Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	4846
Gene name	Nitric oxide synthase 3
Gene symbol	NOS3
Synonyms (NCBI Gene)	ECNOSeNOS
Chromosome	7
Chromosome location	7q36.1
Summary	Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in

SNP ID	Visualize variation	Clinical significance	Consequence
rs1549758	T>A,C	Risk-factor, benign	Missense variant, coding sequence variant, synonymous variant
rs1799983	T>A,G	Pathogenic, risk-factor, benign	Missense variant, coding sequence variant
rs2070744	C>G,T	Protective, risk-factor	Upstream transcript variant, genic upstream transcript variant, intron variant

39 Show/Hide all (39)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007181	hsa-miR-155-5p	Luciferase reporter assayqRT-PCRWestern blot	23108656
MIRT007181	hsa-miR-155-5p	Luciferase reporter assayqRT-PCRWestern blot	23108656
MIRT017773	hsa-miR-335-5p	Microarray	18185580
MIRT053134	hsa-miR-24-3p	Luciferase reporter assayqRT-PCRWestern blot	23774796
MIRT053134	hsa-miR-24-3p	ImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot	25920448
MIRT733004	hsa-miR-124-3p	Luciferase reporter assay	32692577
MIRT737146	hsa-miR-744-5p	Microarray	33749631
MIRT007181	hsa-miR-155-5p	Luciferase reporter assayWestern blottingqRT-PCR	36866732
MIRT017773	hsa-miR-335-5p	Luciferase reporter assayWestern blottingqRT-PCR	36866732
MIRT755379	hsa-miR-383-5p	Luciferase reporter assayWestern blottingqRT-PCR	36866732
MIRT1189583	hsa-miR-124	CLIP-seq
MIRT1189584	hsa-miR-1253	CLIP-seq
MIRT1189585	hsa-miR-335	CLIP-seq
MIRT1189586	hsa-miR-506	CLIP-seq
MIRT1189587	hsa-miR-576-3p	CLIP-seq
MIRT2283919	hsa-miR-24	CLIP-seq
MIRT2283920	hsa-miR-3616-3p	CLIP-seq
MIRT2283921	hsa-miR-4284	CLIP-seq
MIRT2283922	hsa-miR-4640-5p	CLIP-seq
MIRT2283923	hsa-miR-4721	CLIP-seq
MIRT2283924	hsa-miR-4726-5p	CLIP-seq
MIRT2283925	hsa-miR-764	CLIP-seq
MIRT2455324	hsa-miR-1301	CLIP-seq
MIRT2455325	hsa-miR-362-5p	CLIP-seq
MIRT2455326	hsa-miR-378	CLIP-seq
MIRT2455327	hsa-miR-378b	CLIP-seq
MIRT2455328	hsa-miR-378c	CLIP-seq
MIRT2455329	hsa-miR-378d	CLIP-seq
MIRT2455330	hsa-miR-378e	CLIP-seq
MIRT2455331	hsa-miR-378f	CLIP-seq
MIRT2455332	hsa-miR-378h	CLIP-seq
MIRT2455333	hsa-miR-378i	CLIP-seq
MIRT2455334	hsa-miR-422a	CLIP-seq
MIRT2455335	hsa-miR-4520a-3p	CLIP-seq
MIRT2455336	hsa-miR-4638-3p	CLIP-seq
MIRT2455337	hsa-miR-500a	CLIP-seq
MIRT2455338	hsa-miR-500b	CLIP-seq
MIRT2455339	hsa-miR-502-5p	CLIP-seq
MIRT2455340	hsa-miR-5047	CLIP-seq

12 Show/Hide all (12)

Transcription factor	Regulation	Reference
ATF2	Repression	16497991
DDIT3	Repression	22265908
GATA2	Activation	10713142
GATA4	Activation	14555463
HDAC1	Unknown	22848708
JUN	Unknown	11382920
KLF2	Activation	22987017
NFKB1	Activation	17081374;17644577
RELA	Activation	17081374
SP1	Activation	10713142;12270858;18624763
SP1	Unknown	15722551
SP3	Activation	14555463

