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

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	112399
Gene name Gene Name - the full gene name approved by the HGNC.	Egl-9 family hypoxia inducible factor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EGLN3
Synonyms (NCBI Gene) Gene synonyms aliases	HIFP4H3, HIFPH3, PHD3
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q13.1

Show/Hide all(278)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003110	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR	19296470
MIRT003110	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR	19296470
MIRT006289	hsa-miR-20a-5p	Luciferase reporter assay, Western blot	22182733
MIRT006289	hsa-miR-20a-5p	Luciferase reporter assay, Western blot	22182733
MIRT006289	hsa-miR-20a-5p	Luciferase reporter assay, Western blot	22182733
MIRT020155	hsa-miR-130b-3p	Sequencing	20371350
MIRT027522	hsa-miR-98-5p	Microarray	19088304
MIRT028026	hsa-miR-93-5p	Sequencing	20371350
MIRT031128	hsa-miR-19b-3p	Sequencing	20371350
MIRT050427	hsa-miR-23a-3p	CLASH	23622248
MIRT046547	hsa-let-7i-5p	CLASH	23622248
MIRT040873	hsa-miR-18a-3p	CLASH	23622248
MIRT020155	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT548479	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT548478	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT548477	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT548476	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT548474	hsa-miR-3666	PAR-CLIP	21572407
MIRT548475	hsa-miR-4295	PAR-CLIP	21572407
MIRT548473	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT548472	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT548471	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT548470	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT548469	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT548468	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT006289	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT028026	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT548467	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT548466	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT548465	hsa-miR-3609	PAR-CLIP	21572407
MIRT548464	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT548463	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT548462	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT548461	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT548460	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT558207	hsa-miR-3938	PAR-CLIP	21572407
MIRT558206	hsa-miR-4762-5p	PAR-CLIP	21572407
MIRT558205	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT558204	hsa-miR-6803-3p	PAR-CLIP	21572407
MIRT558203	hsa-miR-4655-3p	PAR-CLIP	21572407
MIRT548459	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT548458	hsa-miR-1298-5p	PAR-CLIP	21572407
MIRT558202	hsa-miR-642a-5p	PAR-CLIP	21572407
MIRT020155	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT548479	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT548478	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT548477	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT548476	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT548474	hsa-miR-3666	PAR-CLIP	21572407
MIRT548475	hsa-miR-4295	PAR-CLIP	21572407
MIRT548473	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT548472	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT548471	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT548470	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT548469	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT548468	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT006289	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT028026	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT548467	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT548466	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT548465	hsa-miR-3609	PAR-CLIP	21572407
MIRT548464	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT548463	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT548462	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT548461	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT548460	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT548459	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT548458	hsa-miR-1298-5p	PAR-CLIP	21572407
