EGLN2 (egl-9 family hypoxia inducible factor 2)

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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 112398
• Gene name: Egl-9 family hypoxia inducible factor 2
• Gene symbol: EGLN2
• Synonyms (NCBI Gene): EIT-6, EIT6, HIF-PH1, HIFPH1, HPH-1, HPH-3, PHD1
• Chromosome: 19
• Chromosome location: 19q13.2
• Summary: The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this p

miRNA Show/Hide all (257)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006784	hsa-miR-205-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22859986
MIRT006784	hsa-miR-205-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22859986
MIRT051206	hsa-miR-16-5p	CLASH	23622248
MIRT049430	hsa-miR-92a-3p	CLASH	23622248
MIRT708273	hsa-miR-4267	HITS-CLIP	19536157
MIRT708272	hsa-miR-5193	HITS-CLIP	19536157
MIRT708271	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT708270	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT708269	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT708268	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT708267	hsa-miR-7977	HITS-CLIP	19536157
MIRT708266	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT708265	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT708273	hsa-miR-4267	HITS-CLIP	19536157
MIRT708272	hsa-miR-5193	HITS-CLIP	19536157
MIRT708271	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT708270	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT708269	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT708268	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT708267	hsa-miR-7977	HITS-CLIP	19536157
MIRT708266	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT708265	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT954813	hsa-let-7a	CLIP-seq
MIRT954814	hsa-let-7b	CLIP-seq
MIRT954815	hsa-let-7c	CLIP-seq
MIRT954816	hsa-let-7d	CLIP-seq
MIRT954817	hsa-let-7e	CLIP-seq
MIRT954818	hsa-let-7f	CLIP-seq
MIRT954819	hsa-let-7g	CLIP-seq
MIRT954820	hsa-let-7i	CLIP-seq
MIRT954821	hsa-miR-1236	CLIP-seq
MIRT954822	hsa-miR-125a-3p	CLIP-seq
MIRT954823	hsa-miR-1301	CLIP-seq
MIRT954824	hsa-miR-198	CLIP-seq
MIRT954825	hsa-miR-202	CLIP-seq
MIRT954826	hsa-miR-2110	CLIP-seq
MIRT954827	hsa-miR-23a	CLIP-seq
MIRT954828	hsa-miR-23b	CLIP-seq
MIRT954829	hsa-miR-23c	CLIP-seq
MIRT954830	hsa-miR-3135b	CLIP-seq
MIRT954831	hsa-miR-3150a-3p	CLIP-seq
MIRT954832	hsa-miR-3175	CLIP-seq
MIRT954833	hsa-miR-3189-3p	CLIP-seq
MIRT954834	hsa-miR-339-5p	CLIP-seq
