LocusHeterogeneityStatement

A statement about the specificity with which a genetic condition is caused by variants in a particular gene or locus (i.e. whether it is the only known gene associated with the condition, or one or more other genes have been linked to the condition).

SEPIO:0000250
Descended from Statement

Scope and Usage

The gene-specificity for a condition is low if the condition can be caused by other genes or factors, and high/complete if mutations in the gene are only known cause.

Attributes

Name Type Cardinality Description IRI Defined in
condition GeneticCondition 1..1 The condition for which the eitiology is defined SEPIO:0000276 LocusHeterogeneityStatement
gene @id 1..1 Gene that causes the condition SEPIO:0000278 LocusHeterogeneityStatement
statementOutcome @id 1..1 Specificity of the Gene for the Condition SEPIO:0000197 LocusHeterogeneityStatement
label string 0..1 A name given to the resource. RDFS:label Entity
description string 0..1 Description may include but is not limited to: an abstract, a table of contents, a graphical representation, or a free-text account of the resource. DC:description Entity
userLabelDictionary UserLabel 0..* An optional label defined by the user. Used for custom entities or to clarify the preferred user label on existing entities with non-preferred labels. SEPIO:0000422 Statement
outcomeQualifier string 0..1 Use “NOT” as the value of this property to assert that the statement is negated. SEPIO:0000346 Statement
evidenceLine EvidenceLine 0..* supporting evidence SEPIO:0000006 Statement
contribution Contribution 0..* The contributions (agent, time and role) made to this entity SEPIO:0000159 Statement
source string 0..* A string indicating the source of a Statement DC:source Statement

Instances

ID label description userLabelDictionary outcomeQualifier evidenceLine condition gene statementOutcome

CGEX:LocHet148

HHT type 1 is only known to be caused by variants in ENG -

CGEX:GenCond022

HGNC:3349

(ENG)

SEPIO-CG:99002

(complete)

CGEX:LocHet149

1.Only ~50% of HCM is genetic (can be caused by environment) 2. More than 10 genes can cause HCM (specifically 9 sarcomere genes)

CGEX:GenCond064

HGNC:7577

(MYH7)

SEPIO:0000273

(low)