MIRT020155	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT548479	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT548478	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT548477	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT548476	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT548474	hsa-miR-3666	PAR-CLIP	21572407
MIRT548475	hsa-miR-4295	PAR-CLIP	21572407
MIRT548473	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT548472	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT548471	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT548470	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT548469	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT548468	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT006289	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT028026	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT548467	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT548466	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT548465	hsa-miR-3609	PAR-CLIP	21572407
MIRT548464	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT548463	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT548462	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT548461	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT548460	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT558207	hsa-miR-3938	PAR-CLIP	21572407
MIRT558206	hsa-miR-4762-5p	PAR-CLIP	21572407
MIRT558205	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT558204	hsa-miR-6803-3p	PAR-CLIP	21572407
MIRT558203	hsa-miR-4655-3p	PAR-CLIP	21572407
MIRT548459	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT548458	hsa-miR-1298-5p	PAR-CLIP	21572407
MIRT558202	hsa-miR-642a-5p	PAR-CLIP	21572407
MIRT020155	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT548479	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT548478	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT548477	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT548476	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT548474	hsa-miR-3666	PAR-CLIP	21572407
MIRT548475	hsa-miR-4295	PAR-CLIP	21572407
MIRT548473	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT548472	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT548471	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT548470	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT548469	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT548468	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT006289	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT028026	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT548467	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT548466	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT548465	hsa-miR-3609	PAR-CLIP	21572407
MIRT548464	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT548463	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT548462	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT548461	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT548460	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT548459	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT548458	hsa-miR-1298-5p	PAR-CLIP	21572407
MIRT954869	hsa-miR-1252	CLIP-seq
MIRT954870	hsa-miR-1286	CLIP-seq
MIRT954871	hsa-miR-129-3p	CLIP-seq
MIRT954872	hsa-miR-1299	CLIP-seq
MIRT954873	hsa-miR-1302	CLIP-seq
MIRT954874	hsa-miR-140-3p	CLIP-seq
MIRT954875	hsa-miR-182	CLIP-seq
MIRT954876	hsa-miR-1827	CLIP-seq
MIRT954877	hsa-miR-1913	CLIP-seq
MIRT954878	hsa-miR-202	CLIP-seq
MIRT954879	hsa-miR-2277-3p	CLIP-seq
MIRT954880	hsa-miR-31	CLIP-seq
MIRT954881	hsa-miR-3153	CLIP-seq
MIRT954882	hsa-miR-3169	CLIP-seq
MIRT954883	hsa-miR-3189-5p	CLIP-seq
MIRT954884	hsa-miR-324-3p	CLIP-seq
MIRT954885	hsa-miR-340	CLIP-seq
MIRT954886	hsa-miR-3611	CLIP-seq
MIRT954887	hsa-miR-3653	CLIP-seq
MIRT954888	hsa-miR-3658	CLIP-seq
MIRT954889	hsa-miR-3675-5p	CLIP-seq
MIRT954890	hsa-miR-3678-5p	CLIP-seq
MIRT954891	hsa-miR-425	CLIP-seq
MIRT954892	hsa-miR-4283	CLIP-seq
MIRT954893	hsa-miR-4291	CLIP-seq
MIRT954894	hsa-miR-4298	CLIP-seq
MIRT954895	hsa-miR-4489	CLIP-seq
MIRT954896	hsa-miR-4511	CLIP-seq
MIRT954897	hsa-miR-4515	CLIP-seq
MIRT954898	hsa-miR-4646-5p	CLIP-seq
MIRT954899	hsa-miR-4649-3p	CLIP-seq
MIRT954900	hsa-miR-4656	CLIP-seq
