenic, likely-pathogenic	5 prime UTR variant, upstream transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs770098673	G>C,T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs776577220	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs794727798	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs863223737	G>A,C	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs863223738	G>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs863223740	G>A	Uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs863223741	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs863223750	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs863223754	->C	Pathogenic	Frameshift variant, coding sequence variant
rs863223757	AG>-	Likely-pathogenic	Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs863223759	C>-	Pathogenic	Intron variant, upstream transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs863223761	T>C	Likely-pathogenic	Splice donor variant
rs863223762	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs863223768	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863223770	->A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs863223771	C>-	Pathogenic	Intron variant, upstream transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs886038770	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886038836	A>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs886039177	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs958007552	C>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, 5 prime UTR variant
rs1057518977	G>T	Likely-pathogenic	Genic upstream transcript variant, 5 prime UTR variant, missense variant, upstream transcript variant, coding sequence variant
rs1060500770	G>-,GGG	Pathogenic	Coding sequence variant, frameshift variant
rs1060500771	G>T	Likely-pathogenic	Splice donor variant
rs1060500773	CACAC>-	Pathogenic	Intron variant, frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1064794789	G>-	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1320208623	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555405108	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1555412069	->G	Pathogenic	Upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant, genic upstream transcript variant
rs1555412070	->GC	Pathogenic	Upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant, genic upstream transcript variant
rs1555412294	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1555412629	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555413562	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555414236	->TGTCTACCAGTTG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555414495	TCCTCACCCAGATGGG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555414503	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1566991387	G>A	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs1566999423	->GACA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566999458	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1566999601	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1566999610	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1566999621	AGCTGACACGGAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567002059	TAACCAGCGCTAT>GACACC	Pathogenic	Coding sequence variant, frameshift variant
rs1567002115	G>T	Pathogenic	Coding sequence variant, stop gained
rs1595941653	->GCC	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, inframe insertion, upstream transcript variant
rs1595941823	GC>CT	Likely-pathogenic	Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant
rs1595941909	C>-	Likely-pathogenic	Coding sequence variant, upstream transcript variant, frameshift variant, genic upstream transcript variant
rs1595942351	C>-	Pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1595956416	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1595956538	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1595956573	->CAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1595956832	G>A	Pathogenic	Splice donor variant
rs1595960347	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1595960447	C>T	Pathogenic	Coding sequence variant, stop gained
rs1595962708	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1595965925	TG>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007291	hsa-miR-200a-3p	Luciferase reporter assay	22020340
MIRT007291	hsa-miR-200a-3p	Luciferase reporter assay	22020340
MIRT007323	hsa-miR-18a-5p	Western blot	23249750
MIRT018567	hsa-miR-335-5p	Microarray	18185580
MIRT020918	hsa-miR-155-5p	Western blot	21036908
MIRT050933	hsa-miR-17-5p	CLASH	23622248
MIRT041360	hsa-miR-193b-3p	CLASH	23622248
MIRT053644	hsa-miR-143-3p	Microarray	22942087
MIRT053650	hsa-miR-145-5p	Microarray	22942087
MIRT041360	hsa-miR-193b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24496888
MIRT053650	hsa-miR-145-5p	Luciferase reporter assay, Western blot, qRT-PCR, ELISA, Immunofluorescence	24873879
MIRT053650	hsa-miR-145-5p	Luciferase reporter assay	23632450
MIRT053650	hsa-miR-145-5p	Luciferase reporter assay	23632450
MIRT438641	hsa-miR-92b-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23892108
MIRT438641	hsa-miR-92b-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23892108
MIRT438275	hsa-miR-491-5p	Luciferase reporter assay, qRT-PCR, Western blot	25196641
MIRT438244	gga-miR-489-3p	Luciferase reporter assay	24786471
MIRT438641	hsa-miR-92b-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23892108
MIRT438641	hsa-miR-92b-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23892108
MIRT438275	hsa-miR-491-5p	Luciferase reporter assay, qRT-PCR, Western blot	25196641
MIRT438244	gga-miR-489-3p	Luciferase reporter assay	24786471
MIRT072699	hsa-miR-3529-3p	PAR-CLIP	20371350
MIRT497692	hsa-miR-18a-3p	PAR-CLIP	22291592
MIRT497691	hsa-miR-4290	PAR-CLIP	22291592
MIRT140820	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT140825	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT140821	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT140827	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT731257	hsa-miR-323a-3p	CFPAC-1	26908446
MIRT731257	hsa-miR-323a-3p	CFPAC-1	26908446
MIRT140830	hsa-miR-497-5p	qRT-PCR	27063509
MIRT140830	hsa-miR-497-5p	qRT-PCR	27063509
MIRT731442	hsa-miR-708-5p	Luciferase reporter assay	26932538
MIRT731442	hsa-miR-708-5p	Luciferase reporter assay	26932538
MIRT731517	hsa-miR-199a-5p	Luciferase reporter assay	27038547
MIRT731517	hsa-miR-199a-5p	Luciferase reporter assay	27038547
MIRT731257	hsa-miR-323a-3p	Luciferase reporter assay	26908446
MIRT731257	hsa-miR-323a-3p	Luciferase reporter assay	26908446
MIRT193928	hsa-miR-142-5p	Luciferase reporter assay, qRT-PCR, Western blot	27683030
MIRT193928	hsa-miR-142-5p	Luciferase reporter assay, qRT-PCR, Western blot	27683030
MIRT193928	hsa-miR-142-5p	Luciferase reporter assay, qRT-PCR, Western blot	27683030
MIRT193928	hsa-miR-142-5p	Luciferase reporter assay, qRT-PCR, Western blot	27683030
MIRT193928	hsa-miR-142-5p	Luciferase reporter assay, qRT-PCR, Western blot	26572508
MIRT193928	hsa-miR-142-5p	Luciferase reporter assay, qRT-PCR, Western blot	26572508
MIRT732404	hsa-miR-145-3p	ELISA, Luciferase reporter assay, qRT-PCR	25704091
MIRT732404	hsa-miR-145-3p	ELISA, Luciferase reporter assay, qRT-PCR	25704091
MIRT731257	hsa-miR-323a-3p	qRT-PCR	27059796
MIRT732672	hsa-miR-32-5p	Luciferase reporter assay, qRT-PCR, Western blotting	33758603
MIRT733468	hsa-miR-665	Luciferase reporter assay, qRT-PCR, Western blotting	34196584
MIRT733506	hsa-miR-371a-5p	qRT-PCR	34150008
MIRT733509	hsa-miR-410-3p	qRT-PCR	34150008
MIRT733549	hsa-miR-486-3p	Immunofluorescence, Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR, Western blotting	34080770
MIRT733641	hsa-miR-501-5p	Microarray, qRT-PCR, Western blotting	33968296
MIRT734020	hsa-miR-411-5p	Flow cytometry, Luciferase reporter assay, qRT-PCR, Western blotting	34169675
MIRT734020	hsa-miR-411-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blotting	34169675
MIRT734617	hsa-miR-7641	Immunohistochemistry (IHC), Immunofluorescence, qRT-PCR	32823722
MIRT734890	hsa-miR-497-3p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR	33363213
MIRT734891	hsa-miR-195-3p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR	33363213
MIRT735295	hsa-miR-192-3p	Immunohistochemistry (IHC), In situ hybridization	32420596
MIRT735826	hsa-miR-216b-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR	32668597
MIRT735910	hsa-miR-346	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR, In situ hybridization	33520980
MIRT732404	hsa-miR-145-3p	Luciferase reporter assay	33637048
MIRT053650	hsa-miR-145-5p	Luciferase reporter assay, Western blotting	33637048
MIRT736625	hsa-miR-1255b-5p	Western blotting, Immunohistochemistry (IHC), qRT-PCR	32679610
MIRT050933	hsa-miR-17-5p	Luciferase reporter assay, Western blotting, qRT-PCR, In situ hybridization	31558704
MIRT737493	hsa-miR-29b-3p	Western blotting, Immunohistochemistry (IHC), ELISA	33763150
MIRT737551	hsa-miR-27a-3p	Western blotting, Microarray	31452017
MIRT737567	hsa-miR-182-3p	Luciferase reporter assay, qRT-PCR	32067333
MIRT739142	hsa-miR-4253	HITS-CLIP	33718276
MIRT739145	hsa-miR-1285	HITS-CLIP	33718276
MIRT739146	hsa-miR-612	HITS-CLIP	33718276
MIRT739147	hsa-miR-4487	HITS-CLIP	33718276
MIRT739148	hsa-miR-4756-3p	HITS-CLIP	33718276
MIRT739142	hsa-miR-4253	HITS-CLIP	33718276
MIRT739145	hsa-miR-1285	HITS-CLIP	33718276
MIRT072699	hsa-miR-3529-3p	PAR-CLIP	20371350
MIRT497692	hsa-miR-18a-3p	PAR-CLIP	22291592
MIRT497691	hsa-miR-4290	PAR-CLIP	22291592
MIRT193928	hsa-miR-142-5p	Luciferase reporter assay, Western blotting, qRT-PCR, In situ hybridization, RNA pull down assay	34486400
MIRT734020	hsa-miR-411-5p	Luciferase reporter assay, Western blotting, qRT-PCR	34169675
MIRT756400	hsa-miR-122-5p	Luciferase reporter assay, Western blotting, qRT-PCR	36982775
MIRT1370627	hsa-miR-1291	CLIP-seq
MIRT1370628	hsa-miR-3125	CLIP-seq
MIRT1370629	hsa-miR-3184	CLIP-seq
MIRT1370630	hsa-miR-328	CLIP-seq
MIRT1370631	hsa-miR-3916	CLIP-seq
MIRT1370632	hsa-miR-423-5p	CLIP-seq
MIRT1370633	hsa-miR-4257	CLIP-seq
MIRT1370634	hsa-miR-4330	CLIP-seq
MIRT1370635	hsa-miR-105	CLIP-seq
MIRT1370636	hsa-miR-1197	CLIP-seq
MIRT1370637	hsa-miR-1202	CLIP-seq
MIRT1370638	hsa-miR-1206	CLIP-seq
MIRT1370639	hsa-miR-1207-5p	CLIP-seq
MIRT1370640	hsa-miR-1227	CLIP-seq
MIRT1370641	hsa-miR-1261	CLIP-seq
MIRT1370642	hsa-miR-1271	CLIP-seq
MIRT1370643	hsa-miR-1273f	CLIP-seq
MIRT1370644	hsa-miR-1284	CLIP-seq
MIRT1370645	hsa-miR-1290	CLIP-seq
MIRT1370627	hsa-miR-1291	CLIP-seq
MIRT1370646	hsa-miR-1305	CLIP-seq
MIRT1370647	hsa-miR-145	CLIP-seq
MIRT1370648	hsa-miR-146a	CLIP-seq
MIRT1370649	hsa-miR-146b-5p	CLIP-seq
MIRT1370650	hsa-miR-1470	CLIP-seq
MIRT1370651	hsa-miR-153	CLIP-seq
MIRT1370652	hsa-miR-15a	CLIP-seq
MIRT1370653	hsa-miR-15b	CLIP-seq
MIRT1370654	hsa-miR-16	CLIP-seq
MIRT1370655	hsa-miR-181a	CLIP-seq
MIRT1370656	hsa-miR-181b	CLIP-seq
MIRT1370657	hsa-miR-181c	CLIP-seq
MIRT1370658	hsa-miR-181d	CLIP-seq
MIRT1370659	hsa-miR-182	CLIP-seq
MIRT1370660	hsa-miR-1827	CLIP-seq
MIRT1370661	hsa-miR-186	CLIP-seq
MIRT1370662	hsa-miR-1908	CLIP-seq
