Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	6772
Gene name	Signal transducer and activator of transcription 1
Gene symbol	STAT1
Synonyms (NCBI Gene)	CANDF7IMD31AIMD31BIMD31CISGF-3STAT91
Chromosome	2
Chromosome location	2q32.2
Summary	The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the ce

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SNP ID	Visualize variation	Clinical significance	Consequence
rs41473544	C>T	Likely-benign, pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs56228116	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs137852677	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137852678	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137852679	C>A,T	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs137852680	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs387906758	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906759	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906760	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906761	T>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906762	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906763	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906764	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906765	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906766	A>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906767	C>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906768	T>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs587776713	TC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587776714	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587776870	C>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587777628	G>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587777629	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587777630	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587777704	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587777705	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs755837357	TTCT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs778254943	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs796065052	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs863223398	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886043118	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1064794955	C>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1085307649	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1341038926	->C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553494436	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553495184	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553496850	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553497886	T>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1559011859	T>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1559019204	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1574636674	G>A	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1574640523	C>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1574648928	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1574653439	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1574657735	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1574657750	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1574657762	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1574672718	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT000626	hsa-miR-145-5p	qRT-PCRLuciferase reporter assayWestern blotMicroarray	20098684
MIRT000626	hsa-miR-145-5p	Luciferase reporter assay	20098684
MIRT021229	hsa-miR-146a-5p	Microarray	20110513
MIRT025278	hsa-miR-34a-5p	Proteomics	21566225
MIRT040456	hsa-miR-615-3p	CLASH	23622248
MIRT021229	hsa-miR-146a-5p	Luciferase reporter assayqRT-PCRWestern blot	23890093
MIRT021229	hsa-miR-146a-5p	Luciferase reporter assayqRT-PCRWestern blot	23890093
MIRT640324	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT640323	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT640322	hsa-miR-1183	HITS-CLIP	23824327
MIRT640321	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT640320	hsa-miR-5009-3p	HITS-CLIP	23824327
MIRT640319	hsa-miR-4693-5p	HITS-CLIP	23824327
MIRT640318	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT640317	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT640316	hsa-miR-653-5p	HITS-CLIP	23824327
MIRT731704	hsa-miR-140-5p	5.0	26780721
MIRT731704	hsa-miR-140-5p	5.0	26780721
MIRT021229	hsa-miR-146a-5p	qRT-PCRWestern blot	25889446
MIRT735637	hsa-miR-223-3p	Luciferase reporter assayqRT-PCRWestern blot	26025667
MIRT735637	hsa-miR-223-3p	Luciferase reporter assayqRT-PCRWestern blot	26025667