MIRT954835	hsa-miR-3652	CLIP-seq
MIRT954836	hsa-miR-3660	CLIP-seq
MIRT954837	hsa-miR-3921	CLIP-seq
MIRT954838	hsa-miR-3936	CLIP-seq
MIRT954839	hsa-miR-3944-5p	CLIP-seq
MIRT954840	hsa-miR-4279	CLIP-seq
MIRT954841	hsa-miR-4430	CLIP-seq
MIRT954842	hsa-miR-4458	CLIP-seq
MIRT954843	hsa-miR-4500	CLIP-seq
MIRT954844	hsa-miR-4504	CLIP-seq
MIRT954845	hsa-miR-4526	CLIP-seq
MIRT954846	hsa-miR-4645-5p	CLIP-seq
MIRT954847	hsa-miR-4649-3p	CLIP-seq
MIRT954848	hsa-miR-4653-5p	CLIP-seq
MIRT954849	hsa-miR-4660	CLIP-seq
MIRT954850	hsa-miR-4673	CLIP-seq
MIRT954851	hsa-miR-5047	CLIP-seq
MIRT954852	hsa-miR-545	CLIP-seq
MIRT954853	hsa-miR-549	CLIP-seq
MIRT954854	hsa-miR-576-3p	CLIP-seq
MIRT954855	hsa-miR-578	CLIP-seq
MIRT954856	hsa-miR-647	CLIP-seq
MIRT954857	hsa-miR-765	CLIP-seq
MIRT954858	hsa-miR-939	CLIP-seq
MIRT954859	hsa-miR-942	CLIP-seq
MIRT954860	hsa-miR-98	CLIP-seq
MIRT954861	hsa-miR-1913	CLIP-seq
MIRT954862	hsa-miR-324-3p	CLIP-seq
MIRT954863	hsa-miR-3664-5p	CLIP-seq
MIRT954864	hsa-miR-4519	CLIP-seq
MIRT954865	hsa-miR-455-3p	CLIP-seq
MIRT954866	hsa-miR-4690-3p	CLIP-seq
MIRT954867	hsa-miR-4714-5p	CLIP-seq
MIRT954868	hsa-miR-885-3p	CLIP-seq
MIRT1982801	hsa-miR-4729	CLIP-seq
MIRT1982802	hsa-miR-4747-5p	CLIP-seq
MIRT954813	hsa-let-7a	CLIP-seq
MIRT954814	hsa-let-7b	CLIP-seq
MIRT954815	hsa-let-7c	CLIP-seq
MIRT954816	hsa-let-7d	CLIP-seq
MIRT954817	hsa-let-7e	CLIP-seq
MIRT954818	hsa-let-7f	CLIP-seq
MIRT954819	hsa-let-7g	CLIP-seq
MIRT954820	hsa-let-7i	CLIP-seq
MIRT2217695	hsa-miR-1233	CLIP-seq
MIRT954821	hsa-miR-1236	CLIP-seq
MIRT954822	hsa-miR-125a-3p	CLIP-seq
MIRT2217696	hsa-miR-1275	CLIP-seq
MIRT2217697	hsa-miR-1286	CLIP-seq
MIRT954823	hsa-miR-1301	CLIP-seq
MIRT2217698	hsa-miR-1324	CLIP-seq
MIRT2217699	hsa-miR-18a	CLIP-seq
MIRT2217700	hsa-miR-18b	CLIP-seq
MIRT954861	hsa-miR-1913	CLIP-seq
MIRT2217701	hsa-miR-1915	CLIP-seq
MIRT2217702	hsa-miR-193a-3p	CLIP-seq
MIRT2217703	hsa-miR-193b	CLIP-seq
MIRT2217704	hsa-miR-1976	CLIP-seq
MIRT954825	hsa-miR-202	CLIP-seq
MIRT954826	hsa-miR-2110	CLIP-seq
MIRT954827	hsa-miR-23a	CLIP-seq
MIRT954828	hsa-miR-23b	CLIP-seq
MIRT954829	hsa-miR-23c	CLIP-seq
MIRT2217705	hsa-miR-3120-5p	CLIP-seq
MIRT954830	hsa-miR-3135b	CLIP-seq
MIRT2217706	hsa-miR-3140-5p	CLIP-seq
MIRT954831	hsa-miR-3150a-3p	CLIP-seq
MIRT954832	hsa-miR-3175	CLIP-seq
MIRT2217707	hsa-miR-3192	CLIP-seq
MIRT2217708	hsa-miR-3199	CLIP-seq
MIRT954862	hsa-miR-324-3p	CLIP-seq
MIRT2217709	hsa-miR-324-5p	CLIP-seq
MIRT2217710	hsa-miR-326	CLIP-seq