MIRT1370663	hsa-miR-1909	CLIP-seq
MIRT1370664	hsa-miR-1915	CLIP-seq
MIRT1370665	hsa-miR-195	CLIP-seq
MIRT1370666	hsa-miR-1976	CLIP-seq
MIRT1370667	hsa-miR-198	CLIP-seq
MIRT1370668	hsa-miR-216b	CLIP-seq
MIRT1370669	hsa-miR-224	CLIP-seq
MIRT1370670	hsa-miR-2276	CLIP-seq
MIRT1370671	hsa-miR-2355-5p	CLIP-seq
MIRT1370672	hsa-miR-23a	CLIP-seq
MIRT1370673	hsa-miR-23b	CLIP-seq
MIRT1370674	hsa-miR-23c	CLIP-seq
MIRT1370675	hsa-miR-2861	CLIP-seq
MIRT1370676	hsa-miR-302f	CLIP-seq
MIRT1370677	hsa-miR-3064-3p	CLIP-seq
MIRT1370678	hsa-miR-3117-5p	CLIP-seq
MIRT1370679	hsa-miR-3119	CLIP-seq
MIRT1370628	hsa-miR-3125	CLIP-seq
MIRT1370680	hsa-miR-3127-3p	CLIP-seq
MIRT1370681	hsa-miR-3133	CLIP-seq
MIRT1370682	hsa-miR-3144-5p	CLIP-seq
MIRT1370683	hsa-miR-3166	CLIP-seq
MIRT1370684	hsa-miR-3173-5p	CLIP-seq
MIRT1370685	hsa-miR-3175	CLIP-seq
MIRT1370629	hsa-miR-3184	CLIP-seq
MIRT1370686	hsa-miR-3186-3p	CLIP-seq
MIRT739144	hsa-miR-3187-5p	CLIP-seq
MIRT1370687	hsa-miR-3191	CLIP-seq
MIRT1370688	hsa-miR-3192	CLIP-seq
MIRT1370689	hsa-miR-3194-5p	CLIP-seq
MIRT1370630	hsa-miR-328	CLIP-seq
MIRT1370690	hsa-miR-3606	CLIP-seq
MIRT1370691	hsa-miR-3609	CLIP-seq
MIRT1370692	hsa-miR-3617	CLIP-seq
MIRT1370693	hsa-miR-3622a-3p	CLIP-seq
MIRT1370694	hsa-miR-3622b-3p	CLIP-seq
MIRT1370695	hsa-miR-3662	CLIP-seq
MIRT1370696	hsa-miR-3676	CLIP-seq
MIRT1370697	hsa-miR-3679-3p	CLIP-seq
MIRT1370698	hsa-miR-3689a-5p	CLIP-seq
MIRT1370699	hsa-miR-3689b	CLIP-seq
MIRT1370700	hsa-miR-3689e	CLIP-seq
MIRT1370701	hsa-miR-3689f	CLIP-seq
MIRT1370702	hsa-miR-370	CLIP-seq
MIRT1370703	hsa-miR-377	CLIP-seq
MIRT1370631	hsa-miR-3916	CLIP-seq
MIRT739149	hsa-miR-3919	CLIP-seq
MIRT1370704	hsa-miR-3938	CLIP-seq
MIRT739143	hsa-miR-3945	CLIP-seq
MIRT1370705	hsa-miR-3972	CLIP-seq
MIRT1370706	hsa-miR-3973	CLIP-seq
MIRT1370707	hsa-miR-3977	CLIP-seq
MIRT1370708	hsa-miR-409-3p	CLIP-seq
MIRT1370709	hsa-miR-412	CLIP-seq
MIRT1370632	hsa-miR-423-5p	CLIP-seq
MIRT1370710	hsa-miR-424	CLIP-seq
MIRT1370633	hsa-miR-4257	CLIP-seq
MIRT1370711	hsa-miR-4262	CLIP-seq
MIRT1370712	hsa-miR-4263	CLIP-seq
MIRT1370713	hsa-miR-4300	CLIP-seq
MIRT1370714	hsa-miR-432	CLIP-seq
MIRT1370715	hsa-miR-433	CLIP-seq
MIRT1370634	hsa-miR-4330	CLIP-seq
MIRT1370716	hsa-miR-4436b-3p	CLIP-seq
MIRT1370717	hsa-miR-4446-5p	CLIP-seq
MIRT1370718	hsa-miR-4457	CLIP-seq
MIRT1370719	hsa-miR-4459	CLIP-seq
MIRT1370720	hsa-miR-4476	CLIP-seq
MIRT1370721	hsa-miR-448	CLIP-seq
MIRT1370722	hsa-miR-4490	CLIP-seq
MIRT1370723	hsa-miR-4493	CLIP-seq
MIRT1370724	hsa-miR-4512	CLIP-seq
MIRT1370725	hsa-miR-4519	CLIP-seq
MIRT1370726	hsa-miR-4527	CLIP-seq
MIRT1370727	hsa-miR-4533	CLIP-seq
MIRT1370728	hsa-miR-455-5p	CLIP-seq
MIRT1370729	hsa-miR-4643	CLIP-seq
MIRT1370730	hsa-miR-4652-5p	CLIP-seq
MIRT1370731	hsa-miR-4661-3p	CLIP-seq
MIRT1370732	hsa-miR-4666-5p	CLIP-seq
MIRT1370733	hsa-miR-4667-3p	CLIP-seq
MIRT1370734	hsa-miR-4684-3p	CLIP-seq
MIRT1370735	hsa-miR-4685-5p	CLIP-seq
MIRT1370736	hsa-miR-4687-5p	CLIP-seq
MIRT1370737	hsa-miR-4688	CLIP-seq
MIRT1370738	hsa-miR-4690-3p	CLIP-seq
MIRT1370739	hsa-miR-4699-5p	CLIP-seq
MIRT1370740	hsa-miR-4700-3p	CLIP-seq
MIRT1370741	hsa-miR-4706	CLIP-seq
MIRT1370742	hsa-miR-4708-3p	CLIP-seq
MIRT1370743	hsa-miR-4731-5p	CLIP-seq
MIRT1370744	hsa-miR-4734	CLIP-seq
MIRT1370745	hsa-miR-4749-5p	CLIP-seq
MIRT1370746	hsa-miR-4753-3p	CLIP-seq
MIRT1370747	hsa-miR-4761-5p	CLIP-seq
MIRT1370748	hsa-miR-4763-3p	CLIP-seq
MIRT1370749	hsa-miR-4765	CLIP-seq
MIRT1370750	hsa-miR-4767	CLIP-seq
MIRT1370751	hsa-miR-4773	CLIP-seq
MIRT1370752	hsa-miR-4774-5p	CLIP-seq
MIRT1370753	hsa-miR-4786-3p	CLIP-seq
MIRT1370754	hsa-miR-493	CLIP-seq
MIRT1370755	hsa-miR-497	CLIP-seq
MIRT1370756	hsa-miR-501-3p	CLIP-seq
MIRT1370757	hsa-miR-502-3p	CLIP-seq
MIRT1370758	hsa-miR-513b	CLIP-seq
MIRT1370759	hsa-miR-513c	CLIP-seq
MIRT1370760	hsa-miR-514b-5p	CLIP-seq
MIRT1370761	hsa-miR-520g	CLIP-seq
MIRT1370762	hsa-miR-520h	CLIP-seq
MIRT1370763	hsa-miR-548ag	CLIP-seq
MIRT1370764	hsa-miR-548ah	CLIP-seq
MIRT1370765	hsa-miR-548ai	CLIP-seq
MIRT1370766	hsa-miR-548c-3p	CLIP-seq
MIRT1370767	hsa-miR-580	CLIP-seq
MIRT1370768	hsa-miR-589	CLIP-seq
MIRT1370769	hsa-miR-607	CLIP-seq
MIRT1370770	hsa-miR-616	CLIP-seq
MIRT1370771	hsa-miR-618	CLIP-seq
MIRT1370772	hsa-miR-641	CLIP-seq
MIRT1370773	hsa-miR-663	CLIP-seq
MIRT1370774	hsa-miR-671-5p	CLIP-seq
MIRT1370775	hsa-miR-759	CLIP-seq
MIRT1370776	hsa-miR-920	CLIP-seq
MIRT1370777	hsa-miR-939	CLIP-seq
MIRT1370778	hsa-miR-96	CLIP-seq
MIRT1553855	hsa-miR-4667-5p	CLIP-seq
MIRT1553856	hsa-miR-4700-5p	CLIP-seq
MIRT1553857	hsa-miR-4723-5p	CLIP-seq
MIRT1553858	hsa-miR-4728-5p	CLIP-seq
MIRT1553859	hsa-miR-637	CLIP-seq
MIRT739144	hsa-miR-3187-5p	CLIP-seq
MIRT739149	hsa-miR-3919	CLIP-seq
MIRT739143	hsa-miR-3945	CLIP-seq
MIRT2109994	hsa-miR-371b-5p	CLIP-seq
MIRT2109995	hsa-miR-4420	CLIP-seq
MIRT2109996	hsa-miR-4789-5p	CLIP-seq
MIRT2109997	hsa-miR-617	CLIP-seq
MIRT2109998	hsa-miR-619	CLIP-seq
MIRT2109999	hsa-miR-1236	CLIP-seq
MIRT2110000	hsa-miR-1910	CLIP-seq
MIRT1370664	hsa-miR-1915	CLIP-seq
MIRT2110001	hsa-miR-4303	CLIP-seq
MIRT1370750	hsa-miR-4767	CLIP-seq
MIRT1370679	hsa-miR-3119	CLIP-seq
MIRT1370680	hsa-miR-3127-3p	CLIP-seq
MIRT739144	hsa-miR-3187-5p	CLIP-seq
MIRT1370693	hsa-miR-3622a-3p	CLIP-seq
MIRT1370694	hsa-miR-3622b-3p	CLIP-seq
MIRT1370697	hsa-miR-3679-3p	CLIP-seq
MIRT739149	hsa-miR-3919	CLIP-seq
MIRT739143	hsa-miR-3945	CLIP-seq
MIRT1370709	hsa-miR-412	CLIP-seq
MIRT2333491	hsa-miR-4251	CLIP-seq
MIRT2110001	hsa-miR-4303	CLIP-seq
MIRT1370717	hsa-miR-4446-5p	CLIP-seq
MIRT2333492	hsa-miR-4505	CLIP-seq
MIRT2333493	hsa-miR-4646-5p	CLIP-seq
MIRT2109998	hsa-miR-619	CLIP-seq
MIRT1370635	hsa-miR-105	CLIP-seq
MIRT1370627	hsa-miR-1291	CLIP-seq
MIRT2440562	hsa-miR-1298	CLIP-seq
MIRT1370648	hsa-miR-146a	CLIP-seq
MIRT1370649	hsa-miR-146b-5p	CLIP-seq
MIRT1370666	hsa-miR-1976	CLIP-seq
MIRT1370668	hsa-miR-216b	CLIP-seq
MIRT1370628	hsa-miR-3125	CLIP-seq
MIRT1370629	hsa-miR-3184	CLIP-seq
MIRT1370630	hsa-miR-328	CLIP-seq
MIRT1370702	hsa-miR-370	CLIP-seq
MIRT1370631	hsa-miR-3916	CLIP-seq
MIRT1370707	hsa-miR-3977	CLIP-seq
MIRT1370632	hsa-miR-423-5p	CLIP-seq
MIRT1370633	hsa-miR-4257	CLIP-seq
MIRT2440563	hsa-miR-4310	CLIP-seq
MIRT1370715	hsa-miR-433	CLIP-seq
MIRT1370634	hsa-miR-4330	CLIP-seq
MIRT1370724	hsa-miR-4512	CLIP-seq
MIRT1370746	hsa-miR-4753-3p	CLIP-seq
MIRT2440564	hsa-miR-4786-5p	CLIP-seq
MIRT1370768	hsa-miR-589	CLIP-seq
MIRT2440565	hsa-miR-662	CLIP-seq
MIRT2440566	hsa-miR-769-5p	CLIP-seq
MIRT1370635	hsa-miR-105	CLIP-seq
MIRT1370638	hsa-miR-1206	CLIP-seq
MIRT2627683	hsa-miR-122	CLIP-seq
MIRT2109999	hsa-miR-1236	CLIP-seq
MIRT2627684	hsa-miR-1249	CLIP-seq
MIRT2627685	hsa-miR-1254	CLIP-seq
MIRT1370643	hsa-miR-1273f	CLIP-seq
MIRT1370644	hsa-miR-1284	CLIP-seq
MIRT2627686	hsa-miR-1287	CLIP-seq
MIRT1370627	hsa-miR-1291	CLIP-seq
MIRT2627687	hsa-miR-129-3p	CLIP-seq
MIRT2440562	hsa-miR-1298	CLIP-seq
MIRT1370646	hsa-miR-1305	CLIP-seq
MIRT2627688	hsa-miR-1323	CLIP-seq
MIRT2627689	hsa-miR-139-5p	CLIP-seq
MIRT2627690	hsa-miR-143	CLIP-seq
MIRT1370647	hsa-miR-145	CLIP-seq
MIRT1370648	hsa-miR-146a	CLIP-seq
MIRT1370649	hsa-miR-146b-5p	CLIP-seq
MIRT1370650	hsa-miR-1470	CLIP-seq
MIRT1370651	hsa-miR-153	CLIP-seq
MIRT1370660	hsa-miR-1827	CLIP-seq
MIRT2627691	hsa-miR-188-3p	CLIP-seq
MIRT2627692	hsa-miR-18a	CLIP-seq
MIRT2627693	hsa-miR-18b	CLIP-seq
MIRT2110000	hsa-miR-1910	CLIP-seq
MIRT2627694	hsa-miR-1914	CLIP-seq
MIRT1370666	hsa-miR-1976	CLIP-seq
MIRT2627695	hsa-miR-2110	CLIP-seq
MIRT2627696	hsa-miR-214	CLIP-seq
MIRT1370668	hsa-miR-216b	CLIP-seq
MIRT1370671	hsa-miR-2355-5p	CLIP-seq
MIRT1370677	hsa-miR-3064-3p	CLIP-seq
MIRT2627697	hsa-miR-3116	CLIP-seq
MIRT1370678	hsa-miR-3117-5p	CLIP-seq
MIRT1370628	hsa-miR-3125	CLIP-seq
MIRT2627698	hsa-miR-3126-5p	CLIP-seq
MIRT1370680	hsa-miR-3127-3p	CLIP-seq
MIRT2627699	hsa-miR-3135b	CLIP-seq
MIRT2627700	hsa-miR-3137	CLIP-seq
MIRT2627701	hsa-miR-3149	CLIP-seq
MIRT2627702	hsa-miR-3150a-3p	CLIP-seq
MIRT2627703	hsa-miR-3150a-5p	CLIP-seq
MIRT2627704	hsa-miR-3150b-5p	CLIP-seq
MIRT2627705	hsa-miR-3152-5p	CLIP-seq
MIRT1370684	hsa-miR-3173-5p	CLIP-seq
MIRT1370685	hsa-miR-3175	CLIP-seq
MIRT1370629	hsa-miR-3184	CLIP-seq
MIRT739144	hsa-miR-3187-5p	CLIP-seq
MIRT2627706	hsa-miR-3188	CLIP-seq
MIRT2627707	hsa-miR-326	CLIP-seq
MIRT1370630	hsa-miR-328	CLIP-seq
MIRT2627708	hsa-miR-330-5p	CLIP-seq
MIRT2627709	hsa-miR-331-5p	CLIP-seq
MIRT2627710	hsa-miR-338-3p	CLIP-seq
MIRT2627711	hsa-miR-3618	CLIP-seq
MIRT2627712	hsa-miR-3619-5p	CLIP-seq
MIRT2627713	hsa-miR-3651	CLIP-seq
MIRT2627714	hsa-miR-3657	CLIP-seq
MIRT2627715	hsa-miR-3664-3p	CLIP-seq
MIRT2627716	hsa-miR-3667-3p	CLIP-seq
MIRT2627717	hsa-miR-3685	CLIP-seq
MIRT2627718	hsa-miR-3686	CLIP-seq
MIRT1370698	hsa-miR-3689a-5p	CLIP-seq
MIRT1370699	hsa-miR-3689b	CLIP-seq
MIRT1370700	hsa-miR-3689e	CLIP-seq
MIRT1370701	hsa-miR-3689f	CLIP-seq
MIRT2627719	hsa-miR-3691-3p	CLIP-seq
MIRT1370702	hsa-miR-370	CLIP-seq
MIRT2627720	hsa-miR-371-5p	CLIP-seq
MIRT2109994	hsa-miR-371b-5p	CLIP-seq
MIRT1370703	hsa-miR-377	CLIP-seq
MIRT2627721	hsa-miR-384	CLIP-seq
MIRT2627722	hsa-miR-3907	CLIP-seq
MIRT2627723	hsa-miR-3909	CLIP-seq
MIRT1370631	hsa-miR-3916	CLIP-seq
MIRT739149	hsa-miR-3919	CLIP-seq
MIRT2627724	hsa-miR-3926	CLIP-seq
MIRT2627725	hsa-miR-3940-5p	CLIP-seq
MIRT2627726	hsa-miR-3942-3p	CLIP-seq
MIRT739143	hsa-miR-3945	CLIP-seq
MIRT1370707	hsa-miR-3977	CLIP-seq
MIRT1370632	hsa-miR-423-5p	CLIP-seq
MIRT1370633	hsa-miR-4257	CLIP-seq
MIRT2627727	hsa-miR-4261	CLIP-seq
MIRT2627728	hsa-miR-4267	CLIP-seq
MIRT2627729	hsa-miR-4268	CLIP-seq
MIRT2627730	hsa-miR-4276	CLIP-seq
MIRT2627731	hsa-miR-4293	CLIP-seq
MIRT2627732	hsa-miR-4305	CLIP-seq
MIRT2440563	hsa-miR-4310	CLIP-seq
MIRT1370715	hsa-miR-433	CLIP-seq
MIRT1370634	hsa-miR-4330	CLIP-seq
MIRT2627733	hsa-miR-4418	CLIP-seq
MIRT2627734	hsa-miR-4419a	CLIP-seq
MIRT2627735	hsa-miR-4422	CLIP-seq
MIRT2627736	hsa-miR-4433	CLIP-seq
MIRT2627737	hsa-miR-4448	CLIP-seq
MIRT1370718	hsa-miR-4457	CLIP-seq
MIRT1370719	hsa-miR-4459	CLIP-seq
MIRT2627738	hsa-miR-4469	CLIP-seq
MIRT1370720	hsa-miR-4476	CLIP-seq
MIRT1370721	hsa-miR-448	CLIP-seq
MIRT2333492	hsa-miR-4505	CLIP-seq
MIRT2627739	hsa-miR-4506	CLIP-seq
MIRT2627740	hsa-miR-4507	CLIP-seq
MIRT2627741	hsa-miR-4510	CLIP-seq
MIRT1370724	hsa-miR-4512	CLIP-seq
MIRT1370726	hsa-miR-4527	CLIP-seq
MIRT2627742	hsa-miR-4530	CLIP-seq
MIRT2627743	hsa-miR-4650-5p	CLIP-seq
MIRT2627744	hsa-miR-4652-3p	CLIP-seq
MIRT2627745	hsa-miR-4659a-3p	CLIP-seq
MIRT2627746	hsa-miR-4659a-5p	CLIP-seq
MIRT2627747	hsa-miR-4659b-3p	CLIP-seq
MIRT2627748	hsa-miR-4659b-5p	CLIP-seq
MIRT1370732	hsa-miR-4666-5p	CLIP-seq
MIRT1370733	hsa-miR-4667-3p	CLIP-seq
MIRT2627749	hsa-miR-4669	CLIP-seq
MIRT2627750	hsa-miR-4678	CLIP-seq
MIRT2627751	hsa-miR-4680-5p	CLIP-seq
MIRT1370736	hsa-miR-4687-5p	CLIP-seq
MIRT1370737	hsa-miR-4688	CLIP-seq
MIRT2627752	hsa-miR-4695-5p	CLIP-seq
MIRT2627753	hsa-miR-4698	CLIP-seq
MIRT2627754	hsa-miR-4708-5p	CLIP-seq
MIRT2627755	hsa-miR-4722-3p	CLIP-seq
MIRT2627756	hsa-miR-4731-3p	CLIP-seq
MIRT1370743	hsa-miR-4731-5p	CLIP-seq
MIRT2627757	hsa-miR-4733-5p	CLIP-seq
MIRT1370744	hsa-miR-4734	CLIP-seq
MIRT2627758	hsa-miR-4735-3p	CLIP-seq
MIRT1370746	hsa-miR-4753-3p	CLIP-seq
MIRT2627759	hsa-miR-4755-3p	CLIP-seq
MIRT1370747	hsa-miR-4761-5p	CLIP-seq