MIRT735637	hsa-miR-223-3p	Luciferase reporter assayqRT-PCRWestern blot	26025667
MIRT735637	hsa-miR-223-3p	Luciferase reporter assayqRT-PCRWestern blot	26025667
MIRT021229	hsa-miR-146a-5p	qRT-PCR	28077577
MIRT732496	hsa-miR-6825-5p	Microarray	32597160
MIRT732497	hsa-miR-4495	Microarray	32597160
MIRT732498	hsa-miR-5580-3p	Microarray	32597160
MIRT732806	hsa-miR-455-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blotting	33505218
MIRT732903	hsa-let-7i-3p	ImmunofluorescenceRNA-seqqRT-PCRWestern blotting	33239422
MIRT732905	hsa-miR-423-3p	ImmunofluorescenceRNA-seqqRT-PCRWestern blotting	33239422
MIRT734444	hsa-let-7b-5p	ELISALuciferase reporter assayqRT-PCR	33005103
MIRT735199	hsa-miR-103a-2-5p	Luciferase reporter assayWestern blottingMicroarrayImmunohistochemistry (IHC)ImmunofluorescenceqRT-PCRIn situ hybridizationFlow cytometry	32549769
MIRT735637	hsa-miR-223-3p	qRT-PCR	32048448
MIRT735638	hsa-miR-448	qRT-PCR	32048448
MIRT640324	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT640323	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT640322	hsa-miR-1183	HITS-CLIP	23824327
MIRT640321	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT640320	hsa-miR-5009-3p	HITS-CLIP	23824327
MIRT640319	hsa-miR-4693-5p	HITS-CLIP	23824327
MIRT640318	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT640317	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT640316	hsa-miR-653-5p	HITS-CLIP	23824327
MIRT755907	hsa-miR-1296-5p	Luciferase reporter assayWestern blottingqRT-PCRRNA pull down assay	37187897
MIRT756283	hsa-miR-338-3p	Luciferase reporter assayWestern blottingqRT-PCR	37479855
MIRT1395625	hsa-miR-1257	CLIP-seq
MIRT1395626	hsa-miR-1261	CLIP-seq
MIRT1395627	hsa-miR-1273g	CLIP-seq
MIRT1395628	hsa-miR-146a	CLIP-seq
MIRT1395629	hsa-miR-146b-5p	CLIP-seq
MIRT1395630	hsa-miR-155	CLIP-seq
MIRT1395631	hsa-miR-185	CLIP-seq
MIRT1395632	hsa-miR-3074-3p	CLIP-seq
MIRT1395633	hsa-miR-3121-3p	CLIP-seq
MIRT1395634	hsa-miR-3123	CLIP-seq
MIRT1395635	hsa-miR-3148	CLIP-seq
MIRT1395636	hsa-miR-3201	CLIP-seq
MIRT1395637	hsa-miR-323b-5p	CLIP-seq
MIRT1395638	hsa-miR-3607-3p	CLIP-seq
MIRT1395639	hsa-miR-3611	CLIP-seq
MIRT1395640	hsa-miR-3688-3p	CLIP-seq
MIRT1395641	hsa-miR-3689a-3p	CLIP-seq
MIRT1395642	hsa-miR-3689c	CLIP-seq
MIRT1395643	hsa-miR-4287	CLIP-seq
MIRT1395644	hsa-miR-4306	CLIP-seq
MIRT1395645	hsa-miR-4422	CLIP-seq
MIRT1395646	hsa-miR-4481	CLIP-seq
MIRT1395647	hsa-miR-4644	CLIP-seq
MIRT1395648	hsa-miR-4662a-5p	CLIP-seq
MIRT1395649	hsa-miR-4685-3p	CLIP-seq
MIRT1395650	hsa-miR-4700-3p	CLIP-seq
MIRT1395651	hsa-miR-4745-5p	CLIP-seq
MIRT1395652	hsa-miR-4758-5p	CLIP-seq
MIRT1395653	hsa-miR-4764-3p	CLIP-seq
MIRT1395654	hsa-miR-4768-3p	CLIP-seq
MIRT1395655	hsa-miR-4780	CLIP-seq
MIRT1395656	hsa-miR-4789-3p	CLIP-seq
MIRT1395657	hsa-miR-4791	CLIP-seq
MIRT1395658	hsa-miR-494	CLIP-seq
MIRT1395659	hsa-miR-548a-3p	CLIP-seq
MIRT1395660	hsa-miR-548c-3p	CLIP-seq
MIRT1395661	hsa-miR-548e	CLIP-seq
MIRT1395662	hsa-miR-548f	CLIP-seq
MIRT1395663	hsa-miR-570	CLIP-seq
MIRT1395664	hsa-miR-623	CLIP-seq
MIRT1395665	hsa-miR-630	CLIP-seq
MIRT1395666	hsa-miR-656	CLIP-seq
MIRT1395667	hsa-miR-935	CLIP-seq
MIRT1395668	hsa-miR-30a	CLIP-seq
MIRT1395669	hsa-miR-30b	CLIP-seq
MIRT1395670	hsa-miR-30c	CLIP-seq
MIRT1395671	hsa-miR-30d	CLIP-seq
MIRT1395672	hsa-miR-30e	CLIP-seq
MIRT1395673	hsa-miR-3119	CLIP-seq
MIRT1395674	hsa-miR-4464	CLIP-seq
MIRT1395675	hsa-miR-4639-3p	CLIP-seq
MIRT1395676	hsa-miR-4748	CLIP-seq
MIRT1395677	hsa-miR-668	CLIP-seq
MIRT1554200	hsa-miR-199a-3p	CLIP-seq
MIRT1554201	hsa-miR-199b-3p	CLIP-seq
MIRT1554202	hsa-miR-3129-5p	CLIP-seq
MIRT1395635	hsa-miR-3148	CLIP-seq
MIRT1395639	hsa-miR-3611	CLIP-seq
MIRT1554203	hsa-miR-3681	CLIP-seq
MIRT1554204	hsa-miR-4274	CLIP-seq
MIRT1554205	hsa-miR-4519	CLIP-seq
MIRT1395659	hsa-miR-548a-3p	CLIP-seq
MIRT1395661	hsa-miR-548e	CLIP-seq
MIRT1395662	hsa-miR-548f	CLIP-seq
MIRT2118687	hsa-miR-1252	CLIP-seq
MIRT2118688	hsa-miR-1273d	CLIP-seq
MIRT1395639	hsa-miR-3611	CLIP-seq
MIRT2118689	hsa-miR-376c	CLIP-seq
MIRT2118690	hsa-miR-4277	CLIP-seq
MIRT2118691	hsa-miR-4496	CLIP-seq
MIRT2118692	hsa-miR-4697-3p	CLIP-seq
MIRT2118693	hsa-miR-513c	CLIP-seq
MIRT2118694	hsa-miR-514b-5p	CLIP-seq
MIRT2118695	hsa-miR-548b-3p	CLIP-seq
MIRT1395667	hsa-miR-935	CLIP-seq
MIRT2118696	hsa-miR-4708-3p	CLIP-seq
MIRT1395668	hsa-miR-30a	CLIP-seq
MIRT1395669	hsa-miR-30b	CLIP-seq
MIRT1395670	hsa-miR-30c	CLIP-seq
MIRT1395671	hsa-miR-30d	CLIP-seq
MIRT1395672	hsa-miR-30e	CLIP-seq
MIRT1395674	hsa-miR-4464	CLIP-seq
MIRT1395676	hsa-miR-4748	CLIP-seq
MIRT2433629	hsa-miR-1297	CLIP-seq
MIRT1554200	hsa-miR-199a-3p	CLIP-seq
MIRT1554201	hsa-miR-199b-3p	CLIP-seq
MIRT2433630	hsa-miR-223	CLIP-seq
MIRT2433631	hsa-miR-26a	CLIP-seq
