EGLN1 (egl-9 family hypoxia inducible factor 1)

Gene

• Entrez ID: 54583
• Gene name: Egl-9 family hypoxia inducible factor 1
• Gene symbol: EGLN1
• Synonyms (NCBI Gene): C1orf12, ECYT3, HALAH, HIF-PH2, HIFPH2, HPH-2, HPH2, PHD2, SM20, ZMYND6
• Chromosome: 1
• Chromosome location: 1q42.2
• Summary: The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein func

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs12097901	C>G	Affects, benign	Missense variant, coding sequence variant
rs80358193	G>C	Pathogenic	Missense variant, coding sequence variant
rs119476044	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs119476045	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs186996510	G>C	Affects, benign, likely-benign	Coding sequence variant, missense variant
rs1018129986	G>T	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016815	hsa-miR-335-5p	Microarray	18185580
MIRT038498	hsa-miR-296-3p	CLASH	23622248
MIRT544371	hsa-miR-548n	PAR-CLIP	21572407
MIRT544370	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT544369	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT544368	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT544367	hsa-miR-3129-3p	PAR-CLIP	21572407
MIRT544366	hsa-miR-5583-5p	PAR-CLIP	21572407
MIRT544365	hsa-miR-452-5p	PAR-CLIP	21572407
MIRT544364	hsa-miR-4676-3p	PAR-CLIP	21572407
MIRT544363	hsa-miR-892c-3p	PAR-CLIP	21572407
MIRT544362	hsa-miR-134-5p	PAR-CLIP	21572407
MIRT544361	hsa-miR-3118	PAR-CLIP	21572407
MIRT544360	hsa-miR-943	PAR-CLIP	21572407
MIRT544359	hsa-miR-5692a	PAR-CLIP	21572407
MIRT544358	hsa-miR-3646	PAR-CLIP	21572407
MIRT544357	hsa-miR-4694-3p	PAR-CLIP	21572407
MIRT544356	hsa-miR-224-3p	PAR-CLIP	21572407
MIRT544355	hsa-miR-522-3p	PAR-CLIP	21572407
MIRT544354	hsa-miR-203a-3p	PAR-CLIP	21572407
MIRT544352	hsa-miR-4790-3p	PAR-CLIP	21572407
MIRT544353	hsa-miR-3201	PAR-CLIP	21572407
MIRT544351	hsa-miR-4791	PAR-CLIP	21572407
MIRT544350	hsa-miR-4529-5p	PAR-CLIP	21572407
MIRT544349	hsa-miR-3187-3p	PAR-CLIP	21572407
MIRT544371	hsa-miR-548n	PAR-CLIP	21572407
MIRT544370	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT544369	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT544368	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT544367	hsa-miR-3129-3p	PAR-CLIP	21572407
MIRT544366	hsa-miR-5583-5p	PAR-CLIP	21572407
MIRT544365	hsa-miR-452-5p	PAR-CLIP	21572407
MIRT544364	hsa-miR-4676-3p	PAR-CLIP	21572407
MIRT544363	hsa-miR-892c-3p	PAR-CLIP	21572407
MIRT544362	hsa-miR-134-5p	PAR-CLIP	21572407
MIRT544361	hsa-miR-3118	PAR-CLIP	21572407
MIRT544360	hsa-miR-943	PAR-CLIP	21572407
MIRT544359	hsa-miR-5692a	PAR-CLIP	21572407
MIRT544358	hsa-miR-3646	PAR-CLIP	21572407
MIRT544357	hsa-miR-4694-3p	PAR-CLIP	21572407
MIRT544356	hsa-miR-224-3p	PAR-CLIP	21572407
MIRT544355	hsa-miR-522-3p	PAR-CLIP	21572407
MIRT544354	hsa-miR-203a-3p	PAR-CLIP	21572407
MIRT544352	hsa-miR-4790-3p	PAR-CLIP	21572407
MIRT544353	hsa-miR-3201	PAR-CLIP	21572407
MIRT544351	hsa-miR-4791	PAR-CLIP	21572407
MIRT544350	hsa-miR-4529-5p	PAR-CLIP	21572407
MIRT544349	hsa-miR-3187-3p	PAR-CLIP	21572407
MIRT954782	hsa-miR-1231	CLIP-seq
MIRT954783	hsa-miR-127-5p	CLIP-seq
MIRT954784	hsa-miR-2052	CLIP-seq
MIRT954785	hsa-miR-31	CLIP-seq
MIRT954786	hsa-miR-3120-5p	CLIP-seq
