Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2022
Gene name Gene Name - the full gene name approved by the HGNC.	Endoglin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ENG
Synonyms (NCBI Gene) Gene synonyms aliases	END, HHT1, ORW1
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.11
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high aff

Show/Hide all(22)

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606783	A>C,G	Pathogenic	Initiator codon variant, missense variant, genic upstream transcript variant
rs368423516	C>G,T	Likely-benign, pathogenic	Genic upstream transcript variant, 5 prime UTR variant
rs369596004	C>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs755348996	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs773334730	G>A,C	Likely-pathogenic	Intron variant
rs878853658	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs878853659	C>T	Pathogenic-likely-pathogenic, pathogenic	Splice acceptor variant
rs1060501408	G>A	Pathogenic	5 prime UTR variant, genic upstream transcript variant
rs1060501418	T>C,G	Likely-pathogenic, pathogenic	Initiator codon variant, genic upstream transcript variant, missense variant
rs1252348200	C>A,T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1554812252	C>G	Pathogenic	Intron variant
rs1554812253	C>T	Pathogenic	Splice donor variant
rs1554812283	GCTG>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1554813783	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1554813788	A>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1564462765	C>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1564462827	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1564466393	TGGCCAGCAGC>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1564466414	A>G	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1588596830	C>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1588596879	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1588604603	GTCCATGCTGTCCACG>-	Likely-pathogenic	5 prime UTR variant, initiator codon variant, frameshift variant, genic upstream transcript variant