MIRT2433632	hsa-miR-26b	CLIP-seq
MIRT1554202	hsa-miR-3129-5p	CLIP-seq
MIRT2433633	hsa-miR-3140-3p	CLIP-seq
MIRT1395635	hsa-miR-3148	CLIP-seq
MIRT1554203	hsa-miR-3681	CLIP-seq
MIRT2118689	hsa-miR-376c	CLIP-seq
MIRT2433634	hsa-miR-380	CLIP-seq
MIRT2433635	hsa-miR-382	CLIP-seq
MIRT2433636	hsa-miR-4272	CLIP-seq
MIRT1554204	hsa-miR-4274	CLIP-seq
MIRT2433637	hsa-miR-4299	CLIP-seq
MIRT2433638	hsa-miR-4456	CLIP-seq
MIRT2433639	hsa-miR-4465	CLIP-seq
MIRT1554205	hsa-miR-4519	CLIP-seq
MIRT2433640	hsa-miR-4536	CLIP-seq
MIRT2433641	hsa-miR-4691-3p	CLIP-seq
MIRT2118692	hsa-miR-4697-3p	CLIP-seq
MIRT2433642	hsa-miR-4795-3p	CLIP-seq
MIRT2433643	hsa-miR-548q	CLIP-seq
MIRT1395667	hsa-miR-935	CLIP-seq
MIRT2634677	hsa-miR-101	CLIP-seq
MIRT2634678	hsa-miR-1227	CLIP-seq
MIRT1395625	hsa-miR-1257	CLIP-seq
MIRT2634679	hsa-miR-1262	CLIP-seq
MIRT1395627	hsa-miR-1273g	CLIP-seq
MIRT2634680	hsa-miR-1303	CLIP-seq
MIRT2634681	hsa-miR-1305	CLIP-seq
MIRT2634682	hsa-miR-1322	CLIP-seq
MIRT2634683	hsa-miR-1323	CLIP-seq
MIRT2634684	hsa-miR-144	CLIP-seq
MIRT1395628	hsa-miR-146a	CLIP-seq
MIRT1395629	hsa-miR-146b-5p	CLIP-seq
MIRT2634685	hsa-miR-150	CLIP-seq
MIRT1395630	hsa-miR-155	CLIP-seq
MIRT1395631	hsa-miR-185	CLIP-seq
MIRT2634686	hsa-miR-188-3p	CLIP-seq
MIRT1554200	hsa-miR-199a-3p	CLIP-seq
MIRT1554201	hsa-miR-199b-3p	CLIP-seq
MIRT2634687	hsa-miR-2113	CLIP-seq
MIRT2634688	hsa-miR-27a	CLIP-seq
MIRT2634689	hsa-miR-27b	CLIP-seq
MIRT2634690	hsa-miR-297	CLIP-seq
MIRT1395632	hsa-miR-3074-3p	CLIP-seq
MIRT1395673	hsa-miR-3119	CLIP-seq
MIRT2634691	hsa-miR-3120-3p	CLIP-seq
MIRT1395634	hsa-miR-3123	CLIP-seq
MIRT2634692	hsa-miR-3126-3p	CLIP-seq
MIRT1554202	hsa-miR-3129-5p	CLIP-seq
MIRT2634693	hsa-miR-3143	CLIP-seq
MIRT1395635	hsa-miR-3148	CLIP-seq
MIRT2634694	hsa-miR-3149	CLIP-seq
MIRT2634695	hsa-miR-3163	CLIP-seq
MIRT2634696	hsa-miR-3189-3p	CLIP-seq
MIRT1395637	hsa-miR-323b-5p	CLIP-seq
MIRT2634697	hsa-miR-3545-3p	CLIP-seq
MIRT1395638	hsa-miR-3607-3p	CLIP-seq
MIRT1395639	hsa-miR-3611	CLIP-seq
MIRT2634698	hsa-miR-3614-5p	CLIP-seq
MIRT2634699	hsa-miR-3653	CLIP-seq
MIRT2634700	hsa-miR-3658	CLIP-seq
MIRT1554203	hsa-miR-3681	CLIP-seq
MIRT2634701	hsa-miR-3685	CLIP-seq
MIRT1395640	hsa-miR-3688-3p	CLIP-seq
MIRT1395641	hsa-miR-3689a-3p	CLIP-seq
MIRT1395642	hsa-miR-3689c	CLIP-seq
MIRT2118689	hsa-miR-376c	CLIP-seq
MIRT2634702	hsa-miR-3919	CLIP-seq
MIRT2634703	hsa-miR-3925-5p	CLIP-seq
MIRT2634704	hsa-miR-3973	CLIP-seq
MIRT2634705	hsa-miR-410	CLIP-seq
MIRT2634706	hsa-miR-421	CLIP-seq
MIRT1554204	hsa-miR-4274	CLIP-seq
MIRT2118690	hsa-miR-4277	CLIP-seq
MIRT2634707	hsa-miR-4279	CLIP-seq
MIRT1395643	hsa-miR-4287	CLIP-seq
MIRT2634708	hsa-miR-4303	CLIP-seq
MIRT1395644	hsa-miR-4306	CLIP-seq
MIRT2634709	hsa-miR-4307	CLIP-seq
MIRT2634710	hsa-miR-4310	CLIP-seq
MIRT2634711	hsa-miR-4330	CLIP-seq
MIRT1395645	hsa-miR-4422	CLIP-seq
MIRT2634712	hsa-miR-4424	CLIP-seq
MIRT2634713	hsa-miR-4426	CLIP-seq
MIRT2634714	hsa-miR-4455	CLIP-seq
MIRT2634715	hsa-miR-4474-3p	CLIP-seq
MIRT1395646	hsa-miR-4481	CLIP-seq
MIRT2118691	hsa-miR-4496	CLIP-seq
MIRT1554205	hsa-miR-4519	CLIP-seq
MIRT2433640	hsa-miR-4536	CLIP-seq
MIRT1395647	hsa-miR-4644	CLIP-seq
MIRT2634716	hsa-miR-4647	CLIP-seq
MIRT2634717	hsa-miR-4662b	CLIP-seq
MIRT2634718	hsa-miR-4682	CLIP-seq
MIRT1395649	hsa-miR-4685-3p	CLIP-seq
MIRT2433641	hsa-miR-4691-3p	CLIP-seq
MIRT2634719	hsa-miR-4695-5p	CLIP-seq
MIRT1395650	hsa-miR-4700-3p	CLIP-seq
MIRT2634720	hsa-miR-4701-3p	CLIP-seq
MIRT2634721	hsa-miR-4709-5p	CLIP-seq
MIRT2634722	hsa-miR-4713-5p	CLIP-seq
MIRT2634723	hsa-miR-4720-3p	CLIP-seq
MIRT2634724	hsa-miR-4724-3p	CLIP-seq
MIRT2634725	hsa-miR-4738-3p	CLIP-seq
MIRT1395651	hsa-miR-4745-5p	CLIP-seq
MIRT2634726	hsa-miR-4756-3p	CLIP-seq
MIRT1395652	hsa-miR-4758-5p	CLIP-seq
MIRT2634727	hsa-miR-4762-3p	CLIP-seq
MIRT1395653	hsa-miR-4764-3p	CLIP-seq
MIRT2634728	hsa-miR-4764-5p	CLIP-seq
MIRT1395654	hsa-miR-4768-3p	CLIP-seq
MIRT2634729	hsa-miR-4775	CLIP-seq
MIRT1395655	hsa-miR-4780	CLIP-seq
MIRT2634730	hsa-miR-4782-5p	CLIP-seq
MIRT1395656	hsa-miR-4789-3p	CLIP-seq
MIRT2634731	hsa-miR-4804-3p	CLIP-seq
MIRT2634732	hsa-miR-491-3p	CLIP-seq
MIRT1395658	hsa-miR-494	CLIP-seq
MIRT2634733	hsa-miR-495	CLIP-seq
MIRT2634734	hsa-miR-508-3p	CLIP-seq
MIRT2634735	hsa-miR-5096	CLIP-seq
MIRT2634736	hsa-miR-513a-3p	CLIP-seq
MIRT2634737	hsa-miR-513a-5p	CLIP-seq
MIRT2118693	hsa-miR-513c	CLIP-seq
MIRT2118694	hsa-miR-514b-5p	CLIP-seq
MIRT2634738	hsa-miR-532-3p	CLIP-seq
MIRT2634739	hsa-miR-532-5p	CLIP-seq
MIRT2634740	hsa-miR-543	CLIP-seq
MIRT1395659	hsa-miR-548a-3p	CLIP-seq
MIRT2634741	hsa-miR-548ac	CLIP-seq
MIRT2634742	hsa-miR-548ae	CLIP-seq
MIRT2634743	hsa-miR-548ag	CLIP-seq
MIRT2634744	hsa-miR-548ai	CLIP-seq
MIRT2634745	hsa-miR-548aj	CLIP-seq
