Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	2056
Gene name	Erythropoietin
Gene symbol	EPO
Synonyms (NCBI Gene)	DBALECYT5EPMVCD2
Chromosome	7
Chromosome location	7q22.1
Summary	This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the erythropoietin receptor to promote red blood cell product

SNP ID	Visualize variation	Clinical significance	Consequence
rs1617640	C>A,G,T	Risk-factor	Upstream transcript variant
rs1358275550	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554393458	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554393463	G>-	Pathogenic	Coding sequence variant, frameshift variant

62 Show/Hide all (62)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022112	hsa-miR-125b-5p	Other	20194440
MIRT022112	hsa-miR-125b-5p	Luciferase reporter assay	24165569
MIRT022112	hsa-miR-125b-5p	Luciferase reporter assay	24165569
MIRT022112	hsa-miR-125b-5p	Luciferase reporter assay	24165569
MIRT022112	hsa-miR-125b-5p	Luciferase reporter assay	24165569
MIRT022112	hsa-miR-125b-5p	Luciferase reporter assay	24165569
MIRT022112	hsa-miR-125b-5p	Luciferase reporter assay	24165569
MIRT022112	hsa-miR-125b-5p	Luciferase reporter assay	24165569
MIRT022112	hsa-miR-125b-5p	Luciferase reporter assay	24165569
MIRT755730	hsa-miR-144-5p	Luciferase reporter assayWestern blottingMicroarrayqRT-PCRImmunohistochemistry (IHC)Flow cytometry	36763178
MIRT967163	hsa-miR-125a-5p	CLIP-seq
MIRT967164	hsa-miR-125b	CLIP-seq
MIRT967165	hsa-miR-1323	CLIP-seq
MIRT967166	hsa-miR-3185	CLIP-seq
MIRT967167	hsa-miR-338-3p	CLIP-seq
MIRT967168	hsa-miR-4319	CLIP-seq
MIRT967169	hsa-miR-4421	CLIP-seq
MIRT967170	hsa-miR-4535	CLIP-seq
MIRT967171	hsa-miR-4682	CLIP-seq
MIRT967172	hsa-miR-4709-3p	CLIP-seq
MIRT967173	hsa-miR-4731-3p	CLIP-seq
MIRT967174	hsa-miR-4732-3p	CLIP-seq
MIRT967175	hsa-miR-4776-5p	CLIP-seq
MIRT967176	hsa-miR-4793-5p	CLIP-seq
MIRT967177	hsa-miR-4801	CLIP-seq
MIRT967178	hsa-miR-548o	CLIP-seq
MIRT967179	hsa-miR-670	CLIP-seq
MIRT967180	hsa-miR-760	CLIP-seq
MIRT967181	hsa-miR-890	CLIP-seq
MIRT1986500	hsa-miR-3176	CLIP-seq
MIRT1986501	hsa-miR-326	CLIP-seq
MIRT1986502	hsa-miR-330-5p	CLIP-seq
MIRT1986503	hsa-miR-3655	CLIP-seq
MIRT1986504	hsa-miR-378	CLIP-seq
MIRT1986505	hsa-miR-378b	CLIP-seq
MIRT1986506	hsa-miR-378c	CLIP-seq
MIRT1986507	hsa-miR-378d	CLIP-seq
MIRT1986508	hsa-miR-378e	CLIP-seq
MIRT1986509	hsa-miR-378f	CLIP-seq
MIRT1986510	hsa-miR-378h	CLIP-seq
MIRT1986511	hsa-miR-378i	CLIP-seq
MIRT1986512	hsa-miR-3922-3p	CLIP-seq
MIRT1986513	hsa-miR-422a	CLIP-seq
MIRT1986514	hsa-miR-4326	CLIP-seq
MIRT1986515	hsa-miR-4520a-3p	CLIP-seq
MIRT1986516	hsa-miR-4638-3p	CLIP-seq
MIRT1986517	hsa-miR-578	CLIP-seq
MIRT2221039	hsa-miR-1285	CLIP-seq
MIRT2221040	hsa-miR-2115	CLIP-seq
MIRT2221041	hsa-miR-296-5p	CLIP-seq
MIRT2221042	hsa-miR-3074-5p	CLIP-seq
MIRT2221043	hsa-miR-3187-5p	CLIP-seq
MIRT2221044	hsa-miR-3194-3p	CLIP-seq
MIRT2221045	hsa-miR-3194-5p	CLIP-seq
MIRT1986501	hsa-miR-326	CLIP-seq
MIRT1986502	hsa-miR-330-5p	CLIP-seq
MIRT2221046	hsa-miR-370	CLIP-seq
MIRT2221047	hsa-miR-378g	CLIP-seq
MIRT2221048	hsa-miR-3943	CLIP-seq
MIRT2221049	hsa-miR-4486	CLIP-seq
MIRT2221050	hsa-miR-516a-3p	CLIP-seq
MIRT2221051	hsa-miR-612	CLIP-seq

