PedAM

Pediatric Disease Annotations & Medicines


	vascular hemostatic disease

Disease ID	1659
Disease	vascular hemostatic disease
Definition	Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of BLOOD VESSELS, blood fluidity, and BLOOD COAGULATION. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the VASCULAR ENDOTHELIUM, the plasma proteins (including BLOOD COAGULATION FACTORS), and PLATELETS.
Synonym	disorder, vascular hemostatic disorders, vascular hemostatic hemostatic disorder, vascular hemostatic disorders hemostatic disorders [disease/finding] hemostatic disorders, vascular vascular haemostatic disease vascular hemostatic dis vascular hemostatic disease (disorder) vascular hemostatic disease, nos vascular hemostatic disorder vascular hemostatic disorders
DOID	DOID:484
UMLS	C0600502
MeSH	D020141
SNOMED-CT	SNOMEDCT_US_2016_09_01:21112004
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:102) 10301 \| DLEU1 \| DISEASES 2519 \| FUCA2 \| DISEASES 84245 \| MRI1 \| DISEASES 3053 \| SERPIND1 \| DISEASES 5054 \| SERPINE1 \| DISEASES 7431 \| VIM \| DISEASES 55856 \| ACOT13 \| DISEASES 1088 \| CEACAM8 \| DISEASES 5911 \| RAP2A \| DISEASES 968 \| CD68 \| DISEASES 5908 \| RAP1B \| DISEASES 325 \| APCS \| DISEASES 1144 \| CHRND \| DISEASES 3442 \| IFNA5 \| DISEASES 6386 \| SDCBP \| DISEASES 1134 \| CHRNA1 \| DISEASES 7450 \| VWF \| DISEASES 6558 \| SLC12A2 \| DISEASES 9368 \| SLC9A3R1 \| DISEASES 8455 \| ATRN \| DISEASES 10133 \| OPTN \| DISEASES 2033 \| EP300 \| DISEASES 3791 \| KDR \| DISEASES 5443 \| POMC \| DISEASES 4437 \| MSH3 \| DISEASES 320 \| APBA1 \| DISEASES 2515 \| ADAM2 \| DISEASES 7157 \| TP53 \| DISEASES 6531 \| SLC6A3 \| DISEASES 2702 \| GJA5 \| DISEASES 5352 \| PLOD2 \| DISEASES 9510 \| ADAMTS1 \| DISEASES 2776 \| GNAQ \| DISEASES 1145 \| CHRNE \| DISEASES 7039 \| TGFA \| DISEASES 64320 \| RNF25 \| DISEASES 213 \| ALB \| DISEASES 719 \| C3AR1 \| DISEASES 3689 \| ITGB2 \| DISEASES 1140 \| CHRNB1 \| DISEASES 2147 \| F2 \| DISEASES 947 \| CD34 \| DISEASES 9743 \| ARHGAP32 \| DISEASES 8557 \| TCAP \| DISEASES 713 \| C1QB \| DISEASES 3078 \| CFHR1 \| DISEASES 3039 \| HBA1 \| DISEASES 64764 \| CREB3L2 \| DISEASES 8303 \| SNN \| DISEASES 9939 \| RBM8A \| DISEASES 2152 \| F3 \| DISEASES 54821 \| ERCC6L \| DISEASES 9138 \| ARHGEF1 \| DISEASES 23583 \| SMUG1 \| DISEASES 51337 \| THEM6 \| DISEASES 1528 \| CYB5A \| DISEASES 2701 \| GJA4 \| DISEASES 53827 \| FXYD5 \| DISEASES 889 \| KRIT1 \| DISEASES 7316 \| UBC \| DISEASES 5906 \| RAP1A \| DISEASES 6525 \| SMTN \| DISEASES 23644 \| EDC4 \| DISEASES 23607 \| CD2AP \| DISEASES 2157 \| F8 \| DISEASES 6238 \| RRBP1 \| DISEASES 58 \| ACTA1 \| DISEASES 1380 \| CR2 \| DISEASES 10877 \| CFHR4 \| DISEASES 462 \| SERPINC1 \| DISEASES 10767 \| HBS1L \| DISEASES 4288 \| MKI67 \| DISEASES 8771 \| TNFRSF6B \| DISEASES 5236 \| PGM1 \| DISEASES 8813 \| DPM1 \| DISEASES 7422 \| VEGFA \| DISEASES 2517 \| FUCA1 \| DISEASES 714 \| C1QC \| DISEASES 712 \| C1QA \| DISEASES 177 \| AGER \| DISEASES 53358 \| SHC3 \| DISEASES 6839 \| SUV39H1 \| DISEASES 353116 \| RILPL1 \| DISEASES 7905 \| REEP5 \| DISEASES 3440 \| IFNA2 \| DISEASES 83605 \| CCM2 \| DISEASES 7053 \| TGM3 \| DISEASES 192668 \| CYS1 \| DISEASES 55576 \| STAB2 \| DISEASES 2175 \| FANCA \| DISEASES 11235 \| PDCD10 \| DISEASES 3426 \| CFI \| DISEASES 6164 \| RPL34 \| DISEASES 174 \| AFP \| DISEASES 57703 \| CWC22 \| DISEASES 25821 \| MTO1 \| DISEASES 6628 \| SNRPB \| DISEASES 6513 \| SLC2A1 \| DISEASES 1379 \| CR1L \| DISEASES 2053 \| EPHX2 \| DISEASES 7033 \| TFF3 \| DISEASES 102723508 \| KANTR \| DISEASES
Locus	(Waiting for update.)