MIRT2634746	hsa-miR-548am	CLIP-seq
MIRT1395660	hsa-miR-548c-3p	CLIP-seq
MIRT2634747	hsa-miR-548d-3p	CLIP-seq
MIRT1395661	hsa-miR-548e	CLIP-seq
MIRT1395662	hsa-miR-548f	CLIP-seq
MIRT2634748	hsa-miR-548k	CLIP-seq
MIRT2634749	hsa-miR-548m	CLIP-seq
MIRT2634750	hsa-miR-548n	CLIP-seq
MIRT2634751	hsa-miR-548o	CLIP-seq
MIRT2634752	hsa-miR-548x	CLIP-seq
MIRT2634753	hsa-miR-548z	CLIP-seq
MIRT2634754	hsa-miR-562	CLIP-seq
MIRT2634755	hsa-miR-568	CLIP-seq
MIRT1395663	hsa-miR-570	CLIP-seq
MIRT2634756	hsa-miR-576-3p	CLIP-seq
MIRT2634757	hsa-miR-584	CLIP-seq
MIRT2634758	hsa-miR-586	CLIP-seq
MIRT2634759	hsa-miR-590-3p	CLIP-seq
MIRT2634760	hsa-miR-598	CLIP-seq
MIRT2634761	hsa-miR-609	CLIP-seq
MIRT1395664	hsa-miR-623	CLIP-seq
MIRT1395666	hsa-miR-656	CLIP-seq
MIRT2634762	hsa-miR-759	CLIP-seq
MIRT2634763	hsa-miR-892a	CLIP-seq
MIRT1395667	hsa-miR-935	CLIP-seq
MIRT2634764	hsa-miR-938	CLIP-seq
MIRT2634678	hsa-miR-1227	CLIP-seq
MIRT2634679	hsa-miR-1262	CLIP-seq
MIRT1395627	hsa-miR-1273g	CLIP-seq
MIRT2634680	hsa-miR-1303	CLIP-seq
MIRT2634681	hsa-miR-1305	CLIP-seq
MIRT2634682	hsa-miR-1322	CLIP-seq
MIRT2634683	hsa-miR-1323	CLIP-seq
MIRT2634685	hsa-miR-150	CLIP-seq
MIRT1395630	hsa-miR-155	CLIP-seq
MIRT2634686	hsa-miR-188-3p	CLIP-seq
MIRT1554200	hsa-miR-199a-3p	CLIP-seq
MIRT1554201	hsa-miR-199b-3p	CLIP-seq
MIRT2692198	hsa-miR-203	CLIP-seq
MIRT2692199	hsa-miR-2052	CLIP-seq
MIRT2634688	hsa-miR-27a	CLIP-seq
MIRT2634689	hsa-miR-27b	CLIP-seq
MIRT2634690	hsa-miR-297	CLIP-seq
MIRT1395632	hsa-miR-3074-3p	CLIP-seq
MIRT1395673	hsa-miR-3119	CLIP-seq
MIRT2634691	hsa-miR-3120-3p	CLIP-seq
MIRT1395634	hsa-miR-3123	CLIP-seq
MIRT2634692	hsa-miR-3126-3p	CLIP-seq
MIRT1554202	hsa-miR-3129-5p	CLIP-seq
MIRT2634693	hsa-miR-3143	CLIP-seq
MIRT1395635	hsa-miR-3148	CLIP-seq
MIRT2634694	hsa-miR-3149	CLIP-seq
MIRT2634695	hsa-miR-3163	CLIP-seq
MIRT2634697	hsa-miR-3545-3p	CLIP-seq
MIRT1395639	hsa-miR-3611	CLIP-seq
MIRT2634698	hsa-miR-3614-5p	CLIP-seq
MIRT1554203	hsa-miR-3681	CLIP-seq
MIRT2634701	hsa-miR-3685	CLIP-seq
MIRT1395640	hsa-miR-3688-3p	CLIP-seq
MIRT2118689	hsa-miR-376c	CLIP-seq
MIRT2634702	hsa-miR-3919	CLIP-seq
MIRT2634703	hsa-miR-3925-5p	CLIP-seq
MIRT2634704	hsa-miR-3973	CLIP-seq
MIRT2634705	hsa-miR-410	CLIP-seq
MIRT2634706	hsa-miR-421	CLIP-seq
MIRT1554204	hsa-miR-4274	CLIP-seq
MIRT2118690	hsa-miR-4277	CLIP-seq
MIRT2634707	hsa-miR-4279	CLIP-seq
MIRT2634708	hsa-miR-4303	CLIP-seq
MIRT2634709	hsa-miR-4307	CLIP-seq
MIRT2634710	hsa-miR-4310	CLIP-seq
MIRT2634711	hsa-miR-4330	CLIP-seq
MIRT1395645	hsa-miR-4422	CLIP-seq
MIRT2634712	hsa-miR-4424	CLIP-seq
MIRT2634713	hsa-miR-4426	CLIP-seq
MIRT2634714	hsa-miR-4455	CLIP-seq
MIRT1395646	hsa-miR-4481	CLIP-seq
MIRT2118691	hsa-miR-4496	CLIP-seq
MIRT1554205	hsa-miR-4519	CLIP-seq
MIRT2433640	hsa-miR-4536	CLIP-seq
MIRT2634716	hsa-miR-4647	CLIP-seq
MIRT2634717	hsa-miR-4662b	CLIP-seq
MIRT2634718	hsa-miR-4682	CLIP-seq
MIRT2634719	hsa-miR-4695-5p	CLIP-seq
MIRT2634720	hsa-miR-4701-3p	CLIP-seq
MIRT2634721	hsa-miR-4709-5p	CLIP-seq
MIRT2634722	hsa-miR-4713-5p	CLIP-seq
MIRT2634723	hsa-miR-4720-3p	CLIP-seq
MIRT2634724	hsa-miR-4724-3p	CLIP-seq
MIRT2634725	hsa-miR-4738-3p	CLIP-seq
MIRT1395651	hsa-miR-4745-5p	CLIP-seq
MIRT2634726	hsa-miR-4756-3p	CLIP-seq
MIRT1395652	hsa-miR-4758-5p	CLIP-seq
MIRT2634727	hsa-miR-4762-3p	CLIP-seq
MIRT2634728	hsa-miR-4764-5p	CLIP-seq
MIRT2634729	hsa-miR-4775	CLIP-seq
MIRT2634730	hsa-miR-4782-5p	CLIP-seq
MIRT1395656	hsa-miR-4789-3p	CLIP-seq
MIRT2634731	hsa-miR-4804-3p	CLIP-seq
MIRT2634732	hsa-miR-491-3p	CLIP-seq
MIRT1395658	hsa-miR-494	CLIP-seq
MIRT2634734	hsa-miR-508-3p	CLIP-seq
MIRT2634735	hsa-miR-5096	CLIP-seq
MIRT2634736	hsa-miR-513a-3p	CLIP-seq
MIRT2634737	hsa-miR-513a-5p	CLIP-seq
MIRT2118693	hsa-miR-513c	CLIP-seq
MIRT2118694	hsa-miR-514b-5p	CLIP-seq
MIRT2634738	hsa-miR-532-3p	CLIP-seq
MIRT2634739	hsa-miR-532-5p	CLIP-seq
MIRT2634740	hsa-miR-543	CLIP-seq
MIRT1395659	hsa-miR-548a-3p	CLIP-seq
MIRT2634741	hsa-miR-548ac	CLIP-seq
MIRT2634742	hsa-miR-548ae	CLIP-seq
MIRT2634745	hsa-miR-548aj	CLIP-seq
MIRT2634746	hsa-miR-548am	CLIP-seq
MIRT2634747	hsa-miR-548d-3p	CLIP-seq
MIRT1395661	hsa-miR-548e	CLIP-seq
MIRT1395662	hsa-miR-548f	CLIP-seq
MIRT2634751	hsa-miR-548o	CLIP-seq
MIRT2634752	hsa-miR-548x	CLIP-seq
MIRT2634753	hsa-miR-548z	CLIP-seq
MIRT2634754	hsa-miR-562	CLIP-seq
MIRT2634755	hsa-miR-568	CLIP-seq
MIRT1395663	hsa-miR-570	CLIP-seq
MIRT2634756	hsa-miR-576-3p	CLIP-seq
MIRT2634758	hsa-miR-586	CLIP-seq
MIRT2634759	hsa-miR-590-3p	CLIP-seq
MIRT2634760	hsa-miR-598	CLIP-seq
MIRT2634761	hsa-miR-609	CLIP-seq
MIRT1395666	hsa-miR-656	CLIP-seq
MIRT2634762	hsa-miR-759	CLIP-seq
MIRT2634763	hsa-miR-892a	CLIP-seq
MIRT1395667	hsa-miR-935	CLIP-seq
MIRT2634764	hsa-miR-938	CLIP-seq