MIRT954787	hsa-miR-3128	CLIP-seq
MIRT954788	hsa-miR-3135	CLIP-seq
MIRT954789	hsa-miR-3159	CLIP-seq
MIRT954790	hsa-miR-3617	CLIP-seq
MIRT954791	hsa-miR-3655	CLIP-seq
MIRT954792	hsa-miR-3662	CLIP-seq
MIRT954793	hsa-miR-421	CLIP-seq
MIRT954794	hsa-miR-4263	CLIP-seq
MIRT954795	hsa-miR-4310	CLIP-seq
MIRT954796	hsa-miR-4421	CLIP-seq
MIRT954797	hsa-miR-4470	CLIP-seq
MIRT954798	hsa-miR-4477a	CLIP-seq
MIRT954799	hsa-miR-450b-5p	CLIP-seq
MIRT954800	hsa-miR-4652-3p	CLIP-seq
MIRT954801	hsa-miR-4709-5p	CLIP-seq
MIRT954802	hsa-miR-4717-5p	CLIP-seq
MIRT954803	hsa-miR-4720-5p	CLIP-seq
MIRT954804	hsa-miR-4789-3p	CLIP-seq
MIRT954805	hsa-miR-4799-3p	CLIP-seq
MIRT954806	hsa-miR-4800-3p	CLIP-seq
MIRT954807	hsa-miR-507	CLIP-seq
MIRT954808	hsa-miR-557	CLIP-seq
MIRT954809	hsa-miR-576-5p	CLIP-seq
MIRT954810	hsa-miR-578	CLIP-seq
MIRT954811	hsa-miR-624	CLIP-seq
MIRT954812	hsa-miR-641	CLIP-seq
MIRT1548213	hsa-miR-1273e	CLIP-seq
MIRT1548214	hsa-miR-3616-5p	CLIP-seq
MIRT1548215	hsa-miR-3647-5p	CLIP-seq
MIRT1548216	hsa-miR-3689a-3p	CLIP-seq
MIRT1548217	hsa-miR-3689c	CLIP-seq
MIRT1548218	hsa-miR-3929	CLIP-seq
MIRT1548219	hsa-miR-4259	CLIP-seq
MIRT1548220	hsa-miR-4419b	CLIP-seq
MIRT1548221	hsa-miR-4425	CLIP-seq
MIRT1548222	hsa-miR-4478	CLIP-seq
MIRT1548223	hsa-miR-4670-3p	CLIP-seq
MIRT1548224	hsa-miR-4705	CLIP-seq
MIRT1548225	hsa-miR-4715-5p	CLIP-seq
MIRT1548226	hsa-miR-4728-5p	CLIP-seq
MIRT1548227	hsa-miR-485-5p	CLIP-seq
MIRT1548228	hsa-miR-573	CLIP-seq
MIRT1982771	hsa-miR-1208	CLIP-seq
MIRT1548213	hsa-miR-1273e	CLIP-seq
MIRT1982772	hsa-miR-1299	CLIP-seq
MIRT1982773	hsa-miR-1305	CLIP-seq
MIRT1982774	hsa-miR-1976	CLIP-seq
MIRT1982775	hsa-miR-203	CLIP-seq
MIRT1982776	hsa-miR-3182	CLIP-seq
MIRT1982777	hsa-miR-3192	CLIP-seq
MIRT1982778	hsa-miR-3202	CLIP-seq
MIRT1982779	hsa-miR-34c-3p	CLIP-seq
MIRT1982780	hsa-miR-3647-3p	CLIP-seq
MIRT1982781	hsa-miR-3671	CLIP-seq
MIRT1548216	hsa-miR-3689a-3p	CLIP-seq
MIRT1548217	hsa-miR-3689c	CLIP-seq
MIRT1982782	hsa-miR-382	CLIP-seq
MIRT1548218	hsa-miR-3929	CLIP-seq
MIRT1548219	hsa-miR-4259	CLIP-seq
MIRT1982783	hsa-miR-4274	CLIP-seq
MIRT1982784	hsa-miR-4279	CLIP-seq
MIRT1548220	hsa-miR-4419b	CLIP-seq
MIRT1548221	hsa-miR-4425	CLIP-seq
MIRT1982785	hsa-miR-4474-3p	CLIP-seq
MIRT1548222	hsa-miR-4478	CLIP-seq
MIRT1982786	hsa-miR-4533	CLIP-seq
MIRT954800	hsa-miR-4652-3p	CLIP-seq
MIRT1982787	hsa-miR-4687-3p	CLIP-seq
MIRT1982788	hsa-miR-4698	CLIP-seq
MIRT1548225	hsa-miR-4715-5p	CLIP-seq
MIRT1982789	hsa-miR-4718	CLIP-seq
MIRT1548226	hsa-miR-4728-5p	CLIP-seq
MIRT1982790	hsa-miR-4731-3p	CLIP-seq
MIRT1982791	hsa-miR-4801	CLIP-seq
MIRT1982792	hsa-miR-4803	CLIP-seq
MIRT1548227	hsa-miR-485-5p	CLIP-seq
MIRT1982793	hsa-miR-490-3p	CLIP-seq
MIRT1982794	hsa-miR-501-3p	CLIP-seq
MIRT1982795	hsa-miR-502-3p	CLIP-seq
MIRT1982796	hsa-miR-607	CLIP-seq
MIRT1982797	hsa-miR-633	CLIP-seq
MIRT1982798	hsa-miR-658	CLIP-seq
MIRT1982799	hsa-miR-767-5p	CLIP-seq
MIRT1982800	hsa-miR-875-3p	CLIP-seq
MIRT2217662	hsa-miR-1183	CLIP-seq
MIRT2217663	hsa-miR-1184	CLIP-seq
MIRT2217664	hsa-miR-1205	CLIP-seq
MIRT954782	hsa-miR-1231	CLIP-seq
MIRT2217665	hsa-miR-1271	CLIP-seq
MIRT1548213	hsa-miR-1273e	CLIP-seq
MIRT2217666	hsa-miR-182	CLIP-seq
MIRT1982774	hsa-miR-1976	CLIP-seq
