• Gene id: 3091

Gene Summary

• Gene Symbol: HIF1A   Gene   UCSC   Ensembl
• Aliases: HIF-1-alpha, HIF-1A, HIF-1alpha, HIF1, HIF1-ALPHA, MOP1, PASD8, bHLHe78
• Gene name: hypoxia inducible factor 1 alpha subunit
• Alternate names: hypoxia-inducible factor 1-alpha, ARNT interacting protein, PAS domain-containing protein 8, basic-helix-loop-helix-PAS protein MOP1, class E basic helix-loop-helix protein 78, hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcriptio,
• Gene location: 14q23.2 (61695400: 61748258)     Exons: 16     NC_000014.9
• Gene summary(Entrez): This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia
• OMIM: 603348

Protein Summary

• Protein general information: Q16665  
  • Name: Hypoxia inducible factor 1 alpha (HIF 1 alpha) (HIF1 alpha) (ARNT interacting protein) (Basic helix loop helix PAS protein MOP1) (Class E basic helix loop helix protein 78) (bHLHe78) (Member of PAS protein 1) (PAS domain containing protein 8)
  • Length: 826  
  • Mass: 92,670
  • Tissue specificity: Plasma. Synthesized in the liver. Like the related alpha-1-antitrypsin, its concentration increases in the acute phase of inflammation or infection. Found in the amyloid plaques from the hippocampus of Alzheimer disease brains. {ECO
• Sequence:

  MEGAGGANDKKKISSERRKEKSRDAARSRRSKESEVFYELAHQLPLPHNVSSHLDKASVMRLTISYLRVRKLLDA
  GDLDIEDDMKAQMNCFYLKALDGFVMVLTDDGDMIYISDNVNKYMGLTQFELTGHSVFDFTHPCDHEEMREMLTH
  RNGLVKKGKEQNTQRSFFLRMKCTLTSRGRTMNIKSATWKVLHCTGHIHVYDTNSNQPQCGYKKPPMTCLVLICE
  PIPHPSNIEIPLDSKTFLSRHSLDMKFSYCDERITELMGYEPEELLGRSIYEYYHALDSDHLTKTHHDMFTKGQV
  TTGQYRMLAKRGGYVWVETQATVIYNTKNSQPQCIVCVNYVVSGIIQHDLIFSLQQTECVLKPVESSDMKMTQLF
  TKVESEDTSSLFDKLKKEPDALTLLAPAAGDTIISLDFGSNDTETDDQQLEEVPLYNDVMLPSPNEKLQNINLAM
  SPLPTAETPKPLRSSADPALNQEVALKLEPNPESLELSFTMPQIQDQTPSPSDGSTRQSSPEPNSPSEYCFYVDS
  DMVNEFKLELVEKLFAEDTEAKNPFSTQDTDLDLEMLAPYIPMDDDFQLRSFDQLSPLESSSASPESASPQSTVT
  VFQQTQIQEPTANATTTTATTDELKTVTKDRMEDIKILIASPSPTHIHKETTSATSSPYRDTQSRTASPNRAGKG
  VIEQTEKSHPRSPNVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQPDDHAATTSL
  SWKRVKGCKSSEQNGMEQKTIILIPSDLACRLLGQSMDESGLPQLTSYDCEVNAPIQGSRNLLQGEELLRALDQV
  N

• Structural information:
  • Protein Domains: bHLH. (17-70)
    PAS (85-158)
    PAS (228-298)
    PAC. (302-345)
  • Interpro: IPR011598  IPR001321  IPR014887  IPR021537  IPR036638   IPR001610  IPR000014  IPR035965  IPR013767  IPR013655  
  • Prosite: PS50888 PS50112
  • CDD: cd00083 cd00130
  • PDB: 1D7G 1H2K 1H2L 1H2M 1L3E 1L8C 1LM8 1LQB 2ILM 3HQR 3HQU 4AJY 4H6J 5JWP 5L9B 5L9V 5LA9 5LAS
  • PDBsum: 1D7G 1H2K 1H2L 1H2M 1L3E 1L8C 1LM8 1LQB 2ILM 3HQR 3HQU 4AJY 4H6J 5JWP 5L9B 5L9V 5LA9 5LAS
  • DIP: 29722
  • STRING: ENSP00000338018
• Other Databases: GeneCards:  HIF1A  Malacards:  HIF1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000989	transcription factor activity, transcription factor binding	IDA	molecular function
GO:0001076	transcription factor activity, RNA polymerase II transcription factor binding	IEA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IEA	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IMP	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001666	response to hypoxia	IMP	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001755	neural crest cell migration	IEA	biological process
GO:0001837	epithelial to mesenchymal transition	ISS	biological process
GO:0001892	embryonic placenta development	IEA	biological process
GO:0001922	B-1 B cell homeostasis	IEA	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IC	biological process
GO:0001947	heart looping	IEA	biological process
GO:0002052	positive regulation of neuroblast proliferation	IEA	biological process
GO:0002248	connective tissue replacement involved in inflammatory response wound healing	ISS	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0003208	cardiac ventricle morphogenesis	IEA	biological process
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005667	transcription factor complex	IPI	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006089	lactate metabolic process	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IMP	biological process
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0006953	acute-phase response	IEA	biological process
GO:0007165	signal transduction	IMP	biological process
GO:0007595	lactation	IEA	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008542	visual learning	IEA	biological process
GO:0009651	response to salt stress	IEA	biological process
GO:0010165	response to X-ray	IEA	biological process
GO:0010468	regulation of gene expression	IDA	biological process
GO:0010573	vascular endothelial growth factor production	IDA	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	IMP	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	IDA	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0010634	positive regulation of epithelial cell migration	ISS	biological process