Show/Hide all (14)

Transcription factor	Regulation	Reference
BRCA1	Activation	17374731
CIITA	Unknown	12052885
CREB5	Repression	21132541
EGF	Unknown	11939722
GTF3A	Unknown	12364590
MCM5	Unknown	11248027
NR3C1	Repression	17016446
PIAS1	Unknown	17940994;19136629
RELA	Unknown	25040843
REST	Repression	23598529
STAT2	Unknown	21498520
STAT3	Activation	22693070
STAT6	Repression	19440213
TP53	Unknown	12364590

133

Show/Hide all (133)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	IDA	18035482
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	22002246
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	18035482, 21268089
GO:0000979	Function	RNA polymerase II core promoter sequence-specific DNA binding	IDA	23386060, 28753426
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	11972023, 21268089, 28753426, 32209697
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001222	Function	Transcription corepressor binding	IPI	23386060
GO:0001223	Function	Transcription coactivator binding	IPI	22002246
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IMP	16585190
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	ISS
GO:0002230	Process	Positive regulation of defense response to virus by host	IGI	26479788
GO:0002230	Process	Positive regulation of defense response to virus by host	IMP	26479788
GO:0003340	Process	Negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IDA	9630226
GO:0003700	Function	DNA-binding transcription factor activity	IDA	10820245
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9535918, 10820245, 10973496, 23386060
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005164	Function	Tumor necrosis factor receptor binding	IPI	10848577
GO:0005515	Function	Protein binding	IPI	8156998, 8605877, 8662591, 9121453, 9881977, 10848577, 11238845, 12070153, 12788789, 12867595, 15780933, 15825084, 16189514, 16273093, 16306601, 16531398, 16940534, 17275127, 17596301, 17923090, 20195357, 20576130, 21903422, 21988832, 24065129, 24335311, 24360797, 24658140, 25241761
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IC	9535918, 28753426
GO:0005634	Component	Nucleus	IDA	26479788
GO:0005634	Component	Nucleus	IDA	15322115, 18035482
GO:0005634	Component	Nucleus	IDA	10692450, 10973496, 15825084, 16306601, 21268089, 23386060, 28753426, 32209697
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10692450, 10973496, 15825084, 17275127, 23386060, 26479788, 27796300, 28753426, 32209697
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	10820245
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	28753426
GO:0006952	Process	Defense response	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IBA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IDA	11972023, 22002246, 28753426
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	NAS	9630226, 24058793
GO:0007584	Process	Response to nutrient	IEA
GO:0008015	Process	Blood circulation	IEA
GO:0008015	Process	Blood circulation	ISS
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IMP	16585190
GO:0019899	Function	Enzyme binding	IPI	26479788
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031730	Function	CCR5 chemokine receptor binding	IEA
GO:0032727	Process	Positive regulation of interferon-alpha production	IDA	28753426
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0032991	Component	Protein-containing complex	IDA	26479788
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IDA	10848577
GO:0034097	Process	Response to cytokine	IEA
GO:0034097	Process	Response to cytokine	ISS
GO:0034341	Process	Response to type II interferon	IDA	11972023
GO:0035035	Function	Histone acetyltransferase binding	IPI	26479788
GO:0035456	Process	Response to interferon-beta	IMP	24882218
GO:0035458	Process	Cellular response to interferon-beta	IDA	28753426
GO:0035458	Process	Cellular response to interferon-beta	IMP	18035482
GO:0038111	Process	Interleukin-7-mediated signaling pathway	IDA	29202461
GO:0038113	Process	Interleukin-9-mediated signaling pathway	IDA	9535918
GO:0042127	Process	Regulation of cell population proliferation	IBA
GO:0042393	Function	Histone binding	IPI	26479788
GO:0042542	Process	Response to hydrogen peroxide	IEA
GO:0042802	Function	Identical protein binding	IPI	8605877, 9630226, 18591661
GO:0042803	Function	Protein homodimerization activity	IDA	9630226, 28753426
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0042981	Process	Regulation of apoptotic process	TAS	12108949
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IMP	10848577
GO:0043434	Process	Response to peptide hormone	IBA
GO:0043434	Process	Response to peptide hormone	IEA
GO:0043434	Process	Response to peptide hormone	ISS
GO:0043542	Process	Endothelial cell migration	IMP	16585190
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0044389	Function	Ubiquitin-like protein ligase binding	IPI	26479788
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IEA
GO:0045648	Process	Positive regulation of erythrocyte differentiation	IMP	28283061
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	10973496
GO:0045893	Process	Positive regulation of DNA-templated transcription	IGI	26479788
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	26479788
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10820245, 24065129, 32209697
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	18035482
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	NAS	9630226, 24058793
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IDA	16257975
GO:0046725	Process	Negative regulation by virus of viral protein levels in host cell	IMP	15825084
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17275127
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IEA
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	ISS
GO:0051093	Process	Negative regulation of developmental process	IEA
GO:0051591	Process	Response to cAMP	IEA
GO:0051591	Process	Response to cAMP	ISS
GO:0051607	Process	Defense response to virus	IDA	28753426
GO:0051607	Process	Defense response to virus	IEA
GO:0051721	Function	Protein phosphatase 2A binding	IEA
GO:0060333	Process	Type II interferon-mediated signaling pathway	IDA	21268089
GO:0060333	Process	Type II interferon-mediated signaling pathway	IEA
GO:0060333	Process	Type II interferon-mediated signaling pathway	IMP	26479788
GO:0060333	Process	Type II interferon-mediated signaling pathway	ISS
GO:0060337	Process	Type I interferon-mediated signaling pathway	IBA
GO:0060337	Process	Type I interferon-mediated signaling pathway	IDA	23386060
GO:0060337	Process	Type I interferon-mediated signaling pathway	IEA
GO:0060337	Process	Type I interferon-mediated signaling pathway	ISS
GO:0061326	Process	Renal tubule development	IMP	20861313
GO:0070106	Process	Interleukin-27-mediated signaling pathway	IDA	32270034
GO:0070721	Component	ISGF3 complex	IBA
GO:0070721	Component	ISGF3 complex	IPI	24065129
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0071346	Process	Cellular response to type II interferon	IDA	11972023, 23386060
GO:0072136	Process	Metanephric mesenchymal cell proliferation involved in metanephros development	ISS
GO:0072162	Process	Metanephric mesenchymal cell differentiation	ISS
GO:0072308	Process	Negative regulation of metanephric nephron tubule epithelial cell differentiation	ISS
GO:0090575	Component	RNA polymerase II transcription regulator complex	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IPI	8662591, 9630226
GO:0090575	Component	RNA polymerase II transcription regulator complex	NAS	24058793
GO:0097696	Process	Cell surface receptor signaling pathway via STAT	IDA	18035482
GO:1990841	Function	Promoter-specific chromatin binding	IDA	26479788

MIM	HGNC	e!Ensembl
600555	11362	ENSG00000115415

P42224

Protein name

Signal transducer and activator of transcription 1-alpha/beta (Transcription factor ISGF-3 components p91/p84)

Protein function

Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors (PubMed:12764129, PubMed:12855578, PubMed:15322115, PubMed:23940278, PubMed:345

PDB

1BF5 , 1YVL , 2KA6 , 3WWT , 7NUF , 8D3F

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02865	STAT_int	2 → 120	STAT protein, protein interaction domain	Domain
PF01017	STAT_alpha	139 → 309	STAT protein, all-alpha domain	Family
PF02864	STAT_bind	321 → 458	STAT protein, DNA binding domain	Domain
PF00017	SH2	573 → 657	SH2 domain	Domain
PF12162	STAT1_TAZ2bind	715 → 739	STAT1 TAZ2 binding domain	Motif

Sequence

MSQWYELQQLDSKFLEQVHQLYDDSFPMEIRQYLAQWLEKQDWEHAANDVSFATIRFHDL
LSQLDDQYSRFSLENNFLLQHNIRKSKRNLQDNFQEDPIQMSMIIYSCLKEERKILENAQ
RFNQAQSGNIQSTVMLDKQKELDSKVRNVKDKVMCIEHEIKSLEDLQDEYDFKCKTLQNR
EHETNGVAKSDQKQEQLLLKKMYLMLDNKRKEVVHKIIELLNVTELTQNALINDELVEWK
RRQQSACIGGPPNACLDQLQNWFTIVAESLQQVRQQLKKLEELEQKYTYEHDPITKNKQV
LWDRTFSLFQQLIQSSFVVERQPCMPTHPQRPLVLKTGVQFTVKLRLLVKLQELNYNLKV
KVLFDKDVNERNTVKGFRKFNILGTHTKVMNMEESTNGSLAAEFRHLQLKEQKNAGTRTN
EGPLIVTEELHSLSFETQLCQPGLVIDLETTSLPVVVISNVSQLPSGWASILWYNMLVAE
PRNLSFFLTPPCARWAQLSEVLSWQFSSVTKRGLNVDQLNMLGEKLLGPNASPDGLIPWT
RFCKENINDKNFPFWLWIESILELIKKHLLPLWNDGCIMGFISKERERALLKDQQPGTFL
LRFSESSREGAITFTWVERSQNGGEPDFHAVEPYTKKELSAVTFPDIIRNYKVMAAENIP
ENPLKYLYPNIDKDHAFGKYYSRPKEAPEPMELDGPKGTGYIKTELISVSEVHPSRLQTT
DNLLPMSPEEFDEVSRIVGSVEFDSMMNTV