MIRT2217667	hsa-miR-2054	CLIP-seq
MIRT2217668	hsa-miR-224	CLIP-seq
MIRT2217669	hsa-miR-23a	CLIP-seq
MIRT2217670	hsa-miR-23b	CLIP-seq
MIRT2217671	hsa-miR-23c	CLIP-seq
MIRT954788	hsa-miR-3135	CLIP-seq
MIRT2217672	hsa-miR-3158-5p	CLIP-seq
MIRT1982776	hsa-miR-3182	CLIP-seq
MIRT1982777	hsa-miR-3192	CLIP-seq
MIRT2217673	hsa-miR-346	CLIP-seq
MIRT2217674	hsa-miR-3609	CLIP-seq
MIRT954790	hsa-miR-3617	CLIP-seq
MIRT2217675	hsa-miR-3653	CLIP-seq
MIRT954791	hsa-miR-3655	CLIP-seq
MIRT2217676	hsa-miR-3680	CLIP-seq
MIRT1548216	hsa-miR-3689a-3p	CLIP-seq
MIRT1548217	hsa-miR-3689c	CLIP-seq
MIRT2217677	hsa-miR-370	CLIP-seq
MIRT2217678	hsa-miR-383	CLIP-seq
MIRT2217679	hsa-miR-3920	CLIP-seq
MIRT1982784	hsa-miR-4279	CLIP-seq
MIRT2217680	hsa-miR-4282	CLIP-seq
MIRT2217681	hsa-miR-4288	CLIP-seq
MIRT954797	hsa-miR-4470	CLIP-seq
MIRT954798	hsa-miR-4477a	CLIP-seq
MIRT2217682	hsa-miR-4504	CLIP-seq
MIRT2217683	hsa-miR-4528	CLIP-seq
MIRT2217684	hsa-miR-4642	CLIP-seq
MIRT954800	hsa-miR-4652-3p	CLIP-seq
MIRT1982788	hsa-miR-4698	CLIP-seq
MIRT954803	hsa-miR-4720-5p	CLIP-seq
MIRT1548226	hsa-miR-4728-5p	CLIP-seq
MIRT2217685	hsa-miR-4732-5p	CLIP-seq
MIRT2217686	hsa-miR-4796-5p	CLIP-seq
MIRT2217687	hsa-miR-4798-3p	CLIP-seq
MIRT954805	hsa-miR-4799-3p	CLIP-seq
MIRT1982793	hsa-miR-490-3p	CLIP-seq
MIRT2217688	hsa-miR-520d-5p	CLIP-seq
MIRT2217689	hsa-miR-524-5p	CLIP-seq
MIRT2217690	hsa-miR-548ah	CLIP-seq
MIRT2217691	hsa-miR-552	CLIP-seq
MIRT2217692	hsa-miR-576-3p	CLIP-seq
MIRT954810	hsa-miR-578	CLIP-seq
MIRT2217693	hsa-miR-632	CLIP-seq
MIRT954812	hsa-miR-641	CLIP-seq
MIRT1982798	hsa-miR-658	CLIP-seq
MIRT2217694	hsa-miR-96	CLIP-seq
MIRT954788	hsa-miR-3135	CLIP-seq
MIRT954797	hsa-miR-4470	CLIP-seq
MIRT2448716	hsa-miR-4684-5p	CLIP-seq
MIRT2521663	hsa-miR-1246	CLIP-seq
MIRT1548213	hsa-miR-1273e	CLIP-seq
MIRT2521664	hsa-miR-1298	CLIP-seq
MIRT2521665	hsa-miR-150	CLIP-seq
MIRT2521666	hsa-miR-155	CLIP-seq
MIRT2521667	hsa-miR-181a	CLIP-seq
MIRT2521668	hsa-miR-181b	CLIP-seq
MIRT2521669	hsa-miR-181c	CLIP-seq
MIRT2521670	hsa-miR-181d	CLIP-seq
MIRT1982774	hsa-miR-1976	CLIP-seq
MIRT1982775	hsa-miR-203	CLIP-seq
MIRT954784	hsa-miR-2052	CLIP-seq
MIRT2521671	hsa-miR-219-1-3p	CLIP-seq
MIRT954788	hsa-miR-3135	CLIP-seq
MIRT2521672	hsa-miR-3140-3p	CLIP-seq
MIRT2521673	hsa-miR-3163	CLIP-seq
MIRT2521674	hsa-miR-3200-5p	CLIP-seq
MIRT1982779	hsa-miR-34c-3p	CLIP-seq
MIRT2217674	hsa-miR-3609	CLIP-seq
MIRT954790	hsa-miR-3617	CLIP-seq
MIRT2217675	hsa-miR-3653	CLIP-seq
MIRT1548216	hsa-miR-3689a-3p	CLIP-seq
MIRT1548217	hsa-miR-3689c	CLIP-seq
MIRT2217679	hsa-miR-3920	CLIP-seq
MIRT2521675	hsa-miR-410	CLIP-seq
MIRT2521676	hsa-miR-4262	CLIP-seq
MIRT954794	hsa-miR-4263	CLIP-seq
MIRT1982784	hsa-miR-4279	CLIP-seq
MIRT2217680	hsa-miR-4282	CLIP-seq
MIRT2521677	hsa-miR-4283	CLIP-seq
MIRT2521678	hsa-miR-4464	CLIP-seq
MIRT954797	hsa-miR-4470	CLIP-seq
MIRT1982785	hsa-miR-4474-3p	CLIP-seq
MIRT2521679	hsa-miR-4496	CLIP-seq
MIRT954799	hsa-miR-450b-5p	CLIP-seq
MIRT2521680	hsa-miR-4639-5p	CLIP-seq
MIRT2448716	hsa-miR-4684-5p	CLIP-seq
MIRT1982787	hsa-miR-4687-3p	CLIP-seq
MIRT1982789	hsa-miR-4718	CLIP-seq
MIRT2521681	hsa-miR-4724-5p	CLIP-seq
MIRT1548226	hsa-miR-4728-5p	CLIP-seq
MIRT2521682	hsa-miR-4748	CLIP-seq
MIRT2521683	hsa-miR-4760-3p	CLIP-seq
