GeneDiseaseValidityProposition
Warning
This data class is at a draft maturity level and may change significantly in future releases. Maturity levels are described in the GKS Maturity Model.
Computational Definition
A proposition that variants affecting a particular Gene are valid for evaluation as causal for some Condition using appropriate variant classification criteria, given a specific mode of inheritance.
Information Model
Some GeneDiseaseValidityProposition attributes are inherited from Proposition.
Field |
Flags |
Type |
Limits |
Description |
|---|---|---|---|---|
id |
string |
0..1 |
The ‘logical’ identifier of the Entity in the system of record, e.g. a UUID. This ‘id’ is unique within a given system, but may or may not be globally unique outside the system. It is used within a system to reference an object from another. |
|
name |
string |
0..1 |
A primary name for the entity. |
|
description |
string |
0..1 |
A free-text description of the Entity. |
|
aliases |
⋮ | string |
0..m |
Alternative name(s) for the Entity. |
extensions |
⋮ | 0..m |
A list of extensions to the Entity, that allow for capture of information not directly supported by elements defined in the model. |
|
type |
string |
1..1 |
MUST be “GeneDiseaseValidityProposition”. |
|
subjectGene |
1..1 |
The Entity or concept about which the Proposition is made. |
||
predicate |
string |
1..1 |
MUST be “variantsInGeneCausalFor”. |
|
objectCondition |
1..1 |
An Entity or concept that is related to the subject of a Proposition via its predicate. |
||
modeOfInheritanceQualifier |
0..1 |