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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10019
Gene name	SH2B adaptor protein 3
Gene symbol	SH2B3
Synonyms (NCBI Gene)	IDDM20LNK
Chromosome	12
Chromosome location	12q24.12
Summary	This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical ro

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SNP ID	Visualize variation	Clinical significance	Consequence
rs148636776	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs202080221	G>A,C,T	Uncertain-significance, affects, pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, stop gained
rs587776885	GCGCT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs1029296641	C>A,T	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant

454

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018890	hsa-miR-335-5p	Microarray	18185580
MIRT023128	hsa-miR-124-3p	Microarray	18668037
MIRT023453	hsa-miR-30b-5p	Sequencing	20371350
MIRT024840	hsa-miR-215-5p	Microarray	19074876
MIRT026822	hsa-miR-192-5p	Microarray	19074876
MIRT030230	hsa-miR-26b-5p	Microarray	19088304
MIRT037031	hsa-miR-877-3p	CLASH	23622248
MIRT666441	hsa-miR-4433b-3p	HITS-CLIP	23824327
MIRT666440	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT666439	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT666438	hsa-miR-1248	HITS-CLIP	23824327
MIRT666437	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT666436	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT666435	hsa-miR-4327	HITS-CLIP	23824327
MIRT666434	hsa-miR-1289	HITS-CLIP	23824327
MIRT666433	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT666432	hsa-miR-623	HITS-CLIP	23824327
MIRT666431	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT666430	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT666429	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT666428	hsa-miR-5691	HITS-CLIP	23824327
MIRT666427	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT666426	hsa-miR-1273e	HITS-CLIP	23824327
MIRT666425	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT666424	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT666423	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT666422	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT666421	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT666420	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT638283	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT638282	hsa-miR-3940-3p	HITS-CLIP	23824327
MIRT653878	hsa-miR-25-3p	HITS-CLIP	23824327
MIRT653877	hsa-miR-32-5p	HITS-CLIP	23824327
MIRT653876	hsa-miR-363-3p	HITS-CLIP	23824327
MIRT653875	hsa-miR-367-3p	HITS-CLIP	23824327
MIRT653874	hsa-miR-92a-3p	HITS-CLIP	23824327
MIRT653873	hsa-miR-92b-3p	HITS-CLIP	23824327
MIRT638279	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT638280	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT638278	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT653872	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT638277	hsa-miR-380-5p	HITS-CLIP	23824327
MIRT638276	hsa-miR-563	HITS-CLIP	23824327
MIRT638275	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT638274	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT653871	hsa-miR-500a-3p	HITS-CLIP	23824327
MIRT638273	hsa-miR-7703	HITS-CLIP	23824327
MIRT638283	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT638282	hsa-miR-3940-3p	HITS-CLIP	23824327
MIRT638281	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT638279	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT638280	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT638278	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT638277	hsa-miR-380-5p	HITS-CLIP	23824327
MIRT638276	hsa-miR-563	HITS-CLIP	23824327