MIRT2627760	hsa-miR-4763-5p	CLIP-seq
MIRT1370750	hsa-miR-4767	CLIP-seq
MIRT2627761	hsa-miR-4768-3p	CLIP-seq
MIRT2627762	hsa-miR-4770	CLIP-seq
MIRT2627763	hsa-miR-4774-3p	CLIP-seq
MIRT2627764	hsa-miR-4778-3p	CLIP-seq
MIRT1370753	hsa-miR-4786-3p	CLIP-seq
MIRT2440564	hsa-miR-4786-5p	CLIP-seq
MIRT2627765	hsa-miR-4801	CLIP-seq
MIRT2627766	hsa-miR-494	CLIP-seq
MIRT1370756	hsa-miR-501-3p	CLIP-seq
MIRT1370757	hsa-miR-502-3p	CLIP-seq
MIRT2627767	hsa-miR-502-5p	CLIP-seq
MIRT2627768	hsa-miR-509-3-5p	CLIP-seq
MIRT2627769	hsa-miR-509-5p	CLIP-seq
MIRT1370758	hsa-miR-513b	CLIP-seq
MIRT1370759	hsa-miR-513c	CLIP-seq
MIRT1370760	hsa-miR-514b-5p	CLIP-seq
MIRT2627770	hsa-miR-515-5p	CLIP-seq
MIRT2627771	hsa-miR-517b	CLIP-seq
MIRT2627772	hsa-miR-526b	CLIP-seq
MIRT1370763	hsa-miR-548ag	CLIP-seq
MIRT1370765	hsa-miR-548ai	CLIP-seq
MIRT1370766	hsa-miR-548c-3p	CLIP-seq
MIRT2627773	hsa-miR-548o	CLIP-seq
MIRT2627774	hsa-miR-548s	CLIP-seq
MIRT2627775	hsa-miR-549	CLIP-seq
MIRT2627776	hsa-miR-552	CLIP-seq
MIRT2627777	hsa-miR-570	CLIP-seq
MIRT2627778	hsa-miR-579	CLIP-seq
MIRT1370767	hsa-miR-580	CLIP-seq
MIRT1370768	hsa-miR-589	CLIP-seq
MIRT2627779	hsa-miR-596	CLIP-seq
MIRT2627780	hsa-miR-603	CLIP-seq
MIRT1370769	hsa-miR-607	CLIP-seq
MIRT2627781	hsa-miR-609	CLIP-seq
MIRT1370771	hsa-miR-618	CLIP-seq
MIRT2109998	hsa-miR-619	CLIP-seq
MIRT2627782	hsa-miR-629	CLIP-seq
MIRT2627783	hsa-miR-633	CLIP-seq
MIRT2627784	hsa-miR-645	CLIP-seq
MIRT2627785	hsa-miR-646	CLIP-seq
MIRT2440565	hsa-miR-662	CLIP-seq
MIRT1370774	hsa-miR-671-5p	CLIP-seq
MIRT2627786	hsa-miR-676	CLIP-seq
MIRT2627787	hsa-miR-761	CLIP-seq
MIRT2627788	hsa-miR-767-5p	CLIP-seq
MIRT2440566	hsa-miR-769-5p	CLIP-seq
MIRT2627789	hsa-miR-875-3p	CLIP-seq
MIRT1370777	hsa-miR-939	CLIP-seq
MIRT1370635	hsa-miR-105	CLIP-seq
MIRT1370638	hsa-miR-1206	CLIP-seq
MIRT2109999	hsa-miR-1236	CLIP-seq
MIRT2627684	hsa-miR-1249	CLIP-seq
MIRT1370627	hsa-miR-1291	CLIP-seq
MIRT2440562	hsa-miR-1298	CLIP-seq
MIRT2627688	hsa-miR-1323	CLIP-seq
MIRT2627689	hsa-miR-139-5p	CLIP-seq
MIRT1370647	hsa-miR-145	CLIP-seq
MIRT1370648	hsa-miR-146a	CLIP-seq
MIRT1370649	hsa-miR-146b-5p	CLIP-seq
MIRT1370650	hsa-miR-1470	CLIP-seq
MIRT1370660	hsa-miR-1827	CLIP-seq
MIRT2627691	hsa-miR-188-3p	CLIP-seq
MIRT2627692	hsa-miR-18a	CLIP-seq
MIRT2627693	hsa-miR-18b	CLIP-seq
MIRT2627694	hsa-miR-1914	CLIP-seq
MIRT1370666	hsa-miR-1976	CLIP-seq
MIRT2627695	hsa-miR-2110	CLIP-seq
MIRT1370668	hsa-miR-216b	CLIP-seq
MIRT1370671	hsa-miR-2355-5p	CLIP-seq
MIRT1370677	hsa-miR-3064-3p	CLIP-seq
MIRT1370628	hsa-miR-3125	CLIP-seq
MIRT2627698	hsa-miR-3126-5p	CLIP-seq
MIRT1370680	hsa-miR-3127-3p	CLIP-seq
MIRT2627700	hsa-miR-3137	CLIP-seq
MIRT2627702	hsa-miR-3150a-3p	CLIP-seq
MIRT2627703	hsa-miR-3150a-5p	CLIP-seq
MIRT2627704	hsa-miR-3150b-5p	CLIP-seq
MIRT2627705	hsa-miR-3152-5p	CLIP-seq
MIRT1370684	hsa-miR-3173-5p	CLIP-seq
MIRT1370685	hsa-miR-3175	CLIP-seq
MIRT739144	hsa-miR-3187-5p	CLIP-seq
MIRT2627706	hsa-miR-3188	CLIP-seq
MIRT2691358	hsa-miR-323-5p	CLIP-seq
MIRT2627707	hsa-miR-326	CLIP-seq
MIRT1370630	hsa-miR-328	CLIP-seq
MIRT2627708	hsa-miR-330-5p	CLIP-seq
MIRT2627709	hsa-miR-331-5p	CLIP-seq
MIRT2627711	hsa-miR-3618	CLIP-seq
MIRT2627714	hsa-miR-3657	CLIP-seq
MIRT2627715	hsa-miR-3664-3p	CLIP-seq
MIRT2627716	hsa-miR-3667-3p	CLIP-seq
MIRT2627717	hsa-miR-3685	CLIP-seq
MIRT2627718	hsa-miR-3686	CLIP-seq
MIRT1370698	hsa-miR-3689a-5p	CLIP-seq
MIRT1370699	hsa-miR-3689b	CLIP-seq
MIRT1370700	hsa-miR-3689e	CLIP-seq
MIRT1370701	hsa-miR-3689f	CLIP-seq
MIRT2627719	hsa-miR-3691-3p	CLIP-seq
MIRT1370702	hsa-miR-370	CLIP-seq
MIRT2627720	hsa-miR-371-5p	CLIP-seq
MIRT2109994	hsa-miR-371b-5p	CLIP-seq
MIRT1370703	hsa-miR-377	CLIP-seq
MIRT2627721	hsa-miR-384	CLIP-seq
MIRT2627722	hsa-miR-3907	CLIP-seq
MIRT2627723	hsa-miR-3909	CLIP-seq
MIRT1370631	hsa-miR-3916	CLIP-seq
MIRT739149	hsa-miR-3919	CLIP-seq
MIRT2627725	hsa-miR-3940-5p	CLIP-seq
MIRT2627726	hsa-miR-3942-3p	CLIP-seq
MIRT739143	hsa-miR-3945	CLIP-seq
MIRT1370707	hsa-miR-3977	CLIP-seq
MIRT1370633	hsa-miR-4257	CLIP-seq
MIRT2627727	hsa-miR-4261	CLIP-seq
MIRT2627728	hsa-miR-4267	CLIP-seq
MIRT2627729	hsa-miR-4268	CLIP-seq
MIRT2627730	hsa-miR-4276	CLIP-seq
MIRT2691359	hsa-miR-4299	CLIP-seq
MIRT2440563	hsa-miR-4310	CLIP-seq
MIRT1370715	hsa-miR-433	CLIP-seq
MIRT1370634	hsa-miR-4330	CLIP-seq
MIRT2627734	hsa-miR-4419a	CLIP-seq
MIRT2627736	hsa-miR-4433	CLIP-seq
MIRT2627737	hsa-miR-4448	CLIP-seq
MIRT2691360	hsa-miR-4456	CLIP-seq
MIRT1370718	hsa-miR-4457	CLIP-seq
MIRT1370719	hsa-miR-4459	CLIP-seq
MIRT2627738	hsa-miR-4469	CLIP-seq
MIRT2627739	hsa-miR-4506	CLIP-seq
MIRT2627740	hsa-miR-4507	CLIP-seq
MIRT2627741	hsa-miR-4510	CLIP-seq
MIRT1370724	hsa-miR-4512	CLIP-seq
MIRT1370726	hsa-miR-4527	CLIP-seq
MIRT2627744	hsa-miR-4652-3p	CLIP-seq
MIRT2627745	hsa-miR-4659a-3p	CLIP-seq
MIRT2627746	hsa-miR-4659a-5p	CLIP-seq
MIRT2627747	hsa-miR-4659b-3p	CLIP-seq
MIRT2627748	hsa-miR-4659b-5p	CLIP-seq
MIRT1370732	hsa-miR-4666-5p	CLIP-seq
MIRT1370733	hsa-miR-4667-3p	CLIP-seq
MIRT2627749	hsa-miR-4669	CLIP-seq
MIRT2627750	hsa-miR-4678	CLIP-seq
MIRT1370737	hsa-miR-4688	CLIP-seq
MIRT2627752	hsa-miR-4695-5p	CLIP-seq
MIRT2627753	hsa-miR-4698	CLIP-seq
MIRT2627755	hsa-miR-4722-3p	CLIP-seq
MIRT2627756	hsa-miR-4731-3p	CLIP-seq
MIRT2627757	hsa-miR-4733-5p	CLIP-seq
MIRT1370744	hsa-miR-4734	CLIP-seq
MIRT2627758	hsa-miR-4735-3p	CLIP-seq
MIRT1370746	hsa-miR-4753-3p	CLIP-seq
MIRT1370747	hsa-miR-4761-5p	CLIP-seq
MIRT2627760	hsa-miR-4763-5p	CLIP-seq
MIRT1370750	hsa-miR-4767	CLIP-seq
MIRT2627761	hsa-miR-4768-3p	CLIP-seq
MIRT2627763	hsa-miR-4774-3p	CLIP-seq
MIRT2627764	hsa-miR-4778-3p	CLIP-seq
MIRT2440564	hsa-miR-4786-5p	CLIP-seq
MIRT2627765	hsa-miR-4801	CLIP-seq
MIRT2627766	hsa-miR-494	CLIP-seq
MIRT1370758	hsa-miR-513b	CLIP-seq
MIRT1370759	hsa-miR-513c	CLIP-seq
MIRT1370760	hsa-miR-514b-5p	CLIP-seq
MIRT2627771	hsa-miR-517b	CLIP-seq
MIRT2627773	hsa-miR-548o	CLIP-seq
MIRT2691361	hsa-miR-548q	CLIP-seq
MIRT2627775	hsa-miR-549	CLIP-seq
MIRT2627776	hsa-miR-552	CLIP-seq
MIRT2627777	hsa-miR-570	CLIP-seq
MIRT1370767	hsa-miR-580	CLIP-seq
MIRT1370768	hsa-miR-589	CLIP-seq
MIRT2627779	hsa-miR-596	CLIP-seq
MIRT2627780	hsa-miR-603	CLIP-seq
MIRT2109998	hsa-miR-619	CLIP-seq
MIRT2627782	hsa-miR-629	CLIP-seq
MIRT2627784	hsa-miR-645	CLIP-seq
MIRT2627785	hsa-miR-646	CLIP-seq
MIRT2440565	hsa-miR-662	CLIP-seq
MIRT2627786	hsa-miR-676	CLIP-seq
MIRT2627788	hsa-miR-767-5p	CLIP-seq
MIRT2440566	hsa-miR-769-5p	CLIP-seq
MIRT2627789	hsa-miR-875-3p	CLIP-seq
MIRT2691362	hsa-miR-876-3p	CLIP-seq
MIRT1370777	hsa-miR-939	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ARID1A	Unknown	21900401
TP53	Unknown	21900401
TRIB3	Unknown	21896644
WT1	Activation	20842112
WWTR1	Activation	22470139

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	8774881, 28467929
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	14555988
GO:0000165	Process	MAPK cascade	IEA
GO:0000785	Component	Chromatin	IDA	21828274
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	9732876
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	18832382, 21947082, 24378993, 31582430
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	21947082
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IC	21828274
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IDA	21947082
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IMP	32141990
GO:0001217	Function	DNA-binding transcription repressor activity	IDA	28467929
GO:0001222	Function	Transcription corepressor binding	IPI	14612439
GO:0001223	Function	Transcription coactivator binding	IPI	16777850
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	24378993, 25605017
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	24378993, 26311719
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	24964035
GO:0001501	Process	Skeletal system development	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001657	Process	Ureteric bud development	IEA
GO:0001666	Process	Response to hypoxia	IMP	12411310
GO:0001701	Process	In utero embryonic development	IEA
GO:0001707	Process	Mesoderm formation	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001836	Process	Release of cytochrome c from mitochondria	IEA
GO:0001889	Process	Liver development	IEA
GO:0001947	Process	Heart looping	IEA
GO:0002076	Process	Osteoblast development	IEA
GO:0002520	Process	Immune system development	IEA
GO:0003677	Function	DNA binding	IDA	28467929
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9111321
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9732876, 10823886, 21947082
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IMP	32141990
GO:0005160	Function	Transforming growth factor beta receptor binding	IPI	9311995
GO:0005515	Function	Protein binding	IPI	9865696, 9892009, 10681527, 11274402, 11278756, 11387212, 12154125, 14525983, 15051726, 15084259, 15231748, 15350224, 15588252, 15647271, 15897867, 16007207, 16200078, 17099224, 17292623, 17469184, 17785517, 18548003, 18568018, 18729074, 18832382, 19032343, 19049980, 19122240, 19135
GO:0005518	Function	Collagen binding	IEA
GO:0005634	Component	Nucleus	IDA	9311995, 12446380, 16007207, 21145499, 21947082, 25893292
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IGI	23723426
GO:0005637	Component	Nuclear inner membrane	IDA	15647271
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	21947082
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005667	Component	Transcription regulator complex	IPI	25060702
GO:0005737	Component	Cytoplasm	IDA	9311995, 12446380, 21145499, 21947082
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IGI	23723426
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	25060702
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	35359452
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	21947082
GO:0006915	Process	Apoptotic process	IEA
GO:0006955	Process	Immune response	IMP	16886151
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	9311995, 9732876, 10823886, 18548003, 21947082, 28467929
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IMP	8774881
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	NAS	35359452
GO:0007254	Process	JNK cascade	IEA
GO:0007369	Process	Gastrulation	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008270	Function	Zinc ion binding	IDA	12686552
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	14555988
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0009880	Process	Embryonic pattern specification	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	21307346
GO:0010629	Process	Negative regulation of gene expression	IMP	24378993
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IDA	21307346
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IMP	18505915
GO:0016202	Process	Regulation of striated muscle tissue development	IEA
GO:0016922	Function	Nuclear receptor binding	IPI	31023188
GO:0017015	Process	Regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0017151	Function	DEAD/H-box RNA helicase binding	IPI	18548003
GO:0019899	Function	Enzyme binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	12874272
GO:0019902	Function	Phosphatase binding	IPI	16751101
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030279	Process	Negative regulation of ossification	IDA	22155034