MIRT2521684	hsa-miR-4793-5p	CLIP-seq
MIRT954806	hsa-miR-4800-3p	CLIP-seq
MIRT1982792	hsa-miR-4803	CLIP-seq
MIRT1982793	hsa-miR-490-3p	CLIP-seq
MIRT2521685	hsa-miR-494	CLIP-seq
MIRT2521686	hsa-miR-495	CLIP-seq
MIRT954807	hsa-miR-507	CLIP-seq
MIRT2521687	hsa-miR-5096	CLIP-seq
MIRT2521688	hsa-miR-513b	CLIP-seq
MIRT2521689	hsa-miR-514	CLIP-seq
MIRT2521690	hsa-miR-514b-3p	CLIP-seq
MIRT2521691	hsa-miR-522	CLIP-seq
MIRT2521692	hsa-miR-526b	CLIP-seq
MIRT2521693	hsa-miR-543	CLIP-seq
MIRT2217690	hsa-miR-548ah	CLIP-seq
MIRT2521694	hsa-miR-549	CLIP-seq
MIRT2217691	hsa-miR-552	CLIP-seq
MIRT954808	hsa-miR-557	CLIP-seq
MIRT2521695	hsa-miR-571	CLIP-seq
MIRT954809	hsa-miR-576-5p	CLIP-seq
MIRT954810	hsa-miR-578	CLIP-seq
MIRT2521696	hsa-miR-614	CLIP-seq
MIRT954812	hsa-miR-641	CLIP-seq
MIRT2521697	hsa-miR-663b	CLIP-seq
MIRT2521698	hsa-miR-664	CLIP-seq
MIRT2521663	hsa-miR-1246	CLIP-seq
MIRT1548213	hsa-miR-1273e	CLIP-seq
MIRT2679844	hsa-miR-1343	CLIP-seq
MIRT2521665	hsa-miR-150	CLIP-seq
MIRT2521666	hsa-miR-155	CLIP-seq
MIRT1982774	hsa-miR-1976	CLIP-seq
MIRT1982775	hsa-miR-203	CLIP-seq
MIRT954784	hsa-miR-2052	CLIP-seq
MIRT2521671	hsa-miR-219-1-3p	CLIP-seq
MIRT954788	hsa-miR-3135	CLIP-seq
MIRT2521672	hsa-miR-3140-3p	CLIP-seq
MIRT2679845	hsa-miR-3147	CLIP-seq
MIRT2521673	hsa-miR-3163	CLIP-seq
MIRT2521674	hsa-miR-3200-5p	CLIP-seq
MIRT1982779	hsa-miR-34c-3p	CLIP-seq
MIRT2217674	hsa-miR-3609	CLIP-seq
MIRT2679846	hsa-miR-3613-3p	CLIP-seq
MIRT954790	hsa-miR-3617	CLIP-seq
MIRT1548216	hsa-miR-3689a-3p	CLIP-seq
MIRT1548217	hsa-miR-3689c	CLIP-seq
MIRT2679847	hsa-miR-371-5p	CLIP-seq
MIRT2679848	hsa-miR-371b-5p	CLIP-seq
MIRT2217679	hsa-miR-3920	CLIP-seq
MIRT2679849	hsa-miR-3940-5p	CLIP-seq
MIRT2521675	hsa-miR-410	CLIP-seq
MIRT1982784	hsa-miR-4279	CLIP-seq
MIRT2217680	hsa-miR-4282	CLIP-seq
MIRT2521677	hsa-miR-4283	CLIP-seq
MIRT2521678	hsa-miR-4464	CLIP-seq
MIRT954797	hsa-miR-4470	CLIP-seq
MIRT1982785	hsa-miR-4474-3p	CLIP-seq
MIRT2521679	hsa-miR-4496	CLIP-seq
MIRT2679850	hsa-miR-4507	CLIP-seq
MIRT954799	hsa-miR-450b-5p	CLIP-seq
MIRT2679851	hsa-miR-451b	CLIP-seq
MIRT2679852	hsa-miR-4637	CLIP-seq
MIRT2521680	hsa-miR-4639-5p	CLIP-seq
MIRT2448716	hsa-miR-4684-5p	CLIP-seq
MIRT1982787	hsa-miR-4687-3p	CLIP-seq
MIRT2679853	hsa-miR-4696	CLIP-seq
MIRT1982789	hsa-miR-4718	CLIP-seq
MIRT1548226	hsa-miR-4728-5p	CLIP-seq
MIRT2521682	hsa-miR-4748	CLIP-seq
MIRT2521683	hsa-miR-4760-3p	CLIP-seq
MIRT2521684	hsa-miR-4793-5p	CLIP-seq
MIRT954806	hsa-miR-4800-3p	CLIP-seq
MIRT1982792	hsa-miR-4803	CLIP-seq
MIRT1982793	hsa-miR-490-3p	CLIP-seq
MIRT2521685	hsa-miR-494	CLIP-seq
MIRT2521686	hsa-miR-495	CLIP-seq
MIRT954807	hsa-miR-507	CLIP-seq
MIRT2521687	hsa-miR-5096	CLIP-seq
MIRT2521688	hsa-miR-513b	CLIP-seq
MIRT2521689	hsa-miR-514	CLIP-seq
MIRT2521690	hsa-miR-514b-3p	CLIP-seq
MIRT2521691	hsa-miR-522	CLIP-seq
MIRT2521692	hsa-miR-526b	CLIP-seq
MIRT2217690	hsa-miR-548ah	CLIP-seq
MIRT2521694	hsa-miR-549	CLIP-seq
MIRT954808	hsa-miR-557	CLIP-seq
MIRT2521695	hsa-miR-571	CLIP-seq
MIRT954810	hsa-miR-578	CLIP-seq
MIRT2521696	hsa-miR-614	CLIP-seq
MIRT954812	hsa-miR-641	CLIP-seq
MIRT2521697	hsa-miR-663b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETV4	Unknown	22075993
HIF1A	Unknown	12839937;22075993
SIRT1	Repression	22245592