118 Show/Hide all (118)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001525	Process	Angiogenesis	IEA
GO:0001542	Process	Ovulation from ovarian follicle	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0001974	Process	Blood vessel remodeling	ISS
GO:0002028	Process	Regulation of sodium ion transport	IEA
GO:0003057	Process	Regulation of the force of heart contraction by chemical signal	IEA
GO:0003100	Process	Regulation of systemic arterial blood pressure by endothelin	IMP	8999856
GO:0003180	Process	Aortic valve morphogenesis	IEA
GO:0003180	Process	Aortic valve morphogenesis	ISS
GO:0003180	Process	Aortic valve morphogenesis	TAS	29325903
GO:0003184	Process	Pulmonary valve morphogenesis	IEA
GO:0003184	Process	Pulmonary valve morphogenesis	ISS
GO:0003203	Process	Endocardial cushion morphogenesis	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003785	Function	Actin monomer binding	IPI	17502619
GO:0004517	Function	Nitric-oxide synthase activity	EXP	1378832
GO:0004517	Function	Nitric-oxide synthase activity	IBA
GO:0004517	Function	Nitric-oxide synthase activity	IDA	1378832, 7488039, 19666465, 35772285
GO:0004517	Function	Nitric-oxide synthase activity	IEA
GO:0004517	Function	Nitric-oxide synthase activity	IMP	23707606
GO:0004517	Function	Nitric-oxide synthase activity	TAS
GO:0005515	Function	Protein binding	IPI	11149895, 12446846, 12852865, 12855682, 16234328, 16432212, 17502619, 21163940, 22458338, 23123858, 23585225, 25062958, 25416956, 32296183, 32814053, 35512704
GO:0005516	Function	Calmodulin binding	EXP	9188442
GO:0005516	Function	Calmodulin binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IDA	9794441
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005794	Component	Golgi apparatus	IDA	25131610
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	25131610
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005901	Component	Caveola	IDA	17502619, 17848177
GO:0005901	Component	Caveola	IEA
GO:0006527	Process	L-arginine catabolic process	IBA
GO:0006527	Process	L-arginine catabolic process	IDA	1378832, 7488039
GO:0006809	Process	Nitric oxide biosynthetic process	IBA
GO:0006809	Process	Nitric oxide biosynthetic process	IDA	1378832, 7488039
GO:0006809	Process	Nitric oxide biosynthetic process	IEA
GO:0006809	Process	Nitric oxide biosynthetic process	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007005	Process	Mitochondrion organization	ISS
GO:0007263	Process	Nitric oxide mediated signal transduction	IBA
GO:0008015	Process	Blood circulation	IEA
GO:0008217	Process	Regulation of blood pressure	NAS	7504210
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	ISS
GO:0009408	Process	Response to heat	NAS	18048451
GO:0009725	Process	Response to hormone	IBA
GO:0010181	Function	FMN binding	IBA
GO:0010181	Function	FMN binding	IEA
GO:0010181	Function	FMN binding	NAS	7488039
GO:0010544	Process	Negative regulation of platelet activation	NAS	7504210
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS	23583836
GO:0014740	Process	Negative regulation of muscle hyperplasia	IEA
GO:0014740	Process	Negative regulation of muscle hyperplasia	ISS
GO:0014806	Process	Smooth muscle hyperplasia	IEA
GO:0014806	Process	Smooth muscle hyperplasia	ISS
GO:0016020	Component	Membrane	IEA
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	TAS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019430	Process	Removal of superoxide radicals	IDA	19666465
GO:0020037	Function	Heme binding	IDA	7488039
GO:0020037	Function	Heme binding	IEA
GO:0030324	Process	Lung development	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0031644	Process	Regulation of nervous system process	IEA
GO:0031644	Process	Regulation of nervous system process	ISS
GO:0031663	Process	Lipopolysaccharide-mediated signaling pathway	IEA
GO:0032496	Process	Response to lipopolysaccharide	IBA
GO:0034405	Process	Response to fluid shear stress	IEP	10376603
GO:0034617	Function	Tetrahydrobiopterin binding	EXP	19583767
GO:0034617	Function	Tetrahydrobiopterin binding	IDA	7488039
GO:0034618	Function	Arginine binding	IDA	7488039
GO:0034618	Function	Arginine binding	IEA
GO:0042311	Process	Vasodilation	NAS	7504210, 18048451
GO:0043267	Process	Negative regulation of potassium ion transport	IEA
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IDA	23802567
GO:0043542	Process	Endothelial cell migration	IMP	8999856
GO:0045454	Process	Cell redox homeostasis	IEA
GO:0045454	Process	Cell redox homeostasis	TAS
GO:0045747	Process	Positive regulation of Notch signaling pathway	IC	23583836
GO:0045766	Process	Positive regulation of angiogenesis	IDA	23802567
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045766	Process	Positive regulation of angiogenesis	ISS
GO:0045776	Process	Negative regulation of blood pressure	IBA
GO:0046146	Process	Tetrahydrobiopterin metabolic process	TAS
GO:0046209	Process	Nitric oxide metabolic process	TAS
GO:0046870	Function	Cadmium ion binding	NAS	7488039
GO:0046872	Function	Metal ion binding	IEA
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	ISS
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	NAS	7488039
GO:0050661	Function	NADP binding	IEA
GO:0050661	Function	NADP binding	NAS	7488039
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051926	Process	Negative regulation of calcium ion transport	IEA
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0070168	Process	Negative regulation of biomineral tissue development	IEA
GO:0070168	Process	Negative regulation of biomineral tissue development	ISS
GO:0097110	Function	Scaffold protein binding	IEA
GO:0097746	Process	Blood vessel diameter maintenance	IEA
GO:0097746	Process	Blood vessel diameter maintenance	ISS
GO:1902042	Process	Negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	ISS

