EPOR (erythropoietin receptor)

Gene

• Entrez ID: 2057
• Gene name: Erythropoietin receptor
• Gene symbol: EPOR
• Synonyms (NCBI Gene): EPO-R
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs62638745	T>C,G	Benign, likely-benign, affects, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs121917830	C>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs121917831	G>A,C	Affects	Stop gained, coding sequence variant, non coding transcript variant, synonymous variant
rs121918116	C>T	Affects, pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs370865377	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1555716041	AGCTGGG>-	Affects	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555716045	->C	Affects	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555716047	->A	Affects	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555716523	->GGCCGCTCTCGTCAGCC	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018029	hsa-miR-335-5p	Microarray	18185580
MIRT438152	hsa-miR-125b-5p	Luciferase reporter assay	24165569
MIRT438152	hsa-miR-125b-5p	Luciferase reporter assay	24165569
MIRT438152	hsa-miR-125b-5p	Luciferase reporter assay	24165569
MIRT438152	hsa-miR-125b-5p	Luciferase reporter assay	24165569
MIRT438152	hsa-miR-125b-5p	Luciferase reporter assay	24165569
MIRT438152	hsa-miR-125b-5p	Luciferase reporter assay	24165569
MIRT438152	hsa-miR-125b-5p	Luciferase reporter assay	24165569
MIRT438152	hsa-miR-125b-5p	Luciferase reporter assay	24165569
MIRT514236	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT514235	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT514234	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT514233	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT514232	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT514231	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT616984	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT616983	hsa-miR-4530	HITS-CLIP	23824327
MIRT616982	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT616981	hsa-miR-4763-5p	HITS-CLIP	23824327
MIRT616980	hsa-miR-6894-3p	HITS-CLIP	23824327
MIRT616979	hsa-miR-4642	HITS-CLIP	23824327
MIRT514236	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT514235	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT514234	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT514233	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT514232	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT514231	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT514236	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT514235	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT514234	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT514233	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT514232	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT514231	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT514236	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT514235	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT514234	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT514233	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT514232	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT514231	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT514236	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT514235	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT514234	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT514233	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT514232	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT514231	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT616984	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT616983	hsa-miR-4530	HITS-CLIP	23824327
MIRT616982	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT616981	hsa-miR-4763-5p	HITS-CLIP	23824327
MIRT616980	hsa-miR-6894-3p	HITS-CLIP	23824327
MIRT616979	hsa-miR-4642	HITS-CLIP	23824327
MIRT514236	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT514235	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT514234	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT514233	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT514232	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT514231	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT514236	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT514235	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT514234	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT514233	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT514232	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT514231	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT514236	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT514235	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT514234	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT514233	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT514232	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT514231	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT755731	hsa-miR-144-5p	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR, Immunohistochemistry (IHC), Flow cytometry	36763178
MIRT967182	hsa-miR-1179	CLIP-seq
MIRT967183	hsa-miR-1200	CLIP-seq
MIRT967184	hsa-miR-1258	CLIP-seq
MIRT967185	hsa-miR-185	CLIP-seq
MIRT967186	hsa-miR-188-5p	CLIP-seq
MIRT967187	hsa-miR-1915	CLIP-seq
MIRT967188	hsa-miR-3160-3p	CLIP-seq
MIRT967189	hsa-miR-339-5p	CLIP-seq
MIRT967190	hsa-miR-3678-3p	CLIP-seq
MIRT967191	hsa-miR-3942-3p	CLIP-seq
MIRT967192	hsa-miR-4266	CLIP-seq
MIRT967193	hsa-miR-4267	CLIP-seq
MIRT967194	hsa-miR-4306	CLIP-seq
MIRT967195	hsa-miR-4324	CLIP-seq
MIRT967196	hsa-miR-4424	CLIP-seq
MIRT967197	hsa-miR-4427	CLIP-seq
MIRT967198	hsa-miR-4463	CLIP-seq
MIRT967199	hsa-miR-4487	CLIP-seq
MIRT967200	hsa-miR-4494	CLIP-seq
MIRT967201	hsa-miR-4511	CLIP-seq
MIRT967202	hsa-miR-4539	CLIP-seq
MIRT967203	hsa-miR-4644	CLIP-seq
MIRT967204	hsa-miR-4680-3p	CLIP-seq
MIRT967205	hsa-miR-4682	CLIP-seq
MIRT967206	hsa-miR-544b	CLIP-seq
MIRT967207	hsa-miR-558	CLIP-seq
MIRT967208	hsa-miR-587	CLIP-seq
MIRT967209	hsa-miR-7	CLIP-seq
MIRT1986518	hsa-miR-1279	CLIP-seq
MIRT1986519	hsa-miR-3166	CLIP-seq
MIRT2221052	hsa-miR-1246	CLIP-seq
MIRT2221053	hsa-miR-3134	CLIP-seq
MIRT967198	hsa-miR-4463	CLIP-seq
MIRT967200	hsa-miR-4494	CLIP-seq
MIRT967202	hsa-miR-4539	CLIP-seq
MIRT967209	hsa-miR-7	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GATA1	Activation	16471262
GATA1	Unknown	23577103;7659529;8513868
GATA3	Unknown	23577103
SP1	Repression	8521844
SP1	Unknown	23577103;7659529
TAL1	Unknown	22982397