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IDA	16956324
GO:0004857	Function	Enzyme inhibitor activity	ISS
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	15721254, 16511565, 17353276, 19208626, 20840591, 22286099, 24169621, 24681946, 25974097, 30487161
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	12615973
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS	8606489
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0008198	Function	Ferrous iron binding	IBA
GO:0008198	Function	Ferrous iron binding	IDA	28594552
GO:0008270	Function	Zinc ion binding	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016706	Function	2-oxoglutarate-dependent dioxygenase activity	IDA	22955912
GO:0019899	Function	Enzyme binding	ISS
GO:0031418	Function	L-ascorbic acid binding	IEA
GO:0031543	Function	Peptidyl-proline dioxygenase activity	TAS	16956324
GO:0031545	Function	Peptidyl-proline 4-dioxygenase activity	IBA
GO:0031545	Function	Peptidyl-proline 4-dioxygenase activity	IEA
GO:0032364	Process	Intracellular oxygen homeostasis	IDA	16956324
GO:0043523	Process	Regulation of neuron apoptotic process	IBA
GO:0045765	Process	Regulation of angiogenesis	IEA
GO:0045765	Process	Regulation of angiogenesis	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IEA
GO:0060347	Process	Heart trabecula formation	IEA
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060711	Process	Labyrinthine layer development	IEA
GO:0071456	Process	Cellular response to hypoxia	IBA
GO:0071731	Process	Response to nitric oxide	IDA	21601578
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099159	Process	Regulation of modification of postsynaptic structure	IEA
GO:0140252	Process	Regulation protein catabolic process at postsynapse	IEA
GO:0160082	Function	Hypoxia-inducible factor-proline dioxygenase activity	IDA	11598268
GO:0160082	Function	Hypoxia-inducible factor-proline dioxygenase activity	IEA
GO:1902072	Process	Negative regulation of hypoxia-inducible factor-1alpha signaling pathway	IDA	16956324