MIM	HGNC	e!Ensembl
163729	7876	ENSG00000164867

P29474

Protein name

Nitric oxide synthase 3 (EC 1.14.13.39) (Constitutive NOS) (cNOS) (EC-NOS) (NOS type III) (NOSIII) (Nitric oxide synthase, endothelial) (Endothelial NOS) (eNOS)

Protein function

Produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway (PubMed:1378832). NO mediates vascular endothelial growth factor (VEGF)-induced angiogenesis in coronary vess

PDB

1M9J , 1M9K , 1M9M , 1M9Q , 1M9R , 1NIW , 2LL7 , 2MG5 , 2N8J , 3EAH , 3NOS , 4D1O , 4D1P , 5UO8 , 5UO9 , 5UOA , 5UOB , 5UOC , 5VVB , 5VVC , 5VVD , 5XOF , 6AV6 , 6AV7 , 6CIE , 6CIF , 6NH1 , 6NH2 , 6NH3 , 6NH4 , 6NH5 , 6NH6 , 6NH7 , 6NH8 , 6NHF , 6POU , 6POV , 6POW , 6POX , 6POY , 6POZ , 6PP0 , 6PP1 , 6PP2 , 6PP3 , 6PP4 , 7M56 , 7TSG , 7TSH , 7TSI , 7TSK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00175	NAD_binding_1	1011 → 1125	Oxidoreductase NAD-binding domain	Domain
PF00258	Flavodoxin_1	522 → 698	Flavodoxin	Domain
PF00667	FAD_binding_1	751 → 979	FAD binding domain	Domain
PF02898	NO_synthase	119 → 481	Nitric oxide synthase, oxygenase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Platelets, placenta, liver and kidney. {ECO:0000269|PubMed:7515611}.