GO:0010870	positive regulation of receptor biosynthetic process	IMP	biological process
GO:0010996	response to auditory stimulus	IEA	biological process
GO:0014074	response to purine-containing compound	IEA	biological process
GO:0014850	response to muscle activity	IEA	biological process
GO:0016607	nuclear speck	ISS	cellular component
GO:0019896	axonal transport of mitochondrion	IMP	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0021502	neural fold elevation formation	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0030502	negative regulation of bone mineralization	IEA	biological process
GO:0030949	positive regulation of vascular endothelial growth factor receptor signaling pathway	IC	biological process
GO:0030949	positive regulation of vascular endothelial growth factor receptor signaling pathway	IC	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0032007	negative regulation of TOR signaling	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032364	oxygen homeostasis	IDA	biological process
GO:0032403	protein complex binding	IEA	molecular function
GO:0032722	positive regulation of chemokine production	TAS	biological process
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0032909	regulation of transforming growth factor beta2 production	IMP	biological process
GO:0032963	collagen metabolic process	ISS	biological process
GO:0035035	histone acetyltransferase binding	IPI	molecular function
GO:0035162	embryonic hemopoiesis	IEA	biological process
GO:0035257	nuclear hormone receptor binding	IPI	molecular function
GO:0035690	cellular response to drug	IEA	biological process
GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA	biological process
GO:0042541	hemoglobin biosynthetic process	IEA	biological process
GO:0042789	mRNA transcription from RNA polymerase II promoter	IC	biological process
GO:0042826	histone deacetylase binding	IEA	molecular function
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0043279	response to alkaloid	IEA	biological process
GO:0043619	regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IDA	biological process
GO:0043619	regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IDA	biological process
GO:0045648	positive regulation of erythrocyte differentiation	IC	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0045766	positive regulation of angiogenesis	IC	biological process
GO:0045793	positive regulation of cell size	IEA	biological process
GO:0045821	positive regulation of glycolytic process	IC	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045906	negative regulation of vasoconstriction	IEA	biological process
GO:0045926	negative regulation of growth	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IGI	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IGI	biological process
GO:0046716	muscle cell cellular homeostasis	IEA	biological process
GO:0046886	positive regulation of hormone biosynthetic process	IDA	biological process
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0046982	protein heterodimerization activity	TAS	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0048546	digestive tract morphogenesis	IEA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0051000	positive regulation of nitric-oxide synthase activity	TAS	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0051541	elastin metabolic process	ISS	biological process
GO:0051879	Hsp90 protein binding	IDA	molecular function
GO:0060135	maternal process involved in female pregnancy	IEA	biological process
GO:0060574	intestinal epithelial cell maturation	IEA	biological process
GO:0060992	response to fungicide	IEA	biological process
GO:0061030	epithelial cell differentiation involved in mammary gland alveolus development	IEA	biological process
GO:0061072	iris morphogenesis	IEA	biological process
GO:0061298	retina vasculature development in camera-type eye	IEA	biological process
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS	biological process
GO:0061419	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IMP	biological process
GO:0061419	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IDA	biological process
GO:0061419	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IMP	biological process
GO:0070101	positive regulation of chemokine-mediated signaling pathway	IC	biological process
GO:0070244	negative regulation of thymocyte apoptotic process	IEA	biological process
GO:0070301	cellular response to hydrogen peroxide	IEA	biological process
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0071245	cellular response to carbon monoxide	IEA	biological process
GO:0071250	cellular response to nitrite	IEA	biological process
GO:0071257	cellular response to electrical stimulus	IEA	biological process
