EPAS1 (endothelial PAS domain protein 1)

Gene

• Entrez ID: 2034
• Gene name: Endothelial PAS domain protein 1
• Gene symbol: EPAS1
• Synonyms (NCBI Gene): ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73
• Chromosome: 2
• Chromosome location: 2p21
• Summary: This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853036	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs137853037	A>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006962	hsa-miR-185-5p	Luciferase reporter assay, qRT-PCR	22745131
MIRT006962	hsa-miR-185-5p	Luciferase reporter assay, qRT-PCR	22745131
MIRT053030	hsa-miR-145-5p	Luciferase reporter assay, qRT-PCR, Western blot	23222716
MIRT053030	hsa-miR-145-5p	Luciferase reporter assay, qRT-PCR, Western blot	23222716
MIRT438161	hsa-miR-17-5p	Luciferase reporter assay	24194900
MIRT438161	hsa-miR-17-5p	Luciferase reporter assay	24194900
MIRT438160	hsa-miR-20a-5p	Luciferase reporter assay	24194900
MIRT438160	hsa-miR-20a-5p	Luciferase reporter assay	24194900
MIRT438160	hsa-miR-20a-5p	Luciferase reporter assay	24194900
MIRT438161	hsa-miR-17-5p	Luciferase reporter assay	24194900
MIRT438161	hsa-miR-17-5p	Luciferase reporter assay	24194900
MIRT438160	hsa-miR-20a-5p	Luciferase reporter assay	24194900
MIRT438160	hsa-miR-20a-5p	Luciferase reporter assay	24194900
MIRT438160	hsa-miR-20a-5p	Luciferase reporter assay	24194900
MIRT500129	hsa-miR-7108-3p	PAR-CLIP	22012620
MIRT500128	hsa-miR-4758-3p	PAR-CLIP	22012620
MIRT500127	hsa-miR-6763-3p	PAR-CLIP	22012620
MIRT500129	hsa-miR-7108-3p	PAR-CLIP	24398324
MIRT500128	hsa-miR-4758-3p	PAR-CLIP	24398324
MIRT500127	hsa-miR-6763-3p	PAR-CLIP	24398324
MIRT735082	hsa-miR-455-3p	Luciferase reporter assay, Immunohistochemistry (IHC), qRT-PCR	34230481
MIRT735084	hsa-miR-455-5p	Luciferase reporter assay, Immunohistochemistry (IHC), qRT-PCR	34230481
MIRT500129	hsa-miR-7108-3p	PAR-CLIP	22012620
MIRT500128	hsa-miR-4758-3p	PAR-CLIP	22012620
MIRT500127	hsa-miR-6763-3p	PAR-CLIP	22012620
MIRT500129	hsa-miR-7108-3p	PAR-CLIP	24398324
MIRT500128	hsa-miR-4758-3p	PAR-CLIP	24398324
MIRT500127	hsa-miR-6763-3p	PAR-CLIP	24398324
MIRT965300	hsa-miR-106a	CLIP-seq
MIRT965301	hsa-miR-106b	CLIP-seq
MIRT965302	hsa-miR-1264	CLIP-seq
MIRT965303	hsa-miR-1271	CLIP-seq
MIRT965304	hsa-miR-129-5p	CLIP-seq
MIRT965305	hsa-miR-139-3p	CLIP-seq
MIRT965306	hsa-miR-142-5p	CLIP-seq
MIRT965307	hsa-miR-147	CLIP-seq
MIRT965308	hsa-miR-17	CLIP-seq
MIRT965309	hsa-miR-182	CLIP-seq
MIRT965310	hsa-miR-20a	CLIP-seq
MIRT965311	hsa-miR-20b	CLIP-seq
MIRT965312	hsa-miR-2113	CLIP-seq
MIRT965313	hsa-miR-218	CLIP-seq
MIRT965314	hsa-miR-2276	CLIP-seq
MIRT965315	hsa-miR-3121-3p	CLIP-seq
MIRT965316	hsa-miR-3136-3p	CLIP-seq
MIRT965317	hsa-miR-3148	CLIP-seq
MIRT965318	hsa-miR-3154	CLIP-seq
MIRT965319	hsa-miR-3156-5p	CLIP-seq
MIRT965320	hsa-miR-3194-3p	CLIP-seq
MIRT965321	hsa-miR-328	CLIP-seq
MIRT965322	hsa-miR-340	CLIP-seq
MIRT965323	hsa-miR-3591-3p	CLIP-seq
MIRT965324	hsa-miR-3609	CLIP-seq
MIRT965325	hsa-miR-3619-3p	CLIP-seq
MIRT965326	hsa-miR-365	CLIP-seq
MIRT965327	hsa-miR-3662	CLIP-seq
MIRT965328	hsa-miR-378	CLIP-seq
MIRT965329	hsa-miR-378b	CLIP-seq
MIRT965330	hsa-miR-378c	CLIP-seq
MIRT965331	hsa-miR-378d	CLIP-seq
MIRT965332	hsa-miR-378e	CLIP-seq
MIRT965333	hsa-miR-378f	CLIP-seq
MIRT965334	hsa-miR-378h	CLIP-seq
MIRT965335	hsa-miR-378i	CLIP-seq
MIRT965336	hsa-miR-3978	CLIP-seq
MIRT965337	hsa-miR-422a	CLIP-seq
MIRT965338	hsa-miR-4259	CLIP-seq
MIRT965339	hsa-miR-4276	CLIP-seq
MIRT965340	hsa-miR-4302	CLIP-seq
MIRT965341	hsa-miR-4419a	CLIP-seq
MIRT965342	hsa-miR-4453	CLIP-seq
MIRT965343	hsa-miR-4468	CLIP-seq
MIRT965344	hsa-miR-4496	CLIP-seq
MIRT965345	hsa-miR-4510	CLIP-seq
MIRT965346	hsa-miR-4527	CLIP-seq
MIRT965347	hsa-miR-4538	CLIP-seq
MIRT965348	hsa-miR-4638-3p	CLIP-seq
MIRT965349	hsa-miR-4668-5p	CLIP-seq
MIRT965350	hsa-miR-4698	CLIP-seq
MIRT965351	hsa-miR-4708-3p	CLIP-seq
MIRT965352	hsa-miR-4715-5p	CLIP-seq
MIRT965353	hsa-miR-4737	CLIP-seq
MIRT965354	hsa-miR-4773	CLIP-seq
MIRT965355	hsa-miR-4776-5p	CLIP-seq
MIRT965356	hsa-miR-4796-3p	CLIP-seq
MIRT965357	hsa-miR-488	CLIP-seq
MIRT965358	hsa-miR-501-3p	CLIP-seq
MIRT965359	hsa-miR-502-3p	CLIP-seq
MIRT965360	hsa-miR-519d	CLIP-seq
MIRT965361	hsa-miR-548a-3p	CLIP-seq
MIRT965362	hsa-miR-548ah	CLIP-seq
MIRT965363	hsa-miR-548e	CLIP-seq
MIRT965364	hsa-miR-548f	CLIP-seq
MIRT965365	hsa-miR-548p	CLIP-seq
MIRT965366	hsa-miR-561	CLIP-seq
MIRT965367	hsa-miR-582-5p	CLIP-seq
MIRT965368	hsa-miR-599	CLIP-seq
MIRT965369	hsa-miR-636	CLIP-seq
MIRT965370	hsa-miR-651	CLIP-seq
MIRT965371	hsa-miR-758	CLIP-seq
MIRT965372	hsa-miR-760	CLIP-seq
MIRT965373	hsa-miR-767-5p	CLIP-seq
MIRT965374	hsa-miR-93	CLIP-seq
MIRT965375	hsa-miR-938	CLIP-seq
MIRT965376	hsa-miR-96	CLIP-seq
MIRT1548353	hsa-miR-127-5p	CLIP-seq
MIRT1548354	hsa-miR-3177-5p	CLIP-seq
MIRT965326	hsa-miR-365	CLIP-seq
MIRT1548355	hsa-miR-3653	CLIP-seq
MIRT1548356	hsa-miR-3658	CLIP-seq
MIRT965327	hsa-miR-3662	CLIP-seq
MIRT1548357	hsa-miR-3942-3p	CLIP-seq
MIRT1548358	hsa-miR-4511	CLIP-seq
MIRT965354	hsa-miR-4773	CLIP-seq
MIRT1548359	hsa-miR-548b-3p	CLIP-seq
MIRT1548360	hsa-miR-548c-3p	CLIP-seq
MIRT1556308	hsa-miR-1246	CLIP-seq
MIRT1556309	hsa-miR-1261	CLIP-seq
MIRT1556310	hsa-miR-1273d	CLIP-seq
MIRT1556311	hsa-miR-185	CLIP-seq
MIRT1556312	hsa-miR-1912	CLIP-seq
MIRT965317	hsa-miR-3148	CLIP-seq
MIRT1556313	hsa-miR-4279	CLIP-seq
MIRT1556314	hsa-miR-4306	CLIP-seq
MIRT1556315	hsa-miR-4644	CLIP-seq
MIRT1556316	hsa-miR-4668-3p	CLIP-seq
MIRT1556317	hsa-miR-493	CLIP-seq
MIRT1556318	hsa-miR-513a-3p	CLIP-seq
MIRT1548360	hsa-miR-548c-3p	CLIP-seq
MIRT1556319	hsa-miR-616	CLIP-seq
MIRT1986059	hsa-miR-1301	CLIP-seq
MIRT965307	hsa-miR-147	CLIP-seq
MIRT1986060	hsa-miR-148a	CLIP-seq
MIRT1986061	hsa-miR-148b	CLIP-seq
MIRT1986062	hsa-miR-152	CLIP-seq
MIRT1986063	hsa-miR-1973	CLIP-seq
MIRT965326	hsa-miR-365	CLIP-seq
MIRT1986064	hsa-miR-3944-5p	CLIP-seq
MIRT1986065	hsa-miR-4452	CLIP-seq
MIRT1986066	hsa-miR-4517	CLIP-seq
MIRT1986067	hsa-miR-4660	CLIP-seq
MIRT1986068	hsa-miR-5047	CLIP-seq
MIRT1986069	hsa-miR-579	CLIP-seq
MIRT2220456	hsa-miR-105	CLIP-seq
MIRT965300	hsa-miR-106a	CLIP-seq
MIRT965301	hsa-miR-106b	CLIP-seq
MIRT2220457	hsa-miR-1468	CLIP-seq
MIRT1986060	hsa-miR-148a	CLIP-seq
MIRT1986061	hsa-miR-148b	CLIP-seq
MIRT1986062	hsa-miR-152	CLIP-seq
MIRT965308	hsa-miR-17	CLIP-seq
MIRT965310	hsa-miR-20a	CLIP-seq
