Scope and Usage
Attributes
| Name | Type | Cardinality | Description | IRI | Defined in |
|---|---|---|---|---|---|
| condition | GeneticCondition | 1..1 | The condition whose mechanism is being described | SEPIO:0000276 | ConditionMechanismStatement |
| gene | @id | 1..1 | Gene in which the given variants occur | SEPIO:0000278 | ConditionMechanismStatement |
| statementOutcome | @id | 1..1 | SO term for a class of variants | SEPIO:0000197 | ConditionMechanismStatement |
| mechanismConfidence | @id | 0..1 | Qualifier on the Condition/Mechanism pair | SEPIO:0000167 | ConditionMechanismStatement |
| 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 | mechanismConfidence |
|---|---|---|---|---|---|---|---|---|---|
|
Of 178 pathogenic alleles in ClinVar, 149 are missense. |
(MYH7) | (missense variant) | (common) | ||||||
|
HNRNPU is not associated with any conditions, and therefore LOF is not an established mechanism of any condition for this gene. |
(HNRNPU) | (loss of function variant) | (established) | ||||||
|
This is so well-known that it does not require a citation. |
(BRCA2) | (loss of function variant) | (established) | ||||||
|
ClinVar shows 421 variants in BRCA2 that are pathogenic for HBOC. 402 of these (~95%) are frameshift, nonsense, or splice-site variants. |
(BRCA2) | (loss of function variant) | (primary) | ||||||
|
ClinVar shows 61 variants in BRCA2 that are pathogenic for Fanconi Anemia. 55 of these (~90%) are frameshift, nonsense, or splice-site variants. |
(BRCA2) | (loss of function variant) | (primary) | ||||||
|
shown in both humans and mouse models |
(LOXHD1) | (loss of function variant) | (primary) | ||||||
|
Truncating variants in TTN are associated with DCM. However, if missense variants are located in the A-band, impact the A-band, or are in a highly expressed region, they can also be associated with DCM. |
(TTN) | (missense variant) | (established) | ||||||
|
Splice and other loss-of-function variants in DSC2 have been reported in individuals with ARVC (http://arvcdatabase.info/). |
(DSC2) | (loss of function variant) | (established) | ||||||
| (TTN) | (loss of function variant) | (established) | |||||||
| (TTN) | (missense variant) | (common) | |||||||
| (TTN) | (loss of function variant) | (primary) |