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:0071279	cellular response to cobalt ion	IEA	biological process
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0071347	cellular response to interleukin-1	IEP	biological process
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0071456	cellular response to hypoxia	IDA	biological process
GO:0071456	cellular response to hypoxia	IDA	biological process
GO:0071456	cellular response to hypoxia	IEP	biological process
GO:0071456	cellular response to hypoxia	IDA	biological process
GO:0071482	cellular response to light stimulus	IEA	biological process
GO:0071542	dopaminergic neuron differentiation	IEA	biological process
GO:0072347	response to anesthetic	IEA	biological process
GO:0090575	RNA polymerase II transcription factor complex	IDA	cellular component
GO:0090575	RNA polymerase II transcription factor complex	IDA	cellular component
GO:0097237	cellular response to toxic substance	IEA	biological process
GO:0097411	hypoxia-inducible factor-1alpha signaling pathway	IEA	biological process
GO:1900037	regulation of cellular response to hypoxia	IEA	biological process
GO:1902895	positive regulation of pri-miRNA transcription from RNA polymerase II promoter	IMP	biological process
GO:1903377	negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA	biological process
GO:1903599	positive regulation of mitophagy	IEA	biological process
GO:1903715	regulation of aerobic respiration	IEA	biological process
GO:1903928	cellular response to cyanide	IEA	biological process
GO:1904115	axon cytoplasm	IEA	cellular component
GO:2000378	negative regulation of reactive oxygen species metabolic process	IEA	biological process
GO:2001054	negative regulation of mesenchymal cell apoptotic process	IEA	biological process
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0000989	transcription factor activity, transcription factor binding	IDA	molecular function
GO:0001076	transcription factor activity, RNA polymerase II transcription factor binding	IEA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IEA	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IMP	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001666	response to hypoxia	IMP	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001755	neural crest cell migration	IEA	biological process
GO:0001837	epithelial to mesenchymal transition	IEA	biological process
GO:0001837	epithelial to mesenchymal transition	ISS	biological process
GO:0001892	embryonic placenta development	IEA	biological process
GO:0001922	B-1 B cell homeostasis	IEA	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IC	biological process
GO:0001944	vasculature development	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0002052	positive regulation of neuroblast proliferation	IEA	biological process
GO:0002248	connective tissue replacement involved in inflammatory response wound healing	IEA	biological process
GO:0002248	connective tissue replacement involved in inflammatory response wound healing	ISS	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0003208	cardiac ventricle morphogenesis	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005667	transcription factor complex	IPI	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006089	lactate metabolic process	IEA	biological process
GO:0006110	regulation of glycolytic process	IEA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IMP	biological process
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0006953	acute-phase response	IEA	biological process
GO:0007165	signal transduction	IMP	biological process
GO:0007595	lactation	IEA	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008284	positive regulation of cell proliferation	IEA	biological process
GO:0008542	visual learning	IEA	biological process
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0009651	response to salt stress	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0010165	response to X-ray	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010468	regulation of gene expression	IDA	biological process
GO:0010508	positive regulation of autophagy	IEA	biological process
GO:0010573	vascular endothelial growth factor production	IDA	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	IMP	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	IDA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0010634	positive regulation of epithelial cell migration	IEA	biological process
GO:0010634	positive regulation of epithelial cell migration	ISS	biological process
GO:0010870	positive regulation of receptor biosynthetic process	IMP	biological process
GO:0010996	response to auditory stimulus	IEA	biological process
GO:0014074	response to purine-containing compound	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0014850	response to muscle activity	IEA	biological process
