Gene table of EPOR : erythropoietin receptor

Gene-disease associations table

Disease ID	Disease name	Source of annotation with EPOR	OMIM link	Number of associated genes	genes
133180	ERYTHROLEUKEMIA, FAMILIAL	ClinVar	link to OMIM	1	EPOR
PS133100	ERYTHROCYTOSIS, FAMILIAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	6	VHL, EPAS1, JAK2, SH2B3, EPOR, EGLN1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Jak-STAT signaling pathway	hsa04630	5.44
Hematopoietic cell lineage	hsa04640	6.18
Cytokine-cytokine receptor interaction	hsa04060	4.67
PI3K-Akt signaling pathway	hsa04151	4.21

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
signaling receptor activity	GO:0038023	2.49
protein binding	GO:0005515	0.46
cytokine receptor activity	GO:0004896	5.24
molecular transducer activity	GO:0060089	2.32
transmembrane signaling receptor activity	GO:0004888	2.57
receptor activity	GO:0004872	2.32
signal transducer activity	GO:0004871	2.28
erythropoietin receptor activity	GO:0004900	9.74
transmembrane receptor activity	GO:0099600	2.53
identical protein binding	GO:0042802	2.63
binding	GO:0005488	0.18