GO:0030308	Process	Negative regulation of cell growth	IDA	8774881
GO:0030325	Process	Adrenal gland development	IEA
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0030878	Process	Thyroid gland development	IEA
GO:0031053	Process	Primary miRNA processing	TAS	19018011
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	11278251, 15781469, 19122240
GO:0031962	Function	Nuclear mineralocorticoid receptor binding	IPI	12902338
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IEA
GO:0032502	Process	Developmental process	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032810	Function	Sterol response element binding	IGI	25605017
GO:0032909	Process	Regulation of transforming growth factor beta2 production	IMP	12411310
GO:0032916	Process	Positive regulation of transforming growth factor beta3 production	IEA
GO:0032924	Process	Activin receptor signaling pathway	IBA
GO:0032924	Process	Activin receptor signaling pathway	IMP	15150278
GO:0032924	Process	Activin receptor signaling pathway	NAS	15150278
GO:0033689	Process	Negative regulation of osteoblast proliferation	IEA
GO:0035259	Function	Nuclear glucocorticoid receptor binding	IPI	12902338
GO:0036064	Component	Ciliary basal body	IDA
GO:0038092	Process	Nodal signaling pathway	IMP	15150278
GO:0042060	Process	Wound healing	TAS	19018011
GO:0042110	Process	T cell activation	IEA
GO:0042177	Process	Negative regulation of protein catabolic process	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	NAS	15799969
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	18729074, 22045334
GO:0042803	Function	Protein homodimerization activity	IPI	8774881
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043130	Function	Ubiquitin binding	IDA	18794808
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	29203640
GO:0043235	Component	Receptor complex	IMP	8774881
GO:0043425	Function	BHLH transcription factor binding	IPI	21828274
GO:0043565	Function	Sequence-specific DNA binding	IDA	10823886
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045216	Process	Cell-cell junction organization	IMP	18505915
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IDA	27038547
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IEA
GO:0045596	Process	Negative regulation of cell differentiation	ISS
GO:0045599	Process	Negative regulation of fat cell differentiation	IDA	19816956
GO:0045668	Process	Negative regulation of osteoblast differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	9111321, 9311995, 9732876
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12676957, 17884155
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	8774881, 18832382
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	14555988
GO:0046872	Function	Metal ion binding	IEA
GO:0048340	Process	Paraxial mesoderm morphogenesis	IEA
GO:0048589	Process	Developmental growth	IEA
GO:0048617	Process	Embryonic foregut morphogenesis	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0050678	Process	Regulation of epithelial cell proliferation	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050776	Process	Regulation of immune response	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0050927	Process	Positive regulation of positive chemotaxis	IEA
GO:0051481	Process	Negative regulation of cytosolic calcium ion concentration	IDA	27038547
GO:0051496	Process	Positive regulation of stress fiber assembly	IEA
GO:0051881	Process	Regulation of mitochondrial membrane potential	IEA
GO:0051894	Process	Positive regulation of focal adhesion assembly	IEA
GO:0060039	Process	Pericardium development	IEA
GO:0060290	Process	Transdifferentiation	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IMP	15107418
GO:0060395	Process	SMAD protein signal transduction	IBA
GO:0060395	Process	SMAD protein signal transduction	IDA	9111321, 9311995, 9732876, 10823886
GO:0060395	Process	SMAD protein signal transduction	IEA
GO:0060395	Process	SMAD protein signal transduction	IEA
GO:0060395	Process	SMAD protein signal transduction	IMP	30729664
GO:0061045	Process	Negative regulation of wound healing	IEA
GO:0061450	Process	Trophoblast cell migration	IDA	34432647
GO:0061450	Process	Trophoblast cell migration	IDA	34432647
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	9732876, 17251190
GO:0061767	Process	Negative regulation of lung blood pressure	IEA
GO:0070306	Process	Lens fiber cell differentiation	IEA
GO:0070410	Function	Co-SMAD binding	IPI	8774881, 9111321, 9311995, 9732876
GO:0070411	Function	I-SMAD binding	IBA
GO:0070412	Function	R-SMAD binding	IPI	9311995, 20129061
GO:0071141	Component	SMAD protein complex	IDA	18832382, 21947082
GO:0071144	Component	Heteromeric SMAD protein complex	IBA
GO:0071144	Component	Heteromeric SMAD protein complex	IDA	21828274
GO:0071144	Component	Heteromeric SMAD protein complex	NAS	16322555
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0071559	Process	Response to transforming growth factor beta	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IDA	12902338
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:0097190	Process	Apoptotic signaling pathway	IMP	15107418
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IEA
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IMP	15334054
GO:0098586	Process	Cellular response to virus	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	21828274
GO:0141091	Process	Transforming growth factor beta receptor superfamily signaling pathway	IEA
GO:1901203	Process	Positive regulation of extracellular matrix assembly	IDA	21307346
GO:1901203	Process	Positive regulation of extracellular matrix assembly	IMP	30729664
GO:1902893	Process	Regulation of miRNA transcription	IC	25605017
GO:1902894	Process	Negative regulation of miRNA transcription	IMP	32141990
GO:1902895	Process	Positive regulation of miRNA transcription	IDA	24378993
GO:1902895	Process	Positive regulation of miRNA transcription	IMP	30729664
GO:1902895	Process	Positive regulation of miRNA transcription	IMP	24378993, 26311719
GO:1903243	Process	Negative regulation of cardiac muscle hypertrophy in response to stress	IEA
GO:1990776	Process	Response to angiotensin	IMP	30729664
GO:1990841	Function	Promoter-specific chromatin binding	IEA

Other IDs

• MIM: 603109
• HGNC: 6769
• e!Ensembl: ENSG00000166949

Protein

• UniProt ID: P84022
• Protein name: Mothers against decapentaplegic homolog 3 (MAD homolog 3) (Mad3) (Mothers against DPP homolog 3) (hMAD-3) (JV15-2) (SMAD family member 3) (SMAD 3) (Smad3) (hSMAD3)
• Protein function: Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of man
• PDB: 1MHD, 1MJS, 1MK2, 1OZJ, 1U7F, 2LAJ, 2LB2, 5OD6, 5ODG, 5XOC, 6YIB, 6ZMN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03165	MH1	31 → 131	MH1 domain	Domain
  PF03166	MH2	230 → 401	MH2 domain	Family

• Sequence:

  MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNV
  NTKCITIPRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEV
  CVNPYHYQRVETPVLPPVLVPRHTEIPAEFPPLDDYSHSIPENTNFPAGIEPQSNIPETP
  PPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYEL
  NQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVELTRRHIGRGVRLYYIG
  GEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGF
  EAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIR
  CSSVS

• Sequence length: 425

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
Aneurysm-osteoarthritis syndrome	Likely pathogenic; Pathogenic	rs2140188685, rs2140294805, rs2140314299, rs2140323765, rs587782977, rs2140319954, rs730880214, rs768713596, rs745672741, rs2505213278, rs886041046, rs2505282958, rs2140188838, rs2505284032, rs2505239545, rs2504999773, rs2505210242, rs1555414503, rs2140189193, rs387906850, rs587776880, rs387906851, rs587776881, rs387906852, rs387906853, rs387906854, rs587776882, rs387906856, rs757106110, rs1555405092, rs1567005489, rs1595956832, rs1595941653, rs1595941823, rs1595956416, rs1595956538, rs1595960347, rs1320208623, rs1595962708, rs1963050712, rs1962537574	RCV001799526 RCV001802457 RCV001814708 RCV005412340 RCV002470771 RCV002289402 RCV001198563 RCV005625435 RCV002492898 RCV003140575 RCV000258815 RCV003485904 RCV003485905 RCV004805028 RCV004013691 RCV004016898 RCV004015932 RCV004594823 RCV004594829 RCV000023241 RCV000023242 RCV000023243 RCV000023244 RCV000023245 RCV000023246 RCV000023247 RCV000023248 RCV000023250 RCV004802062 RCV005415437 RCV000767867 RCV004594235 RCV000993700 RCV000993702 RCV000993704 RCV000993699 RCV000993703 RCV000993705 RCV000989349 RCV001034617 RCV001195952 RCV001253003	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aortic aneurysm	Pathogenic	rs1555405092	RCV001526579	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ascending aortic dissection	Pathogenic	rs1595956832	RCV001027517	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic	rs886038770	RCV000247435	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Connective tissue disorder	Likely pathogenic; Pathogenic	rs730880214, rs745672741	RCV000660271 RCV000660268	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome	Likely pathogenic; Pathogenic	rs2140296876, rs387906850	RCV002278073 RCV002276569	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial aortopathy	Likely pathogenic; Pathogenic	rs2140301211, rs1566999458	RCV003995111 RCV001193562	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Pathogenic; Likely pathogenic	rs2140314210, rs2140314457, rs2140328050, rs2140295070, rs2140188685, rs2140294164, rs2140323368, rs2140323831, rs2140294762, rs1555413988, rs2140294805, rs2140328026, rs2140188825, rs2140293906, rs1250669634, rs1057518977, rs1963178887, rs2140323765, rs2140314073, rs2140294260, rs2140320169, rs2140328010, rs2140327860, rs587782977, rs2505311128, rs730880214, rs886038971, rs2505299719, rs2504999997, rs2505301084, rs1959910723, rs2505322529, rs794727798, rs2505299732, rs2505209009, rs2505299822, rs2505283146, rs863223750, rs863223762, rs863223756, rs768713596, rs745672741, rs863223759, rs1555412140, rs863223737, rs863223738, rs863223739, rs863223740, rs863223768, rs863223754, rs149443777, rs2505284183, rs886041046, rs2505222700, rs1420747523, rs2505284100, rs2505283996, rs2505300697, rs2505209286, rs2140319857, rs2505310094, rs2505282768, rs2505323236, rs2505239786, rs2505284032, rs2505283231, rs2505285001, rs1555414503, rs760286714, rs2505310629, rs2505309923, rs2140301211, rs387906850, rs387906851, rs587776881, rs387906853, rs387906854, rs1555412070, rs753486471, rs1060500770, rs1060500773, rs1064794789, rs1555414236, rs757106110, rs1006530719, rs1555412069, rs1555413579, rs1555405108, rs1555405092, rs730880215, rs1566999621, rs1567002059, rs1567002115, rs1567003613, rs1566999458, rs1566999423, rs1566999601, rs1566999610, rs1595942351, rs1595960447, rs1595965925, rs1595965945, rs1595956832, rs1320208623, rs1291288543, rs1963180892, rs1963331116, rs1693718752, rs1962602493, rs1962602688, rs1962532975	RCV001377744 RCV001383282 RCV001386389 RCV001882569 RCV002377898 RCV002458526 RCV002539617 RCV001799326 RCV001799327 RCV001799330 RCV001869473 RCV002017844 RCV001939438 RCV001934998 RCV001976398 RCV001887283 