MIRT638275	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT638274	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT638273	hsa-miR-7703	HITS-CLIP	23824327
MIRT492296	hsa-miR-576-3p	PAR-CLIP	23592263
MIRT492295	hsa-miR-6165	PAR-CLIP	23592263
MIRT492294	hsa-miR-3159	PAR-CLIP	23592263
MIRT492293	hsa-miR-452-3p	PAR-CLIP	23592263
MIRT666441	hsa-miR-4433b-3p	HITS-CLIP	23824327
MIRT666440	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT666439	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT666438	hsa-miR-1248	HITS-CLIP	23824327
MIRT666437	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT666436	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT666435	hsa-miR-4327	HITS-CLIP	23824327
MIRT666434	hsa-miR-1289	HITS-CLIP	23824327
MIRT666433	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT666432	hsa-miR-623	HITS-CLIP	23824327
MIRT666431	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT666430	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT666429	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT666428	hsa-miR-5691	HITS-CLIP	23824327
MIRT666427	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT666426	hsa-miR-1273e	HITS-CLIP	23824327
MIRT666425	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT666424	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT666423	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT666422	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT666421	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT666420	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT638283	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT638282	hsa-miR-3940-3p	HITS-CLIP	23824327
MIRT653878	hsa-miR-25-3p	HITS-CLIP	23824327
MIRT653877	hsa-miR-32-5p	HITS-CLIP	23824327
MIRT653876	hsa-miR-363-3p	HITS-CLIP	23824327
MIRT653875	hsa-miR-367-3p	HITS-CLIP	23824327
MIRT653874	hsa-miR-92a-3p	HITS-CLIP	23824327
MIRT653873	hsa-miR-92b-3p	HITS-CLIP	23824327
MIRT638279	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT638280	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT638278	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT653872	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT638277	hsa-miR-380-5p	HITS-CLIP	23824327
MIRT638276	hsa-miR-563	HITS-CLIP	23824327
MIRT638275	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT638274	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT653871	hsa-miR-500a-3p	HITS-CLIP	23824327
MIRT638273	hsa-miR-7703	HITS-CLIP	23824327
MIRT638283	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT638282	hsa-miR-3940-3p	HITS-CLIP	23824327
MIRT638281	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT638279	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT638280	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT638278	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT638277	hsa-miR-380-5p	HITS-CLIP	23824327
MIRT638276	hsa-miR-563	HITS-CLIP	23824327
MIRT638275	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT638274	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT638273	hsa-miR-7703	HITS-CLIP	23824327
MIRT492296	hsa-miR-576-3p	PAR-CLIP	23592263
MIRT492295	hsa-miR-6165	PAR-CLIP	23592263
MIRT492294	hsa-miR-3159	PAR-CLIP	23592263
MIRT492293	hsa-miR-452-3p	PAR-CLIP	23592263
MIRT1344137	hsa-miR-1179	CLIP-seq
MIRT1344138	hsa-miR-1193	CLIP-seq
MIRT1344139	hsa-miR-1200	CLIP-seq
MIRT1344140	hsa-miR-1207-5p	CLIP-seq
MIRT1344141	hsa-miR-1245b-3p	CLIP-seq
MIRT1344142	hsa-miR-1252	CLIP-seq
MIRT1344143	hsa-miR-125a-3p	CLIP-seq
MIRT1344144	hsa-miR-1299	CLIP-seq
MIRT1344145	hsa-miR-132	CLIP-seq
MIRT1344146	hsa-miR-134	CLIP-seq
MIRT1344147	hsa-miR-181a	CLIP-seq
MIRT1344148	hsa-miR-181b	CLIP-seq
MIRT1344149	hsa-miR-181c	CLIP-seq
MIRT1344150	hsa-miR-181d	CLIP-seq
MIRT1344151	hsa-miR-212	CLIP-seq