Show/Hide all(110)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032385	hsa-let-7b-5p	Proteomics	18668040
MIRT493966	hsa-miR-4781-5p	PAR-CLIP	23592263
MIRT493965	hsa-miR-6823-5p	PAR-CLIP	23592263
MIRT493964	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT493963	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT493962	hsa-miR-658	PAR-CLIP	23592263
MIRT493961	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT493960	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT493959	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT493958	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT493957	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT493956	hsa-miR-3180	PAR-CLIP	23592263
MIRT493955	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT493954	hsa-miR-3196	PAR-CLIP	23592263
MIRT493953	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT493952	hsa-miR-1228-5p	PAR-CLIP	23592263
MIRT731363	hsa-miR-342-5p	Luciferase reporter assay	26857067
MIRT731363	hsa-miR-342-5p	Luciferase reporter assay	26857067
MIRT493966	hsa-miR-4781-5p	PAR-CLIP	23592263
MIRT493965	hsa-miR-6823-5p	PAR-CLIP	23592263
MIRT493964	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT493963	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT493962	hsa-miR-658	PAR-CLIP	23592263
MIRT493961	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT493960	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT493959	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT493958	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT493957	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT493956	hsa-miR-3180	PAR-CLIP	23592263
MIRT493955	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT493954	hsa-miR-3196	PAR-CLIP	23592263
MIRT493953	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT493952	hsa-miR-1228-5p	PAR-CLIP	23592263
MIRT963476	hsa-miR-31	CLIP-seq
MIRT963477	hsa-miR-3126-5p	CLIP-seq
MIRT963478	hsa-miR-3151	CLIP-seq
MIRT963479	hsa-miR-3545-5p	CLIP-seq
MIRT963480	hsa-miR-3688-5p	CLIP-seq
MIRT963481	hsa-miR-4447	CLIP-seq
MIRT963482	hsa-miR-4472	CLIP-seq
MIRT963483	hsa-miR-4527	CLIP-seq
MIRT963484	hsa-miR-4651	CLIP-seq
MIRT963485	hsa-miR-4664-5p	CLIP-seq
MIRT963486	hsa-miR-491-5p	CLIP-seq
MIRT963487	hsa-miR-608	CLIP-seq
MIRT1548340	hsa-miR-331-3p	CLIP-seq
MIRT1548341	hsa-miR-4421	CLIP-seq
MIRT1548342	hsa-miR-4722-3p	CLIP-seq
MIRT1985579	hsa-miR-1236	CLIP-seq
MIRT1985580	hsa-miR-1285	CLIP-seq
MIRT1985581	hsa-miR-1587	CLIP-seq
MIRT1985582	hsa-miR-296-5p	CLIP-seq
MIRT1985583	hsa-miR-3187-5p	CLIP-seq
MIRT1985584	hsa-miR-378g	CLIP-seq
MIRT1985585	hsa-miR-4486	CLIP-seq
MIRT1985586	hsa-miR-4492	CLIP-seq
MIRT1985587	hsa-miR-4498	CLIP-seq
MIRT1985588	hsa-miR-4505	CLIP-seq
MIRT1985589	hsa-miR-4656	CLIP-seq
MIRT1985590	hsa-miR-4675	CLIP-seq
MIRT1985591	hsa-miR-4741	CLIP-seq
MIRT1985592	hsa-miR-4753-3p	CLIP-seq
MIRT1985593	hsa-miR-612	CLIP-seq
MIRT1985594	hsa-miR-762	CLIP-seq
MIRT1985595	hsa-miR-942	CLIP-seq
MIRT2523829	hsa-miR-1207-3p	CLIP-seq
MIRT2523830	hsa-miR-1228	CLIP-seq
MIRT2523831	hsa-miR-1321	CLIP-seq
MIRT2523832	hsa-miR-1825	CLIP-seq
MIRT2523833	hsa-miR-1915	CLIP-seq
MIRT2523834	hsa-miR-1976	CLIP-seq
MIRT2523835	hsa-miR-214	CLIP-seq
MIRT2523836	hsa-miR-3202	CLIP-seq
MIRT2523837	hsa-miR-3619-5p	CLIP-seq
MIRT2523838	hsa-miR-370	CLIP-seq
MIRT2523839	hsa-miR-377	CLIP-seq
MIRT2523840	hsa-miR-3921	CLIP-seq
MIRT2523841	hsa-miR-4251	CLIP-seq
MIRT2523842	hsa-miR-4264	CLIP-seq
MIRT2523843	hsa-miR-4329	CLIP-seq
MIRT2523844	hsa-miR-4419a	CLIP-seq
MIRT2523845	hsa-miR-4467	CLIP-seq
MIRT2523846	hsa-miR-4510	CLIP-seq
MIRT2523847	hsa-miR-4650-5p	CLIP-seq
MIRT2523848	hsa-miR-4653-5p	CLIP-seq
MIRT2523849	hsa-miR-4690-5p	CLIP-seq
MIRT2523850	hsa-miR-4726-3p	CLIP-seq
MIRT2523851	hsa-miR-4739	CLIP-seq
MIRT2523852	hsa-miR-4747-5p	CLIP-seq
MIRT2523853	hsa-miR-4756-5p	CLIP-seq
MIRT2523854	hsa-miR-4757-5p	CLIP-seq
MIRT2523855	hsa-miR-622	CLIP-seq
MIRT2523856	hsa-miR-761	CLIP-seq
MIRT2523857	hsa-miR-767-3p	CLIP-seq
MIRT2523858	hsa-miR-885-3p	CLIP-seq
MIRT2523829	hsa-miR-1207-3p	CLIP-seq
MIRT2523830	hsa-miR-1228	CLIP-seq
MIRT2523832	hsa-miR-1825	CLIP-seq
MIRT2523833	hsa-miR-1915	CLIP-seq
MIRT2523834	hsa-miR-1976	CLIP-seq
MIRT2523838	hsa-miR-370	CLIP-seq
MIRT2523839	hsa-miR-377	CLIP-seq
MIRT2523842	hsa-miR-4264	CLIP-seq
MIRT2523845	hsa-miR-4467	CLIP-seq
MIRT1985585	hsa-miR-4486	CLIP-seq
MIRT2680044	hsa-miR-4649-5p	CLIP-seq
MIRT2523850	hsa-miR-4726-3p	CLIP-seq
MIRT2680045	hsa-miR-4731-5p	CLIP-seq
MIRT2523855	hsa-miR-622	CLIP-seq
MIRT2523857	hsa-miR-767-3p	CLIP-seq

