Class: Gene-diseaseAssociationLinkedWithGeneticVariation

A gene-disease association in which a sequence variation (a mutation, a SNP) is associated with the disease.

Parents

is_a: Gene-diseaseAssociationLinkedWithGenomicAlterations - a gene-disease association that is linked with some genomic alteration

Gene-diseaseAssociationLinkedWithCausalMutation - A gene-variant disease association in which a mutation in the gene/protein results in the development or maintenance of the disease.
Gene-diseaseAssociationLinkedWithModifyingMutation - A gene-disease association in which a gene mutation is known to modify the clinical presentation of the disease.
Gene-diseaseAssociationLinkedWithSusceptibilityMutation - A gene-disease association in which a germline mutation in the gene predisposes to the development of the disease, and it is necessary but not sufficient for the manifestation of the disease.

hasCreator _0..1
- Description: has creator is a relation between an entity and that which created it.
- Range: Entity
hasAttribute _0..1
- Description: has attribute is a relation that associates a entity with an attribute where an attribute is an intrinsic characteristic such as a quality, capability, disposition, function, or is an externally derived attribute determined from some descriptor (e.g. a quantity, position, label/identifier) either directly or indirectly through generalization of entities of the same type.
- Range: Entity
- satisfies _0..1
- Description: satisfies is a relation between an entity and the specification or objective that it conforms to.
- Range: Description
- isRelatedTo _0..1
- Description: A is related to B iff there is some relation between A and B.
- Range: Entity
- derivesInto _0..1
- Description: a derives to b if and only if a or some part thereof is consumed in the formation of b.
- Range: Object
- hasUnit _0..1
- Description: has unit is a relation between a quantity and the unit it is a multiple of.
- Range: UnitOfMeasurement