Sequence

MGNLKSVAQEPGPPCGLGLGLGLGLCGKQGPATPAPEPSRAPASLLPPAPEHSPPSSPLT
QPPEGPKFPRVKNWEVGSITYDTLSAQAQQDGPCTPRRCLGSLVFPRKLQGRPSPGPPAP
EQLLSQARDFINQYYSSIKRSGSQAHEQRLQEVEAEVAATGTYQLRESELVFGAKQAWRN
APRCVGRIQWGKLQVFDARDCRSAQEMFTYICNHIKYATNRGNLRSAITVFPQRCPGRGD
FRIWNSQLVRYAGYRQQDGSVRGDPANVEITELCIQHGWTPGNGRFDVLPLLLQAPDDPP
ELFLLPPELVLEVPLEHPTLEWFAALGLRWYALPAVSNMLLEIGGLEFPAAPFSGWYMST
EIGTRNLCDPHRYNILEDVAVCMDLDTRTTSSLWKDKAAVEINVAVLHSYQLAKVTIVDH
HAATASFMKHLENEQKARGGCPADWAWIVPPISGSLTPVFHQEMVNYFLSPAFRYQPDPW
KGSAAKGTGITRKKTFKEVANAVKISASLMGTVMAKRVKATILYGSETGRAQSYAQQLGR
LFRKAFDPRVLCMDEYDVVSLEHETLVLVVTSTFGNGDPPENGESFAAALMEMSGPYNSS
PRPEQHKSYKIRFNSISCSDPLVSSWRRKRKESSNTDSAGALGTLRFCVFGLGSRAYPHF
CAFARAVDTRLEELGGERLLQLGQGDELCGQEEAFRGWAQAAFQAACETFCVGEDAKAAA
RDIFSPKRSWKRQRYRLSAQAEGLQLLPGLIHVHRRKMFQATIRSVENLQSSKSTRATIL
VRLDTGGQEGLQYQPGDHIGVCPPNRPGLVEALLSRVEDPPAPTEPVAVEQLEKGSPGGP
PPGWVRDPRLPPCTLRQALTFFLDITSPPSPQLLRLLSTLAEEPREQQELEALSQDPRRY
EEWKWFRCPTLLEVLEQFPSVALPAPLLLTQLPLLQPRYYSVSSAPSTHPGEIHLTVAVL
AYRTQDGLGPLHYGVCSTWLSQLKPGDPVPCFIRGAPSFRLPPDPSLPCILVGPGTGIAP
FRGFWQERLHDIESKGLQPTPMTLVFGCRCSQLDHLYRDEVQNAQQRGVFGRVLTAFSRE
PDNPKTYVQDILRTELAAEVHRVLCLERGHMFVCGDVTMATNVLQTVQRILATEGDMELD
EAGDVIGVLRDQQRYHEDIFGLTLRTQEVTSRIRTQSFSLQERQLRGAVPWAFDPPGSDT
NSP

Sequence length

1203

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Arginine biosynthesis	ROS and RNS production in phagocytes
Arginine and proline metabolism	Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
Metabolic pathways	eNOS activation
Calcium signaling pathway	NOSTRIN mediated eNOS trafficking
cGMP-PKG signaling pathway	NOSIP mediated eNOS trafficking
HIF-1 signaling pathway	Nitric oxide stimulates guanylate cyclase
Sphingolipid signaling pathway	VEGFR2 mediated vascular permeability
PI3K-Akt signaling pathway	Extra-nuclear estrogen signaling
VEGF signaling pathway
Apelin signaling pathway
Platelet activation
Estrogen signaling pathway
Oxytocin signaling pathway
Relaxin signaling pathway
Insulin resistance
AGE-RAGE signaling pathway in diabetic complications
Diabetic cardiomyopathy
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis

115

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Premature ovarian failure	Likely pathogenic	rs752309888, rs765854160	RCV001270207 RCV001270208	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (114)
Alzheimer disease	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer disease type 1	Uncertain significance; Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE, FAMILIAL, 1	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SICKLE CELL	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGLE CLOSURE GLAUCOMA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	14736551	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASEPTIC NECROSIS OF HEAD AND/OR NECK OF FEMUR	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	12677255, 20720404	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet CTD, Disgenet	11761419	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	35663546	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AVASCULAR NECROSIS OF BONE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	15375496, 19671875	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	11504159, 12224825, 16844920, 17487232	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	30595370, 37947095	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	12947532, 20610621	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, EXTRAHEPATIC	—	CTD, Disgenet CTD, Disgenet	30026087	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP	—	CTD	21254359	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	21254359	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD, GWAS catalog CTD, GWAS catalog	10510054, 14989558, 17267746, 19696404, 26343387, 28714975, 29212778, 30104761, 35285134, 36474045, 37947095, 39024449, 39537608	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY VASOSPASM	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY VASOSPASM	—	CTD	10359729, 9737779	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	21666113	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	12716763, 16959961	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC ANGIOPATHIES	—	CTD, Disgenet CTD, Disgenet	12124201	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES	—	CTD	20042665	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC PERIPHERAL ANGIOPATHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION	—	CTD, Disgenet CTD, Disgenet	12002441, 17071732	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS	—	CTD	21472143	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential hypertension	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	39024449	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Essential hypertension, genetic	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXUDATIVE AGE-RELATED MACULAR DEGENERATION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC ULCER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	36777996	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	19168511, 20304815, 40195560	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC INSUFFICIENCY	—	CTD	30026087	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY	—	CTD	30026087	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERGLYCEMIA	—	CTD, Disgenet CTD, Disgenet	11696579	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM	—	CTD, Disgenet CTD, Disgenet	19008412	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIAS	—	CTD	11457755	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIAS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD, GWAS catalog CTD, GWAS catalog	11457755, 12947532, 16331104, 19008412, 19407804, 27618448, 37947095, 38965376, 39024449, 39789286	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION RESISTANT TO CONVENTIONAL THERAPY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PORTAL	—	CTD	18070013	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PREGNANCY-INDUCED	—	CTD	11745998	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	21144100	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, RENOVASCULAR	—	CTD, Disgenet CTD, Disgenet	18641695	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOXIA	—	CTD	10956627	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	25517965	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSULIN RESISTANCE	—	CTD	11457755, 12716763, 12947532, 19008412	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL PERFORATION	—	CTD, Disgenet CTD, Disgenet	18030227	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ischemic stroke	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, BILIARY	—	CTD	30026087	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	CTD, GWAS catalog CTD, GWAS catalog	12947532, 15269839, 20876122, 39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME X	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic syndrome, susceptibility to	protective	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	10510054, 16337503, 33532862, 34594039, 37947095, 38072966	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	12354446, 30104761, 39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NOS3-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC NEUROPATHY, ISCHEMIC	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEONECROSIS OF MEDIAL FEMORAL CONDYLE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORTAL HYPERTENSION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Preeclampsia/eclampsia 1	