MIRT2217711	hsa-miR-330-5p	CLIP-seq
MIRT2217712	hsa-miR-346	CLIP-seq
MIRT2217713	hsa-miR-361-3p	CLIP-seq
MIRT954835	hsa-miR-3652	CLIP-seq
MIRT954836	hsa-miR-3660	CLIP-seq
MIRT954863	hsa-miR-3664-5p	CLIP-seq
MIRT2217714	hsa-miR-3675-5p	CLIP-seq
MIRT2217715	hsa-miR-3691-3p	CLIP-seq
MIRT954837	hsa-miR-3921	CLIP-seq
MIRT2217716	hsa-miR-3926	CLIP-seq
MIRT954838	hsa-miR-3936	CLIP-seq
MIRT2217717	hsa-miR-3943	CLIP-seq
MIRT954839	hsa-miR-3944-5p	CLIP-seq
MIRT954840	hsa-miR-4279	CLIP-seq
MIRT2217718	hsa-miR-4288	CLIP-seq
MIRT2217719	hsa-miR-4290	CLIP-seq
MIRT2217720	hsa-miR-4314	CLIP-seq
MIRT954841	hsa-miR-4430	CLIP-seq
MIRT2217721	hsa-miR-4436a	CLIP-seq
MIRT2217722	hsa-miR-4456	CLIP-seq
MIRT954842	hsa-miR-4458	CLIP-seq
MIRT954843	hsa-miR-4500	CLIP-seq
MIRT2217723	hsa-miR-4503	CLIP-seq
MIRT954844	hsa-miR-4504	CLIP-seq
MIRT2217724	hsa-miR-4514	CLIP-seq
MIRT2217725	hsa-miR-4515	CLIP-seq
MIRT954864	hsa-miR-4519	CLIP-seq
MIRT2217726	hsa-miR-451b	CLIP-seq
MIRT954845	hsa-miR-4526	CLIP-seq
MIRT2217727	hsa-miR-4533	CLIP-seq
MIRT954865	hsa-miR-455-3p	CLIP-seq
MIRT954846	hsa-miR-4645-5p	CLIP-seq
MIRT2217728	hsa-miR-4646-5p	CLIP-seq
MIRT954847	hsa-miR-4649-3p	CLIP-seq
MIRT954848	hsa-miR-4653-5p	CLIP-seq
MIRT2217729	hsa-miR-4659a-5p	CLIP-seq
MIRT2217730	hsa-miR-4659b-5p	CLIP-seq
MIRT954849	hsa-miR-4660	CLIP-seq
MIRT2217731	hsa-miR-4665-5p	CLIP-seq
MIRT954850	hsa-miR-4673	CLIP-seq
MIRT2217732	hsa-miR-4685-5p	CLIP-seq
MIRT2217733	hsa-miR-4687-5p	CLIP-seq
MIRT954866	hsa-miR-4690-3p	CLIP-seq
MIRT2217734	hsa-miR-4692	CLIP-seq
MIRT2217735	hsa-miR-4700-3p	CLIP-seq
MIRT954867	hsa-miR-4714-5p	CLIP-seq
MIRT2217736	hsa-miR-4722-3p	CLIP-seq
MIRT2217737	hsa-miR-4727-5p	CLIP-seq
MIRT1982801	hsa-miR-4729	CLIP-seq
MIRT2217738	hsa-miR-4733-3p	CLIP-seq
MIRT2217739	hsa-miR-4735-3p	CLIP-seq
MIRT1982802	hsa-miR-4747-5p	CLIP-seq
MIRT2217740	hsa-miR-4757-5p	CLIP-seq
MIRT2217741	hsa-miR-4763-5p	CLIP-seq
MIRT2217742	hsa-miR-4769-3p	CLIP-seq
MIRT2217743	hsa-miR-4793-5p	CLIP-seq
MIRT2217744	hsa-miR-486-3p	CLIP-seq
MIRT954851	hsa-miR-5047	CLIP-seq
MIRT2217745	hsa-miR-541	CLIP-seq
MIRT954852	hsa-miR-545	CLIP-seq
MIRT2217746	hsa-miR-548s	CLIP-seq
MIRT954853	hsa-miR-549	CLIP-seq
MIRT2217747	hsa-miR-550a	CLIP-seq
MIRT954855	hsa-miR-578	CLIP-seq
MIRT2217748	hsa-miR-617	CLIP-seq
MIRT2217749	hsa-miR-632	CLIP-seq
MIRT954856	hsa-miR-647	CLIP-seq
MIRT2217750	hsa-miR-654-5p	CLIP-seq
MIRT2217751	hsa-miR-711	CLIP-seq
MIRT2217752	hsa-miR-760	CLIP-seq
