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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	112399
Gene name	Egl-9 family hypoxia inducible factor 3
Gene symbol	EGLN3
Synonyms (NCBI Gene)	HIFP4H3HIFPH3PHD3
Chromosome	14
Chromosome location	14q13.1

278

Show/Hide all (278)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003110	hsa-miR-122-5p	Luciferase reporter assayqRT-PCR	19296470
MIRT003110	hsa-miR-122-5p	Luciferase reporter assayqRT-PCR	19296470
MIRT006289	hsa-miR-20a-5p	Luciferase reporter assayWestern blot	22182733
MIRT006289	hsa-miR-20a-5p	Luciferase reporter assayWestern blot	22182733
MIRT006289	hsa-miR-20a-5p	Luciferase reporter assayWestern 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

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

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

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

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE ACCOMMODATION DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (88)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	17102081, 20959442, 31375625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23152165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	27912196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26995088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	19066215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28716863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	25420773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	26995088		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	19737309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20727020, 21291529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21291529, 26372732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33606679	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37814811	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24452951, 28099905, 35549979, 36746728	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21748337, 29339541, 31656668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25542265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24477694, 30617181, 32228647, 33118406	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24565165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	23978105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic mountain sickness	Mountain sickness	BEFREE	18954447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	20600011, 26124271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31092600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24195777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24195777, 24852431, 35994813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37814811	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	21671771		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20676679, 20959442, 31692952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	22778395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18600258, 28356975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30795814	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	28054119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29228603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	BEFREE	26254182, 28079055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	36277897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	15104534, 37285404	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21297970, 22087251, 24114211, 25420589, 26223520, 29117193, 29206844, 30383835, 35549979, 37842058	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	26124271, 31377947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	22948157, 28495754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	26223520, 30617181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27635760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28099905, 29375719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28099905		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	CTD_human_DG	28108177		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	BEFREE	29339541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25081707	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	38184692	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20727020, 21291529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	28108177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21748337, 29339541, 31656668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20978507, 30334361, 30555241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21297970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28901473		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16098468, 20978507, 21297970, 27635760, 28356975, 29339541, 29375719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22804960, 31092600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29100336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	34517481	Associate	★★★★★ ★☆☆☆☆ 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, 29206844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	29206844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	23978105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19737309, 20978507, 21291529, 21748337, 21877141, 22778395, 23533015, 25081707, 25420773, 28099905, 28356975, 28901473, 29117193, 29206844, 29375719 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29117193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	29117193	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21748337, 25081707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24819376	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30563292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20978507, 30334361, 30555241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	24367580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25542265, 30334361	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	24367580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	16098460, 16098468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	17102081, 20959442, 31375625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pili torti-deafness syndrome	Pili Torti-Deafness Syndrome	BEFREE	18600258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	BEFREE	15642663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21297970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21297970	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30216369	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	31827636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14871811, 20676679, 20959442, 31692952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22087251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	22087251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28901473		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	38184692	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	22778395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	22277691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	19737309, 20959442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	19737309		★★★★★ ★☆☆☆☆ Found in Text Mining only

EGLN3 (egl-9 family hypoxia inducible factor 3)