MIRT1344152	hsa-miR-224	CLIP-seq
MIRT1344153	hsa-miR-23a	CLIP-seq
MIRT1344154	hsa-miR-23b	CLIP-seq
MIRT1344155	hsa-miR-23c	CLIP-seq
MIRT1344156	hsa-miR-3118	CLIP-seq
MIRT1344157	hsa-miR-3180-5p	CLIP-seq
MIRT1344158	hsa-miR-3202	CLIP-seq
MIRT1344159	hsa-miR-326	CLIP-seq
MIRT1344160	hsa-miR-330-5p	CLIP-seq
MIRT1344161	hsa-miR-3591-5p	CLIP-seq
MIRT1344162	hsa-miR-3607-3p	CLIP-seq
MIRT1344163	hsa-miR-3657	CLIP-seq
MIRT1344164	hsa-miR-3665	CLIP-seq
MIRT1344165	hsa-miR-3677-5p	CLIP-seq
MIRT1344166	hsa-miR-3682-3p	CLIP-seq
MIRT1344167	hsa-miR-3686	CLIP-seq
MIRT1344168	hsa-miR-377	CLIP-seq
MIRT1344169	hsa-miR-3908	CLIP-seq
MIRT1344170	hsa-miR-3919	CLIP-seq
MIRT1344171	hsa-miR-3942-5p	CLIP-seq
MIRT1344172	hsa-miR-4255	CLIP-seq
MIRT1344173	hsa-miR-4262	CLIP-seq
MIRT1344174	hsa-miR-4275	CLIP-seq
MIRT1344175	hsa-miR-4300	CLIP-seq
MIRT1344176	hsa-miR-4456	CLIP-seq
MIRT1344177	hsa-miR-4457	CLIP-seq
MIRT1344178	hsa-miR-4476	CLIP-seq
MIRT1344179	hsa-miR-4502	CLIP-seq
MIRT1344180	hsa-miR-4533	CLIP-seq
MIRT1344181	hsa-miR-4667-3p	CLIP-seq
MIRT1344182	hsa-miR-4701-5p	CLIP-seq
MIRT1344183	hsa-miR-4703-5p	CLIP-seq
MIRT1344184	hsa-miR-4718	CLIP-seq
MIRT1344185	hsa-miR-4736	CLIP-seq
MIRT1344186	hsa-miR-4760-3p	CLIP-seq
MIRT1344187	hsa-miR-4763-3p	CLIP-seq
MIRT1344188	hsa-miR-4766-3p	CLIP-seq
MIRT1344189	hsa-miR-4768-5p	CLIP-seq
MIRT1344190	hsa-miR-513b	CLIP-seq
MIRT1344191	hsa-miR-520a-5p	CLIP-seq
MIRT1344192	hsa-miR-525-5p	CLIP-seq
MIRT1344193	hsa-miR-541	CLIP-seq
MIRT1344194	hsa-miR-548n	CLIP-seq
MIRT1344195	hsa-miR-548t	CLIP-seq
MIRT1344196	hsa-miR-564	CLIP-seq
MIRT1344197	hsa-miR-570	CLIP-seq
MIRT1344198	hsa-miR-579	CLIP-seq
MIRT1344199	hsa-miR-588	CLIP-seq
MIRT1344200	hsa-miR-589	CLIP-seq
MIRT1344201	hsa-miR-615-5p	CLIP-seq
MIRT1344202	hsa-miR-651	CLIP-seq
MIRT1344203	hsa-miR-654-5p	CLIP-seq
MIRT1344204	hsa-miR-664	CLIP-seq
MIRT1344205	hsa-miR-875-3p	CLIP-seq
MIRT1344206	hsa-miR-920	CLIP-seq
MIRT1344207	hsa-miR-943	CLIP-seq
MIRT1557020	hsa-miR-4417	CLIP-seq
MIRT1557021	hsa-miR-4428	CLIP-seq
MIRT1922359	hsa-miR-1266	CLIP-seq
MIRT1922360	hsa-miR-4518	CLIP-seq
MIRT1344138	hsa-miR-1193	CLIP-seq
MIRT2101756	hsa-miR-1237	CLIP-seq
MIRT2101757	hsa-miR-1324	CLIP-seq
MIRT2101758	hsa-miR-138	CLIP-seq
MIRT2101759	hsa-miR-300	CLIP-seq
MIRT2101760	hsa-miR-3122	CLIP-seq
MIRT2101761	hsa-miR-3165	CLIP-seq
MIRT1344158	hsa-miR-3202	CLIP-seq
MIRT2101762	hsa-miR-3622a-3p	CLIP-seq
MIRT2101763	hsa-miR-3622b-3p	CLIP-seq
MIRT2101764	hsa-miR-3656	CLIP-seq
MIRT2101765	hsa-miR-3689a-3p	CLIP-seq
MIRT2101766	hsa-miR-3689c	CLIP-seq
MIRT2101767	hsa-miR-381	CLIP-seq
MIRT2101768	hsa-miR-384	CLIP-seq
MIRT2101769	hsa-miR-3913-5p	CLIP-seq
MIRT2101770	hsa-miR-3926	CLIP-seq
MIRT1344175	hsa-miR-4300	CLIP-seq
MIRT2101771	hsa-miR-4436b-5p	CLIP-seq
MIRT2101772	hsa-miR-4505	CLIP-seq
MIRT1344180	hsa-miR-4533	CLIP-seq
MIRT2101773	hsa-miR-4645-5p	CLIP-seq
MIRT2101774	hsa-miR-4662a-5p	CLIP-seq
MIRT2101775	hsa-miR-4673	CLIP-seq
MIRT2101776	hsa-miR-4676-5p	CLIP-seq
MIRT2101777	hsa-miR-4728-5p	CLIP-seq
MIRT2101778	hsa-miR-4755-3p	CLIP-seq
MIRT2101779	hsa-miR-4766-5p	CLIP-seq
MIRT2101780	hsa-miR-4786-5p	CLIP-seq
MIRT2101781	hsa-miR-544b	CLIP-seq
MIRT2101782	hsa-miR-548s	CLIP-seq
MIRT2101783	hsa-miR-550a	CLIP-seq
MIRT2101784	hsa-miR-575	CLIP-seq
MIRT1344206	hsa-miR-920	CLIP-seq
MIRT2101757	hsa-miR-1324	CLIP-seq
MIRT2326130	hsa-miR-145	CLIP-seq
MIRT2326131	hsa-miR-192	CLIP-seq
MIRT2326132	hsa-miR-215	CLIP-seq
MIRT2326133	hsa-miR-30a	CLIP-seq
MIRT2326134	hsa-miR-30b	CLIP-seq
MIRT2326135	hsa-miR-30c	CLIP-seq
MIRT2326136	hsa-miR-30d	CLIP-seq
MIRT2326137	hsa-miR-30e	CLIP-seq
MIRT2101760	hsa-miR-3122	CLIP-seq
MIRT2101761	hsa-miR-3165	CLIP-seq
MIRT2326138	hsa-miR-3178	CLIP-seq
MIRT1344158	hsa-miR-3202	CLIP-seq
MIRT1344162	hsa-miR-3607-3p	CLIP-seq
