Slot: gene_disease_validity
Gene-disease validity classifications made by external curation bodies for this gene and this entry's disease. Each records the tier, who assigned it, and the identifier of the assertion. Multivalued because one gene-disease pair can carry several: ClinGen classifies each mode of inheritance separately, an entry's subtypes can be separate ClinGen diseases, and GenCC submitters do not always agree. Leave absent when no external body has classified the pair; that is not the same as NO_KNOWN_DISEASE_RELATIONSHIP.
URI: dismech:slot/gene_disease_validity
Alias: gene_disease_validity
Applicable Classes
| Name |
Description |
Modifies Slot |
| Genetic |
|
no |
Properties
Type and Range
Cardinality and Requirements
| Property |
Value |
| Multivalued |
Yes |
Schema Source
- from schema: https://w3id.org/monarch-initiative/dismech
Mappings
| Mapping Type |
Mapped Value |
| self |
dismech:gene_disease_validity |
| native |
dismech:gene_disease_validity |
LinkML Source
name: gene_disease_validity
description: 'Gene-disease validity classifications made by external curation bodies
for this gene and this entry''s disease. Each records the tier, who assigned it,
and the identifier of the assertion. Multivalued because one gene-disease pair can
carry several: ClinGen classifies each mode of inheritance separately, an entry''s
subtypes can be separate ClinGen diseases, and GenCC submitters do not always agree.
Leave absent when no external body has classified the pair; that is not the same
as NO_KNOWN_DISEASE_RELATIONSHIP.'
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
alias: gene_disease_validity
domain_of:
- Genetic
range: GeneDiseaseValidityAssertion
multivalued: true
inlined: true
inlined_as_list: true