Transcription factors

Show/Hide all(3)

Transcription factor	Regulation	Reference
ERG	Activation	22235125
ERG	Unknown	19359602
SP1	Activation	21146604

Show/Hide all(110)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	18974388
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	ISS	8194490
GO:0001570	Process	Vasculogenesis	IBA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001570	Process	Vasculogenesis	IMP	7894484
GO:0001666	Process	Response to hypoxia	IDA	18156205
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IMP	18974388
GO:0001947	Process	Heart looping	IEA
GO:0001947	Process	Heart looping	ISS	8194490
GO:0002040	Process	Sprouting angiogenesis	ISS
GO:0003084	Process	Positive regulation of systemic arterial blood pressure	IMP	18974388
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	IEA
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:0003203	Process	Endocardial cushion morphogenesis	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003208	Process	Cardiac ventricle morphogenesis	IEA
GO:0003208	Process	Cardiac ventricle morphogenesis	ISS
GO:0003209	Process	Cardiac atrium morphogenesis	IEA
GO:0003209	Process	Cardiac atrium morphogenesis	ISS
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	IEA
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	ISS
GO:0003273	Process	Cell migration involved in endocardial cushion formation	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	NAS	18974388
GO:0005114	Function	Type II transforming growth factor beta receptor binding	IPI	12015308
GO:0005114	Function	Type II transforming growth factor beta receptor binding	ISS	8294451
GO:0005515	Function	Protein binding	IPI	9872992, 15702480, 20856203, 22940691, 23868260, 28564608, 31540324
GO:0005534	Function	Galactose binding	IDA	3262645
GO:0005539	Function	Glycosaminoglycan binding	IDA	3262645
GO:0005539	Function	Glycosaminoglycan binding	ISS	8294451
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	19004009
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	15702480
GO:0007155	Process	Cell adhesion	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	18223685
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	12015308, 18223685
GO:0007507	Process	Heart development	IEA
GO:0009897	Component	External side of plasma membrane	IDA	1537377
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	18223685
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0010665	Process	Regulation of cardiac muscle cell apoptotic process	ISS
GO:0015026	Function	Coreceptor activity	IDA	18223685
GO:0015026	Function	Coreceptor activity	IPI	12015308
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IMP	18223685
GO:0016604	Component	Nuclear body	IDA
GO:0017015	Process	Regulation of transforming growth factor beta receptor signaling pathway	IDA	15702480
GO:0022009	Process	Central nervous system vasculogenesis	IMP	7894484
GO:0022617	Process	Extracellular matrix disassembly	IMP	18223685
GO:0030155	Process	Regulation of cell adhesion	TAS	11382917
GO:0030336	Process	Negative regulation of cell migration	IDA	19736306
GO:0030509	Process	BMP signaling pathway	TAS	11382917
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	TAS	11382917
GO:0030513	Process	Positive regulation of BMP signaling pathway	IDA	17068149
GO:0030546	Function	Signaling receptor activator activity	IDA	12015308
GO:0034713	Function	Type I transforming growth factor beta receptor binding	IPI	12015308, 18974388
GO:0034713	Function	Type I transforming growth factor beta receptor binding	ISS	8294451
GO:0035912	Process	Dorsal aorta morphogenesis	IEA
GO:0035912	Process	Dorsal aorta morphogenesis	ISS
GO:0036122	Function	BMP binding	IPI	9872992
GO:0042060	Process	Wound healing	IMP	18223685
GO:0042127	Process	Regulation of cell population proliferation	TAS	11382917
GO:0042802	Function	Identical protein binding	IPI	28564608
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	8370410
GO:0043235	Component	Receptor complex	IPI	9872992
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18974388
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048185	Function	Activin binding	TAS	11382917
GO:0048745	Process	Smooth muscle tissue development	IEA
GO:0048745	Process	Smooth muscle tissue development	ISS	8194490
GO:0048844	Process	Artery morphogenesis	IEA
GO:0048844	Process	Artery morphogenesis	ISS	8194490
GO:0048845	Process	Venous blood vessel morphogenesis	IEA
GO:0048845	Process	Venous blood vessel morphogenesis	ISS	8194490
GO:0048870	Process	Cell motility	IMP	18223685
GO:0050431	Function	Transforming growth factor beta binding	IEA
GO:0050431	Function	Transforming growth factor beta binding	IPI	9872992
GO:0050431	Function	Transforming growth factor beta binding	IPI	1326540, 8370410
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI	26857067
GO:0055009	Process	Atrial cardiac muscle tissue morphogenesis	IEA
GO:0055009	Process	Atrial cardiac muscle tissue morphogenesis	ISS
GO:0060326	Process	Cell chemotaxis	IMP	18223685
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	12015308
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IMP	18974388
GO:0060392	Process	Negative regulation of SMAD protein signal transduction	IMP	18974388
GO:0070483	Process	Detection of hypoxia	IDA	18156205
GO:0072563	Component	Endothelial microparticle	IEA
GO:0090500	Process	Endocardial cushion to mesenchymal transition	ISS
GO:0097084	Process	Vascular associated smooth muscle cell development	IEA
GO:0097084	Process	Vascular associated smooth muscle cell development	ISS
GO:1905007	Process	Positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	IEA
GO:1905007	Process	Positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:1905065	Process	Positive regulation of vascular associated smooth muscle cell differentiation	IEA
GO:1905065	Process	Positive regulation of vascular associated smooth muscle cell differentiation	ISS
GO:1905222	Process	Atrioventricular canal morphogenesis	IEA
GO:1905222	Process	Atrioventricular canal morphogenesis	ISS
GO:1905310	Process	Regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis	ISS
GO:2000136	Process	Regulation of cell proliferation involved in heart morphogenesis	ISS