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREGNANCY ASSOCIATED HYPERTENSION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY OPEN ANGLE GLAUCOMA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	12429631, 12445681, 16458450	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY DISEASE, CHRONIC OBSTRUCTIVE	—	CTD	21843929	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY EDEMA	—	CTD	16844920	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RAYNAUD DISEASE	—	GWAS catalog	39142284	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY OF PREMATURITY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPSIS	—	CTD, Disgenet CTD, Disgenet	20035746	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLEEP APNEA, OBSTRUCTIVE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	16367923	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	30383316	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERATOZOOSPERMIA	—	CTD, Disgenet CTD, Disgenet	29983398	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UREMIA	—	CTD, Disgenet CTD, Disgenet	19092814	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URETERAL OBSTRUCTION	—	CTD	26207612	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULITIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR PREMATURE COMPLEXES	—	CTD	11761419	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESTIBULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	18776599	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
NOS2	15	["Atherosclerosis","Biliary cirrhosis","Cholelithiasis","Obstructive airway disease","Liver cirrhosis","Congestive heart failure","Esophageal neoplasms","Gastric ulcer","Hepatic insufficiency","Hepatomegaly","Kidney failure","Biliary cholangitis"]	8	["Arginine biosynthesis","Arginine and proline metabolism","Calcium signaling pathway","HIF-1 signaling pathway","Apelin signaling pathway","Relaxin signaling pathway","ROS and RNS production in phagocytes","Nitric oxide stimulates guanylate cyclase"]	26	["Disgenet (Asthma)","CTD (Atherosclerosis)","Disgenet (Atherosclerosis)","Disgenet (Biliary cirrhosis)","CTD (Cholelithiasis)","Disgenet (Cholelithiasis)","Disgenet (Obstructive airway disease)","Disgenet (Congestive heart failure)","Disgenet (Diabetes mellitus type 2)","CTD (Diabetes mellitus type 2)","CTD (Esophageal neoplasms)","CTD (Hypertension)"]
SERPINE1	14	["Atherosclerosis","Behcet disease","Cholelithiasis","Ischemic heart disease","Liver cirrhosis","Congestive heart failure","Diabetic angiopathies","Diabetic neuropathy","Diabetic peripheral angiopathy","Diabetic retinopathy","Kidney failure","Preeclampsia"]	3	["HIF-1 signaling pathway","Apelin signaling pathway","AGE-RAGE signaling pathway in diabetic complications"]	21	["Disgenet (Asthma)","CTD (Atherosclerosis)","Disgenet (Atherosclerosis)","Disgenet (Behcet disease)","CTD (Cholelithiasis)","Disgenet (Cholelithiasis)","Disgenet (Ischemic heart disease)","Disgenet (Congestive heart failure)","Disgenet (Coronary artery disease)","Disgenet (Diabetic angiopathies)","CTD (Diabetic neuropathy)","Disgenet (Diabetic neuropathy)"]
EDN1	13	["Atherosclerosis","Cardiomegaly","Cardiomyopathy","Ischemic heart disease","Obstructive airway disease","Congestive heart failure","Diabetic retinopathy","Pulmonary hypertension","Erectile dysfunction","Kidney failure","Preeclampsia","Sleep apnea"]	4	["HIF-1 signaling pathway","Relaxin signaling pathway","AGE-RAGE signaling pathway in diabetic complications","Fluid shear stress and atherosclerosis"]	25	["Disgenet (Asthma)","Disgenet (Atherosclerosis)","CTD (Atrial fibrillation)","Disgenet (Atrial fibrillation)","CTD (Cardiomegaly)","Disgenet (Cardiomyopathy)","CTD (Cardiovascular disease)","Disgenet (Cardiovascular disease)","Disgenet (Ischemic heart disease)","Disgenet (Obstructive airway disease)","Disgenet (Congestive heart failure)","Disgenet (Coronary artery disease)"]
PON1	16	["Age-related macular degeneration","Arteriosclerosis","Atherosclerosis","Cholelithiasis","Ischemic heart disease","Congestive heart failure","Coronary artery vasospasm","Coronary vasospasm","Diabetic angiopathies","Diabetic neuropathy","Diabetic peripheral angiopathy","Diabetic retinopathy"]	0	[]	31	["Disgenet (Alzheimer disease)","Disgenet (Arteriosclerosis)","CTD (Atherosclerosis)","Disgenet (Atherosclerosis)","CTD (Cardiovascular disease)","Disgenet (Cardiovascular disease)","CTD (Cholelithiasis)","Disgenet (Cholelithiasis)","Disgenet (Ischemic heart disease)","Disgenet (Congestive heart failure)","Disgenet (Coronary artery disease)","CTD (Coronary artery disease)"]
CCL2	13	["Atherosclerosis","Hyperinsulinism","Behcet disease","Ischemic heart disease","Liver cirrhosis","Congestive heart failure","Diabetic neuropathy","Pulmonary hypertension","Hyperlipidemia","Hyperlipoproteinemia","Hyperglycemia","Kidney failure"]	3	["AGE-RAGE signaling pathway in diabetic complications","Lipid and atherosclerosis","Fluid shear stress and atherosclerosis"]	30	["Disgenet (Asthma)","CTD (Atherosclerosis)","Disgenet (Atherosclerosis)","Disgenet (Hyperinsulinism)","Disgenet (Behcet disease)","CTD (Cardiovascular disease)","Disgenet (Cardiovascular disease)","Disgenet (Ischemic heart disease)","Disgenet (Congestive heart failure)","Disgenet (Coronary artery disease)","CTD (Coronary artery disease)","CTD (Diabetes mellitus type 2)"]

NOS3 (nitric oxide synthase 3)

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