RCV001926477 RCV002002394 RCV001895830 RCV002002474 RCV001967165 RCV001951029 RCV002011930 RCV000230825 RCV002454785 RCV001798527 RCV002355303 RCV002449747 RCV002455548 RCV002430698 RCV002435607 RCV003117918 RCV001852232 RCV002716901 RCV002811781 RCV002863398 RCV002848071 RCV000772179 RCV001387277 RCV001242563 RCV000473676 RCV000702020 RCV001215670 RCV003061616 RCV000701533 RCV000707738 RCV000471572 RCV000222953 RCV002444797 RCV000465646 RCV003005893 RCV003051750 RCV003172514 RCV000796536 RCV003278171 RCV003486418 RCV003486421 RCV003528839 RCV003528899 RCV003529726 RCV003527952 RCV003527916 RCV003527846 RCV003527901 RCV003643159 RCV003643137 RCV003643719 RCV003643940 RCV003644141 RCV003642464 RCV003642769 RCV003642812 RCV005103189 RCV000699559 RCV005732051 RCV001385143 RCV003528136 RCV002313719 RCV000476180 RCV000468525 RCV000462102 RCV000464246 RCV001057003 RCV002431410 RCV000543020 RCV001218505 RCV000534462 RCV000554789 RCV000560562 RCV002315227 RCV001051043 RCV002315223 RCV000695305 RCV000687314 RCV000695166 RCV000707067 RCV001381115 RCV000766259 RCV000766260 RCV000766261 RCV000806108 RCV000808869 RCV000795876 RCV000820341 RCV000808764 RCV001869307 RCV002536205 RCV001063328 RCV001170800 RCV001170801 RCV001179189 RCV001191037 RCV001231422 RCV001224288 RCV001211801 RCV001221839	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Isolated thoracic aortic aneurysm	Likely pathogenic	rs2140188891	RCV001374825	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Loeys-Dietz syndrome	Likely pathogenic; Pathogenic	rs2140295070, rs587782977, rs730880214, rs2505284032, rs1595960447, rs770098673	RCV001526933 RCV000143952 RCV000157501 RCV004017997 RCV004017742 RCV000826214	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SMAD3-related disorder	Likely pathogenic; Pathogenic	rs863223740, rs2505222600	RCV004734851 RCV004528024	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEURYSM OSTEOARTHRITIS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic aneurysm, familial thoracic 6	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AORTIC DISSECTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arterial dissection	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC RHINOSINUSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital aneurysm of ascending aorta	Likely benign; risk factor	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL CONTRACTURAL ARACHNODACTYLY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary artery disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous polyarteritis nodosa	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISSECTION OF AORTA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISSECTION, ASCENDING AORTA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic spontaneous coronary artery dissection	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIOMYOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, ALCOHOLIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOEYS-DIETZ SYNDROME 3	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	confers sensitivity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYNCH SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARFAN SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS OF HIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, SPINE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUPTURED ABDOMINAL AORTIC ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUPTURED AORTIC ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUPTURED THORACIC AORTIC ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC KERATOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thoracic aortic aneurysm	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THORACOABDOMINAL AORTIC ANEURYSM, RUPTURED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER RESPIRATORY TRACT DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URETERAL OBSTRUCTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dilatation	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR REMODELING	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VERTEBRAL COLUMN DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	BEFREE	22167769, 22803640, 23554019, 26221609		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	31694906		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24928833, 25198664, 27856637, 28005074, 28115165, 29935234, 30031128, 31131047		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	30637920		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	16951153		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	18235219, 22966790		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	20514018		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	GWASCAT_DG	30013184		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37253165	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30307970		★☆☆☆☆ Found in Text Mining only
Anemia Dyserythropoietic Congenital	Congenital dyserythropoietic anemia	Pubtator	32759740	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	22633655, 24657066, 26221609, 34244757, 39382597	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm, Dissecting	Aortic Aneurysm	CTD_human_DG	21217753		★☆☆☆☆ Found in Text Mining only
Aneurysm, Dissecting	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aneurysm-osteoarthritis syndrome	Aneurysm-Osteoarthritis Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Angina Stable	Angina pectoris	Pubtator	15261933	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26301688, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	21624123, 24709776, 26578390, 27671303		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	CTD_human_DG	21217753		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aortic Aneurysm	Aortic Aneurysm	BEFREE	26333736, 29515022		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	21778426, 28665537	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	24804794, 26017485, 26854089, 32404006, 32597575	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	28665537		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Thoracic	Aortic Aneurysm	BEFREE	23554019		★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic disease	Pubtator	24804794	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	21778426, 24804794, 28855619, 30739908, 31489719, 31915033, 32022471, 35078481	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Rupture	Aortic Rupture	BEFREE	29073282		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	29227539	Associate	★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	BEFREE	22633655		★☆☆☆☆ Found in Text Mining only
Arterial Tortuosity Syndrome	Arterial tortuosity syndrome	Pubtator	22633655, 32100971	Associate	★☆☆☆☆ Found in Text Mining only
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16556868, 24204921, 31521890		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	Pubtator	16556868	Associate	★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	36198763	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24204921, 24804794, 25376468, 32998457, 33362761	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	20860503, 24388013, 27182965, 29273806, 29785011, 30552067, 30929738, 31619474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASDB_DG	20860503, 21907864, 22561531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	20860503, 26209277, 28011059, 30158495, 30472056, 30903795, 32065213, 33245228	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	26209277, 28011059, 28062322, 28079285, 30903795, 31009112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	40650018	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	11555647, 23468652, 24204921, 29512862, 29685964, 31900142, 33786633	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	24204921, 31521890		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	24144036, 28881845, 30953354, 31666455		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	24144036	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	24652666		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24804794, 28598443		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	24804794	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	28877884		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28739740		★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	26784546		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	24094956		★☆☆☆☆ Found in Text Mining only
Bladder neck obstruction	Bladder neck obstruction	BEFREE	24340017		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28837140		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	28263294		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	17900349, 20362080, 20863401, 26160166	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	31788114		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	18235219		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	21778426, 37598220	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19193721, 19597490, 20010874, 20736297, 21114847, 21150326, 21835029, 22878587, 22927430, 23516540, 23741479, 24330518, 24932569, 25006666, 25744371, 27696331, 27906182, 28678584, 28739740, 29526821, 30275854, 30318519, 30544196		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	11555647, 12628005, 15520018, 19943940, 20736297, 21114847, 24488910, 24528085, 25006666, 25205100, 25658913, 25744371, 26160166, 26686634, 26805406, 27696331, 27829223, 29215776, 29526821, 30318519, 33043682, 33296812, 35085106, 35413833, 36928924, 37682272, 37682817	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39337574	Stimulate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	30001393	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	25578496, 29207670		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20037158, 21625455, 22904681, 23991075, 24696849, 24714748, 25205100, 30137431, 35780128, 36072623	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28877884, 9892110		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	29309308	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23991075, 27236156, 28192402, 28245423, 28639733, 33036415, 33684566, 34257565, 34281492, 35123494, 35941537	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31548493	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28837140		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22232600, 22778267, 23467611, 28119085, 28848138, 29565463, 30017880, 31694906		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26091707	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	21624123, 24709776, 32291413, 33782384, 35406724, 36207615	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27166254, 28626070, 36313180	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28102840	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37806311	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30087253		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	39294340	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	21127203, 24804794, 37840136	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	36878974	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	35185369	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28805231		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31915033	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	24657066	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	24852296	Associate	★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal tunnel syndrome	Pubtator	30927912	Associate	★☆☆☆☆ Found in Text Mining only