MIM	HGNC	e!Ensembl
131195	3349	ENSG00000106991

Protein

UniProt ID

P17813

Protein name

Endoglin (CD antigen CD105)

Protein function

Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of va

PDB

5HZV , 5HZW , 5I04

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00100	Zona_pellucida	363 → 563	Zona pellucida-like domain	Family

Tissue specificity

TISSUE SPECIFICITY: Detected on umbilical veil endothelial cells (PubMed:10625079). Detected in placenta (at protein level) (PubMed:1692830). Detected on endothelial cells (PubMed:1692830). {ECO:0000269|PubMed:10625079, ECO:0000269|PubMed:1692830}.

Sequence

MDRGTLPLAVALLLASCSLSPTSLAETVHCDLQPVGPERGEVTYTTSQVSKGCVAQAPNA
ILEVHVLFLEFPTGPSQLELTLQASKQNGTWPREVLLVLSVNSSVFLHLQALGIPLHLAY
NSSLVTFQEPPGVNTTELPSFPKTQILEWAAERGPITSAAELNDPQSILLRLGQAQGSLS
FCMLEASQDMGRTLEWRPRTPALVRGCHLEGVAGHKEAHILRVLPGHSAGPRTVTVKVEL
SCAPGDLDAVLILQGPPYVSWLIDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLL
GEARMLNASIVASFVELPLASIVSLHASSCGGRLQTSPAPIQTTPPKDTCSPELLMSLIQ
TKCADDAMTLVLKKELVAHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASM
ISNEAVVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVS
PSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVP
IPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAF
LIGALLTAALWYIYSHTRSPSKREPVVAVAAPASSESSSTNHSIGSTQSTPCSTSSMA