GO:0016239	positive regulation of macroautophagy	IEA	biological process
GO:0016607	nuclear speck	IEA	cellular component
GO:0016607	nuclear speck	ISS	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0019896	axonal transport of mitochondrion	IMP	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0021502	neural fold elevation formation	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030279	negative regulation of ossification	IEA	biological process
GO:0030502	negative regulation of bone mineralization	IEA	biological process
GO:0030949	positive regulation of vascular endothelial growth factor receptor signaling pathway	IEA	biological process
GO:0030949	positive regulation of vascular endothelial growth factor receptor signaling pathway	IC	biological process
GO:0030949	positive regulation of vascular endothelial growth factor receptor signaling pathway	IC	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0031625	ubiquitin protein ligase binding	IEA	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0032007	negative regulation of TOR signaling	IEA	biological process
GO:0032025	response to cobalt ion	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032364	oxygen homeostasis	IEA	biological process
GO:0032364	oxygen homeostasis	IDA	biological process
GO:0032403	protein complex binding	IEA	molecular function
GO:0032722	positive regulation of chemokine production	TAS	biological process
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0032909	regulation of transforming growth factor beta2 production	IMP	biological process
GO:0032963	collagen metabolic process	IEA	biological process
GO:0032963	collagen metabolic process	ISS	biological process
GO:0035035	histone acetyltransferase binding	IPI	molecular function
GO:0035162	embryonic hemopoiesis	IEA	biological process
GO:0035257	nuclear hormone receptor binding	IPI	molecular function
GO:0035690	cellular response to drug	IEA	biological process
GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA	biological process
GO:0042127	regulation of cell proliferation	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042541	hemoglobin biosynthetic process	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0042789	mRNA transcription from RNA polymerase II promoter	IC	biological process
GO:0042826	histone deacetylase binding	IEA	molecular function
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043279	response to alkaloid	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043619	regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IEA	biological process
GO:0043619	regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IDA	biological process
GO:0043619	regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IDA	biological process
GO:0043627	response to estrogen	IEA	biological process
GO:0045648	positive regulation of erythrocyte differentiation	IEA	biological process
GO:0045648	positive regulation of erythrocyte differentiation	IC	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0045766	positive regulation of angiogenesis	IC	biological process
GO:0045793	positive regulation of cell size	IEA	biological process
GO:0045821	positive regulation of glycolytic process	IC	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045906	negative regulation of vasoconstriction	IEA	biological process
GO:0045926	negative regulation of growth	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IGI	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IGI	biological process
GO:0046716	muscle cell cellular homeostasis	IEA	biological process
GO:0046886	positive regulation of hormone biosynthetic process	IDA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0046982	protein heterodimerization activity	TAS	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0048514	blood vessel morphogenesis	IEA	biological process
GO:0048546	digestive tract morphogenesis	IEA	biological process
GO:0048593	camera-type eye morphogenesis	IEA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0051000	positive regulation of nitric-oxide synthase activity	TAS	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0051541	elastin metabolic process	IEA	biological process
GO:0051541	elastin metabolic process	ISS	biological process
GO:0051879	Hsp90 protein binding	IDA	molecular function
GO:0060135	maternal process involved in female pregnancy	IEA	biological process
GO:0060574	intestinal epithelial cell maturation	IEA	biological process
GO:0060992	response to fungicide	IEA	biological process
GO:0061030	epithelial cell differentiation involved in mammary gland alveolus development	IEA	biological process
GO:0061072	iris morphogenesis	IEA	biological process
GO:0061298	retina vasculature development in camera-type eye	IEA	biological process
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS	biological process
GO:0061419	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IMP	biological process