MIRT2101762	hsa-miR-3622a-3p	CLIP-seq
MIRT2101763	hsa-miR-3622b-3p	CLIP-seq
MIRT2101764	hsa-miR-3656	CLIP-seq
MIRT1344167	hsa-miR-3686	CLIP-seq
MIRT2101765	hsa-miR-3689a-3p	CLIP-seq
MIRT2101766	hsa-miR-3689c	CLIP-seq
MIRT2101769	hsa-miR-3913-5p	CLIP-seq
MIRT2326139	hsa-miR-4328	CLIP-seq
MIRT1557021	hsa-miR-4428	CLIP-seq
MIRT1344178	hsa-miR-4476	CLIP-seq
MIRT2326140	hsa-miR-4486	CLIP-seq
MIRT2101772	hsa-miR-4505	CLIP-seq
MIRT1344180	hsa-miR-4533	CLIP-seq
MIRT2326141	hsa-miR-4654	CLIP-seq
MIRT2326142	hsa-miR-4693-3p	CLIP-seq
MIRT2101777	hsa-miR-4728-5p	CLIP-seq
MIRT2326143	hsa-miR-4764-5p	CLIP-seq
MIRT2326144	hsa-miR-4769-5p	CLIP-seq
MIRT2326145	hsa-miR-489	CLIP-seq
MIRT1344193	hsa-miR-541	CLIP-seq
MIRT2101781	hsa-miR-544b	CLIP-seq
MIRT2326146	hsa-miR-610	CLIP-seq
MIRT1344203	hsa-miR-654-5p	CLIP-seq
MIRT2101758	hsa-miR-138	CLIP-seq
MIRT2394345	hsa-miR-149	CLIP-seq
MIRT2394346	hsa-miR-196a	CLIP-seq
MIRT2394347	hsa-miR-196b	CLIP-seq
MIRT2394348	hsa-miR-2054	CLIP-seq
MIRT2394349	hsa-miR-24	CLIP-seq
MIRT2394350	hsa-miR-296-3p	CLIP-seq
MIRT2101760	hsa-miR-3122	CLIP-seq
MIRT2101761	hsa-miR-3165	CLIP-seq
MIRT2394351	hsa-miR-331-5p	CLIP-seq
MIRT2394352	hsa-miR-338-3p	CLIP-seq
MIRT1344161	hsa-miR-3591-5p	CLIP-seq
MIRT1344162	hsa-miR-3607-3p	CLIP-seq
MIRT2394353	hsa-miR-3622b-5p	CLIP-seq
MIRT2394354	hsa-miR-3652	CLIP-seq
MIRT2101764	hsa-miR-3656	CLIP-seq
MIRT2101765	hsa-miR-3689a-3p	CLIP-seq
MIRT2101766	hsa-miR-3689c	CLIP-seq
MIRT2394355	hsa-miR-3689d	CLIP-seq
MIRT2394356	hsa-miR-3907	CLIP-seq
MIRT2101769	hsa-miR-3913-5p	CLIP-seq
MIRT2394357	hsa-miR-3927	CLIP-seq
MIRT2394358	hsa-miR-4284	CLIP-seq
MIRT2394359	hsa-miR-4307	CLIP-seq
MIRT2394360	hsa-miR-4310	CLIP-seq
MIRT2394361	hsa-miR-4430	CLIP-seq
MIRT1344178	hsa-miR-4476	CLIP-seq
MIRT2394362	hsa-miR-4494	CLIP-seq
MIRT2101772	hsa-miR-4505	CLIP-seq
MIRT2394363	hsa-miR-4652-3p	CLIP-seq
MIRT2101777	hsa-miR-4728-5p	CLIP-seq
MIRT2394364	hsa-miR-499a-5p	CLIP-seq
MIRT2394365	hsa-miR-548q	CLIP-seq
MIRT2394366	hsa-miR-597	CLIP-seq
MIRT2394367	hsa-miR-636	CLIP-seq
MIRT2394368	hsa-miR-668	CLIP-seq
MIRT2459266	hsa-miR-10a	CLIP-seq
MIRT2459267	hsa-miR-10b	CLIP-seq
MIRT2101760	hsa-miR-3122	CLIP-seq
MIRT2459268	hsa-miR-339-5p	CLIP-seq
MIRT2101765	hsa-miR-3689a-3p	CLIP-seq
MIRT2101766	hsa-miR-3689c	CLIP-seq
MIRT2101769	hsa-miR-3913-5p	CLIP-seq
MIRT2459269	hsa-miR-4421	CLIP-seq
MIRT2101773	hsa-miR-4645-5p	CLIP-seq
MIRT2101774	hsa-miR-4662a-5p	CLIP-seq
MIRT2101775	hsa-miR-4673	CLIP-seq
MIRT2101776	hsa-miR-4676-5p	CLIP-seq
MIRT2459270	hsa-miR-4684-5p	CLIP-seq
MIRT2101777	hsa-miR-4728-5p	CLIP-seq
MIRT2101778	hsa-miR-4755-3p	CLIP-seq
MIRT2459271	hsa-miR-548c-3p	CLIP-seq
MIRT2101784	hsa-miR-575	CLIP-seq
MIRT2459272	hsa-miR-593	CLIP-seq
MIRT2621826	hsa-miR-106a	CLIP-seq
MIRT2621827	hsa-miR-106b	CLIP-seq
MIRT2459266	hsa-miR-10a	CLIP-seq
MIRT2459267	hsa-miR-10b	CLIP-seq
MIRT1344139	hsa-miR-1200	CLIP-seq
MIRT2621828	hsa-miR-1285	CLIP-seq
MIRT2621829	hsa-miR-1301	CLIP-seq
MIRT2101757	hsa-miR-1324	CLIP-seq
MIRT2101758	hsa-miR-138	CLIP-seq
MIRT2394345	hsa-miR-149	CLIP-seq
MIRT2621830	hsa-miR-17	CLIP-seq
MIRT2621831	hsa-miR-1827	CLIP-seq
MIRT2621832	hsa-miR-1913	CLIP-seq
MIRT2394348	hsa-miR-2054	CLIP-seq
MIRT2621833	hsa-miR-20a	CLIP-seq
MIRT2621834	hsa-miR-20b	CLIP-seq
MIRT2621835	hsa-miR-2115	CLIP-seq
MIRT2621836	hsa-miR-219-2-3p	CLIP-seq
MIRT2394349	hsa-miR-24	CLIP-seq
MIRT2621837	hsa-miR-2964a-3p	CLIP-seq
MIRT2621838	hsa-miR-3064-3p	CLIP-seq
MIRT2101760	hsa-miR-3122	CLIP-seq
MIRT2101761	hsa-miR-3165	CLIP-seq
MIRT2621839	hsa-miR-3187-5p	CLIP-seq
MIRT2621840	hsa-miR-3192	CLIP-seq
MIRT2621841	hsa-miR-3194-5p	CLIP-seq
MIRT2621842	hsa-miR-324-3p	CLIP-seq
MIRT2394352	hsa-miR-338-3p	CLIP-seq
MIRT2459268	hsa-miR-339-5p	CLIP-seq
MIRT2621843	hsa-miR-34c-3p	CLIP-seq