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004896	Function	Cytokine receptor activity	IEA
GO:0004900	Function	Erythropoietin receptor activity	IBA
GO:0004900	Function	Erythropoietin receptor activity	IDA	2163696, 9774108
GO:0004900	Function	Erythropoietin receptor activity	IEA
GO:0004900	Function	Erythropoietin receptor activity	TAS	8506290
GO:0005515	Function	Protein binding	IPI	7228577, 7528537, 7528577, 9774108, 11781573, 11784712, 14527337, 15644415, 25092874, 26481148, 29997244
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1848667
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	NAS	1668606
GO:0007420	Process	Brain development	IEA
GO:0007507	Process	Heart development	IEA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0038162	Process	Erythropoietin-mediated signaling pathway	IBA
GO:0038162	Process	Erythropoietin-mediated signaling pathway	IDA	9657743
GO:0038162	Process	Erythropoietin-mediated signaling pathway	IDA	2163696, 9774108
GO:0038162	Process	Erythropoietin-mediated signaling pathway	IEA
GO:0042802	Function	Identical protein binding	IPI	16116438, 21058338
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	11781573, 34518685
GO:0046697	Process	Decidualization	IEA

Other IDs

• MIM: 133171
• HGNC: 3416
• e!Ensembl: ENSG00000187266

Protein

• UniProt ID: P19235
• Protein name: Erythropoietin receptor (EPO-R)
• Protein function: Receptor for erythropoietin, which mediates erythropoietin-induced erythroblast proliferation and differentiation (PubMed:10388848, PubMed:2163695, PubMed:2163696, PubMed:8662939, PubMed:9774108). Upon EPO stimulation, EPOR dimerizes triggering
• PDB: 1CN4, 1EBA, 1EBP, 1EER, 1ERN, 2JIX, 2MV6, 4Y5V, 4Y5X, 4Y5Y, 6E2Q, 6I4X, 6MOE, 6MOF, 6MOH, 6MOI, 6MOJ, 6MOK, 6MOL, 8VUI, 8VVM, 8VVO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09067	EpoR_lig-bind	37 → 140	Erythropoietin receptor, ligand binding	Domain
  PF00041	fn3	146 → 232	Fibronectin type III domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Erythroid cells and erythroid progenitor cells. {ECO:0000269|PubMed:2163696}.; TISSUE SPECIFICITY: [Isoform EPOR-F]: Isoform EPOR-F is the most abundant form in EPO-dependent erythroleukemia cells and in late-stage erythroid progenitor
• Sequence:

  MDHLGASLWPQVGSLCLLLAGAAWAPPPNLPDPKFESKAALLAARGPEELLCFTERLEDL
  VCFWEEAASAGVGPGNYSFSYQLEDEPWKLCRLHQAPTARGAVRFWCSLPTADTSSFVPL
  ELRVTAASGAPRYHRVIHINEVVLLDAPVGLVARLADESGHVVLRWLPPPETPMTSHIRY
  EVDVSAGNGAGSVQRVEILEGRTECVLSNLRGRTRYTFAVRARMAEPSFGGFWSAWSEPV
  SLLTPSDLDPLILTLSLILVVILVLLTVLALLSHRRALKQKIWPGIPSPESEFEGLFTTH
  KGNFQLWLYQNDGCLWWSPCTPFTEDPPASLEVLSERCWGTMQAVEPGTDDEGPLLEPVG
  SEHAQDTYLVLDKWLLPRNPPSEDLPGPGGSVDIVAMDEGSEASSCSSALASKPSPEGAS
  AASFEYTILDPSSQLLRPWTLCPELPPTPPHLKYLYLVVSDSGISTDYSSGDSQGAQGGL
  SDGPYSNPYENSLIPAAEPLPPSYVACS

• Sequence length: 508

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Hormone signaling
Efferocytosis
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Hematopoietic cell lineage
Pathways in cancer

Reactome:

Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
Erythropoietin activates RAS