GO:0061419	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IDA	biological process
GO:0061419	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IMP	biological process
GO:0070101	positive regulation of chemokine-mediated signaling pathway	IC	biological process
GO:0070243	regulation of thymocyte apoptotic process	IEA	biological process
GO:0070244	negative regulation of thymocyte apoptotic process	IEA	biological process
GO:0070301	cellular response to hydrogen peroxide	IEA	biological process
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0071245	cellular response to carbon monoxide	IEA	biological process
GO:0071250	cellular response to nitrite	IEA	biological process
GO:0071257	cellular response to electrical stimulus	IEA	biological process
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:0071279	cellular response to cobalt ion	IEA	biological process
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0071347	cellular response to interleukin-1	IEA	biological process
GO:0071347	cellular response to interleukin-1	IEP	biological process
GO:0071396	cellular response to lipid	IEA	biological process
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0071456	cellular response to hypoxia	IDA	biological process
GO:0071456	cellular response to hypoxia	IDA	biological process
GO:0071456	cellular response to hypoxia	IEP	biological process
GO:0071456	cellular response to hypoxia	IDA	biological process
GO:0071482	cellular response to light stimulus	IEA	biological process
GO:0071542	dopaminergic neuron differentiation	IEA	biological process
GO:0072347	response to anesthetic	IEA	biological process
GO:0090575	RNA polymerase II transcription factor complex	IDA	cellular component
GO:0090575	RNA polymerase II transcription factor complex	IDA	cellular component
GO:0097237	cellular response to toxic substance	IEA	biological process
GO:0097411	hypoxia-inducible factor-1alpha signaling pathway	IEA	biological process
GO:1900037	regulation of cellular response to hypoxia	IEA	biological process
GO:1902895	positive regulation of pri-miRNA transcription from RNA polymerase II promoter	IMP	biological process
GO:1903377	negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA	biological process
GO:1903599	positive regulation of mitophagy	IEA	biological process
GO:1903715	regulation of aerobic respiration	IEA	biological process
GO:1903928	cellular response to cyanide	IEA	biological process
GO:1904115	axon cytoplasm	IEA	cellular component
GO:2000378	negative regulation of reactive oxygen species metabolic process	IEA	biological process
GO:2001054	negative regulation of mesenchymal cell apoptotic process	IEA	biological process
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0000989	transcription factor activity, transcription factor binding	IDA	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IMP	molecular function
GO:0001666	response to hypoxia	IDA	biological process
GO:0001666	response to hypoxia	IMP	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001837	epithelial to mesenchymal transition	ISS	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IC	biological process
GO:0002248	connective tissue replacement involved in inflammatory response wound healing	ISS	biological process
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005667	transcription factor complex	IPI	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IMP	biological process
GO:0007165	signal transduction	IMP	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0010468	regulation of gene expression	IDA	biological process
GO:0010573	vascular endothelial growth factor production	IDA	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	IMP	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	IDA	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0010634	positive regulation of epithelial cell migration	ISS	biological process
GO:0010870	positive regulation of receptor biosynthetic process	IMP	biological process
GO:0016607	nuclear speck	ISS	cellular component
GO:0019896	axonal transport of mitochondrion	IMP	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0030949	positive regulation of vascular endothelial growth factor receptor signaling pathway	IC	biological process
GO:0030949	positive regulation of vascular endothelial growth factor receptor signaling pathway	IC	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0032364	oxygen homeostasis	IDA	biological process
GO:0032722	positive regulation of chemokine production	TAS	biological process
GO:0032909	regulation of transforming growth factor beta2 production	IMP	biological process
GO:0032963	collagen metabolic process	ISS	biological process
GO:0035035	histone acetyltransferase binding	IPI	molecular function
GO:0035257	nuclear hormone receptor binding	IPI	molecular function