Cat eye syndrome	Cat Eye Syndrome	BEFREE	29089751		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	BEFREE	29415065		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Cerebral Infarction	BEFREE	30535466		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	24204921		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	27206216, 30341904, 31626590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	27206216, 28086903, 30341904, 31626590		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	28011059		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	30929738, 31036433		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	18235219, 22966790		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	29569474, 37669935	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	25922834	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	29880900		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	11549251, 12074587, 12504095		★☆☆☆☆ Found in Text Mining only
Choroid Plexus Carcinoma	Choroid Plexus Carcinoma	BEFREE	22554650		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	28100897		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	24356887, 29102563, 29518614, 29781524, 31002427, 31180530, 31452866		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	15318814, 20463300, 20513241, 29456676		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	26795696, 32100971	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	23155305, 24244446		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	21530736, 26461477	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21068203, 24244446, 25541970, 28445620, 28454287, 31739210		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	32420374, 37597669	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10446110, 16951153, 19531654, 22411066, 22852817, 23139211, 24244446, 25532000, 26461477, 27776350, 28061442, 28601657, 28877884, 29499953, 31434255, 9464505		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	30510241		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21068203, 21071512, 21747928, 22539990, 24427302, 24696849, 25532000, 25541970, 26461477, 27776350, 28061442, 28414818, 30728352, 30931081, 31027226, 31186036, 31434255, 32141497, 32954649, 33036415, 33462242, 36812239	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	30510241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	30510241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Variable Immunodeficiency	Common Variable Immunodeficiency	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital aneurysm of ascending aorta	Congenital Aneurysm Of Ascending Aorta	BEFREE	21778426, 27986426, 31587008		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital aneurysm of ascending aorta	Congenital Aneurysm Of Ascending Aorta	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	24094956		★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	26110764		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23640436, 30404073, 30590389, 30713572		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	25073432, 30675029	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective Tissue Diseases	Connective Tissue Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30171816, 31729097		★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal Diseases	LHGDN	18776948		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	BEFREE	21127203		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	21127203	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	26966274, 30307970		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	17634449, 24533640, 25528061, 27386823, 30146127, 30307970, 32513244, 35768776	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	24508273, 26966274, 30307970		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	26343387, 28714975, 29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Dissection Spontaneous	Spontaneous coronary artery dissection	Pubtator	33125268, 34939946, 40194966	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	21804106, 31014396, 34795878	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	17634449		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	17634449, 21347282		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	21804106, 26110764, 26966274, 30307970		★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	19394554	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	24378993	Stimulate	★☆☆☆☆ Found in Text Mining only
Cough	Cough	Pubtator	19463161	Associate	★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	32100971	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	28337255		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	21102463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	GWASCAT_DG	21102463, 26192919, 26301688, 26974007, 28067908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	CTD_human_DG	21102463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	24461721, 29415065, 31275422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	24461721, 29967250	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	31968593	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn`s disease of large bowel	Crohn`s Disease Of Large Bowel	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Crohn`s disease of the ileum	Crohn`s Disease Of The Ileum	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	11726399, 15044214		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	23632450, 25134464	Associate	★☆☆☆☆ Found in Text Mining only
Cystocele	Cystocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deficiency of butyryl-CoA dehydrogenase	Deficiency Of Butyryl-CoA Dehydrogenase	BEFREE	27986426, 31085000		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	12939660, 17604656, 19478656, 20506137, 21217753, 22633655, 22975338, 23292212, 23554019, 24257415, 24583347, 24804794, 26068512, 26221609, 26261637, 26350536, 26395178, 27986426, 28185953, 28356485, 28599103, 28662992, 28934396, 28939526, 29315792, 29414803, 29805262, 30208919, 30544699, 31496660, 31571401		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	12939660		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	21217753, 22772368		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	23436698, 38066678	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	LHGDN	12615364		★☆☆☆☆ Found in Text Mining only
Descending aortic dissection	Descending aortic dissection	HPO_DG			★☆☆☆☆ Found in Text Mining only
Desmoid disease hereditary	Desmoid tumor	Pubtator	23035734	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28721450, 29520103, 29844093		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	33890634	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28721450, 29520103, 29844093, 31071302		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19252133, 32747424	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24508273		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	18508967, 32705273, 33043774, 35880624, 38537808	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	22211842, 30002389, 30307163, 31734275		★☆☆☆☆ Found in Text Mining only
Digestive System Neoplasms	Digestive system neoplasm	Pubtator	33036415	Associate	★☆☆☆☆ Found in Text Mining only
Dissecting aortic aneurysm	Dissecting Aortic Aneurysm	BEFREE	21217753, 22803640		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	CTD_human_DG	21217753		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dissection of aorta	Aortic dissection	BEFREE	22803640, 22975338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dissection of aorta	Aortic dissection	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	24047375	Associate	★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	30927912	Associate	★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	BEFREE	23274062		★☆☆☆☆ Found in Text Mining only
Dysgnathia complex	Dysgnathia complex	Pubtator	32100971	Associate	★☆☆☆☆ Found in Text Mining only
Dyspnea, Paroxysmal	Dyspnea, Paroxysmal	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	28703134		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21771027, 26384307, 30276219, 30695033	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	25228630, 27920344, 30276219		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	25228630	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	30276219, 32348176	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	36768775	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Enteritis	Enteritis	BEFREE	30364052		★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	28832026	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Dystrophica	Dystrophic epidermolysis bullosa	Pubtator	30684555	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	30847724		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	28877884		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	30280774	Associate	★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	25644172	Associate	★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINVAR_DG	10092624, 11779503, 15235019, 20101697, 21217753, 21778426, 24804794, 25644172, 25944730, 26133393, 26854089, 30675029		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINGEN_DG	21217753, 21778426, 23272854, 23585475, 23782924		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Syndrome	Fanconi syndrome	Pubtator	34110636	Associate	★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	12629129, 14604812, 22228119		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	CTD_human_DG	22228119		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	16420505, 18771671, 25351340, 27633729, 28623179, 28860765, 29026072, 29253500, 29330836, 29530598, 29849890, 29887949, 30367152, 31467486, 31671330, 31677501		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	21605584		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	28611292		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	28611292	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	23690270		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31196627		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23892108, 29158223, 30850588, 30899443, 31250154, 31297044		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24759784, 25165192, 25315188, 25891822, 25991676, 29158223, 37357610	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25315188, 29158223, 30850588, 30899443, 31250154, 31297044		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24496888, 30535026		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25165192, 30320350, 35251569, 36181980, 36255058	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	11114293	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	17125594, 28815607	Stimulate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	31141397		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	19693466	Stimulate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	27503806, 28815607, 31141397		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	14531804	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	19129849		★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	24416423, 27683263		★☆☆☆☆ Found in Text Mining only
