Endometriosis Knowledgebase

Search Result

Gene id

1906

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

EDN1 Gene UCSC Ensembl

Aliases

ARCND3, ET1, HDLCQ7, PPET1, QME

Gene name

endothelin 1

Alternate names

endothelin-1, preproendothelin-1,

Gene location

6p24.1 (12256463: 12297193) Exons: 9 NC_000006.12

Gene summary(Entrez)

This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

OMIM

131240

SNPs

rs5370

Strand:    Allele origin: G(germline)/T(germline)  Allele change: G/T   Mutation type: snp

CM000668.2   g.12296022G>T
NC_000006.11   g.12296255G>T
NC_000006.12   g.12296022G>T
NG_016196.1   g.10727G>T
NM_001168319.1   c.591G>T
NM_001955.4   c.594G>T
NP_001161791.1   p.Lys197Asn
NP_001946.3   p.Lys198Asn
XP_011512632.1   p.Lys198Asn
XP_011512633.1   p.Lys198Asn
XP_011512634.1   p.Lys197Asn
XP_016865820.1   p.Lys198Asn
XR_241977.1   n.971C>A
Clinical Significance: other

Protein Summary

Protein general information

P05305

Name: Endothelin 1 (Preproendothelin 1) (PPET1) [Cleaved into: Endothelin 1 (ET 1); Big endothelin 1]

Length: 212 Mass: 24,425

Tissue specificity: Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells. {ECO

Sequence

MDYLLMIFSLLFVACQGAPETAVLGAELSAVGENGGEKPTPSPPWRLRRSKRCSCSSLMDKECVYFCHLDIIWVN
TPEHVVPYGLGSPRSKRALENLLPTKATDRENRCQCASQKDKKCWNFCQAGKELRAEDIMEKDWNNHKKGKDCSK
LGKKCIYQQLVRGRKIRRSSEEHLRQTRSETMRNSVKSSFHDPKLKGKPSRERYVTHNRAHW

Structural information

Interpro:	IPR020475 IPR019764 IPR001928
Prosite:	PS00270
Pfam:	PF00322
PDB:	1EDN 1EDP 1T7H 1V6R 5GLH
PDBsum:	1EDN 1EDP 1T7H 1V6R 5GLH
MINT:	1387120
STRING:	ENSP00000368683;