MIRT965311	hsa-miR-20b	CLIP-seq
MIRT965312	hsa-miR-2113	CLIP-seq
MIRT2220458	hsa-miR-3123	CLIP-seq
MIRT965317	hsa-miR-3148	CLIP-seq
MIRT965319	hsa-miR-3156-5p	CLIP-seq
MIRT965323	hsa-miR-3591-3p	CLIP-seq
MIRT965324	hsa-miR-3609	CLIP-seq
MIRT2220459	hsa-miR-376c	CLIP-seq
MIRT2220460	hsa-miR-3925-5p	CLIP-seq
MIRT2220461	hsa-miR-3976	CLIP-seq
MIRT2220462	hsa-miR-4263	CLIP-seq
MIRT1986065	hsa-miR-4452	CLIP-seq
MIRT965342	hsa-miR-4453	CLIP-seq
MIRT965343	hsa-miR-4468	CLIP-seq
MIRT965347	hsa-miR-4538	CLIP-seq
MIRT1556316	hsa-miR-4668-3p	CLIP-seq
MIRT965349	hsa-miR-4668-5p	CLIP-seq
MIRT2220463	hsa-miR-4706	CLIP-seq
MIRT2220464	hsa-miR-4749-5p	CLIP-seq
MIRT965356	hsa-miR-4796-3p	CLIP-seq
MIRT965360	hsa-miR-519d	CLIP-seq
MIRT965362	hsa-miR-548ah	CLIP-seq
MIRT2220465	hsa-miR-576-5p	CLIP-seq
MIRT1986069	hsa-miR-579	CLIP-seq
MIRT2220466	hsa-miR-625	CLIP-seq
MIRT2220467	hsa-miR-660	CLIP-seq
MIRT2220468	hsa-miR-744	CLIP-seq
MIRT965371	hsa-miR-758	CLIP-seq
MIRT965374	hsa-miR-93	CLIP-seq
MIRT1986065	hsa-miR-4452	CLIP-seq
MIRT1986069	hsa-miR-579	CLIP-seq
MIRT965300	hsa-miR-106a	CLIP-seq
MIRT965301	hsa-miR-106b	CLIP-seq
MIRT2428533	hsa-miR-1184	CLIP-seq
MIRT2428534	hsa-miR-1205	CLIP-seq
MIRT1556308	hsa-miR-1246	CLIP-seq
MIRT2428535	hsa-miR-1253	CLIP-seq
MIRT1556309	hsa-miR-1261	CLIP-seq
MIRT1556310	hsa-miR-1273d	CLIP-seq
MIRT1548353	hsa-miR-127-5p	CLIP-seq
MIRT2428536	hsa-miR-1283	CLIP-seq
MIRT965304	hsa-miR-129-5p	CLIP-seq
MIRT965306	hsa-miR-142-5p	CLIP-seq
MIRT2220457	hsa-miR-1468	CLIP-seq
MIRT965307	hsa-miR-147	CLIP-seq
MIRT965308	hsa-miR-17	CLIP-seq
MIRT1556311	hsa-miR-185	CLIP-seq
MIRT1556312	hsa-miR-1912	CLIP-seq
MIRT2428537	hsa-miR-199a-3p	CLIP-seq
MIRT2428538	hsa-miR-199a-5p	CLIP-seq
MIRT2428539	hsa-miR-199b-3p	CLIP-seq
MIRT2428540	hsa-miR-199b-5p	CLIP-seq
MIRT965310	hsa-miR-20a	CLIP-seq
MIRT965311	hsa-miR-20b	CLIP-seq
MIRT2428541	hsa-miR-223	CLIP-seq
MIRT2428542	hsa-miR-27a	CLIP-seq
MIRT2428543	hsa-miR-27b	CLIP-seq
MIRT2428544	hsa-miR-2861	CLIP-seq
MIRT2428545	hsa-miR-296-3p	CLIP-seq
MIRT2428546	hsa-miR-3129-5p	CLIP-seq
MIRT965317	hsa-miR-3148	CLIP-seq
MIRT2428547	hsa-miR-3150a-3p	CLIP-seq
MIRT2428548	hsa-miR-3157-5p	CLIP-seq
MIRT2428549	hsa-miR-3158-5p	CLIP-seq
MIRT2428550	hsa-miR-3173-3p	CLIP-seq
MIRT2428551	hsa-miR-3175	CLIP-seq
MIRT1548354	hsa-miR-3177-5p	CLIP-seq
MIRT2428552	hsa-miR-3198	CLIP-seq
MIRT2428553	hsa-miR-338-5p	CLIP-seq
MIRT965322	hsa-miR-340	CLIP-seq
MIRT965324	hsa-miR-3609	CLIP-seq
MIRT1548355	hsa-miR-3653	CLIP-seq
MIRT2428554	hsa-miR-3654	CLIP-seq
MIRT1548356	hsa-miR-3658	CLIP-seq
MIRT2428555	hsa-miR-3673	CLIP-seq
MIRT2428556	hsa-miR-369-3p	CLIP-seq
MIRT2428557	hsa-miR-374a	CLIP-seq
MIRT2428558	hsa-miR-374b	CLIP-seq
MIRT2428559	hsa-miR-3918	CLIP-seq
MIRT1548357	hsa-miR-3942-3p	CLIP-seq
MIRT2428560	hsa-miR-3973	CLIP-seq
MIRT2428561	hsa-miR-409-3p	CLIP-seq
MIRT2428562	hsa-miR-4252	CLIP-seq
MIRT2220462	hsa-miR-4263	CLIP-seq
MIRT965339	hsa-miR-4276	CLIP-seq
MIRT2428563	hsa-miR-4282	CLIP-seq
MIRT2428564	hsa-miR-4300	CLIP-seq
MIRT965340	hsa-miR-4302	CLIP-seq
MIRT1556314	hsa-miR-4306	CLIP-seq
MIRT2428565	hsa-miR-4309	CLIP-seq
MIRT2428566	hsa-miR-4330	CLIP-seq
MIRT965341	hsa-miR-4419a	CLIP-seq
MIRT2428567	hsa-miR-4428	CLIP-seq
MIRT2428568	hsa-miR-4434	CLIP-seq
MIRT2428569	hsa-miR-4438	CLIP-seq
MIRT965342	hsa-miR-4453	CLIP-seq
MIRT2428570	hsa-miR-4474-3p	CLIP-seq
MIRT965345	hsa-miR-4510	CLIP-seq
MIRT1548358	hsa-miR-4511	CLIP-seq
MIRT2428571	hsa-miR-4512	CLIP-seq
MIRT2428572	hsa-miR-4516	CLIP-seq
MIRT1986066	hsa-miR-4517	CLIP-seq
MIRT2428573	hsa-miR-4520a-3p	CLIP-seq
MIRT965347	hsa-miR-4538	CLIP-seq
MIRT965348	hsa-miR-4638-3p	CLIP-seq
MIRT1556315	hsa-miR-4644	CLIP-seq
MIRT2428574	hsa-miR-4653-3p	CLIP-seq
MIRT1556316	hsa-miR-4668-3p	CLIP-seq
MIRT2428575	hsa-miR-4685-5p	CLIP-seq
MIRT2428576	hsa-miR-4691-3p	CLIP-seq
MIRT2428577	hsa-miR-4697-3p	CLIP-seq
MIRT965350	hsa-miR-4698	CLIP-seq
MIRT2428578	hsa-miR-4717-5p	CLIP-seq
MIRT2428579	hsa-miR-4725-5p	CLIP-seq
MIRT2428580	hsa-miR-4753-5p	CLIP-seq
MIRT2428581	hsa-miR-4760-5p	CLIP-seq
MIRT965354	hsa-miR-4773	CLIP-seq
MIRT2428582	hsa-miR-4779	CLIP-seq
MIRT965356	hsa-miR-4796-3p	CLIP-seq
MIRT965357	hsa-miR-488	CLIP-seq
MIRT2428583	hsa-miR-491-5p	CLIP-seq
MIRT1556317	hsa-miR-493	CLIP-seq
MIRT965358	hsa-miR-501-3p	CLIP-seq
MIRT965359	hsa-miR-502-3p	CLIP-seq
MIRT2428584	hsa-miR-504	CLIP-seq
MIRT2428585	hsa-miR-5095	CLIP-seq
MIRT1556318	hsa-miR-513a-3p	CLIP-seq
MIRT2428586	hsa-miR-513a-5p	CLIP-seq
MIRT965360	hsa-miR-519d	CLIP-seq
MIRT2428587	hsa-miR-520d-5p	CLIP-seq
MIRT2428588	hsa-miR-524-5p	CLIP-seq
MIRT965362	hsa-miR-548ah	CLIP-seq
MIRT1548359	hsa-miR-548b-3p	CLIP-seq
MIRT1548360	hsa-miR-548c-3p	CLIP-seq
MIRT2428589	hsa-miR-548k	CLIP-seq
MIRT2428590	hsa-miR-551a	CLIP-seq
MIRT2428591	hsa-miR-551b	CLIP-seq
MIRT965366	hsa-miR-561	CLIP-seq
MIRT2220465	hsa-miR-576-5p	CLIP-seq
MIRT965367	hsa-miR-582-5p	CLIP-seq
MIRT2220467	hsa-miR-660	CLIP-seq
MIRT965373	hsa-miR-767-5p	CLIP-seq
MIRT2428592	hsa-miR-769-5p	CLIP-seq
MIRT2428593	hsa-miR-889	CLIP-seq
MIRT2428594	hsa-miR-920	CLIP-seq
MIRT965374	hsa-miR-93	CLIP-seq
MIRT2428595	hsa-miR-936	CLIP-seq
MIRT2428596	hsa-miR-939	CLIP-seq
MIRT2436965	hsa-miR-10a	CLIP-seq
MIRT2436966	hsa-miR-10b	CLIP-seq
MIRT2428533	hsa-miR-1184	CLIP-seq
MIRT2428534	hsa-miR-1205	CLIP-seq
MIRT2436967	hsa-miR-1228	CLIP-seq
MIRT2436968	hsa-miR-1245b-5p	CLIP-seq
MIRT2436969	hsa-miR-1247	CLIP-seq
MIRT2436970	hsa-miR-128	CLIP-seq
MIRT1986059	hsa-miR-1301	CLIP-seq
MIRT2436971	hsa-miR-1321	CLIP-seq
MIRT965307	hsa-miR-147	CLIP-seq
MIRT2436972	hsa-miR-149	CLIP-seq
MIRT2436973	hsa-miR-183	CLIP-seq
MIRT2436974	hsa-miR-1909	CLIP-seq
MIRT1556312	hsa-miR-1912	CLIP-seq
MIRT1986063	hsa-miR-1973	CLIP-seq
MIRT2436975	hsa-miR-219-5p	CLIP-seq
MIRT2428544	hsa-miR-2861	CLIP-seq
MIRT2436976	hsa-miR-3064-5p	CLIP-seq
MIRT2436977	hsa-miR-3126-3p	CLIP-seq
MIRT2436978	hsa-miR-3142	CLIP-seq
MIRT2436979	hsa-miR-3151	CLIP-seq
MIRT2428548	hsa-miR-3157-5p	CLIP-seq
MIRT2428549	hsa-miR-3158-5p	CLIP-seq
MIRT2436980	hsa-miR-3168	CLIP-seq
MIRT2436981	hsa-miR-3612	CLIP-seq
MIRT965325	hsa-miR-3619-3p	CLIP-seq
MIRT2436982	hsa-miR-3620	CLIP-seq
MIRT965326	hsa-miR-365	CLIP-seq
MIRT2428554	hsa-miR-3654	CLIP-seq
MIRT2436983	hsa-miR-3663-5p	CLIP-seq
MIRT2436984	hsa-miR-3678-5p	CLIP-seq
MIRT2436985	hsa-miR-3692	CLIP-seq
MIRT965328	hsa-miR-378	CLIP-seq