MIRT954857	hsa-miR-765	CLIP-seq
MIRT954868	hsa-miR-885-3p	CLIP-seq
MIRT954858	hsa-miR-939	CLIP-seq
MIRT2217753	hsa-miR-940	CLIP-seq
MIRT954859	hsa-miR-942	CLIP-seq
MIRT954860	hsa-miR-98	CLIP-seq
MIRT1982802	hsa-miR-4747-5p	CLIP-seq
MIRT954821	hsa-miR-1236	CLIP-seq
MIRT2521699	hsa-miR-133a	CLIP-seq
MIRT2521700	hsa-miR-133b	CLIP-seq
MIRT2217699	hsa-miR-18a	CLIP-seq
MIRT2217700	hsa-miR-18b	CLIP-seq
MIRT954861	hsa-miR-1913	CLIP-seq
MIRT954826	hsa-miR-2110	CLIP-seq
MIRT954827	hsa-miR-23a	CLIP-seq
MIRT954828	hsa-miR-23b	CLIP-seq
MIRT954829	hsa-miR-23c	CLIP-seq
MIRT954830	hsa-miR-3135b	CLIP-seq
MIRT954831	hsa-miR-3150a-3p	CLIP-seq
MIRT954832	hsa-miR-3175	CLIP-seq
MIRT954833	hsa-miR-3189-3p	CLIP-seq
MIRT954862	hsa-miR-324-3p	CLIP-seq
MIRT954835	hsa-miR-3652	CLIP-seq
MIRT954863	hsa-miR-3664-5p	CLIP-seq
MIRT2217714	hsa-miR-3675-5p	CLIP-seq
MIRT2521701	hsa-miR-3692	CLIP-seq
MIRT2217716	hsa-miR-3926	CLIP-seq
MIRT954838	hsa-miR-3936	CLIP-seq
MIRT2217717	hsa-miR-3943	CLIP-seq
MIRT2521702	hsa-miR-4268	CLIP-seq
MIRT954840	hsa-miR-4279	CLIP-seq
MIRT954841	hsa-miR-4430	CLIP-seq
MIRT2521703	hsa-miR-4448	CLIP-seq
MIRT954864	hsa-miR-4519	CLIP-seq
MIRT954865	hsa-miR-455-3p	CLIP-seq
MIRT954846	hsa-miR-4645-5p	CLIP-seq
MIRT2217729	hsa-miR-4659a-5p	CLIP-seq
MIRT2217730	hsa-miR-4659b-5p	CLIP-seq
MIRT954850	hsa-miR-4673	CLIP-seq
MIRT954866	hsa-miR-4690-3p	CLIP-seq
MIRT2217735	hsa-miR-4700-3p	CLIP-seq
MIRT954867	hsa-miR-4714-5p	CLIP-seq
MIRT2217736	hsa-miR-4722-3p	CLIP-seq
MIRT2217739	hsa-miR-4735-3p	CLIP-seq
MIRT2217741	hsa-miR-4763-5p	CLIP-seq
MIRT2217742	hsa-miR-4769-3p	CLIP-seq
MIRT2217744	hsa-miR-486-3p	CLIP-seq
MIRT954852	hsa-miR-545	CLIP-seq
MIRT2217746	hsa-miR-548s	CLIP-seq
MIRT954853	hsa-miR-549	CLIP-seq
MIRT2217747	hsa-miR-550a	CLIP-seq
MIRT2217748	hsa-miR-617	CLIP-seq
MIRT954857	hsa-miR-765	CLIP-seq
MIRT954868	hsa-miR-885-3p	CLIP-seq
MIRT954858	hsa-miR-939	CLIP-seq
MIRT954859	hsa-miR-942	CLIP-seq
MIRT954861	hsa-miR-1913	CLIP-seq
MIRT954862	hsa-miR-324-3p	CLIP-seq
MIRT954863	hsa-miR-3664-5p	CLIP-seq
MIRT2217714	hsa-miR-3675-5p	CLIP-seq
MIRT2521701	hsa-miR-3692	CLIP-seq
MIRT2217717	hsa-miR-3943	CLIP-seq
MIRT2521702	hsa-miR-4268	CLIP-seq
MIRT2521703	hsa-miR-4448	CLIP-seq
MIRT2217735	hsa-miR-4700-3p	CLIP-seq
MIRT954867	hsa-miR-4714-5p	CLIP-seq
MIRT2217744	hsa-miR-486-3p	CLIP-seq
MIRT954852	hsa-miR-545	CLIP-seq
MIRT954853	hsa-miR-549	CLIP-seq
MIRT2217748	hsa-miR-617	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ARNT	Unknown	15178343

