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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

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Disease Browser
Parent Node: Isolated Noncompaction of the Ventricular Myocardium (D056830)
..Starting node ..Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 (C565821)
Child Nodes:
Sister Nodes:
..Cardiomyopathy, Dilated, with Left Ventricular Noncompaction (C565277)
..LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
..LEFT VENTRICULAR NONCOMPACTION 2 (OMIM:609470)
..Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 (C565821)
..Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 2 (C563712)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8095

Name:

Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1

Definition:

Alternative IDs:

ParentIDs:

MESH:D056830

TreeNumbers:

C14.240.400.660/C565821 |C14.280.238.281.500/C565821 |C14.280.400.660/C565821 |C16.131.077.477/C565821 |C16.131.240.400.655/C565821 |C16.320.322.370/C565821

Synonyms:

Left Ventricular Noncompaction, Isolated, Autosomal Dominant

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)

Reference:

MedGen: C565821
MeSH: C565821
OMIM: 604169;

Genes: DTNA;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005110	Atrial fibrillation
3	HP:0001635	Congestive heart failure
4	HP:0004383	Hypoplastic left heart
5	HP:0001712	Left ventricular hypertrophy
6	HP:0030682	Left ventricular noncompaction
7	HP:0011664	Left ventricular noncompaction cardiomyopathy
8	HP:0001653	Mitral regurgitation
9	HP:0001643	Patent ductus arteriosus
10	HP:0001645	Sudden cardiac death
11	HP:0004308	Ventricular arrhythmia
12	HP:0001629	Ventricular septal defect

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	Disease_hgmd
NM_001390.4(DTNA):c.362C>T (p.Pro121Leu)	1837	DTNA	Pathogenic	104894654	RCV000008804;	N	MedGen:C1858725,OMIM:604169	18	32374214	32374214	NM_001390.4:c.362C>T	NP_001381.2:p.Pro121Leu	NC_000018.9:g.32374214C>T	OMIM Allelic Variant:601239.0001	C1858725 604169 Left ventricular noncompaction 1