MIRT965329	hsa-miR-378b	CLIP-seq
MIRT965330	hsa-miR-378c	CLIP-seq
MIRT965331	hsa-miR-378d	CLIP-seq
MIRT965332	hsa-miR-378e	CLIP-seq
MIRT965333	hsa-miR-378f	CLIP-seq
MIRT965334	hsa-miR-378h	CLIP-seq
MIRT965335	hsa-miR-378i	CLIP-seq
MIRT2436986	hsa-miR-3911	CLIP-seq
MIRT2428559	hsa-miR-3918	CLIP-seq
MIRT1986064	hsa-miR-3944-5p	CLIP-seq
MIRT965337	hsa-miR-422a	CLIP-seq
MIRT2436987	hsa-miR-423-3p	CLIP-seq
MIRT2436988	hsa-miR-4254	CLIP-seq
MIRT2436989	hsa-miR-4292	CLIP-seq
MIRT2436990	hsa-miR-4297	CLIP-seq
MIRT2428564	hsa-miR-4300	CLIP-seq
MIRT2436991	hsa-miR-4308	CLIP-seq
MIRT965341	hsa-miR-4419a	CLIP-seq
MIRT2428569	hsa-miR-4438	CLIP-seq
MIRT2436992	hsa-miR-4443	CLIP-seq
MIRT2436993	hsa-miR-4446-3p	CLIP-seq
MIRT2436994	hsa-miR-4447	CLIP-seq
MIRT1986065	hsa-miR-4452	CLIP-seq
MIRT2436995	hsa-miR-4470	CLIP-seq
MIRT2436996	hsa-miR-4472	CLIP-seq
MIRT2428570	hsa-miR-4474-3p	CLIP-seq
MIRT2436997	hsa-miR-4481	CLIP-seq
MIRT2436998	hsa-miR-4488	CLIP-seq
MIRT2436999	hsa-miR-4492	CLIP-seq
MIRT2437000	hsa-miR-4498	CLIP-seq
MIRT965345	hsa-miR-4510	CLIP-seq
MIRT2428571	hsa-miR-4512	CLIP-seq
MIRT965346	hsa-miR-4527	CLIP-seq
MIRT2437001	hsa-miR-4529-5p	CLIP-seq
MIRT965348	hsa-miR-4638-3p	CLIP-seq
MIRT1986067	hsa-miR-4660	CLIP-seq
MIRT2437002	hsa-miR-4669	CLIP-seq
MIRT2428575	hsa-miR-4685-5p	CLIP-seq
MIRT2437003	hsa-miR-4688	CLIP-seq
MIRT2428576	hsa-miR-4691-3p	CLIP-seq
MIRT2437004	hsa-miR-4697-5p	CLIP-seq
MIRT2220463	hsa-miR-4706	CLIP-seq
MIRT2437005	hsa-miR-4715-3p	CLIP-seq
MIRT2437006	hsa-miR-4739	CLIP-seq
MIRT2437007	hsa-miR-4745-5p	CLIP-seq
MIRT2220464	hsa-miR-4749-5p	CLIP-seq
MIRT2437008	hsa-miR-4756-5p	CLIP-seq
MIRT2437009	hsa-miR-4758-5p	CLIP-seq
MIRT965355	hsa-miR-4776-5p	CLIP-seq
MIRT2437010	hsa-miR-4782-3p	CLIP-seq
MIRT2437011	hsa-miR-4794	CLIP-seq
MIRT2428583	hsa-miR-491-5p	CLIP-seq
MIRT1986068	hsa-miR-5047	CLIP-seq
MIRT2428585	hsa-miR-5095	CLIP-seq
MIRT2428590	hsa-miR-551a	CLIP-seq
MIRT2428591	hsa-miR-551b	CLIP-seq
MIRT1986069	hsa-miR-579	CLIP-seq
MIRT2437012	hsa-miR-604	CLIP-seq
MIRT2437013	hsa-miR-644	CLIP-seq
MIRT2437014	hsa-miR-647	CLIP-seq
MIRT2437015	hsa-miR-650	CLIP-seq
MIRT2220468	hsa-miR-744	CLIP-seq
MIRT2437016	hsa-miR-762	CLIP-seq
MIRT2428592	hsa-miR-769-5p	CLIP-seq
MIRT2428594	hsa-miR-920	CLIP-seq
MIRT2436968	hsa-miR-1245b-5p	CLIP-seq
MIRT2436978	hsa-miR-3142	CLIP-seq
MIRT2436965	hsa-miR-10a	CLIP-seq
MIRT2436966	hsa-miR-10b	CLIP-seq
MIRT2428533	hsa-miR-1184	CLIP-seq
MIRT2428534	hsa-miR-1205	CLIP-seq
MIRT2436967	hsa-miR-1228	CLIP-seq
MIRT2436968	hsa-miR-1245b-5p	CLIP-seq
MIRT2436969	hsa-miR-1247	CLIP-seq
MIRT965302	hsa-miR-1264	CLIP-seq
MIRT965303	hsa-miR-1271	CLIP-seq
MIRT1548353	hsa-miR-127-5p	CLIP-seq
MIRT2436970	hsa-miR-128	CLIP-seq
MIRT965304	hsa-miR-129-5p	CLIP-seq
MIRT2524250	hsa-miR-1299	CLIP-seq
MIRT1986059	hsa-miR-1301	CLIP-seq
MIRT2436971	hsa-miR-1321	CLIP-seq
MIRT965307	hsa-miR-147	CLIP-seq
MIRT1986060	hsa-miR-148a	CLIP-seq
MIRT1986061	hsa-miR-148b	CLIP-seq
MIRT2436972	hsa-miR-149	CLIP-seq
MIRT1986062	hsa-miR-152	CLIP-seq
MIRT965309	hsa-miR-182	CLIP-seq
MIRT2436973	hsa-miR-183	CLIP-seq
MIRT2436974	hsa-miR-1909	CLIP-seq
MIRT2524251	hsa-miR-1910	CLIP-seq
MIRT1556312	hsa-miR-1912	CLIP-seq
MIRT1986063	hsa-miR-1973	CLIP-seq
MIRT2436975	hsa-miR-219-5p	CLIP-seq
MIRT965314	hsa-miR-2276	CLIP-seq
MIRT2524252	hsa-miR-2278	CLIP-seq
MIRT2524253	hsa-miR-23a	CLIP-seq
MIRT2524254	hsa-miR-23b	CLIP-seq
MIRT2524255	hsa-miR-23c	CLIP-seq
MIRT2428544	hsa-miR-2861	CLIP-seq
MIRT2428545	hsa-miR-296-3p	CLIP-seq
MIRT2436976	hsa-miR-3064-5p	CLIP-seq
MIRT2524256	hsa-miR-3065-5p	CLIP-seq
MIRT2436977	hsa-miR-3126-3p	CLIP-seq
MIRT2436978	hsa-miR-3142	CLIP-seq
MIRT2436979	hsa-miR-3151	CLIP-seq
MIRT2428548	hsa-miR-3157-5p	CLIP-seq
MIRT2428549	hsa-miR-3158-5p	CLIP-seq
MIRT2436980	hsa-miR-3168	CLIP-seq
MIRT2524257	hsa-miR-3179	CLIP-seq
MIRT965323	hsa-miR-3591-3p	CLIP-seq
MIRT2436981	hsa-miR-3612	CLIP-seq
MIRT965325	hsa-miR-3619-3p	CLIP-seq
MIRT2436982	hsa-miR-3620	CLIP-seq
MIRT965326	hsa-miR-365	CLIP-seq
MIRT1548355	hsa-miR-3653	CLIP-seq
MIRT2428554	hsa-miR-3654	CLIP-seq
MIRT1548356	hsa-miR-3658	CLIP-seq
MIRT965327	hsa-miR-3662	CLIP-seq
MIRT2436983	hsa-miR-3663-5p	CLIP-seq
MIRT2428555	hsa-miR-3673	CLIP-seq
MIRT2436984	hsa-miR-3678-5p	CLIP-seq
MIRT2436985	hsa-miR-3692	CLIP-seq
MIRT2524258	hsa-miR-376a	CLIP-seq
MIRT2524259	hsa-miR-376b	CLIP-seq
MIRT965328	hsa-miR-378	CLIP-seq
MIRT965329	hsa-miR-378b	CLIP-seq
MIRT965330	hsa-miR-378c	CLIP-seq
MIRT965331	hsa-miR-378d	CLIP-seq
MIRT965332	hsa-miR-378e	CLIP-seq
MIRT965333	hsa-miR-378f	CLIP-seq
MIRT965334	hsa-miR-378h	CLIP-seq
MIRT965335	hsa-miR-378i	CLIP-seq
MIRT2436986	hsa-miR-3911	CLIP-seq
MIRT2428559	hsa-miR-3918	CLIP-seq
MIRT1986064	hsa-miR-3944-5p	CLIP-seq
MIRT965337	hsa-miR-422a	CLIP-seq
MIRT2436987	hsa-miR-423-3p	CLIP-seq
MIRT2436988	hsa-miR-4254	CLIP-seq
MIRT2524260	hsa-miR-4264	CLIP-seq
MIRT965339	hsa-miR-4276	CLIP-seq
MIRT2436989	hsa-miR-4292	CLIP-seq
MIRT2436990	hsa-miR-4297	CLIP-seq
MIRT2428564	hsa-miR-4300	CLIP-seq
MIRT965340	hsa-miR-4302	CLIP-seq
MIRT2436991	hsa-miR-4308	CLIP-seq
MIRT2524261	hsa-miR-4325	CLIP-seq
MIRT965341	hsa-miR-4419a	CLIP-seq
MIRT2428569	hsa-miR-4438	CLIP-seq
MIRT2436992	hsa-miR-4443	CLIP-seq
MIRT2436993	hsa-miR-4446-3p	CLIP-seq
MIRT2436994	hsa-miR-4447	CLIP-seq
MIRT1986065	hsa-miR-4452	CLIP-seq
MIRT965342	hsa-miR-4453	CLIP-seq
MIRT2436995	hsa-miR-4470	CLIP-seq
MIRT2436996	hsa-miR-4472	CLIP-seq
MIRT2428570	hsa-miR-4474-3p	CLIP-seq
MIRT2436997	hsa-miR-4481	CLIP-seq
MIRT2436998	hsa-miR-4488	CLIP-seq
MIRT2436999	hsa-miR-4492	CLIP-seq
MIRT2437000	hsa-miR-4498	CLIP-seq
MIRT965345	hsa-miR-4510	CLIP-seq
MIRT2428571	hsa-miR-4512	CLIP-seq
MIRT1986066	hsa-miR-4517	CLIP-seq
MIRT2428573	hsa-miR-4520a-3p	CLIP-seq
MIRT2524262	hsa-miR-4521	CLIP-seq
MIRT965346	hsa-miR-4527	CLIP-seq
MIRT2437001	hsa-miR-4529-5p	CLIP-seq
MIRT965347	hsa-miR-4538	CLIP-seq
MIRT2524263	hsa-miR-4635	CLIP-seq
MIRT965348	hsa-miR-4638-3p	CLIP-seq
MIRT1986067	hsa-miR-4660	CLIP-seq
MIRT2437002	hsa-miR-4669	CLIP-seq
MIRT2428575	hsa-miR-4685-5p	CLIP-seq
MIRT2437003	hsa-miR-4688	CLIP-seq
MIRT2428576	hsa-miR-4691-3p	CLIP-seq
MIRT2437004	hsa-miR-4697-5p	CLIP-seq
MIRT2220463	hsa-miR-4706	CLIP-seq
MIRT965351	hsa-miR-4708-3p	CLIP-seq
MIRT2437005	hsa-miR-4715-3p	CLIP-seq
MIRT2428579	hsa-miR-4725-5p	CLIP-seq
MIRT2437006	hsa-miR-4739	CLIP-seq