Other IDs

• MIM: 606425
• HGNC: 1232
• e!Ensembl: ENSG00000135766

Protein

• UniProt ID: Q9GZT9
• Protein name: Egl nine homolog 1 (EC 1.14.11.29) (Hypoxia-inducible factor prolyl hydroxylase 2) (HIF-PH2) (HIF-prolyl hydroxylase 2) (HPH-2) (Prolyl hydroxylase domain-containing protein 2) (PHD2) (SM-20)
• Protein function: Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degrad
• PDB: 2G19, 2G1M, 2HBT, 2HBU, 2Y33, 2Y34, 3HQR, 3HQU, 3OUH, 3OUI, 3OUJ, 4BQW, 4BQX, 4BQY, 4JZR, 4KBZ, 4UWD, 5A3U, 5L9B, 5L9R, 5L9V, 5LA9, 5LAS, 5LAT, 5LB6, 5LBB, 5LBC, 5LBE, 5LBF, 5OX5, 5OX6, 5V18, 6NMQ, 6QGV, 6ST3, 6YVT, 6YVW, 6YVX, 6YVZ, 6YW0, 6YW1, 6YW2, 6YW3, 6YW4, 6ZBN, 6ZBO, 7Q5V, 7Q5X, 7UJV, 7UMP, 8J1K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01753	zf-MYND	21 → 58	MYND finger	Domain
  PF13640	2OG-FeII_Oxy_3	298 → 391	2OG-Fe(II) oxygenase superfamily	Domain