Sequence length

658

Interactions

View interactions

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hereditary Hemorrhagic Telangiectasia	hereditary hemorrhagic telangiectasia	rs1554810177, rs1830384447, rs1588574749, rs1564452685, rs1564457752, rs863223538, rs1554809513, rs1830599875, rs1131691444, rs1588585880, rs1060501419, rs1564452759, rs863223532, rs1554809348, rs1554810490 View all (136 more)	N/A
Pulmonary arterial hypertension	pulmonary arterial hypertension	rs886039506, rs374644720, rs1588573831	N/A
pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	rs1085307435, rs1085307434, rs1085307433, rs1085307432, rs1085307430	N/A
Pulmonary Hypertension	pulmonary hypertension, primary, 1	rs1085307436	N/A
Telangiectasia	telangiectasia, hereditary hemorrhagic, type 1	rs886039506, rs1588581902, rs1564455715, rs1060501418, rs1554813783, rs1588581497, rs267606783, rs1329127701, rs1060501410, rs864622666, rs1554810490, rs1588582666, rs1554810510, rs1830384910, rs121918401 View all (57 more)	N/A
cerebral arteriovenous malformation	Cerebral arteriovenous malformation	rs1554810174	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Galloway-Mowat Syndrome	galloway-mowat syndrome 1	N/A	N/A	ClinVar
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Polyposis Syndrome	juvenile polyposis syndrome	N/A	N/A	GenCC
Pulmonary Arterial Hypertension Associated With Congenital Heart Disease	pulmonary arterial hypertension associated with congenital heart disease	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (169)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	23893879
Adenocarcinoma of Lung	Associate	28178989, 33661044, 35635202
Adjustment Disorders	Associate	21078485
Arteriovenous Fistula	Associate	33353465
Arteriovenous Malformations	Associate	10702408, 16155196, 18673552, 19508727, 26041630, 29048420, 31510822, 32503579, 32847536, 39939156, 8728706
Arteriovenous Malformations	Stimulate	12843319, 12920067
Arthritis Psoriatic	Associate	9498020
Arthritis Rheumatoid	Stimulate	12009077
Atherosclerosis	Associate	16733295, 28901429, 34602076
Bicuspid Aortic Valve Disease	Associate	20098615
Brain Abscess	Associate	17224686, 23440993, 30251589
Brain Neoplasms	Associate	24699047
Breast Neoplasms	Associate	15274325, 21078485, 21249485, 21527583, 28944897, 29243782, 33819300
Bronchiolitis Obliterans Syndrome	Stimulate	36614087
Bronchopulmonary Dysplasia	Associate	18420967, 23279628
Carcinoma Hepatocellular	Associate	15633211, 17608955, 39344331
Carcinoma Hepatocellular	Stimulate	27268609
Carcinoma Renal Cell	Associate	24699047
Carcinoma Squamous Cell	Associate	24699047
Cardiomyopathy Hypertrophic	Associate	22869457
Cardiovascular Diseases	Associate	26786759, 32523017
Cerebral Small Vessel Diseases	Associate	36672223
Chondrosarcoma	Associate	23088614
Choriocarcinoma	Associate	19079545
Choroidal Effusions	Associate	21078485, 21350924
Chromosome Disorders	Associate	26395556
Colitis Ulcerative	Associate	29556626
Colonic Neoplasms	Associate	14657950, 31983119
Colonic Polyps	Associate	23399955
Colorectal Neoplasms	Associate	14657950, 32434528
Coronary Artery Disease	Associate	34602076
Cystic Fibrosis	Stimulate	23516586
Death	Associate	27102204
Dermatomyositis	Inhibit	40140985
Diabetes Mellitus Type 1	Associate	19395281
Diabetic Nephropathies	Associate	19395281, 33081058