13 Show/Hide all (13)

Transcription factor	Regulation	Reference
ARNT	Activation	8663540
EP300	Activation	20368990
GATA1	Activation	16471262
GATA1	Repression	8677751
GATA2	Repression	8677751
GATA3	Repression	8677751
HIF1A	Activation	8089148;8663540
HIF1A	Unknown	16281953
NCOA1	Activation	20368990
NCOA3	Activation	20368990
SMAD3	Unknown	14741200
SMAD4	Unknown	14741200
SP1	Activation	14741200

68 Show/Hide all (68)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	16497104
GO:0001666	Process	Response to hypoxia	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IDA	9774108, 28283061
GO:0005128	Function	Erythropoietin receptor binding	IBA
GO:0005128	Function	Erythropoietin receptor binding	IEA
GO:0005128	Function	Erythropoietin receptor binding	IMP	28283061
GO:0005179	Function	Hormone activity	IBA
GO:0005179	Function	Hormone activity	IDA	9722506
GO:0005179	Function	Hormone activity	IEA
GO:0005515	Function	Protein binding	IPI	9774108, 26481148, 29997244, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	32989016
GO:0005615	Component	Extracellular space	IDA	14569084
GO:0005615	Component	Extracellular space	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006950	Process	Response to stress	IEA
GO:0006953	Process	Acute-phase response	IEA
GO:0007165	Process	Signal transduction	NAS	3838366
GO:0007566	Process	Embryo implantation	IEA
GO:0007584	Process	Response to nutrient	IEA
GO:0008015	Process	Blood circulation	NAS	3838366
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	9722506
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009651	Process	Response to salt stress	IEA
GO:0009986	Component	Cell surface	IDA	14569084
GO:0010523	Process	Negative regulation of calcium ion transport into cytosol	IDA	14569084
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0030218	Process	Erythrocyte differentiation	IBA
GO:0030218	Process	Erythrocyte differentiation	IDA	15084469
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	IMP	28283061
GO:0030295	Function	Protein kinase activator activity	IBA
GO:0030295	Function	Protein kinase activator activity	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0033028	Process	Myeloid cell apoptotic process	IEA
GO:0033033	Process	Negative regulation of myeloid cell apoptotic process	IEA
GO:0033189	Process	Response to vitamin A	IEA
GO:0033574	Process	Response to testosterone	IEA
GO:0038162	Process	Erythropoietin-mediated signaling pathway	IBA
GO:0038162	Process	Erythropoietin-mediated signaling pathway	IDA	2163696, 9657743
GO:0038162	Process	Erythropoietin-mediated signaling pathway	IDA	9722506, 9774108
GO:0038162	Process	Erythropoietin-mediated signaling pathway	IMP	28283061
GO:0042104	Process	Positive regulation of activated T cell proliferation	IEA
GO:0042541	Process	Hemoglobin biosynthetic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	11781573, 34518685
GO:0043249	Process	Erythrocyte maturation	IEA
GO:0043627	Process	Response to estrogen	IEA
GO:0044297	Component	Cell body	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	9722506
GO:0046579	Process	Positive regulation of Ras protein signal transduction	IDA	9722506
GO:0048678	Process	Response to axon injury	IEA
GO:0051602	Process	Response to electrical stimulus	IEA
GO:0055093	Process	Response to hyperoxia	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070555	Process	Response to interleukin-1	IEA
GO:0071474	Process	Cellular hyperosmotic response	IDA	14569084
GO:0071548	Process	Response to dexamethasone	IEA
GO:0097696	Process	Cell surface receptor signaling pathway via STAT	IBA
GO:0097696	Process	Cell surface receptor signaling pathway via STAT	IDA	9722506
GO:1902219	Process	Negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress	IDA	14569084
GO:1902251	Process	Negative regulation of erythrocyte apoptotic process	IDA	14569084