MIRT2437007	hsa-miR-4745-5p	CLIP-seq
MIRT2220464	hsa-miR-4749-5p	CLIP-seq
MIRT2437008	hsa-miR-4756-5p	CLIP-seq
MIRT2437009	hsa-miR-4758-5p	CLIP-seq
MIRT965355	hsa-miR-4776-5p	CLIP-seq
MIRT2437010	hsa-miR-4782-3p	CLIP-seq
MIRT2524264	hsa-miR-4782-5p	CLIP-seq
MIRT2437011	hsa-miR-4794	CLIP-seq
MIRT965357	hsa-miR-488	CLIP-seq
MIRT2428583	hsa-miR-491-5p	CLIP-seq
MIRT965358	hsa-miR-501-3p	CLIP-seq
MIRT965359	hsa-miR-502-3p	CLIP-seq
MIRT2428584	hsa-miR-504	CLIP-seq
MIRT1986068	hsa-miR-5047	CLIP-seq
MIRT2428585	hsa-miR-5095	CLIP-seq
MIRT1556318	hsa-miR-513a-3p	CLIP-seq
MIRT2524265	hsa-miR-516b	CLIP-seq
MIRT965361	hsa-miR-548a-3p	CLIP-seq
MIRT965363	hsa-miR-548e	CLIP-seq
MIRT965364	hsa-miR-548f	CLIP-seq
MIRT2428590	hsa-miR-551a	CLIP-seq
MIRT2428591	hsa-miR-551b	CLIP-seq
MIRT1986069	hsa-miR-579	CLIP-seq
MIRT2437012	hsa-miR-604	CLIP-seq
MIRT2524266	hsa-miR-621	CLIP-seq
MIRT2437013	hsa-miR-644	CLIP-seq
MIRT2437014	hsa-miR-647	CLIP-seq
MIRT2437015	hsa-miR-650	CLIP-seq
MIRT2220468	hsa-miR-744	CLIP-seq
MIRT2437016	hsa-miR-762	CLIP-seq
MIRT965373	hsa-miR-767-5p	CLIP-seq
MIRT2428592	hsa-miR-769-5p	CLIP-seq
MIRT2524267	hsa-miR-875-3p	CLIP-seq
MIRT2428593	hsa-miR-889	CLIP-seq
MIRT2428594	hsa-miR-920	CLIP-seq
MIRT965376	hsa-miR-96	CLIP-seq
MIRT2436965	hsa-miR-10a	CLIP-seq
MIRT2436966	hsa-miR-10b	CLIP-seq
MIRT2428533	hsa-miR-1184	CLIP-seq
MIRT2428534	hsa-miR-1205	CLIP-seq
MIRT2436967	hsa-miR-1228	CLIP-seq
MIRT2436968	hsa-miR-1245b-5p	CLIP-seq
MIRT2436969	hsa-miR-1247	CLIP-seq
MIRT965302	hsa-miR-1264	CLIP-seq
MIRT965303	hsa-miR-1271	CLIP-seq
MIRT1548353	hsa-miR-127-5p	CLIP-seq
MIRT2436970	hsa-miR-128	CLIP-seq
MIRT965304	hsa-miR-129-5p	CLIP-seq
MIRT2524250	hsa-miR-1299	CLIP-seq
MIRT1986059	hsa-miR-1301	CLIP-seq
MIRT2436971	hsa-miR-1321	CLIP-seq
MIRT965307	hsa-miR-147	CLIP-seq
MIRT1986060	hsa-miR-148a	CLIP-seq
MIRT1986061	hsa-miR-148b	CLIP-seq
MIRT2436972	hsa-miR-149	CLIP-seq
MIRT1986062	hsa-miR-152	CLIP-seq
MIRT965309	hsa-miR-182	CLIP-seq
MIRT2436973	hsa-miR-183	CLIP-seq
MIRT2436974	hsa-miR-1909	CLIP-seq
MIRT2524251	hsa-miR-1910	CLIP-seq
MIRT1556312	hsa-miR-1912	CLIP-seq
MIRT1986063	hsa-miR-1973	CLIP-seq
MIRT2436975	hsa-miR-219-5p	CLIP-seq
MIRT965314	hsa-miR-2276	CLIP-seq
MIRT2428544	hsa-miR-2861	CLIP-seq
MIRT2428545	hsa-miR-296-3p	CLIP-seq
MIRT2436976	hsa-miR-3064-5p	CLIP-seq
MIRT2524256	hsa-miR-3065-5p	CLIP-seq
MIRT2436977	hsa-miR-3126-3p	CLIP-seq
MIRT2436978	hsa-miR-3142	CLIP-seq
MIRT2436979	hsa-miR-3151	CLIP-seq
MIRT2428548	hsa-miR-3157-5p	CLIP-seq
MIRT2428549	hsa-miR-3158-5p	CLIP-seq
MIRT2436980	hsa-miR-3168	CLIP-seq
MIRT2524257	hsa-miR-3179	CLIP-seq
MIRT965323	hsa-miR-3591-3p	CLIP-seq
MIRT2436981	hsa-miR-3612	CLIP-seq
MIRT965325	hsa-miR-3619-3p	CLIP-seq
MIRT2436982	hsa-miR-3620	CLIP-seq
MIRT965326	hsa-miR-365	CLIP-seq
MIRT1548355	hsa-miR-3653	CLIP-seq
MIRT2428554	hsa-miR-3654	CLIP-seq
MIRT1548356	hsa-miR-3658	CLIP-seq
MIRT965327	hsa-miR-3662	CLIP-seq
MIRT2436983	hsa-miR-3663-5p	CLIP-seq
MIRT2428555	hsa-miR-3673	CLIP-seq
MIRT2436984	hsa-miR-3678-5p	CLIP-seq
MIRT2436985	hsa-miR-3692	CLIP-seq
MIRT2524258	hsa-miR-376a	CLIP-seq
MIRT2524259	hsa-miR-376b	CLIP-seq
MIRT965328	hsa-miR-378	CLIP-seq
MIRT965329	hsa-miR-378b	CLIP-seq
MIRT965330	hsa-miR-378c	CLIP-seq
MIRT965331	hsa-miR-378d	CLIP-seq
MIRT965332	hsa-miR-378e	CLIP-seq
MIRT965333	hsa-miR-378f	CLIP-seq
MIRT965334	hsa-miR-378h	CLIP-seq
MIRT965335	hsa-miR-378i	CLIP-seq
MIRT2436986	hsa-miR-3911	CLIP-seq
MIRT2428559	hsa-miR-3918	CLIP-seq
MIRT1986064	hsa-miR-3944-5p	CLIP-seq
MIRT965337	hsa-miR-422a	CLIP-seq
MIRT2436987	hsa-miR-423-3p	CLIP-seq
MIRT2436988	hsa-miR-4254	CLIP-seq
MIRT2524260	hsa-miR-4264	CLIP-seq
MIRT965339	hsa-miR-4276	CLIP-seq
MIRT2436989	hsa-miR-4292	CLIP-seq
MIRT2436990	hsa-miR-4297	CLIP-seq
MIRT2428564	hsa-miR-4300	CLIP-seq
MIRT965340	hsa-miR-4302	CLIP-seq
MIRT2436991	hsa-miR-4308	CLIP-seq
MIRT2524261	hsa-miR-4325	CLIP-seq
MIRT965341	hsa-miR-4419a	CLIP-seq
MIRT2428569	hsa-miR-4438	CLIP-seq
MIRT2436992	hsa-miR-4443	CLIP-seq
MIRT2436993	hsa-miR-4446-3p	CLIP-seq
MIRT2436994	hsa-miR-4447	CLIP-seq
MIRT1986065	hsa-miR-4452	CLIP-seq
MIRT965342	hsa-miR-4453	CLIP-seq
MIRT2436995	hsa-miR-4470	CLIP-seq
MIRT2436996	hsa-miR-4472	CLIP-seq
MIRT2428570	hsa-miR-4474-3p	CLIP-seq
MIRT2436997	hsa-miR-4481	CLIP-seq
MIRT2436998	hsa-miR-4488	CLIP-seq
MIRT2436999	hsa-miR-4492	CLIP-seq
MIRT2437000	hsa-miR-4498	CLIP-seq
MIRT965345	hsa-miR-4510	CLIP-seq
MIRT2428571	hsa-miR-4512	CLIP-seq
MIRT1986066	hsa-miR-4517	CLIP-seq
MIRT2524262	hsa-miR-4521	CLIP-seq
MIRT965346	hsa-miR-4527	CLIP-seq
MIRT2437001	hsa-miR-4529-5p	CLIP-seq
MIRT965347	hsa-miR-4538	CLIP-seq
MIRT2524263	hsa-miR-4635	CLIP-seq
MIRT965348	hsa-miR-4638-3p	CLIP-seq
MIRT1986067	hsa-miR-4660	CLIP-seq
MIRT2437002	hsa-miR-4669	CLIP-seq
MIRT2428575	hsa-miR-4685-5p	CLIP-seq
MIRT2437003	hsa-miR-4688	CLIP-seq
MIRT2428576	hsa-miR-4691-3p	CLIP-seq
MIRT2437004	hsa-miR-4697-5p	CLIP-seq
MIRT2220463	hsa-miR-4706	CLIP-seq
MIRT965351	hsa-miR-4708-3p	CLIP-seq
MIRT2437005	hsa-miR-4715-3p	CLIP-seq
MIRT2437006	hsa-miR-4739	CLIP-seq
MIRT2437007	hsa-miR-4745-5p	CLIP-seq
MIRT2220464	hsa-miR-4749-5p	CLIP-seq
MIRT2437008	hsa-miR-4756-5p	CLIP-seq
MIRT2437009	hsa-miR-4758-5p	CLIP-seq
MIRT965355	hsa-miR-4776-5p	CLIP-seq
MIRT2437010	hsa-miR-4782-3p	CLIP-seq
MIRT2524264	hsa-miR-4782-5p	CLIP-seq
MIRT2437011	hsa-miR-4794	CLIP-seq
MIRT965357	hsa-miR-488	CLIP-seq
MIRT2428583	hsa-miR-491-5p	CLIP-seq
MIRT1986068	hsa-miR-5047	CLIP-seq
MIRT2428585	hsa-miR-5095	CLIP-seq
MIRT1556318	hsa-miR-513a-3p	CLIP-seq
MIRT2524265	hsa-miR-516b	CLIP-seq
MIRT965361	hsa-miR-548a-3p	CLIP-seq
MIRT965363	hsa-miR-548e	CLIP-seq
MIRT965364	hsa-miR-548f	CLIP-seq
MIRT2428590	hsa-miR-551a	CLIP-seq
MIRT2428591	hsa-miR-551b	CLIP-seq
MIRT1986069	hsa-miR-579	CLIP-seq
MIRT2437012	hsa-miR-604	CLIP-seq
MIRT2524266	hsa-miR-621	CLIP-seq
MIRT2437013	hsa-miR-644	CLIP-seq
MIRT2437014	hsa-miR-647	CLIP-seq
MIRT2437015	hsa-miR-650	CLIP-seq
MIRT2220468	hsa-miR-744	CLIP-seq
MIRT2437016	hsa-miR-762	CLIP-seq
MIRT2428592	hsa-miR-769-5p	CLIP-seq
MIRT2524267	hsa-miR-875-3p	CLIP-seq
MIRT2428593	hsa-miR-889	CLIP-seq
MIRT2428594	hsa-miR-920	CLIP-seq
MIRT965376	hsa-miR-96	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIF3A	Unknown	19755485
HOXA1	Unknown	17213808
RELA	Activation	20495570
STAT3	Unknown	23991099
USF2	Unknown	23991099
YY1	Repression	19483472