Diabetic Nephropathies	Stimulate	36614087
Diabetic Retinopathy	Associate	33683746
Drug Resistant Epilepsy	Inhibit	23341958
Dyskinesia Familial with Facial Myokymia	Associate	29048420
Dystonic Disorders	Associate	22722545
Eclampsia	Associate	29565476
Endometrial Neoplasms	Associate	17442020, 24420153
Endometriosis	Stimulate	11704111
Endometriosis	Associate	34541637
Epilepsy	Associate	22722545
Epistaxis	Stimulate	12920067
Epistaxis	Associate	26395556, 30251589
Esophageal Neoplasms	Associate	23893879
Esophageal Squamous Cell Carcinoma	Associate	18023103, 23893879
Eye Diseases	Associate	32600370
Eye Infections Fungal	Associate	32600370
Facial Dysmorphism with Multiple Malformations	Associate	26395556
Familial Primary Pulmonary Hypertension	Associate	23298310
Fetal Growth Retardation	Stimulate	18156205
Fetal Growth Retardation	Associate	21810232, 35090410
Fibrosis	Associate	12009422, 27268609, 33081058
Fibrosis	Stimulate	36614087
Focal cortical dysplasia of Taylor	Associate	32847536
Ganglioneuroma	Associate	23399955
Gastro enteropancreatic neuroendocrine tumor	Associate	21245995
Gastrointestinal Hemorrhage	Stimulate	16164574
Gastrointestinal Stromal Tumors	Associate	26078569
Genetic Diseases Inborn	Associate	10951214, 14684682, 9521591
Glioblastoma	Associate	29643433, 33471197
Glomerulonephritis	Associate	12009422
Graves Disease	Stimulate	7586686
Hashimoto Disease	Stimulate	7586686
Heart Defects Congenital	Associate	23298310
Heart Diseases	Associate	29565476, 36902347
Heart Failure	Associate	21126621
Hemangioma Cavernous Central Nervous System	Associate	28181149
Hematologic Diseases	Associate	23341958
Hepatitis C	Associate	28794048
Hepatopulmonary Syndrome	Associate	20346360
Hypertension	Stimulate	33081058
Hypertension Pulmonary	Associate	26820968
Hypothyroidism Congenital Nongoitrous 2	Stimulate	34541637
Hypoxia	Stimulate	18156205, 21641407, 36672223
Hypoxia	Associate	21249485
Idiopathic Noncirrhotic Portal Hypertension	Associate	27268609
Infarction	Associate	36672223
Inflammation	Associate	24777481, 28901429, 35880176
Inflammation	Inhibit	26084222
Inflammation	Stimulate	9498020
Intellectual Disability	Associate	22722545
Intestinal Polyposis	Associate	23399955
Intracranial Aneurysm	Associate	19299629
Intracranial Arteriovenous Malformations	Associate	10702408, 17388964, 25847705, 29897969, 32503579, 36198763
Intracranial Arteriovenous Malformations	Stimulate	26041630
Intracranial Hemorrhages	Associate	22991266
Ischemia	Associate	36672223
Ischemic Attack Transient	Associate	32847536
Kidney Diseases	Associate	12009422
Kidney Failure Chronic	Associate	26325105, 36614087
Leukemia Lymphocytic Chronic B Cell	Associate	35044512
Leukemia Myeloid	Associate	35044512
Leukemia Myeloid Acute	Associate	34958004
Leydig Cell Tumor	Associate	21126344
Liver Cirrhosis	Associate	23516586, 33081058
Liver Failure	Stimulate	23516586
Lung Neoplasms	Associate	26325105
Lymphatic Metastasis	Associate	14657950, 29243782
Lymphatic Metastasis	Stimulate	34587660
Lymphoma Non Hodgkin	Associate	22311740
Malformations of Cortical Development	Associate	32847536
Microvascular Angina	Associate	18420967
Multiple Organ Failure	Associate	22768148
Myelodysplastic Syndromes	Associate	23341958
Myopathies Structural Congenital	Associate	36580209
