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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Myocardial Ischemia (D017202)
..Starting node ..Myocardial Infarction (D009203)
Child Nodes:
........Anterior Wall Myocardial Infarction (D056988)
........Coronary Artery Disease, Autosomal Dominant 2 (C567045)
........Coronary Artery Disease, Autosomal Dominant, 1 (C564258)
........Inferior Wall Myocardial Infarction (D056989)
........Myocardial Stunning (D017682)
........No-Reflow Phenomenon (D054318)
........Shock, Cardiogenic (D012770)
Sister Nodes:
..Acute Coronary Syndrome (D054058)
..Angina Pectoris (D000787) 6
..Coronary Disease (D003327) 13
..Myocardial Infarction (D009203) 7
..Myocardial Reperfusion Injury (D015428)
..Myocardial Stunning (D017682)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7630

Name:

Myocardial Infarction

Definition:

NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION).

Alternative IDs:

OMIM:608446|OMIM:608557

ParentIDs:

MESH:D017202

TreeNumbers:

C14.280.647.500 |C14.907.585.500

Synonyms:

Slim Mappings:

Cardiovascular disease

Reference:

MedGen: D009203
MeSH: D009203
OMIM: 608446;

Genes: ESR1; F13A1; F7; GCLC; GCLM; ITGB3; LGALS2; LRP8; LTA; MIAT; OLR1; PSMA6; TNFSF4;

Phenotypes

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001166284.1(CCT7):c.1313C>T (p.Ser438Leu)	10574	CCT7	Pathogenic	587777929	RCV000077778;	N	MedGen:C1838021,OMIM:608446	2	73479931	73479931	NM_001166284.1:c.1313C>T	NP_001159756.1:p.Ser438Leu	NC_000002.11:g.73479931C>T	-	C1838021 608446 Myocardial infarction 1
NM_001130683.3(GUCY1A3):c.488dupT (p.Leu163Phefs)	2982	GUCY1A3	Pathogenic	587777928	RCV000077777;	N	MedGen:C1838021,OMIM:608446	4	156631805	156631805	NM_001130683.3:c.488dupT	NP_001124155.1:p.Leu163Phefs	NC_000004.11:g.156631805dupT	-	C1838021 608446 Myocardial infarction 1
NM_004631.4(LRP8):c.2855G>A (p.Arg952Gln)	7804	LRP8	risk factor	5174	RCV000007411;	N	MedGen:C1838021,OMIM:608446	1	53712727	53712727	NM_004631.4:c.2855G>A	NP_004622.2:p.Arg952Gln	NC_000001.10:g.53712727C>T	OMIM Allelic Variant:602600.0001	C1838021 608446 Myocardial infarction 1