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	supravalvar aortic stenosis

Disease ID	314
Disease	supravalvar aortic stenosis
Definition	A pathological constriction occurring in the region above the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
Synonym	aortic stenosis supra valvular aortic stenosis supravalv aortic stenosis, supravalvular aortic stenosis, supravalvular [disease/finding] aortic supravalv stenosis aortic supravalvular stenoses aortic supravalvular stenosis stenoses, aortic supravalvular stenosis, aortic supravalvular stenosis, supravalvular aortic supra-aortic stenosis supra-valvular aortic stenosis supravalv aortic stenosis supravalvar aortic stenosis (disorder) supravalvular aortic stenosis supravalvular stenoses, aortic supravalvular stenosis, aortic svas svas - supravalvar aortic stenosis
Orphanet	ORPHANET:3193
OMIM	OMIM:185500
DOID	DOID:1929
ICD10	ICD10CM:Q25.3
UMLS	C0003499
MeSH	D021921
SNOMED-CT	SNOMEDCT_US_2016_09_01:268185002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0242231 \| coronary artery stenosis \| 1 C0175702 \| williams-beuren syndrome \| 1 C0175702 \| williams' syndrome \| 1 C0020445 \| familial hypercholesterolaemia \| 1 C0026266 \| mitral insufficiency \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2006 \| ELN \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2006 \| ELN \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:19) 34 \| ACADM \| 2.212 \| DISEASES 26053 \| AUTS2 \| 2.509 \| DISEASES 9031 \| BAZ1B \| 2.818 \| DISEASES 796 \| CALCA \| 2.018 \| DISEASES 83698 \| CALN1 \| 3.65 \| DISEASES 78987 \| CRELD1 \| 2.417 \| DISEASES 1907 \| EDN2 \| 1.638 \| DISEASES 1908 \| EDN3 \| 1.193 \| DISEASES 10516 \| FBLN5 \| 2.843 \| DISEASES 2200 \| FBN1 \| 4.207 \| DISEASES 2969 \| GTF2I \| 4.585 \| DISEASES 9569 \| GTF2IRD1 \| 4.615 \| DISEASES 3984 \| LIMK1 \| 4.313 \| DISEASES 4094 \| MAF \| 1.096 \| DISEASES 51085 \| MLXIPL \| 1.619 \| DISEASES 1482 \| NKX2-5 \| 1.328 \| DISEASES 9124 \| PDLIM1 \| 6.573 \| DISEASES 80312 \| TET1 \| 1.361 \| DISEASES 114049 \| WBSCR22 \| 3.569 \| DISEASES
Locus	(Waiting for update.)

Disease ID	314
Disease	supravalvar aortic stenosis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:4) HP:0004415 \| Pulmonary artery stenosis HP:0001642 \| Pulmonic stenosis HP:0004381 \| Supravalvular aortic stenosis HP:0004928 \| Peripheral arterial stenosis
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:10) HP:0001999 \| Facial dysmorphism \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0001653 \| Mitral valve insufficiency \| 1 HP:0001714 \| Ventricular hypertrophy \| 1 HP:0005145 \| Narrowing of coronary artery \| 1 HP:0002664 \| Neoplasia \| 1 HP:0011995 \| Atrial septal aneurysm \| 1 HP:0004415 \| Pulmonary artery stenosis \| 1 HP:0001659 \| Aortic insufficiency \| 1 HP:0002617 \| Aneurysmal dilatation \| 1

Disease ID	314
Disease	supravalvar aortic stenosis
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
ELN	-	doi:10.1038/gim.2015.51	Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

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

All Snps(Total Genotypes:24)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137854452	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74056680	C	T
rs137854453	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74060184	C	G,T
rs137854454	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74043901	C	G
rs137854455	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74045278	A	T
rs397516433	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74051747	C	G
rs727503022	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74028230	-	C
rs727503023	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74035412	C	-
rs727503024	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74043886	G	-
rs727503026	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74048197	G	-
rs727503027	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74051748	A	G
rs727503028	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74051812	-	G
rs727503029	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74054715	G	A
rs727503030	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74054770	G	A
rs727503031	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74056273	G	-
rs727503033	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74061138	T	A
rs727503034	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74063224	G	T
rs727503035	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74063370	G	A
rs727503782	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74060487	C	-
rs727503783	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74060498	G	-
rs727504419	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74051841	T	C
rs727504433	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74056328	G	-
rs727504434	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74051922	A	G
rs727504581	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74046732	C	-
rs730880355	NA	2006	ELN	umls:C0003499	CLINVAR	NA	0.378120592	NA	ELN	7	74054732	-	A

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

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0004415	Pulmonary artery stenosis	MP:0012730	abnormal internal carotid artery morphology	any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes
HP:0004381	Supravalvular aortic stenosis	MP:0010641	descending aorta stenosis	diffuse constriction or narrowing of the descending aorta
HP:0001642	Pulmonic stenosis	MP:0010449	heart right ventricle outflow tract stenosis	abnormal constriction or narrowing of part of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk

Mapped by homologous gene(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0004415	Pulmonary artery stenosis	MP:0013241	embryo tissue necrosis	morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage
HP:0004381	Supravalvular aortic stenosis	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0001642	Pulmonic stenosis	MP:0020040	decreased bone ossification	decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance

Disease ID	314
Disease	supravalvar aortic stenosis
Case	(Waiting for update.)