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001223	Function	Transcription coactivator binding	IEA
GO:0001223	Function	Transcription coactivator binding	IPI	15261140
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001525	Process	Angiogenesis	IBA
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001666	Process	Response to hypoxia	IDA	11782478
GO:0001666	Process	Response to hypoxia	IEA
GO:0001892	Process	Embryonic placenta development	IEA
GO:0001974	Process	Blood vessel remodeling	IBA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0002027	Process	Regulation of heart rate	IEA
GO:0002070	Process	Epithelial cell maturation	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	11018023, 14668441, 16181639, 17024177, 17324924, 17353276, 17418410, 18000879, 19129502, 19208626, 22678294, 23401859, 23434853, 24378640, 24981860, 25043030, 30487161, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005667	Component	Transcription regulator complex	IDA	9000051
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	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	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007165	Process	Signal transduction	TAS	9079689
GO:0007601	Process	Visual perception	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0030097	Process	Hemopoiesis	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	IBA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030324	Process	Lung development	IBA
GO:0030324	Process	Lung development	IEA
GO:0032364	Process	Intracellular oxygen homeostasis	IBA
GO:0042415	Process	Norepinephrine metabolic process	IEA
GO:0042789	Process	MRNA transcription by RNA polymerase II	IEA
GO:0043129	Process	Surfactant homeostasis	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	9079689
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11573933
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	16181639
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	9079689
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048625	Process	Myoblast fate commitment	IEA
GO:0048625	Process	Myoblast fate commitment	ISS
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	9079689
GO:0071456	Process	Cellular response to hypoxia	IBA
GO:0071456	Process	Cellular response to hypoxia	IDA	11573933
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	26572826
GO:2000434	Process	Regulation of protein neddylation	IEA
GO:2000434	Process	Regulation of protein neddylation	IMP	23401859

