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jsstevenson/moa_featurecontextconstraint_example.json

Last active December 1, 2025 18:49
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moa_featurecontextconstraint_example.json
{
"id": "moa.assertion:74",
"type": "Statement",
"description": "Secondary mutations in BCR-ABL may suggest resistance to imatinib in CML.",
"specifiedBy": {
"id": "moa.method:2021",
"type": "Method",
"name": "MOAlmanac (2021)",
"reportedIn": {
"type": "Document",
"name": "Reardon, B., Moore, N.D., Moore, N.S. et al.",
"title": "Integrating molecular profiles into clinical frameworks through the Molecular Oncology Almanac to prospectively guide precision oncology",
"doi": "10.1038/s43018-021-00243-3",
"pmid": 35121878
}
},
"reportedIn": [
{
"id": "moa.source:46",
"type": "Document",
"extensions": [
{
"name": "source_type",
"value": "Journal"
}
],
"title": "Soverini S, Hochhaus A, Nicolini FE, Gruber F, Lange T, Saglio G, et al. (2011) Bcr-Abl kinase domain mutation analysis in chronic myeloid leukemia patients treated with tyrosine kinase inihibitors: recommendations from an expert panel on behalf of European LeukemiaNet. Blood: blood-2010-2012-326405",
"urls": [
"https://doi.org/10.1182/blood-2010-12-326405"
],
"doi": "10.1182/blood-2010-12-326405",
"pmid": 27760149
}
],
"proposition": {
"type": "VariantTherapeuticResponseProposition",
"subjectVariant": {
"id": "moa.variant:74",
"type": "CategoricalVariant",
"name": "ABL1 Mutation",
"extensions": [
{
"name": "MOA representative coordinate",
"value": {
"chromosome": "9",
"start_position": null,
"end_position": null,
"reference_allele": null,
"alternate_allele": null,
"cdna_change": null,
"protein_change": null,
"exon": null
}
}
],
"constraints": [
{
"type": "FeatureContextConstraint",
"featureContext": {
"id": "moa.normalize.gene.hgnc:76",
"conceptType": "Gene",
"name": "ABL1",
"mappings": [
{
"extensions": [
{
"name": "vicc_normalizer_priority",
"value": true
}
],
"coding": {
"id": "hgnc:76",
"name": "ABL1",
"system": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/",
"code": "HGNC:76"
},
"relation": "exactMatch"
},
{
"extensions": [
{
"name": "vicc_normalizer_priority",
"value": false
}
],
"coding": {
"id": "ncbigene:25",
"system": "https://www.ncbi.nlm.nih.gov/gene/",
"code": "25"
},
"relation": "exactMatch"
}
]
}
}
],
"mappings": [
{
"coding": {
"id": "moa.variant:74",
"system": "https://moalmanac.org",
"code": "74"
},
"relation": "exactMatch"
}
]
},
"geneContextQualifier": {
"id": "moa.normalize.gene.hgnc:76",
"conceptType": "Gene",
"name": "ABL1",
"mappings": [
{
"extensions": [
{
"name": "vicc_normalizer_priority",
"value": true
}
],
"coding": {
"id": "hgnc:76",
"name": "ABL1",
"system": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/",
"code": "HGNC:76"
},
"relation": "exactMatch"
},
{
"extensions": [
{
"name": "vicc_normalizer_priority",
"value": false
}
],
"coding": {
"id": "ncbigene:25",
"system": "https://www.ncbi.nlm.nih.gov/gene/",
"code": "25"
},
"relation": "exactMatch"
}
]
},
"alleleOriginQualifier": {
"name": "somatic"
},
"predicate": "predictsResistanceTo",
"objectTherapeutic": {
"id": "moa.normalize.therapy.rxcui:282388",
"extensions": [
{
"name": "regulatory_approval",
"value": {
"approval_rating": "FDA",
"has_indications": [
{
"id": "hemonc:602",
"conceptType": "Disease",
"name": "Gastrointestinal stromal tumor",
"mappings": [
{
"coding": {
"id": "ncit:C3868",
"system": "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=",
"code": "C3868"
},
"relation": "exactMatch"
}
]
},
{
"id": "hemonc:669",
"conceptType": "Disease",
"name": "Systemic mastocytosis",
"mappings": [
{
"coding": {
"id": "ncit:C9235",
"system": "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=",
"code": "C9235"
},
