DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Ostium secundum atrial septal defect ×

Gene: MYH6 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	4624
Gene Symbol:	MYH6

MYH6

CUI:	C0344724
Disease:	Ostium secundum atrial septal defect

Ostium secundum atrial septal defect

0.600

GermlineCausalMutation

ORPHANET

Mutation in myosin heavy chain 6 causes atrial septal defect.

2005