Gene ontology (GO) Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001558	Process	Regulation of cell growth	NAS	11850811
GO:0001666	Process	Response to hypoxia	IDA	11595184
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	16511565, 17353276, 22286099
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11850811, 12615973
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0008198	Function	Ferrous iron binding	IBA
GO:0008198	Function	Ferrous iron binding	IDA	28594552
GO:0008198	Function	Ferrous iron binding	NAS	12039559
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	11595184, 22955912
GO:0018401	Process	Peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IDA	12039559
GO:0019826	Function	Oxygen sensor activity	IDA	11595184
GO:0030520	Process	Estrogen receptor signaling pathway	NAS	11850811
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, 12039559
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	IMP	19587290
GO:0045454	Process	Cell redox homeostasis	IDA	11595184
GO:0045732	Process	Positive regulation of protein catabolic process	IDA	11595184
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

Other IDs

• MIM: 606424
• HGNC: 14660
• e!Ensembl: ENSG00000269858

Protein

• UniProt ID: Q96KS0
• Protein name: Prolyl hydroxylase EGLN2 (EC 1.14.11.-) (Egl nine homolog 2) (EC 1.14.11.29) (Estrogen-induced tag 6) (EIT-6) (HPH-3) (Hypoxia-inducible factor prolyl hydroxylase 1) (HIF-PH1) (HIF-prolyl hydroxylase 1) (HPH-1) (Prolyl hydroxylase domain-containing protei
• Protein function: Prolyl hydroxylase that mediates hydroxylation of proline residues in target proteins, such as ATF4, IKBKB, CEP192 and HIF1A (PubMed:11595184, PubMed:12039559, PubMed:15925519, PubMed:16509823, PubMed:17114296, PubMed:23932902). Target proteins
• PDB: 5V1B
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13640	2OG-FeII_Oxy_3	282 → 375	2OG-Fe(II) oxygenase superfamily	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in adult and fetal heart, brain, liver, lung, skeletal muscle, and kidney. Also expressed in testis and placenta. Highest levels in adult brain, placenta, lung, kidney, and testis. Expressed in hormone responsive tissues, inc
• Sequence:

  MDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLPCPLLPSYHCPGVPSEASAG
  SGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRK
  WAEDGGDAPSPSKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALD
  YIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRDGQLVSQRAIPPRSIRGDQI
  AWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKAMVACYPGNGLGYVRHVDN
  PHGDGRCITCIYYLNQNWDVKVHGGLLQIFPEGRPVVANIEPLFDRLLIFWSDRRNPHEV
  KPAYATRYAITVWYFDAKERAAAKDKYQLASGQKGVQVPVSQPPTPT