MIRT954901	hsa-miR-4668-3p	CLIP-seq
MIRT954902	hsa-miR-4668-5p	CLIP-seq
MIRT954903	hsa-miR-4678	CLIP-seq
MIRT954904	hsa-miR-4698	CLIP-seq
MIRT954905	hsa-miR-4722-5p	CLIP-seq
MIRT954906	hsa-miR-4731-3p	CLIP-seq
MIRT954907	hsa-miR-4758-3p	CLIP-seq
MIRT954908	hsa-miR-4764-5p	CLIP-seq
MIRT954909	hsa-miR-4777-5p	CLIP-seq
MIRT954910	hsa-miR-4801	CLIP-seq
MIRT954911	hsa-miR-495	CLIP-seq
MIRT954912	hsa-miR-518d-5p	CLIP-seq
MIRT954913	hsa-miR-519b-5p	CLIP-seq
MIRT954914	hsa-miR-519c-5p	CLIP-seq
MIRT954915	hsa-miR-520c-5p	CLIP-seq
MIRT954916	hsa-miR-526a	CLIP-seq
MIRT954917	hsa-miR-545	CLIP-seq
MIRT954918	hsa-miR-548b-3p	CLIP-seq
MIRT954919	hsa-miR-548p	CLIP-seq
MIRT954920	hsa-miR-556-3p	CLIP-seq
MIRT954921	hsa-miR-570	CLIP-seq
MIRT954922	hsa-miR-616	CLIP-seq
MIRT954923	hsa-miR-875-3p	CLIP-seq
MIRT954871	hsa-miR-129-3p	CLIP-seq
MIRT1982803	hsa-miR-300	CLIP-seq
MIRT1982804	hsa-miR-3074-5p	CLIP-seq
MIRT1982805	hsa-miR-370	CLIP-seq
MIRT1982806	hsa-miR-381	CLIP-seq
MIRT1982807	hsa-miR-3919	CLIP-seq
MIRT1982808	hsa-miR-4768-5p	CLIP-seq
MIRT1982809	hsa-miR-508-5p	CLIP-seq
MIRT1982810	hsa-miR-520a-5p	CLIP-seq
MIRT1982811	hsa-miR-525-5p	CLIP-seq
MIRT2217754	hsa-miR-106a	CLIP-seq
MIRT2217755	hsa-miR-106b	CLIP-seq
MIRT2217756	hsa-miR-1205	CLIP-seq
MIRT954869	hsa-miR-1252	CLIP-seq
MIRT954871	hsa-miR-129-3p	CLIP-seq
MIRT2217757	hsa-miR-1298	CLIP-seq
MIRT954872	hsa-miR-1299	CLIP-seq
MIRT2217758	hsa-miR-130a	CLIP-seq
MIRT2217759	hsa-miR-130b	CLIP-seq
MIRT2217760	hsa-miR-1323	CLIP-seq
MIRT2217761	hsa-miR-136	CLIP-seq
MIRT954874	hsa-miR-140-3p	CLIP-seq
MIRT2217762	hsa-miR-140-5p	CLIP-seq
MIRT2217763	hsa-miR-17	CLIP-seq
MIRT954875	hsa-miR-182	CLIP-seq
MIRT2217764	hsa-miR-199a-3p	CLIP-seq
MIRT2217765	hsa-miR-199b-3p	CLIP-seq
MIRT954878	hsa-miR-202	CLIP-seq
MIRT2217766	hsa-miR-20a	CLIP-seq
MIRT2217767	hsa-miR-20b	CLIP-seq
MIRT954879	hsa-miR-2277-3p	CLIP-seq
MIRT2217768	hsa-miR-301a	CLIP-seq
MIRT2217769	hsa-miR-301b	CLIP-seq
MIRT2217770	hsa-miR-3074-3p	CLIP-seq
MIRT954880	hsa-miR-31	CLIP-seq
MIRT2217771	hsa-miR-3124-3p	CLIP-seq
MIRT2217772	hsa-miR-3129-5p	CLIP-seq
MIRT954886	hsa-miR-3611	CLIP-seq
MIRT2217773	hsa-miR-361-5p	CLIP-seq
MIRT2217774	hsa-miR-3663-5p	CLIP-seq
MIRT2217775	hsa-miR-3671	CLIP-seq
MIRT2217776	hsa-miR-3684	CLIP-seq
MIRT2217777	hsa-miR-3689a-5p	CLIP-seq
MIRT2217778	hsa-miR-3689b	CLIP-seq
MIRT2217779	hsa-miR-3689e	CLIP-seq
MIRT2217780	hsa-miR-3689f	CLIP-seq
MIRT2217781	hsa-miR-3692	CLIP-seq
MIRT2217782	hsa-miR-371-5p	CLIP-seq
MIRT2217783	hsa-miR-371b-5p	CLIP-seq
MIRT2217784	hsa-miR-411	CLIP-seq
MIRT954891	hsa-miR-425	CLIP-seq
MIRT2217785	hsa-miR-4268	CLIP-seq
MIRT2217786	hsa-miR-4270	CLIP-seq
MIRT2217787	hsa-miR-4420	CLIP-seq
MIRT2217788	hsa-miR-4441	CLIP-seq
MIRT2217789	hsa-miR-4445	CLIP-seq
MIRT2217790	hsa-miR-4448	CLIP-seq
MIRT2217791	hsa-miR-4529-5p	CLIP-seq
MIRT2217792	hsa-miR-454	CLIP-seq
MIRT2217793	hsa-miR-4643	CLIP-seq
MIRT954903	hsa-miR-4678	CLIP-seq
MIRT2217794	hsa-miR-4690-5p	CLIP-seq
MIRT2217795	hsa-miR-4696	CLIP-seq
MIRT2217796	hsa-miR-4699-5p	CLIP-seq
MIRT2217797	hsa-miR-4709-3p	CLIP-seq
MIRT954906	hsa-miR-4731-3p	CLIP-seq
MIRT2217798	hsa-miR-4753-3p	CLIP-seq
MIRT954908	hsa-miR-4764-5p	CLIP-seq
MIRT954909	hsa-miR-4777-5p	CLIP-seq
MIRT954910	hsa-miR-4801	CLIP-seq
MIRT954912	hsa-miR-518d-5p	CLIP-seq
MIRT2217799	hsa-miR-519a	CLIP-seq
MIRT954913	hsa-miR-519b-5p	CLIP-seq
MIRT954914	hsa-miR-519c-5p	CLIP-seq
MIRT2217800	hsa-miR-519d	CLIP-seq
MIRT954915	hsa-miR-520c-5p	CLIP-seq
MIRT954916	hsa-miR-526a	CLIP-seq
MIRT2217801	hsa-miR-548ah	CLIP-seq
MIRT2217802	hsa-miR-548o	CLIP-seq
MIRT954920	hsa-miR-556-3p	CLIP-seq
MIRT2217803	hsa-miR-562	CLIP-seq
MIRT2217804	hsa-miR-568	CLIP-seq
MIRT954921	hsa-miR-570	CLIP-seq
MIRT2217805	hsa-miR-607	CLIP-seq
MIRT954922	hsa-miR-616	CLIP-seq
MIRT2217806	hsa-miR-642a	CLIP-seq
MIRT2217807	hsa-miR-645	CLIP-seq
MIRT2217808	hsa-miR-668	CLIP-seq
MIRT2217809	hsa-miR-720	CLIP-seq
MIRT2217810	hsa-miR-873	CLIP-seq
MIRT2217811	hsa-miR-93	CLIP-seq
MIRT2217812	hsa-miR-936	CLIP-seq
MIRT2217813	hsa-miR-942	CLIP-seq
MIRT954869	hsa-miR-1252	CLIP-seq
MIRT954871	hsa-miR-129-3p	CLIP-seq
MIRT954886	hsa-miR-3611	CLIP-seq
MIRT954906	hsa-miR-4731-3p	CLIP-seq
MIRT954908	hsa-miR-4764-5p	CLIP-seq
MIRT954910	hsa-miR-4801	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
HIF1A	Unknown	15156561
STAT6	Unknown	18342537