GO:0042789	mRNA transcription from RNA polymerase II promoter	IC	biological process
GO:0043619	regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IDA	biological process
GO:0043619	regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IDA	biological process
GO:0045648	positive regulation of erythrocyte differentiation	IC	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0045766	positive regulation of angiogenesis	IC	biological process
GO:0045821	positive regulation of glycolytic process	IC	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IGI	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IGI	biological process
GO:0046886	positive regulation of hormone biosynthetic process	IDA	biological process
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0046982	protein heterodimerization activity	TAS	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0051000	positive regulation of nitric-oxide synthase activity	TAS	biological process
GO:0051541	elastin metabolic process	ISS	biological process
GO:0051879	Hsp90 protein binding	IDA	molecular function
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS	biological process
GO:0061419	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IMP	biological process
GO:0061419	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IDA	biological process
GO:0061419	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IMP	biological process
GO:0070101	positive regulation of chemokine-mediated signaling pathway	IC	biological process
GO:0071347	cellular response to interleukin-1	IEP	biological process
GO:0071456	cellular response to hypoxia	IDA	biological process
GO:0071456	cellular response to hypoxia	IDA	biological process
GO:0071456	cellular response to hypoxia	IEP	biological process
GO:0071456	cellular response to hypoxia	IDA	biological process
GO:0090575	RNA polymerase II transcription factor complex	IDA	cellular component
GO:0090575	RNA polymerase II transcription factor complex	IDA	cellular component
GO:1902895	positive regulation of pri-miRNA transcription from RNA polymerase II promoter	IMP	biological process
GO:1903377	negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA	biological process
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04066	HIF-1 signaling pathway
hsa04140	Autophagy - animal
hsa04137	Mitophagy - animal
hsa04659	Th17 cell differentiation
hsa04919	Thyroid hormone signaling pathway
hsa05200	Pathways in cancer
hsa05205	Proteoglycans in cancer
hsa05230	Central carbon metabolism in cancer
hsa05231	Choline metabolism in cancer
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa05211	Renal cell carcinoma
hsa05167	Kaposi sarcoma-associated herpesvirus infection

Diseases

Associated diseases	References
Cancer	GAD: 20032376
Cancer (prostate)	GAD: 16205110
Cancer (tonsillar)	KEGG: H01509
Cancer (colorectal)	GAD: 15492789
Cancer (endometrial)	GAD: 17418979
Cancer (esophageal)	GAD: 12944107
Cancer (Hepatocellular)	GAD: 20648588
Cancer (kidney)	GAD: 15350301
Cancer (lung)	GAD: 19546348
Cancer (ovarian)	GAD: 20628624
Cancer (Renal cell)	GAD: 20032376
Cancer (Squamous cell)	GAD: 19449077
Cancer (stomach)	GAD: 19504235
Cancer (transitional cell)	GAD: 18000826
Cancer (breast)	GAD: 18785001
Cardiovascular disease	GAD: 16100168
Heart disease	GAD: 16100168
Peripheral arterial disease	GAD: 20926496
Cleft defects	GAD: 20634891
Retinopathy	GAD: 18787502
Diabetes	GAD: 16046581
Hypercholesterolemia	GAD: 20602615
Osteonecrosis	GAD: 17292638
Giant cell arteritis	GAD: 20412701
Stroke	GAD: 16871792
Chronic renal failure	GAD: 21085059
Preeclampsia	GAD: 18980686
Endometriosis	INFBASE: 21613300
Varicocele	MIK: 25335788
Asthenozoospermia	MIK: 24981555
Anoxia	GAD: 18763582
Erythrocytosis	GAD: 14521712
Hypoxia	GAD: 17407091
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Asthenozoospermia	MIK: 24981555
Endometriosis	MIK: 8299784
Idiopathic azoospermia	MIK: 28762519
Male infertility	MIK: 28762519
Teratozoospermia	MIK: 17327269
Varicocele	MIK: 25335788

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16469614	Varicocele			14 (8 grade 3 left varicocele, 6 volunteers with left indirect inguinal hernia)	Male infertility
24981555	Asthenozoospermia			51 (28 infertile patients with asthenozoospermia, 23 normospermic fertile donors )	Male infertility	IL-1? COX-2 and HIF-1?
25335788	Varicocele (VC)			65 (30 fertile varicocele subjects, 35 untreated infertile varicocele patients)	Male infertility	HIF 1a ADM
8299784	Endometriosis			32 (19 infertile with endometriosis, 7 infertile without endometriosis, 6 fertile women undergoing tubal ligation)	Female infertlity	EPF-32
28762519	Idiopathic azoospermia, Male infertility			60 (30 idiopathic azoospermia (IA) patients and 30 age-matched obstructive azoospermia (OA) patients)	Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881