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).

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.


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


ID label description userLabelDictionary outcomeQualifier evidenceLine condition gene statementOutcome


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







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