MIRT1344161	hsa-miR-3591-5p	CLIP-seq
MIRT2621844	hsa-miR-3605-5p	CLIP-seq
MIRT1344162	hsa-miR-3607-3p	CLIP-seq
MIRT2621845	hsa-miR-3613-3p	CLIP-seq
MIRT2101762	hsa-miR-3622a-3p	CLIP-seq
MIRT2101763	hsa-miR-3622b-3p	CLIP-seq
MIRT2394353	hsa-miR-3622b-5p	CLIP-seq
MIRT2394354	hsa-miR-3652	CLIP-seq
MIRT2101764	hsa-miR-3656	CLIP-seq
MIRT1344166	hsa-miR-3682-3p	CLIP-seq
MIRT2101765	hsa-miR-3689a-3p	CLIP-seq
MIRT2101766	hsa-miR-3689c	CLIP-seq
MIRT2394355	hsa-miR-3689d	CLIP-seq
MIRT2621846	hsa-miR-371-5p	CLIP-seq
MIRT2621847	hsa-miR-371b-5p	CLIP-seq
MIRT2621848	hsa-miR-378g	CLIP-seq
MIRT2394356	hsa-miR-3907	CLIP-seq
MIRT2101769	hsa-miR-3913-5p	CLIP-seq
MIRT2621849	hsa-miR-3943	CLIP-seq
MIRT2621850	hsa-miR-411	CLIP-seq
MIRT1344172	hsa-miR-4255	CLIP-seq
MIRT2394358	hsa-miR-4284	CLIP-seq
MIRT2621851	hsa-miR-4303	CLIP-seq
MIRT2621852	hsa-miR-4313	CLIP-seq
MIRT2621853	hsa-miR-4314	CLIP-seq
MIRT2621854	hsa-miR-4325	CLIP-seq
MIRT2459269	hsa-miR-4421	CLIP-seq
MIRT2394361	hsa-miR-4430	CLIP-seq
MIRT2621855	hsa-miR-4449	CLIP-seq
MIRT1344178	hsa-miR-4476	CLIP-seq
MIRT2326140	hsa-miR-4486	CLIP-seq
MIRT2394362	hsa-miR-4494	CLIP-seq
MIRT1344179	hsa-miR-4502	CLIP-seq
MIRT2101772	hsa-miR-4505	CLIP-seq
MIRT2621856	hsa-miR-4539	CLIP-seq
MIRT2101773	hsa-miR-4645-5p	CLIP-seq
MIRT2621857	hsa-miR-4646-5p	CLIP-seq
MIRT2101774	hsa-miR-4662a-5p	CLIP-seq
MIRT2101775	hsa-miR-4673	CLIP-seq
MIRT2101776	hsa-miR-4676-5p	CLIP-seq
MIRT2459270	hsa-miR-4684-5p	CLIP-seq
MIRT2101777	hsa-miR-4728-5p	CLIP-seq
MIRT2621858	hsa-miR-4740-3p	CLIP-seq
MIRT2101778	hsa-miR-4755-3p	CLIP-seq
MIRT2621859	hsa-miR-4762-3p	CLIP-seq
MIRT2394364	hsa-miR-499a-5p	CLIP-seq
MIRT2621860	hsa-miR-5047	CLIP-seq
MIRT2621861	hsa-miR-516a-3p	CLIP-seq
MIRT2621862	hsa-miR-519d	CLIP-seq
MIRT2101781	hsa-miR-544b	CLIP-seq
MIRT2459271	hsa-miR-548c-3p	CLIP-seq
MIRT2394365	hsa-miR-548q	CLIP-seq
MIRT1344195	hsa-miR-548t	CLIP-seq
MIRT2101784	hsa-miR-575	CLIP-seq
MIRT1344200	hsa-miR-589	CLIP-seq
MIRT2459272	hsa-miR-593	CLIP-seq
MIRT2621863	hsa-miR-612	CLIP-seq
MIRT2394367	hsa-miR-636	CLIP-seq
MIRT2394368	hsa-miR-668	CLIP-seq
MIRT2621864	hsa-miR-765	CLIP-seq
MIRT2621865	hsa-miR-93	CLIP-seq
MIRT2621866	hsa-miR-936	CLIP-seq
MIRT2459266	hsa-miR-10a	CLIP-seq
MIRT2459267	hsa-miR-10b	CLIP-seq
MIRT2101757	hsa-miR-1324	CLIP-seq
MIRT2101758	hsa-miR-138	CLIP-seq
MIRT2394348	hsa-miR-2054	CLIP-seq
MIRT2101760	hsa-miR-3122	CLIP-seq
MIRT2101761	hsa-miR-3165	CLIP-seq
MIRT2621841	hsa-miR-3194-5p	CLIP-seq
MIRT2394352	hsa-miR-338-3p	CLIP-seq
MIRT2459268	hsa-miR-339-5p	CLIP-seq
MIRT2621844	hsa-miR-3605-5p	CLIP-seq
MIRT2101762	hsa-miR-3622a-3p	CLIP-seq
MIRT2101763	hsa-miR-3622b-3p	CLIP-seq
MIRT2394353	hsa-miR-3622b-5p	CLIP-seq
MIRT2394354	hsa-miR-3652	CLIP-seq
MIRT2101764	hsa-miR-3656	CLIP-seq
MIRT2101765	hsa-miR-3689a-3p	CLIP-seq
MIRT2101766	hsa-miR-3689c	CLIP-seq
MIRT2394356	hsa-miR-3907	CLIP-seq
MIRT2101769	hsa-miR-3913-5p	CLIP-seq
MIRT2621849	hsa-miR-3943	CLIP-seq
MIRT2621850	hsa-miR-411	CLIP-seq
MIRT2621851	hsa-miR-4303	CLIP-seq
MIRT2621852	hsa-miR-4313	CLIP-seq
MIRT2459269	hsa-miR-4421	CLIP-seq
MIRT2394361	hsa-miR-4430	CLIP-seq
MIRT2621855	hsa-miR-4449	CLIP-seq
MIRT2101772	hsa-miR-4505	CLIP-seq
MIRT2101773	hsa-miR-4645-5p	CLIP-seq
MIRT2101774	hsa-miR-4662a-5p	CLIP-seq
MIRT2101775	hsa-miR-4673	CLIP-seq
MIRT2101776	hsa-miR-4676-5p	CLIP-seq
MIRT2459270	hsa-miR-4684-5p	CLIP-seq
MIRT2101777	hsa-miR-4728-5p	CLIP-seq
MIRT2621858	hsa-miR-4740-3p	CLIP-seq
MIRT2101778	hsa-miR-4755-3p	CLIP-seq
MIRT2621859	hsa-miR-4762-3p	CLIP-seq
MIRT2101781	hsa-miR-544b	CLIP-seq
MIRT2459271	hsa-miR-548c-3p	CLIP-seq
MIRT2394365	hsa-miR-548q	CLIP-seq
MIRT2101784	hsa-miR-575	CLIP-seq
MIRT2459272	hsa-miR-593	CLIP-seq
MIRT2394367	hsa-miR-636	CLIP-seq
MIRT2621864	hsa-miR-765	CLIP-seq
MIRT2621866	hsa-miR-936	CLIP-seq

