CURE-ID RASopathies

CURE-ID RASopathies Exports

This directory contains CURE-ID RASopathies export files prepared for ODIN/ODP distribution. The files include the source-style flattened TSV, version metadata, and normalized line-delimited JSON association views.

Source TSV Rows 240

Approved Case Reports 13

Association View Records 225

Source Snapshot

Source: CURE-ID RASopathies case report export.
Export version: 2025-12-17.
Original source filename: cureid_rasopathies_ex_251217.tsv.
Translator export metadata reports source version reports_20260518T211409Z, with version_date and download_date of 2026-05-18.
Translator scope: RASopathies, approved case reports, 13 case reports.

Version metadata is stored in cureid_version.json and rasopathies_translator_version_info.jsonl.

Files

File	Records	Description
`cureid_data.tsv`	240 data rows	Flattened source association table with subject, predicate, object, mapping status, case report identifier, source link, PMID, and outcome text.
`cureid_version.json`	1 object	Compact source version metadata for the TSV export.
`rasopathies_translator_version_info.jsonl`	1 record	Export-level metadata for the normalized association views, including scope, source version, and listed association view IDs.
`rasopathies_condition_has_phenotype.jsonl`	118 records	Aggregated condition-to-phenotype associations.
`rasopathies_drug_applied_to_treat_condition.jsonl`	24 records	Aggregated drug-to-condition treatment associations.
`rasopathies_drug_applied_to_treat_phenotype.jsonl`	44 records	Aggregated drug-to-phenotype treatment associations, including treatment outcomes when available.
`rasopathies_drug_has_adverse_event.jsonl`	8 records	Aggregated drug-to-adverse-event associations, represented with phenotype-shaped target objects.
`rasopathies_gene_associated_with_condition.jsonl`	7 records	Aggregated gene-to-condition diagnostic associations.
`rasopathies_gene_has_sequence_variant.jsonl`	12 records	Aggregated gene-to-sequence-variant associations.
`rasopathies_sequence_variant_genetically_associated_with_condition.jsonl`	12 records	Aggregated sequence-variant-to-condition associations.

TSV Structure

cureid_data.tsv is a flattened association export with these column groups:

Subject fields: subject_label_original, subject_label, subject_type, subject_final_label, subject_final_curie, subject_missing_final
Predicate fields: predicate_raw, biolink_predicate, association_category
Object fields: object_label_original, object_label, object_type, object_final_label, object_final_curie, object_missing_final
Evidence/source fields: report_id, pmid, link, outcome

The TSV contains 240 data rows from 11 distinct report IDs. Subject/object mapping status is captured in the *_missing_final fields: 230 rows have mapped subject and object CURIEs, and 10 rows are missing final subject/object mappings.

Predicate Distribution

Predicate	Rows
`has_phenotype_of` / `biolink:has_phenotype`	140
`applied_to_treat` / `biolink:applied_to_treat`	63
`gene_associated_with_condition` / `biolink:gene_associated_with_condition`	10
`genetically_associated_with` / `biolink:genetically_associated_with`	10
`has_sequence_variant` / `biolink:has_sequence_variant`	10
`has_adverse_events` / `biolink:has_adverse_event`	7

JSONL Association Views

The rasopathies_*.jsonl files are normalized aggregate association views. Each line is one unique association between two normalized entities, not one raw case report row.

Common Record Structure

A source entity object, such as condition, drug, gene, or gene_variant.
predicate, with an internal predicate ID and display label.
A target entity object, such as phenotype, condition, or gene_variant.
patient_count and case_report_count.
evidence, an array of supporting case-level evidence records.

Most entity objects include normalized IDs and labels, for example MONDO disease IDs, HP phenotype IDs, ChEBI drug IDs, or NCBI Gene IDs. Sequence variants use case-report-scoped IDs when no stable external variant identifier is available.

Evidence records preserve case report provenance and source context. Depending on the association type, evidence may include patient demographics, diagnosis methods, drug treatment details, treatment response, adverse event details, source finding text, and CURE-ID case report links.

Association View Summary

Association View	Association Records	Evidence Entries
Condition has phenotype	118	148
Drug applied to treat condition	24	28
Drug applied to treat phenotype	44	48
Drug has adverse event	8	8
Gene associated with condition	7	12
Gene has sequence variant	12	12
Sequence variant genetically associated with condition	12	12

Notes For Consumers

Counts in the JSONL files are aggregate counts for the association record; they may be greater than one when multiple case reports support the same normalized association.
The embedded evidence arrays are the best place to recover report-level provenance and clinical context.
outcomes appears on treatment and adverse-event association views when the source export supplied outcome values.
cureid_data.tsv is useful for auditing the original flattened mappings. The JSONL files are better suited for graph-style consumption.
Drug URLs in JSONL records are CURE-ID API paths when available.

Prepared for ODIN/ODP distribution.