Disease ID	1659
Disease	vascular hemostatic disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1659
Disease	vascular hemostatic disease
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs386626619	24951423	3717	JAK2	umls:C0600502	BeFree	JAK2(V617F), the main mutation involved in MPN, is considered as a risk factor for thrombosis, although the direct link between the mutation and hemostatic disorders is not strictly established.	0.000271442	2015	NA	NA	NA	NA	NA
rs77375493	24951423	3717	JAK2	umls:C0600502	BeFree	JAK2(V617F), the main mutation involved in MPN, is considered as a risk factor for thrombosis, although the direct link between the mutation and hemostatic disorders is not strictly established.	0.000271442	2015	JAK2;INSL6	9	5073770	G	A,T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:28)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
1	37958813	rs9253	C	G	rs9253	17903294	4.00E-06	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
1	72071129	rs10493485	A	T	rs10493485	17903294	2.00E-06	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
1	159453937	rs4133289	C	T	rs4133289	17903294	2.00E-07	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
1	169491555	rs2420371	G	A	rs2420371	22443383	4.00E-80	ACVn ratio	1.16	[1.04-1.28] unit decrease	951 European ancestry individuals	European(951)	ALL(951)	EUR(951)	ALL(951)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
2	53237320	rs1160297	G	C	rs1160297	17903294	1.00E-06	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
2	53266129	rs2357013	C	T	rs2357013	17903294	6.00E-06	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
3	108243551	rs2603127	G	A	rs2603127	22443383	5.00E-06	AT levels	2.79	[1.59-3.99] iu/ml increase	951 European ancestry individuals	European(951)	ALL(951)	EUR(951)	ALL(951)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
4	703813	rs4690187	C	T	rs4690187	22443383	7.08E-06	NA	NA	NA	951 European ancestry individuals	European(951)	ALL(951)	EUR(951)	ALL(951)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
4	735150	rs4234853	G	A	rs4234853	22443383	6.00E-06	PS levels	4.88	[2.76-7.00] iu/ml decrease	951 European ancestry individuals	European(951)	ALL(951)	EUR(951)	ALL(951)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
4	13794416	rs10489087	G	A	rs10489087	17903294	5.00E-06	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
5	98781103	rs1829883	C	T	rs1829883	17903294	6.00E-06	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
5	109496960	rs4460176	T	A,G	rs4460176	17903294	3.00E-06	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
6	149525606	rs636864	C	T	rs636864	17903294	6.00E-06	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
6	149593920	rs727979	C	T	rs727979	17903294	8.00E-06	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
8	122908503	rs7844723	C	T	rs7844723	17903294	2.00E-06	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
10	37559580	rs1200821	A	G	rs1200821	17903294	6.00E-06	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
10	126144179	rs2459210	A	C	rs2459210	22443383	9.00E-06	PS levels	4.35	[2.43-6.27] iu/ml increase	951 European ancestry individuals	European(951)	ALL(951)	EUR(951)	ALL(951)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
11	44603328	rs730129	A	G	rs730129	22443383	7.00E-06	AT levels	2.55	[1.43-3.67] iu/ml decrease	951 European ancestry individuals	European(951)	ALL(951)	EUR(951)	ALL(951)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
11	56466099	rs1397048	C	T	rs1397048	17903294	7.00E-08	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
11	122189465	rs565229	G	A	rs565229	17903294	4.00E-06	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
12	63445092	rs10506458	G	A	rs10506458	17903294	5.00E-06	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
12	118893248	rs11613092	C	T	rs11613092	22443383	6.00E-06	PS levels	8.16	[4.63-11.69] iu/ml increase	951 European ancestry individuals	European(951)	ALL(951)	EUR(951)	ALL(951)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
14	41523462	rs1959947	A	G	rs1959947	22443383	7.00E-06	PS levels	4.76	[2.68-6.84] iu/ml increase	951 European ancestry individuals	European(951)	ALL(951)	EUR(951)	ALL(951)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
14	47863835	rs7159841	C	T	rs7159841	17903294	2.00E-07	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
14	98642572	rs10484128	C	A,G,T	rs10484128	17903294	6.00E-06	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
20	7552504	rs6108011	C	T	rs6108011	17903294	6.00E-06	NA	NA	NA	1,000 individuals(Framingham)	Framingham(1000)	ALL(1000)	EUR(1000)	ALL(1000)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
20	33545616	rs17310467	A	G	rs17310467	22443383	4.00E-34	NA	19.27	[16.174-22.372] IU/ml increase	951 European ancestry individuals	European(951)	ALL(951)	EUR(951)	ALL(951)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633
20	33764554	rs867186	A	G	rs867186	22443383	2.00E-06	ACVn ratio	0.37	[0.21-0.53] unit increase	951 European ancestry individuals	European(951)	ALL(951)	EUR(951)	ALL(951)	Hemostatic factors and hematological phenotypes	HPOID:0011028	HPOID:0001928	Abnormality of blood circulation	Abnormality of coagulation	DOID:484	DOID:3393	DOID:2348	vascular hemostatic disease	coronary artery disease	arteriosclerotic cardiovascular disease	D020141	Hemostatic Disorders	EFOID:0004633

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0600502	cyclosporine	D016572	59865-13-3	hemostatic disorders	MESH:D020141	marker/mechanism	2859508

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)