"relation": "exactMatch"
}
]
},
{
"id": "hemonc:24309",
"conceptType": "Disease",
"name": "Acute lymphoblastic leukemia",
"mappings": [
{
"coding": {
"id": "ncit:C3167",
"system": "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=",
"code": "C3167"
},
"relation": "exactMatch"
}
]
},
{
"id": "hemonc:582",
"conceptType": "Disease",
"name": "Chronic myeloid leukemia",
"mappings": [
{
"coding": {
"id": "ncit:C3174",
"system": "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=",
"code": "C3174"
},
"relation": "exactMatch"
}
]
},
{
"id": "hemonc:667",
"conceptType": "Disease",
"name": "Soft tissue sarcoma",
"mappings": [
{
"coding": {
"id": "ncit:C9306",
"system": "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=",
"code": "C9306"
},
"relation": "exactMatch"
}
]
},
{
"id": "hemonc:33893",
"conceptType": "Disease",
"name": "Chronic myeloid leukemia pediatric"
},
{
"id": "hemonc:616",
"conceptType": "Disease",
"name": "Hypereosinophilic syndrome",
"mappings": [
{
"coding": {
"id": "ncit:C27038",
"system": "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=",
"code": "C27038"
},
"relation": "exactMatch"
}
]
},
{
"id": "hemonc:634",
"conceptType": "Disease",
"name": "Myelodysplastic syndrome",
"mappings": [
{
"coding": {
"id": "ncit:C3247",
"system": "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=",
"code": "C3247"
},
"relation": "exactMatch"
}
]
}
]
}
}
],
"conceptType": "Therapy",
"name": "Imatinib",
"mappings": [
{
"extensions": [
{
"name": "vicc_normalizer_priority",
"value": true
}
],
"coding": {
"id": "rxcui:282388",
"name": "imatinib",
"system": "https://mor.nlm.nih.gov/RxNav/search?searchBy=RXCUI&searchTerm=",
"code": "282388"
},
"relation": "exactMatch"
},
{
"extensions": [
{
"name": "vicc_normalizer_priority",
"value": false
}
],
"coding": {
"id": "ncit:C1687",
"system": "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=",
"code": "C1687"
},
"relation": "exactMatch"
},
{
"extensions": [
{
"name": "vicc_normalizer_priority",
"value": false
}
],
"coding": {
"id": "ncit:C62035",
"system": "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=",
"code": "C62035"
},
"relation": "exactMatch"
}
]
},
"conditionQualifier": {
"id": "moa.normalize.disease.ncit:C3174",
"conceptType": "Disease",
"name": "Chronic Myelogenous Leukemia",
"mappings": [
{
"coding": {
"id": "oncotree:CML",
"name": "Chronic Myelogenous Leukemia",
"system": "https://oncotree.mskcc.org/?version=oncotree_latest_stable&field=CODE&search=",
"code": "CML"
},
"relation": "exactMatch"
},
{
"extensions": [
{
"name": "vicc_normalizer_priority",
"value": true
}
],
"coding": {
"id": "ncit:C3174",
"name": "Chronic Myeloid Leukemia, BCR-ABL1 Positive",
"system": "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=",
"code": "C3174"
},
"relation": "exactMatch"
},
{
"extensions": [
{
"name": "vicc_normalizer_priority",
"value": false
}
],
"coding": {
"id": "DOID:0081088",
"system": "https://disease-ontology.org/?id=",
"code": "DOID:0081088"
},
"relation": "exactMatch"
},
{
"extensions": [
{
"name": "vicc_normalizer_priority",
"value": false
}
],
"coding": {
"id": "MONDO_0011996",
"system": "https://purl.obolibrary.org/obo/",
"code": "MONDO:0011996"
},
"relation": "exactMatch"
},
{
"extensions": [
{
"name": "vicc_normalizer_priority",
"value": false
}
],
"coding": {
"id": "DOID:8552",
"system": "https://disease-ontology.org/?id=",
"code": "DOID:8552"
},
"relation": "exactMatch"
}
]
}
},
"direction": "supports",
"strength": {
"primaryCoding": {
"system": "https://moalmanac.org/about",
"code": "Clinical evidence"
},
"mappings": [
{
"coding": {
"name": "observational study evidence",
"system": "https://go.osu.edu/evidence-codes",
"code": "e000007"
},
"relation": "exactMatch"
}
]
}
}
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