Other Databases

GeneCards: EDN1; Malacards: EDN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0001516	prostaglandin biosyntheti c process	IDA	biological_process
GO:0001569	branching involved in blo od vessel morphogenesis	IEA	biological_process
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0001821	histamine secretion	IEA	biological_process
GO:0003100	regulation of systemic ar terial blood pressure by endothelin	IDA	biological_process
GO:0005125	cytokine activity	IDA	molecular_function
GO:0005179	hormone activity	IDA	molecular_function
GO:0005179	hormone activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006885	regulation of pH	IEA	biological_process
GO:0007166	cell surface receptor sig naling pathway	IDA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IDA	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	IDA	biological_process
GO:0007205	protein kinase C-activati ng G-protein coupled rece ptor signaling pathway	IEA	biological_process
GO:0007267	cell-cell signaling	IDA	biological_process
GO:0007507	heart development	IEA	biological_process
GO:0007585	respiratory gaseous excha nge	IEA	biological_process
GO:0007589	body fluid secretion	IEA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0009953	dorsal/ventral pattern fo rmation	IEA	biological_process
GO:0010193	response to ozone	IEA	biological_process
GO:0010259	multicellular organism ag ing	IEA	biological_process
GO:0010460	positive regulation of he art rate	IDA	biological_process
GO:0010595	positive regulation of en dothelial cell migration	TAS	biological_process
GO:0010613	positive regulation of ca rdiac muscle hypertrophy	IDA	biological_process
GO:0010870	positive regulation of re ceptor biosynthetic proce ss	IDA	biological_process
GO:0014032	neural crest cell develop ment	IEA	biological_process
GO:0014065	phosphatidylinositol 3-ki nase signaling	IDA	biological_process
GO:0014823	response to activity	IEA	biological_process
GO:0014824	artery smooth muscle cont raction	TAS	biological_process
GO:0014824	artery smooth muscle cont raction	IDA	biological_process
GO:0014826	vein smooth muscle contra ction	IDA	biological_process
GO:0015758	glucose transport	IEA	biological_process
GO:0016049	cell growth	IEA	biological_process
GO:0019229	regulation of vasoconstri ction	IEA	biological_process
GO:0019233	sensory perception of pai n	IEA	biological_process
GO:0019722	calcium-mediated signalin g	IDA	biological_process
GO:0019722	calcium-mediated signalin g	IDA	biological_process
GO:0030072	peptide hormone secretion	IDA	biological_process
GO:0030185	nitric oxide transport	IDA	biological_process
GO:0030195	negative regulation of bl ood coagulation	TAS	biological_process
GO:0030335	positive regulation of ce ll migration	IDA	biological_process
GO:0030818	negative regulation of cA MP biosynthetic process	IEA	biological_process
GO:0031583	phospholipase D-activatin g G-protein coupled recep tor signaling pathway	IEA	biological_process
GO:0031707	endothelin A receptor bin ding	IDA	molecular_function
GO:0031708	endothelin B receptor bin ding	IDA	molecular_function
GO:0031708	endothelin B receptor bin ding	IPI	molecular_function
GO:0032269	negative regulation of ce llular protein metabolic process	IDA	biological_process
GO:0032308	positive regulation of pr ostaglandin secretion	IEA	biological_process
GO:0032496	response to lipopolysacch aride	IEA	biological_process
GO:0033093	Weibel-Palade body	IEA	cellular_component
GO:0033574	response to testosterone	IEA	biological_process
GO:0034392	negative regulation of sm ooth muscle cell apoptoti c process	IEA	biological_process
GO:0034696	response to prostaglandin F	IEA	biological_process
GO:0035094	response to nicotine	IEA	biological_process
GO:0035690	cellular response to drug	IEA	biological_process
GO:0035810	positive regulation of ur ine volume	IEA	biological_process
GO:0035815	positive regulation of re nal sodium excretion	IEA	biological_process
GO:0035994	response to muscle stretc h	IEA	biological_process
GO:0042045	epithelial fluid transpor t	IEA	biological_process
GO:0042310	vasoconstriction	IDA	biological_process
GO:0042310	vasoconstriction	IDA	biological_process
GO:0042313	protein kinase C deactiva tion	IDA	biological_process
GO:0042474	middle ear morphogenesis	IEA	biological_process
GO:0042482	positive regulation of od ontogenesis	IEA	biological_process
GO:0042554	superoxide anion generati on	IEA	biological_process
GO:0043179	rhythmic excitation	IEA	biological_process
GO:0043200	response to amino acid	IEA	biological_process
GO:0043406	positive regulation of MA P kinase activity	IDA	biological_process
GO:0043406	positive regulation of MA P kinase activity	IDA	biological_process
GO:0043507	positive regulation of JU N kinase activity	IDA	biological_process
GO:0044321	response to leptin	IEA	biological_process
GO:0045178	basal part of cell	IEA	cellular_component
GO:0045321	leukocyte activation	TAS	biological_process
GO:0045429	positive regulation of ni tric oxide biosynthetic p rocess	TAS	biological_process
GO:0045793	positive regulation of ce ll size	IDA	biological_process
GO:0045840	positive regulation of mi totic nuclear division	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0045987	positive regulation of sm ooth muscle contraction	IEA	biological_process
GO:0046887	positive regulation of ho rmone secretion	IDA	biological_process
GO:0046888	negative regulation of ho rmone secretion	IEA	biological_process
GO:0048016	inositol phosphate-mediat ed signaling	IDA	biological_process
GO:0048237	rough endoplasmic reticul um lumen	IEA	cellular_component
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IDA	biological_process
GO:0051216	cartilage development	IEA	biological_process
GO:0051482	positive regulation of cy tosolic calcium ion conce ntration involved in phos pholipase C-activating G- protein coupled signaling pathway	IEA	biological_process
GO:0051771	negative regulation of ni tric-oxide synthase biosy nthetic process	IDA	biological_process
GO:0051899	membrane depolarization	IEA	biological_process
GO:0051930	regulation of sensory per ception of pain	IEA	biological_process
GO:0060137	maternal process involved in parturition	IEA	biological_process
GO:0060298	positive regulation of sa rcomere organization	IMP	biological_process
GO:0060585	positive regulation of pr ostaglandin-endoperoxide synthase activity	IMP	biological_process