MIM	HGNC	e!Ensembl
133170	3415	ENSG00000130427

P01588

Protein name

Erythropoietin (Epoetin)

Protein function

Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass (PubMed:28283061). Binds to EPOR leading to EPOR dimerization and JAK2 activation th

PDB

1BUY , 1CN4 , 1EER

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00758	EPO_TPO	31 → 192	Erythropoietin/thrombopoietin	Domain

Tissue specificity

TISSUE SPECIFICITY: Produced by kidney or liver of adult mammals and by liver of fetal or neonatal mammals. {ECO:0000269|PubMed:3865178}.

Sequence

MGVHECPAWLWLLLSLLSLPLGLPVLGAPPRLICDSRVLERYLLEAKEAENITTGCAEHC
SLNENITVPDTKVNFYAWKRMEVGQQAVEVWQGLALLSEAVLRGQALLVNSSQPWEPLQL
HVDKAVSGLRSLTTLLRALGAQKEAISPPDAASAAPLRTITADTFRKLFRVYSNFLRGKL
KLYTGEACRTGDR

Sequence length

193

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Cytokine-cytokine receptor interaction	Regulation of gene expression by Hypoxia-inducible Factor
HIF-1 signaling pathway	Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
Hormone signaling	Erythropoietin activates RAS
Efferocytosis
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Hematopoietic cell lineage
Pathways in cancer