• Sequence length: 407

Pathways

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

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
EGLN2-related disorder	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (65)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30665327		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	20959442, 25263965		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	27912196		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	19066215		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27504588		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19878873, 21877141, 26492917, 29693343		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21291529, 26492917, 29693343, 32558530	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24894671	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	17717605	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24045616, 24935227, 30073577, 30665327		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	39647834	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	23936167, 24045616, 25609945, 29092026		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	20600011, 27981571		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28218358		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24195777, 28218358, 36976352	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20959442, 20978146		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	20600011		★☆☆☆☆ Found in Text Mining only
Erythrocytosis familial, 1	Erythrocytosis	GENOMICS_ENGLAND_DG	22274579		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28539891, 29899699, 30248340		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	36450729	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18600258		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	19878873		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	26492917	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Paraganglioma-Pheochromocytoma Syndrome	Hereditary Paraganglioma-Pheochromocytoma Syndromes	CLINGEN_DG	25263965		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	BEFREE	26254182, 28079055		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	14984367	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	17114296, 21297970, 24045616, 26492917, 29534684	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	20600011, 29435987, 31377947		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36495919	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	21877141		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	21670200		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	24498427	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24045616, 30665327	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19878873, 21877141, 26492917, 29693343		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	19581925		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24045616, 24935227, 30073577, 30665327		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29476053		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28089830		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24517638		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19878873, 21877141, 23026137, 24935227, 29435987, 29693343, 31414584		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	31517438		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30843652		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14695194, 16324198, 20978146, 21877141, 24935227, 28036276, 28089830		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24894671, 30665327, 31177178		★☆☆☆☆ Found in Text Mining only
Oncocytoma, renal	Oncocytoma of kidney	BEFREE	18773095		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36771407	Associate	★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	LHGDN	18773095		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29476053		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	25263965		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	27659016	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	20959442, 25263965		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	28336782	Associate	★☆☆☆☆ Found in Text Mining only
Pili torti-deafness syndrome	Pili Torti-Deafness Syndrome	BEFREE	18600258		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	BEFREE	25263965		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	27651169	Associate	★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	26084028		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28089830		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32458625	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	23936167, 24045616, 24498427, 25609945, 29092026	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	19581925		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20959442, 20978146		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24517638		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24517638	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28036276, 31729379		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	27981571, 31618435		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

EGLN3 3 shared pathwaysHIF-1 signaling pathway, Renal cell carcinoma, Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Related via 3 shared pathways including HIF-1 signaling pathway, Renal cell carcinoma. EGLN1 3 shared pathwaysHIF-1 signaling pathway, Renal cell carcinoma, Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Related via 3 shared pathways including HIF-1 signaling pathway, Renal cell carcinoma. CUL2 3 shared pathwaysHIF-1 signaling pathway, Renal cell carcinoma, Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Related via 3 shared pathways including HIF-1 signaling pathway, Renal cell carcinoma. VHL 3 shared pathwaysHIF-1 signaling pathway, Renal cell carcinoma, Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Related via 3 shared pathways including HIF-1 signaling pathway, Renal cell carcinoma. EPAS1 3 shared pathwaysHIF-1 signaling pathway, Renal cell carcinoma, Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Related via 3 shared pathways including HIF-1 signaling pathway, Renal cell carcinoma.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
EGLN3	0	[]	3	["HIF-1 signaling pathway","Renal cell carcinoma","Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha"]	0	[]
EGLN1	0	[]	3	["HIF-1 signaling pathway","Renal cell carcinoma","Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha"]	0	[]
CUL2	0	[]	3	["HIF-1 signaling pathway","Renal cell carcinoma","Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha"]	0	[]
VHL	0	[]	3	["HIF-1 signaling pathway","Renal cell carcinoma","Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha"]	0	[]
EPAS1	0	[]	3	["HIF-1 signaling pathway","Renal cell carcinoma","Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha"]	0	[]

Diseases Linked via Similar Genes

Secondary polycythemia Linked via 3 of 5 related genesEGLN1, VHL, EPAS1 Erythrocytosis Linked via 3 of 5 related genesEGLN1, VHL, EPAS1 Polycythemia Linked via 3 of 5 related genesEGLN1, VHL, EPAS1 Alzheimer disease Linked via 2 of 5 related genesEGLN3, CUL2 Renal cell carcinoma Linked via 2 of 5 related genesVHL, EPAS1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Secondary polycythemia	3	["EGLN1","VHL","EPAS1"]
Erythrocytosis	3	["EGLN1","VHL","EPAS1"]
Polycythemia	3	["EGLN1","VHL","EPAS1"]
Alzheimer disease	2	["EGLN3","CUL2"]
Renal cell carcinoma	2	["VHL","EPAS1"]