Other IDs

• MIM: 603349
• HGNC: 3374
• e!Ensembl: ENSG00000116016

Protein

• UniProt ID: Q99814
• Protein name: Endothelial PAS domain-containing protein 1 (EPAS-1) (Basic-helix-loop-helix-PAS protein MOP2) (Class E basic helix-loop-helix protein 73) (bHLHe73) (HIF-1-alpha-like factor) (HLF) (Hypoxia-inducible factor 2-alpha) (HIF-2-alpha) (HIF2-alpha) (Member of P
• Protein function: Transcription factor involved in the induction of oxygen regulated genes. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Regulate
• PDB: 1P97, 2A24, 3F1N, 3F1O, 3F1P, 3H7W, 3H82, 4GHI, 4GS9, 4PKY, 4XT2, 5KIZ, 5TBM, 5UFP, 6BVB, 6CZW, 6D09, 6D0B, 6D0C, 6I7Q, 6I7R, 6X21, 6X28, 6X2H, 6X37, 6X3D, 7Q5V, 7Q5X, 7UJV, 8CK3, 8CK4, 8CK8, 8Q5S, 8Q64, 8Q6D, 8Q6E, 8RUT, 8RUV, 8RUZ, 8RV1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00989	PAS	85 → 183	PAS fold	Domain
  PF08447	PAS_3	254 → 341	PAS fold	Domain
  PF11413	HIF-1	517 → 549	Hypoxia-inducible factor-1	Family
  PF08778	HIF-1a_CTAD	833 → 869	HIF-1 alpha C terminal transactivation domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in most tissues, with highest levels in placenta, lung and heart. Selectively expressed in endothelial cells.
• Sequence:

  MTADKEKKRSSSERRKEKSRDAARCRRSKETEVFYELAHELPLPHSVSSHLDKASIMRLA
  ISFLRTHKLLSSVCSENESEAEADQQMDNLYLKALEGFIAVVTQDGDMIFLSENISKFMG
  LTQVELTGHSIFDFTHPCDHEEIRENLSLKNGSGFGKKSKDMSTERDFFMRMKCTVTNRG
  RTVNLKSATWKVLHCTGQVKVYNNCPPHNSLCGYKEPLLSCLIIMCEPIQHPSHMDIPLD
  SKTFLSRHSMDMKFTYCDDRITELIGYHPEELLGRSAYEFYHALDSENMTKSHQNLCTKG
  QVVSGQYRMLAKHGGYVWLETQGTVIYNPRNLQPQCIMCVNYVLSEIEKNDVVFSMDQTE
  SLFKPHLMAMNSIFDSSGKGAVSEKSNFLFTKLKEEPEELAQLAPTPGDAIISLDFGNQN
  FEESSAYGKAILPPSQPWATELRSHSTQSEAGSLPAFTVPQAAAPGSTTPSATSSSSSCS
  TPNSPEDYYTSLDNDLKIEVIEKLFAMDTEAKDQCSTQTDFNELDLETLAPYIPMDGEDF
  QLSPICPEERLLAENPQSTPQHCFSAMTNIFQPLAPVAPHSPFLLDKFQQQLESKKTEPE
  HRPMSSIFFDAGSKASLPPCCGQASTPLSSMGGRSNTQWPPDPPLHFGPTKWAVGDQRTE
  FLGAAPLGPPVSPPHVSTFKTRSAKGFGARGPDVLSPAMVALSNKLKLKRQLEYEEQAFQ
  DLSGGDPPGGSTSHLMWKRMKNLRGGSCPLMPDKPLSANVPNDKFTQNPMRGLGHPLRHL
  PLPQPPSAISPGENSKSRFPPQCYATQYQDYSLSSAHKVSGMASRLLGPSFESYLLPELT
  RYDCEVNVPVLGSSTLLQGGDLLRALDQAT

• Sequence length: 870

Pathways

KEGG:

HIF-1 signaling pathway
Pathways in cancer
Renal cell carcinoma

Reactome:

Regulation of gene expression by Hypoxia-inducible Factor
Cellular response to hypoxia
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Transcriptional regulation of pluripotent stem cells
PTK6 Expression
Neddylation