Myotonic Dystrophy	Inhibit	35751644
Neoplasm Invasiveness	Stimulate	14657950
Neoplasm Metastasis	Associate	14657950, 17579118, 21245995, 28794048, 32434528, 35955799
Neoplasm Metastasis	Inhibit	23967299
Neoplasms	Stimulate	11407902
Neoplasms	Associate	14657950, 15274325, 16733295, 21078485, 21245995, 21350924, 23088614, 23893879, 24777481, 27102733, 27255356, 27268609, 28390134, 28564608, 28794048 View all (13 more)
Neoplasms	Inhibit	26325105
Neoplasms Squamous Cell	Associate	30488859
Neurologic Manifestations	Associate	17388964
Odontogenic Cysts	Associate	21821445
Osteoarthritis	Associate	20833252
Ovarian Neoplasms	Associate	21350924, 22142828, 23917399
Pancreatic Neoplasms	Associate	29258566, 36896836
Pancreatic Neoplasms	Inhibit	37338014
Persistent Fetal Circulation Syndrome	Associate	34678164
Personality Disorders	Associate	35955799
Peutz Jeghers Syndrome	Associate	23399955
Plasmacytoma anaplastic	Associate	12930383
Polyps	Associate	24312718
Pre Eclampsia	Associate	18156205, 18443340, 19079545, 21183218, 21810232, 22768148, 23437230, 24777481, 28564608, 30173819, 32566660, 32713274, 34195300, 34937509, 37949031
Pre Eclampsia	Stimulate	22030040, 29565476, 36914823
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	31797971
Preeclamptic toxemia	Associate	27199113
Preeclamptic toxemia	Stimulate	29172779
Prostatic Neoplasms	Inhibit	17496924, 17579118, 23967299
Prostatic Neoplasms	Associate	31648185
Proteinuria	Associate	19168169
Pulmonary Arterial Hypertension	Associate	15115879, 23298310, 26699722, 26820968, 27260700, 27630060, 29350394, 34900561, 35346192
Pulmonary Arterial Hypertension Hereditary Hemorrhagic Telangiectasia Related	Associate	26167679
Pulmonary Arteriovenous Fistulas	Stimulate	26041630
Pulmonary Embolism	Stimulate	26786759
Pulmonary Embolism	Associate	26820968
Radicular Cyst	Associate	21821445
Rectal Neoplasms	Associate	27102733
Renal Insufficiency Chronic	Associate	36614087
Rhabdomyosarcoma	Associate	29304781
Salivary Gland Neoplasms	Associate	35900532
Sarcoma Ewing	Associate	35955799
Scleroderma Systemic	Associate	12009077
Severe Acute Respiratory Syndrome	Stimulate	37949031
Sick Sinus Syndrome	Associate	14657950
Signs and Symptoms Respiratory	Associate	17388964
Skin Abnormalities	Stimulate	12009077
Skin Diseases	Stimulate	9498020
Squamous Cell Carcinoma of Head and Neck	Associate	18758636, 23370231, 29516931
ST Elevation Myocardial Infarction	Associate	35880176
Stroke	Associate	36580209
Telangiectasia Hereditary Benign	Associate	22869457
Telangiectasia Hereditary Hemorrhagic	Associate	10702408, 10899246, 10951214, 11316039, 14684682, 15115879, 16123970, 16155196, 16164574, 16690726, 16785228, 17224686, 17388964, 18654869, 18673552 View all (58 more)
Telangiectasia Hereditary Hemorrhagic	Stimulate	12843319, 12920067
Telangiectasia Hereditary Hemorrhagic	Inhibit	24192008, 24587130, 27638773
Telangiectasis	Stimulate	12920067
Telangiectasis	Associate	23722869, 31450639, 31630786
Urethral Neoplasms	Associate	27328856
Urinary Bladder Neoplasms	Associate	34587660
Uterine Cervical Neoplasms	Associate	19352388
Vascular Diseases	Associate	16785228, 22722545, 22768148, 26084222, 32260307, 32713274
Vascular Malformations	Associate	31630786
Ventricular Dysfunction Left	Associate	21126621

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