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
Acute megakaryoblastic leukemia without down syndrome	Likely pathogenic	rs121917830	RCV001293750	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial polycythemia due to EPO receptor mutation	Likely pathogenic; Pathogenic	rs121917830, rs121918116	RCV000258849 RCV000018065	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPOR-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROCYTOSIS FAMILIAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROCYTOSIS, FAMILIAL, 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial erythrocytosis	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability-hypotonic facies syndrome, X-linked, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYTHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY FAMILIAL POLYCYTHEMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acoustic Neuroma	Acoustic Neuroma	BEFREE	17429338		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	11850847, 1314735, 19584401, 7803793, 8142650, 9808054		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	LHGDN	18059484		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	19010836, 26859458, 27544511, 29029492		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	9207443		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	24155958		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24155958		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	17045782		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	26859458, 29029492		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	22982397		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	18349818, 29070774, 29374477, 31770451		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	Pubtator	19536148, 26854437	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	17637760		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	20336349, 21749867		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12118093, 19133231, 23117856, 24502950, 26489695, 28352153, 28714517, 31291309, 31322257		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	19706814		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12209679, 15160341, 17597020, 19133231, 19706814, 20164027, 20189893, 24165569, 24502950, 26854437, 27629849	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	16627979, 22025882, 30915348	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	17394495, 23496059, 26097591	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	17201175	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27494133		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	16627979, 19407488, 27468719, 40332447	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	16681756, 30915348	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	18407263, 28137221		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	14525776, 21900195, 26859458, 29029492		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	23052842		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28137221, 29374477, 30108502, 31526861, 31770451		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	22262773, 23157224		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19846965, 24497137	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15709172, 23305401, 24583149, 27468719		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	LHGDN	15709172		★☆☆☆☆ Found in Text Mining only
Cystathionine beta-Synthase Deficiency Disease	Cystathionine Beta-Synthase Deficiency Disease	BEFREE	31551410		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29223734, 30401898		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29223734, 30401898		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26643367, 29474958		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	20122829		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	15160341		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	15160341, 19779103	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	12525458		★☆☆☆☆ Found in Text Mining only
Erythrocytosis Familial 2	Erythrocytosis	Pubtator	8506290	Associate	★☆☆☆☆ Found in Text Mining only
Erythrocytosis familial, 1	Erythrocytosis	BEFREE	10498627, 11559951, 15878737, 17488692, 24482100, 24533580, 29790589, 7819104, 9121771, 9192789, 9488636, 9923445		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrocytosis familial, 1	Erythrocytosis	GENOMICS_ENGLAND_DG	11929803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrocytosis familial, 1	Erythrocytosis	CLINVAR_DG	17488692, 8506290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrocytosis familial, 1	Erythrocytosis	UNIPROT_DG	8506290, 8608241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrocytosis familial, 1	Erythrocytosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial erythrocytosis	Erythrocytosis	BEFREE	10498627, 17488692, 7819104, 9121771, 9192789, 9359528, 9488636, 9923445		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial erythrocytosis	Erythrocytosis	ORPHANET_DG	9192789, 9359528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	24379112		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21749867, 25544764, 26489695		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	17522145	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	LHGDN	15671524		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	15967106	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	26044615	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	14563949		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	14563949	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	12209679	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29109360		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19621008		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	12209679, 15160341, 15967106, 18508787, 31752873, 40332447	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	16310037, 18283323, 20164027, 24497137, 27468719, 27581518, 29534684, 31417010	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29474958		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	29474958		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	15160341	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29187371, 29395333, 30414800		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	12612986, 20528849		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	33545970	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	11999556, 19010836		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19010836, 20656931, 9753066, 9808054		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	24761846, 26859458, 35839275	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35839275, 37663284	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23496059, 29238266		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27494133	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	12209679, 15160341	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12118093, 19133231, 23117856, 24502950, 28352153, 28714517, 31291309, 31322257		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	19706814		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27494133		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15467711, 31417010		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11325818, 12878211, 17038666, 17110616, 18349818, 18431543, 24155958, 24583149, 30622244, 31322257, 31402953, 31749871, 8608241		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	19706814		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12118093, 19133231		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	19706814		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21508364		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	19706814		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	20336349		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15743794, 19536148	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	19536148, 21860424, 24489649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	21860424		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	LHGDN	17922127		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	23881169		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	23881169		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	27581518	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	11999556		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	8642863, 8709617		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	10029161, 9057652	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	LHGDN	15572213		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	27998978		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	22262773	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	27629849	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12419827, 14563949, 15467711, 18084619, 18349818, 18781955, 19133231, 19264915, 21749867, 22639817, 24155958, 26412593, 29140573, 30576679, 31749871		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17045782		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	17394500	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15709164, 17038666, 17110616, 24155958		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	17893874		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30606107	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	LHGDN	18250608		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	17488692	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	LHGDN	15769989		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	17045782		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	10498627, 18492694, 22982397, 36054916, 7795221, 8506290, 8608241, 9488636, 9649565	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia	Polycythemia	BEFREE	15878737, 19584401, 20700488, 21437635, 22253704, 24533580, 26706855, 26859458, 29269524, 8423798, 8608241, 9292543, 9649565		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia	Polycythemia	LHGDN	15878737, 16608505		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia	Polycythemia	CTD_human_DG	16484586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia	Polycythemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia primary familial and congenital	Polycythemia, primary familial and congenital	Pubtator	10498627, 17488692, 24533580, 26859458, 7795221, 9292543, 9359528, 9488636, 9649565	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	12829587, 18006699, 18059484, 19264517, 21953826, 7819104, 9121771, 9207443		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	18006699, 19264517, 21953826, 8081000, 9649565	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	9207443	Inhibit	★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	24030742		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	24030742		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	19010836, 26859458, 27544511		★☆☆☆☆ Found in Text Mining only
Primary familial polycythemia	Polycythemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Myelofibrosis	Myelofibrosis	BEFREE	18006699		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15467711, 17637760, 31417010		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	17637760		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15467711		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19567780, 31417010	Associate	★☆☆☆☆ Found in Text Mining only
Refractory anemia with ringed sideroblasts	Anemia With Ringed Sideroblasts	BEFREE	8709617		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15709172, 23028796, 23305401, 24583149		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	16627979		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	26412593		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	26412593	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	26412593	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	16278379		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22639817		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22639817	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33545970	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	31379495		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19002606, 22025882, 24838641	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	18006699, 27067977		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CTD_human_DG	16699298		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	CTD_human_DG	16699298		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	16699298		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CTD_human_DG	16699298		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31749871		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	17938574	Associate	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	15709172, 26846855		★☆☆☆☆ Found in Text Mining only