GO:0070101	positive regulation of ch emokine-mediated signalin g pathway	IC	biological_process
GO:0071277	cellular response to calc ium ion	IEA	biological_process
GO:0071346	cellular response to inte rferon-gamma	IEA	biological_process
GO:0071347	cellular response to inte rleukin-1	IEA	biological_process
GO:0071356	cellular response to tumo r necrosis factor	IEA	biological_process
GO:0071375	cellular response to pept ide hormone stimulus	IEA	biological_process
GO:0071385	cellular response to gluc ocorticoid stimulus	IEA	biological_process
GO:0071389	cellular response to mine ralocorticoid stimulus	IEA	biological_process
GO:0071398	cellular response to fatt y acid	IEA	biological_process
GO:0071456	cellular response to hypo xia	IEA	biological_process
GO:0071548	response to dexamethasone	IEA	biological_process
GO:0071560	cellular response to tran sforming growth factor be ta stimulus	IEA	biological_process
GO:1902074	response to salt	IEA	biological_process
GO:0030593	neutrophil chemotaxis	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0001501	skeletal system developme nt	IEA	biological_process
GO:0001516	prostaglandin biosyntheti c process	IDA	biological_process
GO:0001569	branching involved in blo od vessel morphogenesis	IEA	biological_process
GO:0001666	response to hypoxia	IEA	biological_process
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0001821	histamine secretion	IEA	biological_process
GO:0003100	regulation of systemic ar terial blood pressure by endothelin	IDA	biological_process
GO:0005102	receptor binding	IEA	molecular_function
GO:0005125	cytokine activity	IDA	molecular_function
GO:0005179	hormone activity	IDA	molecular_function
GO:0005179	hormone activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006885	regulation of pH	IEA	biological_process
GO:0007166	cell surface receptor sig naling pathway	IDA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IDA	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	IEA	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	IDA	biological_process
GO:0007205	protein kinase C-activati ng G-protein coupled rece ptor signaling pathway	IEA	biological_process
GO:0007267	cell-cell signaling	IDA	biological_process
GO:0007507	heart development	IEA	biological_process
GO:0007585	respiratory gaseous excha nge	IEA	biological_process
GO:0007589	body fluid secretion	IEA	biological_process
GO:0008217	regulation of blood press ure	IEA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IEA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0009953	dorsal/ventral pattern fo rmation	IEA	biological_process
GO:0010193	response to ozone	IEA	biological_process
GO:0010259	multicellular organism ag ing	IEA	biological_process
GO:0010460	positive regulation of he art rate	IDA	biological_process
GO:0010595	positive regulation of en dothelial cell migration	TAS	biological_process
GO:0010613	positive regulation of ca rdiac muscle hypertrophy	IDA	biological_process
GO:0010870	positive regulation of re ceptor biosynthetic proce ss	IDA	biological_process
GO:0014032	neural crest cell develop ment	IEA	biological_process
GO:0014065	phosphatidylinositol 3-ki nase signaling	IDA	biological_process
GO:0014823	response to activity	IEA	biological_process
GO:0014824	artery smooth muscle cont raction	IEA	biological_process
GO:0014824	artery smooth muscle cont raction	TAS	biological_process
GO:0014824	artery smooth muscle cont raction	IDA	biological_process
GO:0014826	vein smooth muscle contra ction	IDA	biological_process
GO:0015758	glucose transport	IEA	biological_process
GO:0016049	cell growth	IEA	biological_process
GO:0019229	regulation of vasoconstri ction	IEA	biological_process
GO:0019233	sensory perception of pai n	IEA	biological_process
GO:0019722	calcium-mediated signalin g	IDA	biological_process
GO:0019722	calcium-mediated signalin g	IDA	biological_process
GO:0030072	peptide hormone secretion	IDA	biological_process
GO:0030185	nitric oxide transport	IDA	biological_process
GO:0030195	negative regulation of bl ood coagulation	TAS	biological_process
GO:0030335	positive regulation of ce ll migration	IDA	biological_process
GO:0030818	negative regulation of cA MP biosynthetic process	IEA	biological_process
GO:0031583	phospholipase D-activatin g G-protein coupled recep tor signaling pathway	IEA	biological_process
GO:0031707	endothelin A receptor bin ding	IEA	molecular_function
GO:0031707	endothelin A receptor bin ding	IDA	molecular_function
GO:0031708	endothelin B receptor bin ding	IEA	molecular_function
GO:0031708	endothelin B receptor bin ding	IDA	molecular_function
GO:0031708	endothelin B receptor bin ding	IPI	molecular_function
GO:0032269	negative regulation of ce llular protein metabolic process	IDA	biological_process
GO:0032308	positive regulation of pr ostaglandin secretion	IEA	biological_process
GO:0032496	response to lipopolysacch aride	IEA	biological_process
GO:0033093	Weibel-Palade body	IEA	cellular_component
GO:0033574	response to testosterone	IEA	biological_process
GO:0034392	negative regulation of sm ooth muscle cell apoptoti c process	IEA	biological_process
GO:0034696	response to prostaglandin F	IEA	biological_process
GO:0035094	response to nicotine	IEA	biological_process
GO:0035556	intracellular signal tran sduction	IEA	biological_process
GO:0035690	cellular response to drug	IEA	biological_process
GO:0035810	positive regulation of ur ine volume	IEA	biological_process
GO:0035815	positive regulation of re nal sodium excretion	IEA	biological_process
GO:0035994	response to muscle stretc h	IEA	biological_process
GO:0042045	epithelial fluid transpor t	IEA	biological_process
GO:0042310	vasoconstriction	IEA	biological_process
GO:0042310	vasoconstriction	IEA	biological_process
GO:0042310	vasoconstriction	IDA	biological_process
GO:0042310	vasoconstriction	IDA	biological_process
GO:0042313	protein kinase C deactiva tion	IDA	biological_process
GO:0042474	middle ear morphogenesis	IEA	biological_process
GO:0042482	positive regulation of od ontogenesis	IEA	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0042554	superoxide anion generati on	IEA	biological_process
GO:0043179	rhythmic excitation	IEA	biological_process
GO:0043200	response to amino acid	IEA	biological_process
GO:0043406	positive regulation of MA P kinase activity	IDA	biological_process
