cat-vrs/examples/yaml/adjacencyFusion-ex2.yaml at v1 · ga4gh/cat-vrs · GitHub

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id: civic.fid:62026
type: CategoricalVariant
name: v::NTRK1(hgnc:8031)
description: An optional field to describe this Categorical Variant.
aliases:
  - v::NTRK1
  - NTRK1 fusion
constraints:
  - type: AdjacencyConstraint
    orderKnown: false
    adjoinedElements:
      - type: UnspecifiedElement
      - id: hgnc:8031
        conceptType: Gene
        name: NTRK1
        primaryCoding:
          id: hgnc:8031
          name: NTRK1
          system: https://genenames.org
          code: HGNC:8031
          iris:
            - https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7230
extensions:
  - name: Known Gene Elements
    description: Known gene elements that may satisfy this Categorical Variant. Please specify if this array is exhaustive or non-exhaustive, and if it is subject to change.
    value:
      type: ConceptSet
      membershipOperator: OR
      concepts:
        - id: hgnc:6636
          conceptType: Gene
          name: LMNA
          primaryCoding:
            id: hgnc:6636
            name: LMNA
            system: https://genenames.org
            code: HGNC:6636
            iris:
              - https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636
        - id: hgnc:11758
          conceptType: Gene
          name: TFG
          primaryCoding:
            id: hgnc:11758
            name: TFG
            system: https://genenames.org
            code: HGNC:11758
            iris:
              - https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11758
        - id: hgnc:11998
          conceptType: Gene
          name: TP53
          primaryCoding:
            id: hgnc:11998
            name: TP53
            system: https://genenames.org
            code: HGNC:11998
            iris:
              - https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11998
        - id: hgnc:12012
          conceptType: Gene
          name: TPM3
          primaryCoding:
            id: hgnc:12012
            name: TPM3
            system: https://genenames.org
            code: HGNC:12012
            iris:
              - https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12012
        - id: hgnc:12017
          conceptType: Gene
          name: TPR
          primaryCoding:
            id: hgnc:12017
            name: TPR
            system: https://genenames.org
            code: HGNC:12017
            iris:
              - https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12017