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001780	Process	Neutrophil homeostasis	IEA
GO:0001780	Process	Neutrophil homeostasis	ISS	27430239
GO:0002262	Process	Myeloid cell homeostasis	IEA
GO:0005068	Function	Transmembrane receptor protein tyrosine kinase adaptor activity	IBA
GO:0005173	Function	Stem cell factor receptor binding	IEA
GO:0005173	Function	Stem cell factor receptor binding	ISS
GO:0005515	Function	Protein binding	IPI	16273093, 24728074
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	ISS
GO:0030097	Process	Hemopoiesis	IEA
GO:0030159	Function	Signaling receptor complex adaptor activity	IEA
GO:0030159	Function	Signaling receptor complex adaptor activity	ISS
GO:0035162	Process	Embryonic hemopoiesis	IEA
GO:0035162	Process	Embryonic hemopoiesis	ISS
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035591	Function	Signaling adaptor activity	IEA
GO:0035702	Process	Monocyte homeostasis	IEA
GO:0035702	Process	Monocyte homeostasis	ISS	27430239
GO:0035855	Process	Megakaryocyte development	IEA
GO:0035855	Process	Megakaryocyte development	ISS
GO:0036016	Process	Cellular response to interleukin-3	IEA
GO:0036016	Process	Cellular response to interleukin-3	ISS
GO:0038163	Process	Thrombopoietin-mediated signaling pathway	IDA	20404132
GO:0038163	Process	Thrombopoietin-mediated signaling pathway	IEA
GO:0038163	Process	Thrombopoietin-mediated signaling pathway	ISS
GO:0038163	Process	Thrombopoietin-mediated signaling pathway	TAS	27430239
GO:0043409	Process	Negative regulation of MAPK cascade	IEA
GO:0043409	Process	Negative regulation of MAPK cascade	ISS
GO:0046426	Process	Negative regulation of receptor signaling pathway via JAK-STAT	IMP	20404132
GO:0048821	Process	Erythrocyte development	IMP	20404132
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0060218	Process	Hematopoietic stem cell differentiation	IEA
GO:0060761	Process	Negative regulation of response to cytokine stimulus	IEA
GO:0060761	Process	Negative regulation of response to cytokine stimulus	IMP	20404132
GO:0061515	Process	Myeloid cell development	IEA
GO:0070100	Process	Negative regulation of chemokine-mediated signaling pathway	IEA
GO:0070100	Process	Negative regulation of chemokine-mediated signaling pathway	ISS
GO:0090331	Process	Negative regulation of platelet aggregation	IEA
GO:0090331	Process	Negative regulation of platelet aggregation	ISS	27430239
GO:1900235	Process	Negative regulation of Kit signaling pathway	IEA
GO:1900235	Process	Negative regulation of Kit signaling pathway	ISS
GO:1904893	Process	Negative regulation of receptor signaling pathway via STAT	IEA
GO:1904893	Process	Negative regulation of receptor signaling pathway via STAT	ISS
GO:1990782	Function	Protein tyrosine kinase binding	IEA
GO:1990782	Function	Protein tyrosine kinase binding	ISS
GO:1990869	Process	Cellular response to chemokine	IEA
GO:1990869	Process	Cellular response to chemokine	ISS