• Tissue specificity: TISSUE SPECIFICITY: According to PubMed:11056053, widely expressed with highest levels in skeletal muscle and heart, moderate levels in pancreas, brain (dopaminergic neurons of adult and fetal substantia nigra) and kidney, and lower levels in lung and liv
• Sequence:

  MANDSGGPGGPSPSERDRQYCELCGKMENLLRCSRCRSSFYCCKEHQRQDWKKHKLVCQG
  SEGALGHGVGPHQHSGPAPPAAVPPPRAGAREPRKAAARRDNASGDAAKGKVKAKPPADP
  AAAASPCRAAAGGQGSAVAAEAEPGKEEPPARSSLFQEKANLYPPSNTPGDALSPGGGLR
  PNGQTKPLPALKLALEYIVPCMNKHGICVVDDFLGKETGQQIGDEVRALHDTGKFTDGQL
  VSQKSDSSKDIRGDKITWIEGKEPGCETIGLLMSSMDDLIRHCNGKLGSYKINGRTKAMV
  ACYPGNGTGYVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKF
  DRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARAKVKYLTGEKGVRVELNKPSDS
  VGKDVF

• Sequence length: 426

Pathways

KEGG:

HIF-1 signaling pathway
Pathways in cancer
Renal cell carcinoma

Reactome:

Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha

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, 3	Pathogenic	rs2102898170, rs119476044, rs119476045, rs1656591590, rs2527358629, rs1018129986	RCV001353370 RCV000004604 RCV000004605 RCV003611054 RCV003612116 RCV000804652	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT SECONDARY POLYCYTHEMIA	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MASTOCYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EGLN1-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial erythrocytosis	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin, high altitude adaptation	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar ClinVar, GenCC, HPO ClinVar, GenCC, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
POLYCYTHEMIA	—	Disgenet	★★☆☆☆ 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, 25431923, 30278484		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	25248926		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30575913		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	GENOMICS_ENGLAND_DG	17579185		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	20959442, 21115163, 23061808, 23418310, 25263965		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	20973793, 23264599, 28625716		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	20973793	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	22488178		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	22488178	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	22488178	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	22488178	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31355780		★☆☆☆☆ Found in Text Mining only
Autosomal dominant secondary polycythemia	Polycythemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Ischemia	Cerebral Ischemia	LHGDN	17932321		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20727020, 20856199, 21877141, 28329677		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28038470, 37661833	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22236543, 25546659	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16489060, 21705185		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	25181405	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25546659, 26624507, 31852247	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28036300		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30575913	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31285371		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	21705185		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28537846		★☆☆☆☆ Found in Text Mining only
Chronic mountain sickness	Mountain sickness	BEFREE	22595196		★☆☆☆☆ Found in Text Mining only
Chuvash erythrocytosis	Chuvash Erythrocytosis	BEFREE	23090011		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	20600011, 29688249		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	40527798	Stimulate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31838134		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28199842		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22802519, 24195777	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31296099		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20959442, 20978146, 22804960		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	21194030		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	40527798	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	22488178, 28349987		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16161047, 31819628		★☆☆☆☆ Found in Text Mining only
Enteritis	Enteritis	BEFREE	29688249		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34588521	Associate	★☆☆☆☆ Found in Text Mining only
Erythrocytosis Familial 2	Erythrocytosis	Pubtator	28400504	Associate	★☆☆☆☆ Found in Text Mining only
Erythrocytosis familial, 1	Erythrocytosis	BEFREE	16407130, 16687917, 17933562, 18834144, 19092153, 19494350, 20959442, 21933857		★☆☆☆☆ Found in Text Mining only
Erythrocytosis, Familial, 3	Erythrocytosis	UNIPROT_DG	16407130, 17579185		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Erythrocytosis, Familial, 3	Erythrocytosis	GENOMICS_ENGLAND_DG	17579185		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Erythrocytosis, Familial, 3	Erythrocytosis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Erythrocytosis, Familial, 3	Erythrocytosis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Extra-Adrenal Paraganglioma	Extra-Adrenal Paraganglioma	BEFREE	21933857		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	28186209		★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	25181405	Associate	★☆☆☆☆ Found in Text Mining only
Familial erythrocytosis	Erythrocytosis	BEFREE	16407130, 16687917, 17933562, 18834144, 19092153, 19494350, 20959442, 21933857		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	BEFREE	30036883		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25010988		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25010988	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25010988		★☆☆☆☆ Found in Text Mining only
Hartnup Disease	Hartnup Disease	BEFREE	9060407, 9060408		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31296099		★☆☆☆☆ Found in Text Mining only
Hereditary Paraganglioma-Pheochromocytoma Syndrome	Hereditary Paraganglioma-Pheochromocytoma Syndromes	CLINGEN_DG	16161047, 18505927, 19092153, 19092513, 21933857, 25263965		★☆☆☆☆ Found in Text Mining only
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	20956315, 23130672, 26047609, 26436397		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	BEFREE	9060408		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27919930, 28445205		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	14984367, 15104534, 32886165	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	17114296, 21297970, 21933857, 23077544, 28036300, 28400504, 28613249, 29534684, 29625625, 35937460, 36244759, 37661833, 38287821	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	18976673, 25010988	Inhibit	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31377947		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	40527798	Stimulate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	25635047		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30677555		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	32886165	Associate	★☆☆☆☆ Found in Text Mining only
KUFOR-RAKEB SYNDROME	Kufor-Rakeb Syndrome	BEFREE	26818499		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31413262		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25546659, 30587920		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28036300	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20727020, 20856199, 21877141, 28329677		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	16161047, 31819628		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28036300		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30898838, 31285371		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28089830		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20527723, 22804960, 25546659, 26235614, 27561929, 28900510, 29772209, 30817904, 30898838		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22804960, 31838134		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20856199		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	20574527, 26547841, 30575721		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	19737309		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	19737309		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	23694817		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	16782814	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	21194030		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16161047, 16489060, 19092153, 19737309, 20026900, 20856199, 20978146, 21291529, 21660559, 21933857, 25546659, 26235614, 26323721, 26754054, 28329677, 30575721, 31838134		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30036883		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28725215		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	22488178	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29967369		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31285371		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30898838	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	GENOMICS_ENGLAND_DG	17579185		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	19092153, 21115163, 21933857, 23418310, 25263965, 27659016, 29917232, 31307198		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	21933857, 27659016	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	26818499, 29471019		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	16098460, 23090011, 24694336, 28336782, 36013579	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	GENOMICS_ENGLAND_DG	17579185		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	20959442, 21115163, 25263965		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	GENOMICS_ENGLAND_DG	17579185		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia	Polycythemia	Pubtator	17579185, 20007141, 21828119, 21933857, 26624507, 26754054, 27651169, 28400504, 32755251, 33534944, 37317877	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia	Polycythemia	LHGDN	18834144		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia	Polycythemia	BEFREE	21933857, 23539726, 25263965, 26754054, 27919930		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia primary familial and congenital	Polycythemia, primary familial and congenital	Pubtator	16407130, 16687917, 16782814, 21933857, 23090011, 37317877	Associate	★☆☆☆☆ Found in Text Mining only
Primary Graft Dysfunction	Primary graft dysfunction	Pubtator	18727701	Stimulate	★☆☆☆☆ Found in Text Mining only
Prion Diseases	Prion disease	Pubtator	25231392	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28089830		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36629160	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	38287821	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Edema	Pulmonary edema	Pubtator	20956315	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	26436397, 27210110, 36180894	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28699703		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20959442, 20978146		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28266128		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	25574837		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	22488178		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	16161047, 20026900		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	20026900	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27515179		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	16489060		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	30575913		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	16489060		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30036883		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22236543	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	19147576	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33099935	Associate	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	19737309		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	19737309		★☆☆☆☆ Found in Text Mining only