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	BEFREE	30684555		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	24804794	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	26110764, 27218255	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23640436, 30404073, 30590389, 30713572		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	23640436, 30272299	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	37840136	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	26110764	Associate	★☆☆☆☆ Found in Text Mining only
Hematoma	Hematoma	Pubtator	24657066	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	28678584	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29581148		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29462799, 31467597		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	19265200		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	33647858	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	BEFREE	29073282		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28791353, 29221952, 30304543		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
hypertensive nephropathy	Hypertensive Nephropathy	BEFREE	28808068, 30304543		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	33713570, 35406794, 36185336	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	19265200		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19951945	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21209004	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27909731, 31925944	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23418342, 27038547, 29095649, 29899023		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	22241478, 25476248, 30709904, 37416778	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30144053, 30152895		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	38117249	Stimulate	★☆☆☆☆ Found in Text Mining only
IIeocolitis	Ileocolitis	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	21530736, 23287011, 29547621		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	21530736, 29547621	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233, 26192919, 28067908		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	34561227	Stimulate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	38088865	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	22275377		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	26639428, 28662992		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	24551286	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	29415065		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	21778426, 31096651	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	36198763	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29704604		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	25247416	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	17125594	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	21927575, 28220029, 30462533, 31447676		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	24475278	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	27470679, 28566468, 31452866		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	31322212		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	20573232		★☆☆☆☆ Found in Text Mining only
Laryngitis	Laryngitis	Pubtator	32100971	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	19700613	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	28454099, 33073700	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15295048, 30177817		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	23913824		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15566516, 17596875, 23474366, 25096061, 25196641, 25253939, 26666823, 28245423, 28639733, 28703134, 29156696, 29268242, 29524413, 29690860, 29799303, 29991801, 30412748, 30697069, 31396342, 31548493, 31558704		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	21605584		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver cirrhosis	Pubtator	27273381	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	CTD_human_DG	23274713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure	Liver failure	Pubtator	29690860	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	16007207, 27456065, 28734833		★☆☆☆☆ Found in Text Mining only
Loeys-Dietz Aortic Aneurysm Syndrome	Loeys-Dietz Syndrome	CTD_human_DG	22772368		★☆☆☆☆ Found in Text Mining only
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	BEFREE	22772368, 23554019, 26333736, 26409702, 29350460, 29392890, 31085000, 31326520		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	CTD_human_DG	22772368		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	GENOMICS_ENGLAND_DG	23161884		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LOEYS-DIETZ SYNDROME 3	Loeys-Dietz Syndrome	GENOMICS_ENGLAND_DG	11285272, 21217753, 22167769, 23161884, 29392890		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOEYS-DIETZ SYNDROME 3	Loeys-Dietz Syndrome	CLINGEN_DG	11285272, 17589920, 21217753, 21778426, 22167769, 23782924		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOEYS-DIETZ SYNDROME 3	Loeys-Dietz Syndrome	UNIPROT_DG	21217753, 21778426		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOEYS-DIETZ SYNDROME 3	Loeys-Dietz Syndrome	BEFREE	21778426, 22167769, 22803640, 23554019, 24583347, 26221609		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOEYS-DIETZ SYNDROME 3	Loeys-Dietz Syndrome	ORPHANET_DG	22167769		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOEYS-DIETZ SYNDROME 3	Loeys-Dietz Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Loeys-Dietz Syndrome, Type 1a	Loeys-Dietz Syndrome	CTD_human_DG	22772368		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	22659883, 25476248, 32457348, 33589523	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	22232600, 22904681		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22693540, 22904681, 35998480, 36508813, 36626550, 37121971	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30594196	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19020994	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29684755		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24709776	Stimulate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	31700227	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	30535026		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19193721, 19597490, 19726885, 20010874, 20736297, 21114847, 21150326, 21835029, 22878587, 22927430, 23516540, 23741479, 24330518, 24932569, 25006666, 25744371, 27696331, 27906182, 28678584, 28739740, 29526821, 30171053, 30275854, 30318519, 30544196		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	28611292		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29991801, 31068668		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22232600, 22778267, 28119085, 28848138, 29565463, 31694906		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	25578496, 29207670		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10536178, 30087253		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23305226		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11248024, 19255064, 25056536, 26919443, 27384993, 29039572		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	18618014		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	29300379		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28837140		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12618756, 15231662, 16314499, 16474430, 16828225, 17907571, 17934056, 19257827, 20070253, 22539990, 23741479, 23774196, 23866946, 23892108, 25205100, 26784546, 27473228, 27683557, 27746021, 28739740, 29097203, 29915022, 30017880, 30275854		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	27206216, 30341904, 31626590		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21068203, 24244446, 25541970, 28445620, 28454287, 31739210		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	25542862, 28702892		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	12154046		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	25644172, 31096651	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfan Syndrome	Marfan Syndrome	BEFREE	26333736, 29350460		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma	Medulloblastoma	BEFREE	18235219, 22966790		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19845874		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21477078, 33154524, 33724679	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	25557874		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	25557874	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	25557874	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29051557		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	22803640		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	24244446		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	21127203, 22011813, 24652666, 26833052		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	21127203, 24652666	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	BEFREE	12161532		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	12112656		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	31788114		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	24703880		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	32359374	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASCAT_DG	26343387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	28065931, 29229611, 29510381, 30317569, 30473557, 31666455		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	38290462	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	31071302		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	26265084		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	28779150	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	25578496, 28356956, 29207670		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	25578496, 29393436, 33122398	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	25578496	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12161532, 14583455, 14647420, 15231662, 15295048, 15611645, 15855236, 16290023, 16951153, 17637743, 17725494, 18024258, 18095113, 19841536, 19845874, 20037158, 20858897, 21063788, 21071512, 21150326, 21468687, 21900401, 22232600, 22411066, 23179147, 23892108, 24890385, 24928833, 25006666, 25205100, 25253939, 25531329, 25542862, 25810340, 26919443, 26934318, 27456065, 27683557, 28262747, 28356956, 28471448, 28535533, 28574838, 28678584, 28702892, 28901475, 29309308, 29524699, 29799303, 29880900, 29915022, 29957732, 30017880, 30714677, 31434255, 31646446, 31694906, 31819495, 9892110		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22904681, 23645749, 25595426, 28115165, 28375158, 30594196, 31416579		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24040759, 28211912, 28721450		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24040759, 28211912, 38088865	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	32108968	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20650323, 22633655, 22820497, 22975338, 24257415, 24583347, 24657066, 24804794, 24852296, 24873879, 26221609, 26261637, 26395178, 28356485, 28934396, 29095952, 31096651, 31571401, 32319543, 37652257	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis Hip	Osteoarthritis	Pubtator	22820497, 29310478	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	26068512, 29315792	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	20506137, 22820497, 29310478, 30208919		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	CTD_human_DG	30374069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	GWASCAT_DG	30374069, 30664745		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of the small joints of the hand	Osteoarthritis Of The Hand	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	20506137, 29315792, 31183679		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis, Knee	Knee osteoarthritis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	21217753, 22772368		★☆☆☆☆ Found in Text Mining only