Show/Hide all(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	15721254, 16511565, 17353276, 19584355, 20849813, 21575608, 21620138, 21988832, 22286099, 25416956, 26972000, 31515488, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12615973
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
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
GO:0006915	Process	Apoptotic process	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008198	Function	Ferrous iron binding	IBA
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:0018126	Process	Protein hydroxylation	IDA	19584355
GO:0031418	Function	L-ascorbic acid binding	IEA
GO:0031545	Function	Peptidyl-proline 4-dioxygenase activity	IBA
GO:0031545	Function	Peptidyl-proline 4-dioxygenase activity	IDA	11598268
GO:0031545	Function	Peptidyl-proline 4-dioxygenase activity	IEA
GO:0043523	Process	Regulation of neuron apoptotic process	IBA
GO:0043523	Process	Regulation of neuron apoptotic process	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA
GO:0071456	Process	Cellular response to hypoxia	IBA
GO:0160082	Function	Hypoxia-inducible factor-proline dioxygenase activity	IEA

MIM	HGNC	e!Ensembl
606426	14661	ENSG00000129521

Protein

UniProt ID

Q9H6Z9

Protein name

Prolyl hydroxylase EGLN3 (EC 1.14.11.-) (Egl nine homolog 3) (EC 1.14.11.29) (HPH-1) (Hypoxia-inducible factor prolyl hydroxylase 3) (HIF-PH3) (HIF-prolyl hydroxylase 3) (HPH-3) (Prolyl hydroxylase domain-containing protein 3) (PHD3)