Sequence length

750

Interactions

View interactions

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)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	Pathogenic; Likely pathogenic	rs763759889, rs2124996723, rs1382612689, rs2124996603, rs2125062900, rs2125029430, rs2125075054, rs2125000306, rs587777628, rs587777629, rs587777630, rs387906758, rs2470465165, rs1417484130, rs1559011859 View all (37 more)	RCV001387601 RCV002031476 RCV001953772 RCV002046903 RCV001943557 View all (51 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chronic mucocutaneous candidiasis	Pathogenic	rs2125062092, rs387906759	RCV001667870 RCV000825629	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 31B	Pathogenic; Likely pathogenic	rs763759889, rs2125048161, rs2124996723, rs1382612689, rs2124996603, rs2125062900, rs2125029430, rs2125075054, rs2125000306, rs587777630, rs2125075036, rs387906758, rs2470533091, rs1417484130, rs1559011859 View all (32 more)	RCV001387601 RCV001824236 RCV002031476 RCV001953772 RCV002046903 View all (44 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited Immunodeficiency Diseases	Pathogenic; Likely pathogenic	rs587777630, rs387906763, rs1574636674, rs1574657735, rs1574657762, rs1574672718	RCV001027623 RCV001027626 RCV001027624 RCV001027628 RCV001027625 RCV001027622 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	Pathogenic; Likely pathogenic	rs763759889, rs2124996723, rs1382612689, rs2124996603, rs2125062900, rs2125029430, rs2125075054, rs2125000306, rs587777630, rs587777704, rs587777705, rs387906758, rs2470533091, rs1417484130, rs1559011859 View all (30 more)	RCV001387601 RCV002031476 RCV001953772 RCV002046903 RCV001943557 View all (42 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
STAT1-related disorder	Pathogenic; Likely pathogenic	rs587777630, rs2470484175, rs387906758, rs387906760	RCV004734695 RCV004527891 RCV004528131 RCV002286565	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (34)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Atypical Mycobacteriosis, Autosomal Dominant	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 31A	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 31C	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS NEPHRITIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGOARTICULAR JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYARTICULAR JUVENILE IDIOPATHIC ARTHRITIS, RHEUMATOID FACTOR NEGATIVE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STAT1-Related Immunodeficiency	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (548)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ablepharon	Ablepharon	BEFREE	29540554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	Pubtator	19802676	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	BEFREE	27064282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acoustic Neuroma	Acoustic Neuroma	BEFREE	31120176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	11843291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	LHGDN	11843291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Kidney Tubular Necrosis	Renal tubular necrosis	BEFREE	30403164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	9498707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28123535, 8634413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	28546428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	9028332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	22264274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27486982, 29119966, 29516506, 30881499, 31027730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	29596435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	30724425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28123535, 8634413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	23487038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	31114772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	10348340, 17962369, 26025667, 28261198, 29721391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	11556541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	33133069	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	23609054, 30324689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30368403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	31031313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	BEFREE	31031313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24343863, 28427548, 29848990, 30382187, 32706110, 34312772	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic Large Cell Lymphoma, ALK-Positive	Anaplastic Lymphoma	BEFREE	25921060		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	24292724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	24292724, 36105803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	35590143, 36826612	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	BEFREE	15604887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	32641473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	21764069, 26045772, 31885343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	20347693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Rupture	Aortic Rupture	BEFREE	20347693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	BEFREE	29748157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic anemia idiopathic	Aplastic anemia	Pubtator	35590143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17533179, 20675591, 21346151, 25196434, 25478796, 27230555, 29724817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	16096332	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	27940139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	24886659, 29928998	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	28052368	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12905466, 14962955, 16760256, 20604932, 22614743, 27626941, 30483789, 31181818, 32700875, 32840301, 32961930, 33004899, 35941675, 36524113	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	21953607, 22401175, 25199798, 27629845	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	10225979, 20093796, 26092996, 29486764, 40650018	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	10820280, 15677460, 17919711, 17983380, 18614563, 23958647, 27581546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	10820280	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	37883975	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17533179, 20675591, 21346151, 25196434, 25478796, 27230555, 29724817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	25196434, 25478796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	39234946	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	34946850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22651901, 23534974, 25707685, 27379765, 27715403, 28139313, 28601685, 28769929, 29562202, 29572810, 30030006, 30407975, 30543054, 30671054, 30801692, 31425194, 31805313 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	23534974, 27379765, 28139313, 28601685, 30543054, 30878028, 32327459, 32706110, 33679782, 35126392, 36105803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	30671054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	21953331		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28282916, 29907599		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	19965686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	33971891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	22005305, 28304404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	30038233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	15592090, 30400941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	17617740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	CLINVAR_DG	26938784, 27117246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	11520787, 36826612	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	27705947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	35003395	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10910100, 12374673, 19915608, 21185374, 21674123, 22264274, 23486482, 23592719, 24725474, 24825907, 27791205, 27862996, 28108623, 28276425, 28465475 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	14651776, 15996661, 17695542, 17868458, 22693070, 24475282, 24725474, 24728078, 24825907, 25104439, 27769057, 27791205, 27862996, 28422733, 28465475 View all (14 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	7710952	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	Pubtator	24343863, 28427548, 30187709, 31068927, 32706110, 33413180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	28427548, 30187709, 31068927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	19891767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	36281932	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	26242181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	BEFREE	21714643, 22573496, 22730530, 22847544, 25367169, 25880788, 26255980, 26514428, 26604104, 26621323, 27063510, 27114460, 27803128, 28258222, 28597685 View all (11 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23485556, 26156524, 33043814, 35910766	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18694960, 22264274, 22482967, 28865492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	25188299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	36765396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16987558, 25908103, 27939431, 30264546, 30456450, 30790509, 31827061, 34657877, 38287833, 38604154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	15592090, 30400941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17348819, 26351076, 30305853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26657115, 29751820, 33043814, 34790276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	39457004	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17573897, 23741352, 24550497, 34789838, 36281932, 36660930, 36775874, 39871215	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32640276	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	16470182, 27765924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	26797459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21571862, 23873689, 29751820, 29891489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	28150292, 39294340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	37372424	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	25478796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	25478796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	LHGDN	12759242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	12759242, 21288140, 34768815	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	15247173, 16773129, 31809599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	22496561		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29048616, 31242951		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	29048616, 31242951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28123535, 8634413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	20949125		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	30886199, 39359389	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	CLINVAR_DG	26938784, 27117246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	LHGDN	17237409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	15604887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	27873163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	29643988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29643988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12796382, 19965686, 26158860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	12855573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphoproliferative Disorder of NK-Cells	Lymphoproliferative Disorder Of Natural Killer Cells	BEFREE	30455079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	20562129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic recurrent multifocal osteomyelitis	Recurrent multifocal osteomyelitis	Pubtator	23585529	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	15490234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	35863293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	16928387, 22572638, 28342759, 29419930, 29753791, 30818341, 31569788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	11298125, 22467146, 23154639, 29794741, 31918598, 37960728	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	12171960, 20345984	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12972432, 17804871, 17875686, 18035482, 20098684, 26676844, 28819304, 30235866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	10570189, 19074829, 19476491, 35593226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18035482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	27913706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16204068, 22121102, 26759270, 27191495, 27682874, 28154246, 28179289, 28282916, 28322462, 28418858, 29061646, 29419930, 29729381, 30235866, 30333916, 30569725, 30951563, 31230364 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17804871, 20098684, 22121102, 23756862, 26676844, 26759270, 27682874, 29061646, 30736824, 36593900, 37931529, 38376276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32275681	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	24239102, 27379765, 28601685, 30543054, 31512162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	29702748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	33193371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	20957108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	29776446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital abnormality of vein	Venous malformation	BEFREE	18401423, 23086340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	22005305, 28304404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	28732110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1A	Congenital disorder of glycosylation	Pubtator	35711443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conjunctival Diseases	Conjunctival disease	Pubtator	20662656	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Continuous Muscle Fiber Activity Hereditary	Hereditary continuous muscle fiber activity	Pubtator	9212734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24550497, 24626739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	31171760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21307941, 25478796, 28985621, 31318097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	21307941, 25478796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	31318097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	12171960	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	22467146, 23950992, 29556615	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	31352002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	12948935, 15044214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	LHGDN	12948935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	12948935, 15107292	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	26984954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	22401175, 30483789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delirium, Dementia, Amnestic, Cognitive