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Erythrocytosis, familial, 4	Pathogenic; Likely pathogenic	rs2103672173, rs137853036, rs137853037, rs2546476675	RCV002273011 RCV000006841 RCV000006842 RCV000006843 RCV003615814	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Asphyxiating thoracic dystrophy 3	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SECONDARY POLYCYTHEMIA	—	Disgenet, HPO, Orphanet Disgenet, HPO, Orphanet Disgenet, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOGENESIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL RENAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL MICROSOMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPAS1-related disorder	Likely benign; Conflicting classifications of pathogenicity; drug response; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROCYTOSIS, FAMILIAL, 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial erythrocytosis	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	drug response; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL LUNG DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYTHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
sorafenib response - Toxicity	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teratoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ABLEPHARON-MACROSTOMIA SYNDROME	Ablepharon macrostomia syndrome	BEFREE	22595196, 27982053		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	26898802		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	26642852		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	12209691, 17437013, 17452775		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15039136, 18728663, 28653893		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	11751212, 25436804, 29469087, 29859855, 30021192, 30501603, 31516564		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	11605159, 16954163, 23418310, 23533246, 23539726, 23653463, 24466223, 24741025, 24908231, 28116635, 28332883, 28667082, 31035382, 31142060		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	28302031, 29993038		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	31695081		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	16826581, 36500549	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	23264599, 24760996, 26296885, 30348300, 30530987, 30630985		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	37285480	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	26296885		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28544376		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	27848972		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31668872		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	18512817	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12823854, 22488178, 35216458	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	LHGDN	17285230		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31668872		★☆☆☆☆ Found in Text Mining only
Autosomal dominant secondary polycythemia	Polycythemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30021192		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	26510548		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11350893		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	17324924		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	25059678		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21877141, 21930697, 22894905, 24535905, 27001847, 27105516, 27270657, 27323688, 27465550, 29993038, 30021192, 30670058, 31591207		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21930697, 22452996, 22894905, 23631762, 24535905, 26825173, 26849233, 27001847, 27105516, 27323688, 27465550, 30670058, 31740625, 35301432, 35501580, 39838295	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19018165, 19483472, 19955413, 21695080, 23331615, 24998849, 25436804, 26846782, 28720067, 28946040, 30104738, 32235007, 32593213, 33591636, 34250767, 34320663, 34965440	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	22705278		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	22452996	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	14966910, 17589895, 24840636, 25544768, 25719580, 27384772, 28387999, 31796646, 32235007	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37461802	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11350893		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	27075652		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21812995, 25436804, 26548300, 26782458, 27862077, 27981753, 31275431		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	11720477, 16230378, 17140440, 17387348, 17699105, 17898043, 18212329, 18394010, 19061835, 19401348, 19483472, 19920202, 20032376, 20185829, 20813864, 21131975, 21602888, 21695080, 22094876, 22113997, 23178531, 23331615, 23335244, 23940778, 24136229, 24998849, 26262842, 26551148, 26943772, 27128972, 27244898, 27583351, 28220024, 28572533, 28946040, 29172931, 29357946, 30144808, 30617181, 30758643, 30824757, 31268155, 32586940, 33591636, 34353313, 34415102, 34818478, 34841698, 35110537, 35408930, 35995140, 36301191, 36500549, 36681680, 36728187, 36739418, 36752726, 38072043, 39747580, 40234880	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33118406	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27413748, 29636077	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28653893	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24661907, 30536571		★☆☆☆☆ Found in Text Mining only
Carney Triad	Carney Triad	BEFREE	25622899		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	29263346, 30255592, 36650517	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29321085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	29321085		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	28302031, 29993038		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	26992434		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	21327823		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	30478339		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	21131975		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28900259, 29738538, 31798631		★☆☆☆☆ Found in Text Mining only
Chronic mountain sickness	Mountain sickness	BEFREE	22595196		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	25569234, 27442627, 31004026		★☆☆☆☆ Found in Text Mining only
Chuvash erythrocytosis	Chuvash Erythrocytosis	BEFREE	21389259, 29480820		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	27128972, 27663598, 28951458		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31241981		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	12610101	Associate	★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	21131975		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22419665, 25216407, 27793037, 27956697, 28848049, 31151160		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	18728663, 19843849	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	19030186		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	21812995, 27956697		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	24825851	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18728663, 22419665, 24825851, 26938486, 27546461, 28848049, 29422508, 30021192, 30542453, 30985693		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18728663, 19619276, 19843849, 20363910, 21073737, 23071744, 24825851, 25396735, 25726527, 27546461, 27793037, 30985693, 34250767, 37994607, 39179631	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	27384772		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	26510548		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	23333640		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	21671771, 29855254		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	30487161, 31015364		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11301389, 15592504, 16230378, 20032376, 20978319, 21131975, 21547579, 21725288, 21725364, 22113997, 22869144, 23178531, 23378636, 23506478, 24136229, 24402943, 24755467, 24916472, 24998849, 25578041, 25829424, 25915846, 26439684, 26551148, 26943772, 26973243, 27412013, 27507852, 27595393, 27728802, 27848972, 28092369, 28217462, 28259286, 28572533, 28667082, 28903320, 28946040, 28951458, 29033582, 29079709, 29172931, 29357946, 29872221, 30144808, 30289716, 30553971, 30625281, 30758643, 31186237, 31231134, 31267758, 31268155, 31282155, 31289360, 31541711, 31575731		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	21131975		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29483579, 31794514		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	29205570, 30487161		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	12610101, 26802079	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	12823854		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20495570, 21869830, 22247019, 24448516, 27477830, 27480933, 28599103, 29263346, 30405206, 30798606, 31148341, 31357086, 31678498, 31765607		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	28067314		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	31682627		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	28067314		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	22039494	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	26513650		★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	33837257	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	31682627		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	12209691	Associate	★☆☆☆☆ Found in Text Mining only
Erythrocytosis Familial 2	Erythrocytosis	Pubtator	21389259	Associate	★☆☆☆☆ Found in Text Mining only
Erythrocytosis familial, 1	Erythrocytosis	BEFREE	18184961, 18508787, 23418310, 23716564, 24482100, 27292716, 29790589		★☆☆☆☆ Found in Text Mining only
Erythrocytosis, Familial, 4	Erythrocytosis	UNIPROT_DG	18184961, 18378852, 19208626, 22367913		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Erythrocytosis, Familial, 4	Erythrocytosis	GENOMICS_ENGLAND_DG	18378852		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Erythrocytosis, Familial, 4	Erythrocytosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Erythrocytosis, Familial, 4	Erythrocytosis	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophagitis	Esophagitis	BEFREE	27694141		★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	27659016	Associate	★☆☆☆☆ Found in Text Mining only
Familial erythrocytosis	Erythrocytosis	BEFREE	18184961, 23418310, 23716564, 27292716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	20139178	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29035368, 30036883		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28112200		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	25730079		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	27694141	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	30057669	Stimulate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	29948390		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	22876139	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19955413, 24481065, 25010988, 25244496, 29492900, 32088728, 33762574, 35054927	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24481065, 25963717, 29422647, 29492900, 30013951, 30089425, 30926789		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24951116, 25244496, 25963717, 29422647, 29492900, 30089425, 30926789		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	16098466, 18055454		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17699105, 25805832	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28813675, 30089425		★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	25059678		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	26846782		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	LHGDN	16826581		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	20395290	Associate	★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	32718338	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	30487161	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	BEFREE	29924941		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	37576964	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	26514359		★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	32094357	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	27384772	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Paraganglioma-Pheochromocytoma Syndrome	Hereditary Paraganglioma-Pheochromocytoma Syndromes	CLINGEN_DG	23090011, 23533246, 27535533		★☆☆☆☆ Found in Text Mining only
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	24041620		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	38002309	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	21389259, 23492195, 27292716, 27982053	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	20197624, 21389259, 23640890, 24101470, 27432976, 29074488, 29855254		★☆☆☆☆ Found in Text Mining only
hypertensive nephropathy	Hypertensive Nephropathy	BEFREE	28928136		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	11336512, 17537234, 19305150, 20010940, 20559021, 20637078, 21179202, 21571835, 22363512, 23331615, 23958427, 24790010, 24825851, 25592037, 25912138, 26388611, 30111297, 30255592, 30642030, 30813460, 30845377, 31796646, 38002309	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	12209691, 12767996, 16956952, 17403672, 17452775, 17670948, 18283323, 18394010, 18508787, 19619276, 19706526, 20032376, 20395290, 20603601, 21389259, 21483406, 22033266, 22094876, 22402494, 22452996, 22894905, 23178531, 23361906, 23509317, 23788753, 23852087, 23965235, 24316875, 24356968, 24394419, 24951777, 25192290, 25244496, 25405996, 25544768, 25605240, 25726527, 25805832, 26009875, 26368009, 26825173, 26849233, 27001847, 27231905, 27323688, 27373565, 27460728, 27529370, 27793037, 28036300, 28193910, 28394947, 28613249, 28946040, 29145444, 29492900, 29534684, 29843956, 30487161, 30574831, 30659163, 30670058, 31189709, 31671624, 31925944, 32028672, 32088728, 32094357, 33371356, 33762574, 33828526, 34665260, 34680921, 34828399, 34929442, 34965440, 35054927, 35301432, 35792080, 36116043, 36208715, 36230969, 36230977, 36244759, 36301191, 36791645, 37146419, 37240301, 37285480, 37807875, 38287821, 39456823, 9636155	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	32886165	Inhibit	★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	26837714		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	GENOMICS_ENGLAND_DG	18378852		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27432976, 29924941		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	24951777	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	29074488		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	36157441	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	12610101	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30455703, 31241981		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	28067314		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	31251999		★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	30352047		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	26296885, 28935635, 30352047, 30530987		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	26746864		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	31189709		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	32886165	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	31055001		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	LHGDN	17526729		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	18544564, 19018165, 29172931, 30617181, 32123166, 34353313, 34841698, 36097292	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	23940778	Stimulate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	27075652	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	25921247		