Protein function

Prolyl hydroxylase that mediates hydroxylation of proline residues in target proteins, such as PKM, TELO2, ATF4 and HIF1A (PubMed:19584355, PubMed:20978507, PubMed:21483450, PubMed:21575608, PubMed:21620138, PubMed:22797300). Target proteins are

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13640	2OG-FeII_Oxy_3	120 → 213	2OG-Fe(II) oxygenase superfamily	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed at low levels. Expressed at higher levels in adult heart (cardiac myocytes, aortic endothelial cells and coronary artery smooth muscle), lung and placenta, and in fetal spleen, heart and skeletal muscle. Also expressed

Sequence

MPLGHIMRLDLEKIALEYIVPCLHEVGFCYLDNFLGEVVGDCVLERVKQLHCTGALRDGQ
LAGPRAGVSKRHLRGDQITWIGGNEEGCEAISFLLSLIDRLVLYCGSRLGKYYVKERSKA
MVACYPGNGTGYVRHVDNPNGDGRCITCIYYLNKNWDAKLHGGILRIFPEGKSFIADVEP
IFDRLLFFWSDRRNPHEVQPSYATRYAMTVWYFDAEERAEAKKKFRNLTRKTESALTED

Sequence length

239

Interactions

View interactions

	KEGG		Reactome
	HIF-1 signaling pathway Pathways in cancer Renal cell carcinoma		Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Celiac disease	Celiac disease	N/A	N/A	GWAS
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (43)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	36147635, 37842058, 40102484
Adenoma Oxyphilic	Associate	33118406
Alopecia	Associate	35862273
Altitude Sickness	Inhibit	18954447
Breast Neoplasms	Associate	21291529, 26372732
Carcinogenesis	Associate	33606679
Carcinogenesis	Inhibit	37814811
Carcinoma Hepatocellular	Associate	24452951, 28099905, 35549979, 36746728
Carcinoma Non Small Cell Lung	Associate	25081707
Carcinoma Pancreatic Ductal	Associate	25542265
Carcinoma Renal Cell	Associate	24477694, 30617181, 32228647, 33118406
Carcinoma Squamous Cell	Associate	24565165
Colorectal Neoplasms	Associate	24195777, 24852431, 35994813
Colorectal Neoplasms	Inhibit	37814811
COVID 19	Stimulate	37285404
Glioma	Associate	30795814
Hypertension	Associate	36277897
Hypoxia	Stimulate	15104534, 37285404
Hypoxia	Associate	21297970, 22087251, 24114211, 25420589, 26223520, 29117193, 29206844, 30383835, 35549979, 37842058
Hypoxia Brain	Stimulate	15104534, 22087251
Hypoxia Brain	Associate	22277691, 25542265, 26223520, 26372732, 29117193, 29206844
Hypoxia Brain	Inhibit	29400343
Kidney Neoplasms	Associate	26223520, 30617181
Lymphatic Metastasis	Stimulate	25081707
Lymphatic Metastasis	Associate	38184692
Malformations of Cortical Development Group I	Associate	16098468
Melanoma Cutaneous Malignant	Associate	34517481
Multiple Myeloma	Associate	29206844
Neoplasm Metastasis	Inhibit	37814811, 38184692
Neoplasms	Associate	19724277, 20973793, 20980436, 21291529, 22087251, 22898032, 24565165, 25420589, 26223520, 29117193, 30617181, 37814811, 38184692
Neoplasms	Inhibit	24195777, 28099905
Neuroblastoma	Associate	29117193
Obesity	Inhibit	24819376
Overweight	Inhibit	24819376
Pancreatic Neoplasms	Associate	25542265, 30334361
Pheochromocytoma	Associate	16098460, 16098468
Prostatic Neoplasms	Inhibit	21297970
Prostatic Neoplasms	Associate	30216369
Prostatitis	Associate	21297970
Pulmonary edema of mountaineers	Associate	31827636
Squamous Cell Carcinoma of Head and Neck	Associate	22087251
Stomach Neoplasms	Inhibit	38184692
von Hippel Lindau Disease	Associate	35760869

EGLN3 (egl-9 family hypoxia inducible factor 3)