Disorders	Delirium, Dementia, Amnestic, Cognitive Disorders	BEFREE	22479354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	18003888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	18003888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	19398961	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28431406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	31779701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	Pubtator	23534974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29207093, 29750958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	24452877, 28873377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	11556541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	32846838, 33258553, 9212734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26228595, 29540859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26228595, 29540859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28427244, 29417186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	27629486, 32284404, 37164005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28427244, 32210958, 33562405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	11024034, 27629486, 28248954, 30665954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	19017763, 29684848, 30478987, 31629675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	28623282	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	23487038, 26362649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	20347693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22995210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	22995210	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	32572726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	23554969	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	17561467, 9069288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	24931237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	24452877, 28873377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	21722947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32401659	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35244291	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Enterocolitis	Enterocolitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Enterocolitis Necrotizing	Enterocolitis	Pubtator	33880370	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Enthesitis	Enthesitis	BEFREE	27551052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	21694534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	21694534	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	35126392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	23873689, 29751820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	31605752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	30506884, 35107757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	31605752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22631645, 25355139, 25438156, 28981100, 29855346	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	32547544	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	36899621	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	10848598, 23585528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	23585528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	10848598, 23585528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28262979, 30454647, 30625307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	12169689, 14500361, 28011640		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	17133483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28304404, 28322315, 31530714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	30886199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	30886199, 35035811	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	18431520		★★★★★ ★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	29111217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	29317695	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	26698852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	26698852	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	29651441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	29651441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	18225539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	18225539, 22242177, 23250732, 33104022, 33652086, 36834974, 38287522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23526983, 23600941, 24878287, 26362401, 27705947, 28273453, 28341197, 28671669, 29118089, 30041669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22242177, 23526983, 23600941, 24878287, 26362401, 27705947, 28273453, 28341197, 28671669, 29118089, 30041669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19423540, 28319047, 28922548, 29620180, 29800921, 30993511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19423540, 32181805, 34784299, 36980858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	20045654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	28601685	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	23676554, 29366627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	33367784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	24924312, 39619202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	33413180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	30671054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	32603365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	19424608, 22110204, 23363816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	21207025, 23363816, 25972070, 38231444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	30543054	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic encephalopathy	Pubtator	34938356	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	14690454, 21898483	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	17804510	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	24955730	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	14690454	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	12032322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	11222718, 31114772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	28791394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	19464956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	24378567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypergammaglobulinemia	Hypergammaglobulinemia	Pubtator	26162572	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	LHGDN	15998520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	19258717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	24378567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	11477536, 16470182	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity	Hypersensitivity	Pubtator	7516473	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	16965632	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31329047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	37876543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	22847544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25188299, 26045772, 32981207	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis Lamellar	Lamellar ichthyosis	Pubtator	32544098	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	20045654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	28274199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35126392, 36105803, 36826612, 37020552	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	25707685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 31A	Immunodeficiency	UNIPROT_DG	11452125, 16934001, 22573496		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 31A	Immunodeficiency	CLINVAR_DG	21714643, 21727188, 22195034, 22730530, 22847544, 23541320, 23709754, 24343863, 25367169, 26242301, 26255980, 26494717, 26604104, 26743090, 27114460, 28258222, 28597685 View all (2 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 31A	Immunodeficiency	GENOMICS_ENGLAND_DG	28258222, 29702748		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 31A	Immunodeficiency	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 31A	Immunodeficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 31B	Immunodeficiency	UNIPROT_DG	12590259, 20841510, 23709754		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 31B	Immunodeficiency	CLINVAR_DG	21714643, 21727188, 22195034, 22730530, 22847544, 23541320, 23709754, 24343863, 25367169, 26242301, 26255980, 26494717, 26604104, 26743090, 26938784 View all (4 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 31B	Immunodeficiency	ORPHANET_DG	23403048, 23534974, 23541320		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 31B	Immunodeficiency	GENOMICS_ENGLAND_DG	28258222, 29702748		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 31B	Immunodeficiency	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	11675348, 17917041, 27827829, 27913706, 29458011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	12171960, 32661180, 35655783	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	27220814, 29269245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	29207093, 29750958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin-Like Growth Factor I Deficiency	Insulin-Like Growth Factor I Deficiency	BEFREE	21396575		★★★★★ ★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	11024034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	23534974, 23709754, 27114460	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	23709754, 28161409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	35643225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	22740319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile pauciarticular chronic arthritis	Pauciarticular chronic arthritis	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	30131584, 31804622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	29567951	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	29643988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	20624457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	27798858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leishmaniasis	Leishmaniasis	Pubtator	36102410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leishmaniasis Visceral	Visceral leishmaniasis	Pubtator	36102410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21224412, 37549179, 8642285, 9657745	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28471454, 28736298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11027834, 23825585, 8634413, 8704235, 9694725	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	12393712	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11722592, 29239838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	17962369, 28261198, 29721391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	24371065		★★★★★ ★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	27798858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	14690454, 15490234, 20798561, 22096562, 23485556, 23588992, 24101445, 24967658, 28344639, 29079187, 29715456, 29762078, 30456450, 30546827, 30780004, 31011625, 31784083, 31827061 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	22488367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	15490234		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	17133483		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	28425483, 36773569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	29852455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	14690454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	34763315	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24833526, 26351076, 34685622, 35910766	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	24437638, 29912393, 30674474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Cutaneous	Cutaneous lupus erythematosus	Pubtator	34081040, 36212172	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Discoid	Discoid lupus erythematosus	Pubtator	26568320, 36212172	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17469140, 19019891, 19333953, 19404947, 23199328, 23623029, 24460726, 26968426, 27114460, 27257790, 28039018, 29257335, 29912393, 30674474, 31790472 View all (6 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	18803832, 24292724, 24451065, 33037080	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	24437638, 26568320, 29912393, 30674474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	17469140, 18803832, 19333953, 21179067, 22262184, 23199328, 24292724, 24437638, 25865496, 26663301, 27216430, 27230555, 28039018, 28256939, 29593737 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	23199328, 28064541, 28626343		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus nephritis	Pubtator	23199328	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Vulgaris	Lupus Vulgaris	BEFREE	24437638, 29912393, 30674474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	27350337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35821222	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	28601685, 32603902	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	18483262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	21418178, 29504848, 9531615	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	24655378, 26362649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	LHGDN	17145596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	9427711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	27803128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	38067097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30038233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	27742579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	25188299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	22110204, 23363816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	19494838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	27705947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10910100, 12374673, 19915608, 21185374, 21674123, 22264274, 23486482, 23592719, 24481326, 24725474, 24728078, 24825907, 27791205, 27862996, 28108623 View all (8 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	31605752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17348819, 26351076, 30305853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21571862, 29751820, 29891489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25686822, 25727013, 29133913, 30557977, 30782607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14656722, 23549086, 25566960, 26089375, 26495772, 28881828, 30877097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11162600, 23704922, 29562203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	15592090, 30400941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12748307, 16449678, 17328836, 17868458, 22182699, 22242177, 22437822, 23047602, 23486482, 24452380, 25355139, 26156524, 27378624, 27681435, 27715403 View all (24 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	26883073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	28815025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29048616, 31242951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12972432, 17804871, 17875686, 18035482, 