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Diamond-Blackfan anemia-like	Pathogenic	rs1358275550	RCV000590853	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Erythrocytosis, familial, 5	Pathogenic	rs1554393463, rs1554393458	RCV000590858 RCV000590862	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (68)
ALZHEIMERS DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	10506726, 10713657, 11245434, 11273875, 11454181, 11569724, 11828949, 11981781, 12670280, 12713065, 12820454, 12897097, 12899718, 14568602, 14706663, 15160343, 1516988, 15232364, 15660393, 1574960, 16434484, 16511603, 16637862, 16707910, 16798232, 1694946	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC	—	CTD, Disgenet CTD, Disgenet	10733367, 16629641, 20446436	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SECONDARY POLYCYTHEMIA	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	29514032, 29514032	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA THALASSEMIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-THALASSEMIA	—	CTD	16225658	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INJURIES	—	CTD	20833152	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCINOSIS	—	CTD	12148126	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	16449733, 16731534, 17924179, 17928571	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM DISEASES	—	CTD	15816862	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	20833152	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD	25245553	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	23128233, 37156999	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATIVE DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC ANGIOPATHIES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHIES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC PERIPHERAL ANGIOPATHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDERS OF PORPHYRIN METABOLISM	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPO-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC ULCER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	16707910	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART SEPTAL DEFECTS, VENTRICULAR	—	CTD	19337937	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYTIC-UREMIC SYNDROME	—	CTD, Disgenet CTD, Disgenet	12053072	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	10694834, 1516988	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	23128233, 36753304, 37156999	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	20606417, 32909846	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	CTD, Disgenet CTD, Disgenet	16707910	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	15743794	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microvascular complications of diabetes, susceptibility to, 2	risk factor	ClinVar CTD, ClinVar CTD, ClinVar	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYELODYSPLASTIC SYNDROMES	—	CTD	12670338, 16076383	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	19337937	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISEASES	—	CTD	15816862	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCYTOPENIA	—	CTD, Disgenet CTD, Disgenet	9051142	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARANEOPLASTIC SYNDROMES	—	CTD	10713657	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYTHEMIA	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYNEUROPATHIES	—	CTD	17010629	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYNEUROPATHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	26198764, 34380480, 35396580, 36753304, 39753749	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	16679645, 17166730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA	—	CTD, Disgenet CTD, Disgenet	8260696	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOSIS	—	CTD	14979412, 25013951	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	16699298	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT ISCHEMIC ATTACK	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	32541925, 38374256	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	23128233, 37156999	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UREMIA	—	CTD, Disgenet CTD, Disgenet	12675867	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	25013951	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOSIS	—	CTD	12670338, 17547733	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR FIBRILLATION	—	CTD, Disgenet CTD, Disgenet	18156309	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
EPOR	4	["Anemia","Erythrocytosis","Polycythemia","Thyroid neoplasms"]	7	["Cytokine-cytokine receptor interaction","Hormone signaling","Efferocytosis","JAK-STAT signaling pathway","Hematopoietic cell lineage","Erythropoietin activates RAS","Erythropoietin activates Phosphoinositide-3-kinase (PI3K)"]	5	["Disgenet (Anemia)","Disgenet (Erythrocytosis)","HPO (Erythrocytosis)","CTD (Melanoma)","CTD (Thyroid neoplasms)"]
CSF3	8	["Thrombocytopenia","Anemia","Brain injuries","Congestive heart failure","Delirium, dementia, and cognitive disorders","Heart disease","Pancytopenia","Transient ischemic attack"]	3	["Cytokine-cytokine receptor interaction","JAK-STAT signaling pathway","Hematopoietic cell lineage"]	17	["Disgenet (Anemia)","CTD (Anemia)","CTD (Brain injuries)","Disgenet (Kidney disease)","Disgenet (Congestive heart failure)","Disgenet (Delirium, dementia, and cognitive disorders)","Disgenet (Heart disease)","CTD (Heart disease)","Disgenet (Heart failure)","CTD (Kidney disease)","CTD (Melanoma)","Disgenet (Myocardial infarction)"]
THPO	2	["Thrombocytopenia","Cardiomyopathy"]	4	["Cytokine-cytokine receptor interaction","Hormone signaling","JAK-STAT signaling pathway","Hematopoietic cell lineage"]	3	["Disgenet (Cardiomyopathy)","CTD (Cardiomyopathy)","Disgenet (Thrombocytopenia)"]
LEPR	6	["Cardiomyopathy","Ischemic heart disease","Cognition disorder","Delirium, dementia, and cognitive disorders","Diabetic neuropathy","Kidney failure"]	3	["Cytokine-cytokine receptor interaction","Hormone signaling","JAK-STAT signaling pathway"]	11	["Disgenet (Cardiomyopathy)","CTD (Cardiomyopathy)","Disgenet (Ischemic heart disease)","Disgenet (Kidney disease)","CTD (Cognition disorder)","Disgenet (Coronary artery disease)","Disgenet (Delirium, dementia, and cognitive disorders)","Disgenet (Diabetic neuropathy)","CTD (Hypertension)","CTD (Kidney disease)","Disgenet (Kidney failure)"]
HMOX1	10	["Hemolytic anemia","Ischemic heart disease","Congestive heart failure","Degenerative disorder","Diabetic angiopathies","Diabetic peripheral angiopathy","Kidney failure","Neurodegenerative disorder","Status epilepticus","Thrombosis"]	1	["HIF-1 signaling pathway"]	20	["Disgenet (Alzheimer disease)","Disgenet (Hemolytic anemia)","CTD (Hemolytic anemia)","Disgenet (Parkinson disease)","Disgenet (Ischemic heart disease)","Disgenet (Congestive heart failure)","Disgenet (Coronary artery disease)","CTD (Coronary artery disease)","Disgenet (Degenerative disorder)","Disgenet (Diabetic angiopathies)","Disgenet (Diabetic peripheral angiopathy)","CTD (Hypertension)"]

EPO (erythropoietin)

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