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	37807875	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37124944	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37807875	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24095676, 25921247, 26642852, 29487418		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	30021192		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	26837714		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	14966910		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22145922, 23212661, 24374892, 24486412, 24551189, 25489981, 25591621, 25757011, 26647960, 26735578, 27384772, 27524242, 28153790, 28167508, 28387999, 28587437, 28611447, 29022906, 29091312, 29375719, 29514844, 29654226, 30315182, 31037150, 31796646, 31817100		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	27384772		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	27384772, 28112200	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	27384772	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	23492195, 33810600	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19305150, 26548300, 26782458, 28036300, 28720067, 29469087, 36116043	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19305150, 24288553, 26842802, 26846782, 28653893, 36421334	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27413748	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	18422776	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	19021062		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	25921247		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	18422776	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	30468780		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	26837714		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	24705306, 29069732		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	22804960		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21877141, 22894905, 24535905, 27001847, 27105516, 27270657, 27323688, 27465550, 29993038, 30021192, 30670058, 31591207		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	22037472, 23178531, 24136229, 27595393, 29112883, 29875134, 30275460, 30617181		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29344173, 31735169		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21812995, 25436804, 26548300, 26782458, 27862077, 27981753, 31275431		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24661907, 30536571		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23749643, 25672594, 26842802, 28476028, 28599281, 28705232, 28928287		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21372204, 27384993, 29491063		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20559021, 25338835, 26783937, 26810190		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11350893		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17018600, 17324924, 21073737, 21372204, 21571835, 22178933, 22662215, 22894905, 23178531, 23301832, 23378636, 23707522, 24316875, 24423936, 24825851, 24916472, 25192290, 25417700, 25489981, 25798919, 25829424, 25893706, 26263511, 26348575, 27270657, 27373565, 27465550, 27809360, 27956697, 28249000, 28476028, 28667082, 28690120, 28704917, 28893800, 28951458, 29422508, 29753878, 29796174, 29942795, 30020448, 30209362, 30591590, 30926789, 31275431, 31339433		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29321085		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22419665, 25216407, 27793037, 27956697, 28848049, 31151160		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	19010893		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29330791, 30340507, 31436357		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	28302031, 29993038		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	14512791		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23275444, 30784290, 31310363		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23275444	Associate	★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Melas syndrome	Pubtator	40710331	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	28345785		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	24790010, 27529370, 30111297	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29035368, 30275460, 30523118, 30709906		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	22039494	Associate	★☆☆☆☆ Found in Text Mining only
Microcytic hypochromic anemia (disorder)	Anemia	BEFREE	30630985		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	37847286	Associate	★☆☆☆☆ Found in Text Mining only
Multiple endocrine neoplasia Type 2	Multiple Endocrine Neoplasia	BEFREE	28332883		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	BEFREE	28332883		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28855206, 29206844, 29656700		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	29206844, 29656700	Associate	★☆☆☆☆ Found in Text Mining only
Multiple paragangliomas associated with polycythemia	Multiple Paragangliomas Associated With Polycythemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	BEFREE	22299048		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	31790618		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	26331539, 28533480		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	38253721	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	29483579, 31794514		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	29254228		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	14966910	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17324924, 17670948, 19080330, 19435875, 19662677, 20961996, 21127501, 21327823, 21512133, 21571835, 21725288, 21725364, 21812995, 22037472, 22094876, 22115707, 22183643, 22299048, 22768190, 22894905, 23090011, 23178531, 23212661, 23378636, 23418310, 23479510, 23481210, 23533246, 23749643, 23940778, 24048703, 24189146, 24194900, 24276449, 24374892, 24486412, 24535905, 24676840, 24755468, 24817692, 25192290, 25417700, 25440060, 25500545, 25672594, 25730079, 25798919, 25829424, 25893706, 26298207, 26348575, 26432405, 26439684, 26735578, 26806607, 26842802, 26938486, 27465550, 27507852, 27581364, 27583351, 27595393, 27623205, 27728802, 27845047, 27956697, 28217462, 28249000, 28259286, 28345785, 28544376, 28599281, 28653893, 28690120, 28696319, 28705232, 28903320, 28946040, 29032465, 29033582, 29079709, 29206844, 29247885, 29344173, 29422508, 29481555, 29662659, 29872221, 29938199, 29942795, 30021192, 30340507, 30431439, 30501603, 30536571, 30542453, 30563765, 30591590, 30659096, 30758643, 30836200, 30929736, 31148343, 31151160, 31268155, 31289360, 31308473, 31436357, 31541711, 31575731, 31816327		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	LHGDN	15652356		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17655754, 22363512, 23222716, 23479510, 25148040, 25912138, 26057707, 26432405, 27276678, 28284840, 28696319, 29032465, 29577908, 30468780, 30563765		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	22363512, 25912138, 26057707	Associate	★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	30135421, 31015364		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	26230854, 28332883		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	25833823	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29266399, 30036883, 31430204, 31796646		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24403227, 25193384, 25831463, 26263511, 26782458, 28653893, 29859855, 29920222, 30642030, 30845377, 31275431		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	20363910	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29035368, 30523118		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	26960282		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	12823854, 23965235, 26996575, 29263346, 36650517	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	26996575	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	20495570, 22247019, 30405206		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31098335		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25434862, 27623205, 28259908, 30836200, 30966832		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	25434862, 30966832	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28259908	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24661907, 30536571		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22402494	Associate	★☆☆☆☆ Found in Text Mining only
OVERLAP CONNECTIVE TISSUE DISEASE	MASS syndrome	BEFREE	30725321		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19080330, 23749643, 25672594, 26842802, 28476028, 28599281, 28705232, 28928287		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	28544376		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	25672594		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26842802, 28193910, 36708612	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	30209343		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	21131975		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26846782		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	16954163, 22931260, 23090011, 23418310, 23533246, 23539726, 23653463, 24276449, 24466223, 24741025, 24819565, 24908231, 26492543, 27659016, 28116635, 28332883, 28667082, 28946040, 30644531		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	GENOMICS_ENGLAND_DG	18378852		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	22931260, 23090011, 23361906, 23509317, 23539726, 24466223, 27659016, 27679736, 28162975, 28946040, 30644531, 31185588, 33114456, 36700397, 37285480, 37463949, 37576964	Associate	★☆☆☆☆ Found in Text Mining only
Peptic Esophagitis	Peptic Esophagitis	BEFREE	27694141, 29112883		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	29843956	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	11605159, 16954163, 23418310, 23533246, 23539726, 23653463, 24741025, 24908231, 28332883, 28667082, 31035382, 31142060		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	12368197	Stimulate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	23090011, 23539726, 24466223, 24694336, 28336782, 31185588, 31876082, 33300499, 34320663, 34770976, 36314599, 36700397, 37463949, 40290304	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	36157441	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	11986208, 18184961, 18378852, 18508787, 19208626, 20007141, 22367913, 22931260, 23090011, 23361906, 23509317, 23716564, 25760230, 26625252, 27292716, 27651169, 27659016, 27679736, 29172931, 29534684, 30135421, 30644531, 31185588, 31876082, 32235007, 32470757, 33300499, 34680921, 34818480, 34828399, 36002380, 36700397, 37576964, 38244120	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia	Polycythemia	BEFREE	22931260, 23090011, 23361906, 23539726, 23716564, 24276449, 24819565, 24908231, 26514359, 27659016, 28096303, 28116635, 29118187, 29172931, 29480820, 29534684, 30135421, 30644531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia primary familial and congenital	Polycythemia, primary familial and congenital	Pubtator	18184961, 18508787, 23090011, 23539726, 23716564, 27292716, 36002380, 36700397	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21372204, 27384993, 29491063		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16278385, 17562539		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19363294, 21372204, 27384993, 33752529, 35536859	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	27384993		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	LHGDN	17495954		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	31682627		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	GENOMICS_ENGLAND_DG	18378852		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27432976, 29924941		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	27442627	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	19481479	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	25569234		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	24455740		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	28696319		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	22037472, 23178531, 24136229, 27595393, 29875134, 30275460, 30617181		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11301389, 15592504, 16230378, 20032376, 21131975, 21695080, 22113997, 22869144, 23506478, 23940778, 24189146, 24356968, 24755467, 25297632, 25440060, 25578041, 26439684, 26514359, 26551148, 26620126, 26973243, 27412013, 27583351, 27848972, 28572533, 28951458, 29172931, 29796174, 29938199, 30625281, 31231134, 31289360		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	15217953, 16920734		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	GWASCAT_DG	21131975, 25826619, 28598434, 31231134		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	21131975		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	GWASDB_DG	21131975, 22010048		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	22299048, 28900259		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	23054256		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	28900259		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	25574837, 28613249		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	28946040	Associate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	18787502, 30156910		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	18787502, 40084286	Associate	★☆☆☆☆ Found in Text Mining only
Rh Deficiency Syndrome	Rh deficiency syndrome	Pubtator	24859386	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	37847286	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12823854		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28696319		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	29924941		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	26837714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	34982796	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	20637078	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	23221556	Associate	★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	21131975		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	22115707, 28430666		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20807755, 28653893		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28690120	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	31516564		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	21167768		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29035368, 30036883, 31796646		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	26837714		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20559021, 25338835, 25730079, 26783937, 26810190		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	26810190	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18283323, 20559021, 26810190	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	26826018	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	24288553, 26846782, 36609218	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29084538		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	36609218	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	29084538	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	36609218	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	22801492, 24248265		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	LHGDN	18319549		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18319549, 29321085	Associate	★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	22277691	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	22277691		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	23492195	Associate	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	21389259, 22037472, 22299048, 24189146, 25440060, 25866969, 28394947, 31541711		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	26960282		★☆☆☆☆ Found in Text Mining only