GO:0043406	positive regulation of MA P kinase activity	IDA	biological_process
GO:0043507	positive regulation of JU N kinase activity	IDA	biological_process
GO:0044321	response to leptin	IEA	biological_process
GO:0045178	basal part of cell	IEA	cellular_component
GO:0045321	leukocyte activation	TAS	biological_process
GO:0045429	positive regulation of ni tric oxide biosynthetic p rocess	TAS	biological_process
GO:0045793	positive regulation of ce ll size	IDA	biological_process
GO:0045840	positive regulation of mi totic nuclear division	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0045987	positive regulation of sm ooth muscle contraction	IEA	biological_process
GO:0046887	positive regulation of ho rmone secretion	IDA	biological_process
GO:0046888	negative regulation of ho rmone secretion	IEA	biological_process
GO:0048016	inositol phosphate-mediat ed signaling	IDA	biological_process
GO:0048237	rough endoplasmic reticul um lumen	IEA	cellular_component
GO:0048514	blood vessel morphogenesi s	IEA	biological_process
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IDA	biological_process
GO:0050880	regulation of blood vesse l size	IEA	biological_process
GO:0051216	cartilage development	IEA	biological_process
GO:0051482	positive regulation of cy tosolic calcium ion conce ntration involved in phos pholipase C-activating G- protein coupled signaling pathway	IEA	biological_process
GO:0051771	negative regulation of ni tric-oxide synthase biosy nthetic process	IDA	biological_process
GO:0051899	membrane depolarization	IEA	biological_process
GO:0051930	regulation of sensory per ception of pain	IEA	biological_process
GO:0060137	maternal process involved in parturition	IEA	biological_process
GO:0060298	positive regulation of sa rcomere organization	IMP	biological_process
GO:0060585	positive regulation of pr ostaglandin-endoperoxide synthase activity	IMP	biological_process
GO:0070101	positive regulation of ch emokine-mediated signalin g pathway	IC	biological_process
GO:0071277	cellular response to calc ium ion	IEA	biological_process
GO:0071346	cellular response to inte rferon-gamma	IEA	biological_process
GO:0071347	cellular response to inte rleukin-1	IEA	biological_process
GO:0071356	cellular response to tumo r necrosis factor	IEA	biological_process
GO:0071375	cellular response to pept ide hormone stimulus	IEA	biological_process
GO:0071385	cellular response to gluc ocorticoid stimulus	IEA	biological_process
GO:0071389	cellular response to mine ralocorticoid stimulus	IEA	biological_process
GO:0071398	cellular response to fatt y acid	IEA	biological_process
GO:0071456	cellular response to hypo xia	IEA	biological_process
GO:0071548	response to dexamethasone	IEA	biological_process
GO:0071559	response to transforming growth factor beta	IEA	biological_process
GO:0071560	cellular response to tran sforming growth factor be ta stimulus	IEA	biological_process
GO:1902074	response to salt	IEA	biological_process
GO:0030593	neutrophil chemotaxis	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0001516	prostaglandin biosyntheti c process	IDA	biological_process
GO:0003100	regulation of systemic ar terial blood pressure by endothelin	IDA	biological_process
GO:0005125	cytokine activity	IDA	molecular_function
GO:0005179	hormone activity	IDA	molecular_function
GO:0005179	hormone activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0007166	cell surface receptor sig naling pathway	IDA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IDA	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	IDA	biological_process
GO:0007267	cell-cell signaling	IDA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0010460	positive regulation of he art rate	IDA	biological_process
GO:0010595	positive regulation of en dothelial cell migration	TAS	biological_process
GO:0010613	positive regulation of ca rdiac muscle hypertrophy	IDA	biological_process
GO:0010870	positive regulation of re ceptor biosynthetic proce ss	IDA	biological_process
GO:0014065	phosphatidylinositol 3-ki nase signaling	IDA	biological_process
GO:0014824	artery smooth muscle cont raction	TAS	biological_process
GO:0014824	artery smooth muscle cont raction	IDA	biological_process
GO:0014826	vein smooth muscle contra ction	IDA	biological_process
GO:0019722	calcium-mediated signalin g	IDA	biological_process
GO:0019722	calcium-mediated signalin g	IDA	biological_process
GO:0030072	peptide hormone secretion	IDA	biological_process
GO:0030185	nitric oxide transport	IDA	biological_process
GO:0030195	negative regulation of bl ood coagulation	TAS	biological_process
GO:0030335	positive regulation of ce ll migration	IDA	biological_process
GO:0031707	endothelin A receptor bin ding	IDA	molecular_function
GO:0031708	endothelin B receptor bin ding	IDA	molecular_function
GO:0031708	endothelin B receptor bin ding	IPI	molecular_function
GO:0032269	negative regulation of ce llular protein metabolic process	IDA	biological_process
GO:0042310	vasoconstriction	IDA	biological_process
GO:0042310	vasoconstriction	IDA	biological_process
GO:0042313	protein kinase C deactiva tion	IDA	biological_process
GO:0043406	positive regulation of MA P kinase activity	IDA	biological_process
GO:0043406	positive regulation of MA P kinase activity	IDA	biological_process
GO:0043507	positive regulation of JU N kinase activity	IDA	biological_process
GO:0045321	leukocyte activation	TAS	biological_process
GO:0045429	positive regulation of ni tric oxide biosynthetic p rocess	TAS	biological_process
GO:0045793	positive regulation of ce ll size	IDA	biological_process
GO:0045840	positive regulation of mi totic nuclear division	IDA	biological_process
GO:0046887	positive regulation of ho rmone secretion	IDA	biological_process
GO:0048016	inositol phosphate-mediat ed signaling	IDA	biological_process
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IDA	biological_process
GO:0051771	negative regulation of ni tric-oxide synthase biosy nthetic process	IDA	biological_process
GO:0060298	positive regulation of sa rcomere organization	IMP	biological_process
GO:0060585	positive regulation of pr ostaglandin-endoperoxide synthase activity	IMP	biological_process
GO:0070101	positive regulation of ch emokine-mediated signalin g pathway	IC	biological_process
GO:0030593	neutrophil chemotaxis	IDA	biological_process