MIM	HGNC	e!Ensembl
605093	29605	ENSG00000111252

Q9UQQ2

Protein name

SH2B adapter protein 3 (Lymphocyte adapter protein) (Lymphocyte-specific adapter protein Lnk) (Signal transduction protein Lnk)

Protein function

Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08916	Phe_ZIP	25 → 80	Phenylalanine zipper	Domain
PF00169	PH	202 → 307	PH domain	Domain
PF00017	SH2	364 → 441	SH2 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Preferentially expressed by lymphoid cell lines.

Sequence

MNGPALQPSSPSSAPSASPAAAPRGWSEFCELHAVAAARELARQYWLFAREHPQHAPLRA
ELVSLQFTDLFQRYFCREVRDGRAPGRDYRDTGRGPPAKAEASPEPGPGPAAPGLPKARS
SEELAPPRPPGPCSFQHFRRSLRHIFRRRSAGELPAAHTAAAPGTPGEAAETPARPGLAK
KFLPWSLAREPPPEALKEAVLRYSLADEASMDSGARWQRGRLALRRAPGPDGPDRVLELF
DPPKSSRPKLQAACSSIQEVRWCTRLEMPDNLYTFVLKVKDRTDIIFEVGDEQQLNSWMA
ELSECTGRGLESTEAEMHIPSALEPSTSSSPRGSTDSLNQGASPGGLLDPACQKTDHFLS
CYPWFHGPISRVKAAQLVQLQGPDAHGVFLVRQSETRRGEYVLTFNFQGIAKHLRLSLTE
RGQCRVQHLHFPSVVDMLHHFQRSPIPLECGAACDVRLSSYVVVVSQPPGSCNTVLFPFS
LPHWDSESLPHWGSELGLPHLSSSGCPRGLSPEGLPGRSSPPEQIFHLVPSPEELANSLQ
HLEHEPVNRARDSDYEMDSSSRSHLRAIDNQYTPL

Sequence length

575

Interactions

View interactions

	KEGG		Reactome
	Neurotrophin signaling pathway		Regulation of KIT signaling Factors involved in megakaryocyte development and platelet production

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary cancer-predisposing syndrome	Pathogenic	rs2500219496	RCV002472256	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial polycythemia due to EPO receptor mutation	Pathogenic	rs376261237	RCV002250348	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary myelofibrosis	Likely pathogenic; Pathogenic	rs751076276, rs587776885	RCV003990125 RCV000023397	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (91)

