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 |
|---|---|---|---|---|---|---|---|---|
|
HHT type 1 is only known to be caused by variants in ENG - |
(ENG) | (complete) | ||||||
|
1.Only ~50% of HCM is genetic (can be caused by environment) 2. More than 10 genes can cause HCM (specifically 9 sarcomere genes) |
(MYH7) | (low) |