KEGG pathways

hsa05418  Fluid shear stress and atherosclerosis
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04668  TNF signaling pathway
hsa04066  HIF-1 signaling pathway
hsa04916  Melanogenesis

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 19141999
Asthma	PMID: 11831453
Atherosclerosis	PMID: 12446192
Atopy	PMID: 10200023
Cancer	PMID: 19692168
Chronic obstructive pulmonary disease (COPD)	PMID: 19640695
Cystic fibrosis	PMID: 20028935
Diabetes	PMID: 16526196
Diabetic nephropathy	PMID: 17345061
Diabetic retinopathy	PMID: 12724690
Endometriosis	PMID: 8194621
Female infertility	PMID: 9130894
Glaucoma	PMID: 9493554
Glomerulonephritis	PMID: 19420105
Hypoplastic left heart syndrome	PMID: 18603063
Kidney disease	PMID: 14514737
Metabolic syndrome	PMID: 19056482
Migraine disorders	PMID: 19661472
Obesity	PMID: 18580062
Ovarian hyperstimulation syndrome (OHSS)	PMID: 7789582
Periodontitis	PMID: 11210078
Polycystic kidney disease	PMID: 16943682
Polycystic ovary syndrome (PCOS)	PMID: 22281885
Preeclampsia	PMID: 19730395
Psoriasis	PMID: 12077518
Endometriosis associated infertility	INFBASE8194621
Endometriosis	INFBASE8194621
Retinopathy	PMID: 11399938
Rheumatoid arthritis	PMID: 18663623
Sickle cell anemia	PMID: 16956834
Sudden infant death syndrome (SIDS)	PMID: 15240857
Vitiligo	PMID: 19416273

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
8194621	Endometrio sis				Female infertility	Endothelin-1	Show abstract
19626996	Endometrio sis			61 (48 cases of endometriosis (EM), control s amples were eut opic endometriu m from 13 cases of cervical in traepithelial n eoplasia (CIN))	Female infertility	ET(A)R ET-1	Show abstract