20098684, 26676844, 28819304, 30235866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12032322, 19915608, 23486482, 28276425, 29147627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15996661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	19494838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meibomian Cyst	Meibomian Cyst	BEFREE	31637766		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10072444, 12060499, 15009724, 17488182, 20180146, 21964766, 23598529, 24371065, 26362649, 30374200, 31110180, 31216116, 9353349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10072444	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12777975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15009724, 15668815, 16169484, 18596671, 19396596, 19723881, 20103601, 20398276, 20500769, 25690042, 31216116, 9353349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	17488182	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	36203966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28431406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	24838635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	27987139, 33300108	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mevalonate Kinase Deficiency	Mevalonate kinase deficiency	Pubtator	30030262	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	37236195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	26242181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	34500779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	19891767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	40590520	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17201122, 22838736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17201122, 17363736, 22838736, 25781885, 32844992, 34327809, 35760800, 36867577	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	12161037, 14760959, 18338947, 21135020, 28094337, 28588487, 31494340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	18200504, 19398961, 24586361, 31004050, 39985494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	18338947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	36619896	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	11027834, 27686004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	11027834	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	29907599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	9028332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15805294, 23759247, 26460262, 29713954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	LHGDN	16572323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	29381915, 36553589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	31171760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	Pubtator	37020552	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy Central Core	Central core myopathy	Pubtator	24343863	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	25098831, 9212734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	34580642	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myxoma	Myxoma	BEFREE	19254804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	30455684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	10929762, 12865928, 27923823, 29492196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	11222718, 12865928, 36061358, 36310139, 37023940	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	10929762	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	27769057, 9212734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10851045, 11222718, 11494148, 12963127, 12972432, 14502555, 15054864, 15490234, 15784679, 16449678, 16799645, 17909027, 18494554, 18941537, 19424608 View all (77 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	16799645, 9531608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	22252769	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28213522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16886176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	16886176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurocognitive Disorders	Neurocognitive Disorders	BEFREE	22479354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	32981207, 34312772	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29427792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28711489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24274066, 27350337, 29946223, 30647851, 30660770, 30671927, 31085700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	23486482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	30503835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30454647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	23250732	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	26695443, 28865492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	GWASCAT_DG	23603761		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	BEFREE	24886659		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Neuritis	Optic Neuritis	BEFREE	29559175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30483789, 31886203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	19088846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteolysis	Osteolysis	Pubtator	34710525	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	BEFREE	23585529, 27856304, 28521627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	Pubtator	39849463	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	19594299, 25563300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	19594299, 23329517, 25563300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis, Age-Related	Osteoporosis	BEFREE	31702021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30796717		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21571862, 29751820, 29891489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15726096, 25826225, 26497667, 28536310, 29751820, 33043814, 33177242, 34626802, 34660776, 34790276, 35820543, 37151134	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20576130	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25686822, 25727013, 29133913, 30557977, 30782607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21321110, 22537161, 23426533, 29596435, 31548328, 32925750, 33098056	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	31347703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	22514085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paracoccidioidomycosis	Paracoccidioidomycosis	Pubtator	31572394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	18197754, 34312772, 36952070	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30826419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	30927618		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile neoplasm	Pubtator	28751665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	22995210, 23609054, 30324689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	22995210	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	26825585, 31329047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative	Seronegative polyarthritis	GWASCAT_DG	23603761		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	26984954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	20013324, 24820309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	21074499, 26491227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	30002654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	28769929, 30002654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	Pubtator	9212734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	23471820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	23471820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	18003888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	22936693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Hypothyroidism	Hypothyroidism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	29907599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14656722, 23549086, 25566960, 26089375, 26495772, 28881828, 30877097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	14656722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20053773, 24886089, 26495772, 28622443, 34622927, 35908276, 36899018	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	32354727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	20554341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	20555352, 36497125, 38115636, 8823363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	29750958, 30825251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	30503835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	30503835	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	34133010	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	20395558, 20562129, 23877858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28716119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Artery Stenosis	Renal Artery Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24626739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	20045654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	30187709, 33679782, 36105803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	30341510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12705898, 12905466, 17469140, 17932559, 22401175, 22614743, 22753649, 24562503, 26152731, 28850026, 29377743, 30286793, 30483789, 31005814		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	12833524		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis, Systemic Juvenile	Rheumatoid arthritis	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rosacea	Rosacea	Pubtator	34290700, 34987506	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	19464956, 31185230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	19464956, 20662656, 24768588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	23958683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	30131449	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	37883374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29449061, 30682504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	29449061, 33562405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleritis	Scleritis	BEFREE	17496900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	17148586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe T-cell immunodeficiency	Immunodeficiency	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	17075845, 25113744, 25736842, 29504848, 29604049, 29655283	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	19088846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	28873377, 29660465, 30544712, 30581877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	29020964	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 17	Spinocerebellar ataxia	Pubtator	25880788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	22614743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12748307, 17909027, 21833472, 27301951, 28815025, 30017387, 30030006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	17195908, 21452064, 22631645, 25355139, 28431406, 28714361, 28859974, 28981100, 29855346, 30555257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	17559122, 19596857, 21207025, 30610792, 32012175, 32012401, 32319563, 36328378, 36515567, 36929425, 37185662, 38166970, 38231444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20702412	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	23870818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	12748307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	16449678, 19424608, 22110204, 26141950, 30555157, 31182137, 31709529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of vulva	Carcinoma Of Vulva	BEFREE	29225558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	11257077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11162600, 23704922, 29259270, 29562203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22325465, 23704922, 26242264, 31113461, 32867271, 34159686, 35821222, 36353796, 9769120	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomatitis Aphthous	Aphthous stomatitis	Pubtator	21805152, 32547544, 34649540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	30558329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	7500028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	7500028	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	BEFREE	29928998		★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Large Granular Lymphocyte Leukemia	T-cell Lymphocytic Leukemia	BEFREE	27715403, 28736298, 29474442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	30588194	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thanatophoric Dysplasia	Thanatophoric Dysplasia	BEFREE	9582336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thanatophoric Dysplasia	Thanatophoric dysplasia	Pubtator	9582336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thanatophoric dysplasia, type 2	Thanatophoric Dysplasia	BEFREE	12624096, 29242050, 9069288		★★★★★ ★☆☆☆☆ Found in Text Mining only
THANATOPHORIC DYSPLASIA, TYPE I (disorder)	Thanatophoric Dysplasia	BEFREE	9582336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	21074499, 26491227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	21074499, 24820309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	10886240, 18567864		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	24924312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32964981, 35366462	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	32554601, 35769818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	35769818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23242618, 24726362, 29750542, 29796172, 29933930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	23443971, 24390667, 29750542, 29933930, 31921107, 33251982	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	18800073, 21574661, 29794741, 31005036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	17617740, 32420368, 33608980, 35685866, 39986350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	21132541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	34670303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29048616, 31099286, 31242951, 34642300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	32761670	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	31025552, 35163491	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveitis	Uveitis	BEFREE	17496900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Varicocele	Varicocele	BEFREE	26209830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	20568281, 25196434, 35126392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	25196434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous malformation	Venous malformation	BEFREE	18401423, 23086340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Malformations Multiple Cutaneous and Mucosal	Venous malformation	Pubtator	18401423	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	23306614, 25741004, 31694919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	20624457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Young Syndrome	Young syndrome	Pubtator	28427548	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

STAT1 (signal transducer and activator of transcription 1)