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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: Heart Septal Defects, Atrial (D006344)
..Starting node ..Atrial Septal Defect 3 (C563540)
Child Nodes:
Sister Nodes:
..3C syndrome (C535313)
..Atrial Septal Defect 1 (C566239)
..Atrial septal defect 2 (C538263)
..Atrial Septal Defect 3 (C563540)
..Atrial Septal Defect 4 (C566963)
..Atrial Septal Defect 5 (C567561)
..Atrial Septal Defect 6 (C567764)
..Atrial Septal Defect Ostium Primum (C548006)
..Atrial Septal Defect Sinus Venosus (C548009)
..Atrial Septal Defect with Atrioventricular Conduction Defects (C566238) 1
..Atrial Septal Defect, Primum Type (C566240)
..Atrial Septal Defect, Secundum Type (C566241)
..Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
..Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..Ciuffo Syndrome (C566733)
..Dursun Syndrome (C567804)
..Foramen Ovale, Patent (D054092)
..Holt-Oram syndrome (C535326)
..Irons Bhan syndrome (C535539)
..Lutembacher Syndrome (D008185)
..Lymphedema, Cardiac Septal Defects, And Characteristic Facies (C567398)
..Oculootofacial Dysplasia (C563682)
..Radial Ray Deficiency, X-Linked (C564523)
..Rapadilino syndrome (C535288)
..Tel Hashomer camptodactyly syndrome (C536953)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1027

Name:

Atrial Septal Defect 3

Definition:

Alternative IDs:

OMIM:614089

ParentIDs:

MESH:D006344

TreeNumbers:

C14.240.400.560.375/C563540 |C14.280.400.560.375/C563540 |C16.131.240.400.560.375/C563540

Synonyms:

ASD3

Slim Mappings:

Cardiovascular disease|Congenital abnormality

Reference:

MedGen: C563540
MeSH: C563540
OMIM: 614089;

Genes: MYH6;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001684	Secundum atrial 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_002471.3(MYH6):c.2459T>A (p.Ile820Asn)	4624	MYH6	Pathogenic	267606903	RCV000015211;	N	MedGen:C1834527,OMIM:614089	14	23863503	23863503	NM_002471.3:c.2459T>A	NP_002462.2:p.Ile820Asn	NC_000014.8:g.23863503A>T	OMIM Allelic Variant:160710.0003	C1834527 614089 Atrial septal defect 3