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 LYMPHOBLASTIC LEUKEMIA	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE HEPATITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD, GWAS catalog CTD, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROCYTOSIS FAMILIAL, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROCYTOSIS, FAMILIAL, 1	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL THROMBOCYTHEMIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial myelofibrosis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH RETARDATION, MILD DEVELOPMENTAL DELAY, CHRONIC HEPATITIS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH RETARDATION-MILD DEVELOPMENTAL DELAY-CHRONIC HEPATITIS SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HASHIMOTO'S THYROIDITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATENT AUTOIMMUNE DIABETES IN ADULTS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple myeloma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SH2B3-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD, GWAS catalog CTD, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocythemia 1	Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
THROMBOCYTHEMIA, ESSENTIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (201)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Cerebrovascular Accidents	Stroke	CTD_human_DG	29531354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	23908464, 27322554, 30005852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	GENOMICS_ENGLAND_DG	23908464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	26151821, 26621817, 27197191, 29917119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	27197191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23908464, 27322554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22916186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	22916186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	23749187, 26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	23844121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	23844121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27430239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	20647273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	33482886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	23263486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27430239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	24768677, 28703133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	GWASCAT_DG	24768677		★★★★★ ★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASDB_DG	21383967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22493691, 23908464, 26621817, 30110639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	22493691, 24074872, 32879140	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune lymphoproliferative disorder	Pubtator	36123612, 37277724	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	20724988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	32098966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26319099		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	27197191		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	31428775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG	30224649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Camurati-Engelmann Syndrome	Diaphyseal dysplasia	BEFREE	31292504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26319099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36059531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24704825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	23045270, 23474010, 24725463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31428775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	18805825, 19648290, 21490378, 21856087, 26535636, 26843707		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	Pubtator	19073967, 20560212, 22087237	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASCAT_DG	22057235		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASDB_DG	22057235		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	22496561		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	GWASCAT_DG	29531354		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	CTD_human_DG	29531354		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	23908464, 27322554, 31102422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	23603763, 26974007, 27992413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	20404132, 20724988, 20870899, 21082983, 22546852, 23045270, 27111338, 28484264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	26151821, 26621817, 27197191, 29917119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26319099, 26553438, 31706103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	26151821, 26621817, 27197191, 29917119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26553438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31706103	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	CTD_human_DG	21378990		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	23474010, 27430239, 30508957		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	CTD_human_DG	21378990		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASDB_DG	23202125, 24262325		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	23474010, 26982883, 27430239, 27744395, 28865245, 30508957		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	24725463	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	26343387, 29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease Autosomal Dominant 1	Coronary artery disease	Pubtator	22216278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	31428775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	23328882, 23474010, 27430239, 30508957		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	24262325		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	31110180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26891449, 28520980, 30110639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26891449, 28520980, 30110639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	26891449, 28520980, 36150053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	21270831, 21829393, 21873553, 25422107, 26405073, 28438156, 29018046, 33446885, 34858326, 36150053, 36622793, 38453145	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	19073967, 20546165, 21873553, 22932816, 23539116, 29018046		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	19430480, 21980299		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	19430480, 21829393, 29310926		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	30224649		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG	30224649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28526415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30254083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG	30224649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	21873553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG	30224649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	32778679	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	30333305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26621817		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	GWASCAT_DG	30093612		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial Neoplasms	GWASCAT_DG	26621817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	30093612	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	GWASCAT_DG	27197191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	19860791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	29088303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythrocytosis familial, 1	Erythrocytosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrocytosis familial, 1	Erythrocytosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential thrombocythemia	Thrombocythemia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Anemia	Fanconi Anemia	BEFREE	30254368		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	30254368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	23908464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	23263486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	25345847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	27322554	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	31706103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28484264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	28484264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	27430239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	29088303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19430479, 25231511, 26717315, 30624993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASDB_DG	22493691		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	GWASCAT_DG	22493691, 30595370		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	Pubtator	22493691	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immune System Diseases	Immune System Diseases	GWASDB_DG	21383967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	27459314	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	21856087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	29531354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	20647273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	CTD_human_DG	26457647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Autoimmune Diabetes	GWASCAT_DG	30254083		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia	Leukemia	Pubtator	19375649	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	23908464, 26974155, 27430239, 30005852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19375649, 32098966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	36123612	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Libman-Sacks Disease	Nonbacterial verrucal endocardiosis	CTD_human_DG	19838195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19838195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	CTD_human_DG	19838195		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoid leukemia	Lymphoid leukemia	BEFREE	30005852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26319099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	26621817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	26151821, 26621817, 27197191, 29917119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26319099, 31428775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24704825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26621817, 27995954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	26151821, 26621817, 27197191, 29917119		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31110180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	20508602		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplasia	Myelodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	31612018		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	19375649, 32098966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	27111338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	20404132, 20724988, 21723852, 22990499, 22991927, 23590807, 26660394, 27111338, 28484264, 28513614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	24056718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	19198610, 31799683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	19198610		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	24725463	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	23908464, 24704825, 28513614		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	26677855		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24704825		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	GWASCAT_DG	27197191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	GWASCAT_DG	27197191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	31070467, 34601942	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	31070467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Phlebitis and thrombophlebitis	Phlebitis And Thrombophlebitis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	27459314, 37967238	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	21990094, 27651169	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	22611155, 27111338	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	27991718, 28688466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	26974155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	23908464, 27322554, 30005852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GENOMICS_ENGLAND_DG	23908464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	22961000		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Myelofibrosis	Myelofibrosis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Myelofibrosis	Myelofibrosis	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Myelofibrosis	Myelofibrosis	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary sclerosing cholangitis	Sclerosing Cholangitis	GWASDB_DG	23603763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	26347073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	27197191		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19648290, 27744395		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	Pubtator	26051272	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	36958462, 40596960	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	GWASDB_DG	23297363		★★★★★ ★☆☆☆☆ Found in Text Mining only
THROMBOCYTHEMIA 1	Thrombocythemia	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	26450985, 27111338, 27991718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	ORPHANET_DG	21653328, 21825979		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocythemia, Essential	Thrombocythemia	BEFREE	27111338, 27991718		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocythemia, Essential	Thrombocythemia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytosis	Thrombocytosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytosis, Autosomal Dominant	Thrombocytosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	23844121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	22493691, 28382505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	22493691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular Diseases	BEFREE	22990499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	31420334	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	CTD_human_DG	22561518		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SH2B3 (SH2B adaptor protein 3)