Osteochondritis Dissecans	Osteochondritis Dissecans	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	26679893		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30059597		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36443839	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29949655		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	17177144		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	18505915	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30087253		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18505915, 24416423, 35053353, 35342355, 36072623	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23305226, 27473228, 9892110		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	21624123, 24709776		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17114344, 25409617, 27473228, 33782384, 34155232, 35854234, 36207615, 36401386, 38058074	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	27473228	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	29505748		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29300379		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	12161532		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	12161532		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	21995845		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	29737911	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	24804794		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	24804794	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	24804794		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	22139024, 28873458, 31455237		★☆☆☆☆ Found in Text Mining only
Peyronie Disease	Peyronie Disease	BEFREE	23770939, 24841412, 29706035		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	24636138	Associate	★☆☆☆☆ Found in Text Mining only
PNEUMOTHORAX, PRIMARY SPONTANEOUS	Pneumothorax	BEFREE	29707331		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	19259356	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	24911914, 29750298, 30536903		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	27132594	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	35427808, 39511342	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	15295048		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	15295048		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	15566516		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	18095113, 30055965, 30946881		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11248024, 19255064, 25056536, 26919443, 27384993, 29039572		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	11248024, 12226080, 17579118, 19257827, 22843506, 24627133, 25056536, 27384993, 29164579, 29257105, 30209539, 32364525, 36536346, 36727462	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12226080, 17908958		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	25132073		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	26301688, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29095649		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	30274147	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	19087346, 20463300, 27060571, 27126693, 33510050, 39456887	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	GENOMICS_ENGLAND_DG	23161884		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	16210645, 18245174, 22451267, 22491319, 23161884, 24095924, 27494713, 28562330, 29913150, 30021376, 30481795, 31611754, 31646446		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	29207055, 33495816, 33601175, 33760151	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	21068203		★☆☆☆☆ Found in Text Mining only
Regional enteritis	Crohn Disease	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Regular astigmatism - corneal	Corneal astigmatism	GWASCAT_DG	30306274		★☆☆☆☆ Found in Text Mining only
Renal Artery Stenosis	Renal Artery Stenosis	BEFREE	29073282		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30171816, 31729097		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	21927575, 22190171, 22211842, 23022526, 23056222, 24445937, 24613410, 27853248, 27927780, 28220029, 28393852, 29102563, 29222368, 29230844, 29518614, 29679507, 29759484, 29781524, 29875262, 30177595, 30212825, 30277665, 30305452, 30431100, 30551434, 30657569, 31118021, 31211499, 31447676, 31682174, 31734275		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	31471534		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	25408144	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	16140969		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24204921, 25376468, 30808624		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	25753554		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28737528		★☆☆☆☆ Found in Text Mining only
Schizophrenia Spectrum and Other Psychotic Disorders	Schizophrenia	Pubtator	28737528	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	11904440, 12847691, 15153536, 15855645, 16288083, 16319104, 16564026, 17317656, 22740248, 30470612		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	24578173	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	26333736		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31494280		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	24804794	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	31108104		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28465478		★☆☆☆☆ Found in Text Mining only
Spondylolisthesis	Spondylolisthesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18618014, 28102840, 29206939, 31694906		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	10995883, 26670461		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33593111, 34060226, 37691034	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	31694906		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	19841536, 26755347		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	26764364		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23179147		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18174246		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	22411066		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22539990, 24260584, 27383203, 28165563, 30896889, 33036415, 33538080, 34138687, 35458126, 37328880	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	24204921, 31096651	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	11904440, 12847691, 15153536, 15855645, 16288083, 16319104, 16564026, 17317656, 22740248, 23159943, 24959869, 24998426, 30470612, 31439591, 31840939		★☆☆☆☆ Found in Text Mining only
Thoracic Diseases	Thoracic disease	Pubtator	36007983	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophlebitis	Thrombophlebitis	Pubtator	21478096	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	23591524, 23918305, 28039715, 29300379	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	GWASCAT_DG	28195142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29300379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	32138807	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	29300379		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	28195142, 29300379, 38165228	Associate	★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28054666, 28678584, 29137393, 30251686		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28678584, 34326372, 36123344	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	21530736, 26461477, 30653987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26192919, 26301688, 26974007, 28067908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	30767676		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26873485, 28837140, 31198976, 34196584, 38129585	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neurogenic	Neurogenic bladder	Pubtator	35662268	Stimulate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	25408144		★☆☆☆☆ Found in Text Mining only
Uterine Cancer	Endometrial Cancer	CTD_human_DG	22228119		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27206216, 31626590, 33098235, 37667176	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	32348176	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	12629129, 14604812, 22228119		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	CTD_human_DG	22228119		★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Endometrial Neoplasms	CTD_human_DG	22228119		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Varicose Veins	Varicose veins	Pubtator	21478096	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	21778426, 25555948, 30586711		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	21778426, 34939946, 39382597	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Remodeling	Vascular remodeling	Pubtator	33647858	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	24737245, 29238989		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation, Paroxysmal Familial, 1	Ventricular Fibrillation	BEFREE	24737245, 29238989		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	27126693, 38290462	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	BEFREE	26110764		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	28703134		★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	31700227	Associate	★☆☆☆☆ Found in Text Mining only
Warburg Sjo Fledelius syndrome	Warburg micro syndrome	Pubtator	32100971	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	31035970	Associate	★☆☆☆☆ Found in Text Mining only