| action_type |
inhibitor, activator, binder, antagonist, agonist, modulator, ASO_knockdown, ... |
| adjusted_p_value |
Multiple-testing-adjusted p-value when available |
| aggregation_prone |
Known to form aggregates (TDP-43, SOD1, FUS) |
| als_approved |
FDA approval status for ALS treatment |
| als_class |
ALS-specific classification (causal, risk, modifier, protective) |
| als_relevance |
Flagged as ALS-relevant in literature |
| als_risk_tier |
Evidence tier for ALS association (ALSoD classification) - definitive, strong... |
| anatomical_system |
Anatomical system classification |
| approval_status |
approved, investigational, withdrawn, off_label, failed_trial, or unknown |
| assay |
Functional assay or computational method supporting the effect |
| association_id |
Stable identifier for the association record |
| association_label |
Human-readable summary of the association |
| association_score |
Source-specific gene-disease association score |
| association_type |
causal, risk_factor, protective, modifier, biomarker, or correlative |
| binding_affinity_nm |
Binding affinity in nanomolar when available |
| bto_id |
Brenda Tissue Ontology ID |
| cas_number |
CAS Registry number |
| chembl_id |
ChEMBL compound ID |
| chromosome |
Cytogenetic location (e |
| clinical_correlate |
Associated clinical feature or phenotype |
| clinical_phase |
Highest clinical development phase for ALS or ALS subtype |
| clinical_significance |
ClinVar clinical interpretation |
| clinvar_id |
|
| cluster_id |
Cluster number from analysis |
| cluster_method |
Clustering approach (NMF, WGCNA, scRNA-seq, consensus) |
| cohort |
Source patient cohort (AnswerALS, NYGC, PRO-ACT) |
| comment |
Informal comment or note on entity |
| component_name |
Cellular component name from GO |
| confidence |
Confidence or quality score (0 |
| confidence_level |
Source-specific confidence level such as DoRothEA A-D |
| ctd_id |
|
| definition |
Textual definition following OBO definition format |
| disease_1 |
|
| disease_2 |
|
| disease_affects_anatomy |
Disease affects, involves, or primarily manifests in an anatomical structure |
| disease_manifests_as_phenotype |
Disease has or presents with a phenotype or clinical feature |
| disease_related_to_disease |
Disease is related to another disease by comorbidity, shared etiology, simila... |
| disease_stage |
Disease stage or clinical context |
| disease_type |
|
| dorothea_confidence |
DoRothEA confidence level (A=high, D=low) |
| drug_name |
Preferred drug name |
| drug_targets_molecular_entity |
Drug, biologic, ASO, or other therapeutic agent targets a gene or protein |
| drug_treats_or_modulates_disease |
Drug treats, modifies, palliates, or is being investigated for a disease |
| drug_type |
Categorization (small molecule, biologic, ASO, cell therapy, gene therapy) |
| drugbank_id |
|
| effect_direction |
increased_risk, decreased_risk, protective, upregulated, downregulated, or un... |
| ensembl_id |
Ensembl gene identifier |
| epidemiological_support |
|
| evidence_count |
Number of supporting studies or records |
| evidence_source |
Specific study/publication supporting the statement |
| evidence_type |
Type of supporting evidence |
| exposure |
|
| exposure_associated_with_disease |
Environmental exposure or stressor is associated with disease risk or progres... |
| exposure_name |
Standard name of exposure/stressor |
| exposure_type |
Category (chemical, metal, pesticide, radiation, biological, other) |
| expression_level |
high, medium, low, absent, upregulated, downregulated, or not_detected |
| frequency |
Frequency of phenotype in affected individuals (e |
| function_name |
Molecular function name from GO |
| functional_consequence |
missense, frameshift, nonsense, splice_site, synonymous, repeat_expansion, or... |
| gene_associated_with_disease |
Gene has causal, risk, modifier, protective, or correlative association with ... |
| gene_encodes_protein |
Gene encodes a protein product |
| gene_expressed_in_anatomy |
Gene is expressed in an anatomical structure, tissue, or cell-type context |
| gene_has_molecular_function |
Gene or gene product has a molecular activity or function |
| gene_participates_in_process |
Gene or gene product participates in a biological process |
| genomic_pos_end |
GRCh38 end coordinate |
| genomic_pos_start |
GRCh38 start coordinate (1-based) |
| go_definition |
GO textual definition |
| go_id |
|
| has_anatomy |
Referenced anatomy entity in an association record |
| has_disease |
Referenced disease entity in an association record |
| has_drug |
Referenced drug entity in an association record |
| has_gene |
Referenced gene entity in an association record |
| has_pathway |
Referenced Reactome pathway entity in an association record |
| has_phenotype |
Referenced phenotype entity in an association record |
| has_prion_like_domain |
Contains intrinsically disordered prion-like region |
| has_protein |
Referenced protein entity in an association record |
| has_variant |
Referenced variant entity in an association record |
| hgnc_symbol |
Official HGNC gene symbol |
| hgvs_c |
HGVS coding sequence notation (e |
| hgvs_p |
HGVS protein notation (e |
| hpo_id |
HPO cross-reference |
| icd10_code |
ICD-10-CM code for billing/clinical use |
| id |
Unique identifier (IRI or URI) |
| inchi_key |
Standard InChIKey hash |
| indication |
Clinical indication |
| ingest_date |
Date of ETL ingest |
| inheritance_mode |
autosomal_dominant, autosomal_recessive, X_linked, mitochondrial, complex, or... |
| interaction_score |
Source-specific confidence score such as STRING combined score |
| interaction_type |
direct, indirect, physical, genetic, colocalization, pathway, or predicted |
| is_obsolete |
Whether this entity is deprecated/obsolete |
| label |
Human-readable label for the entity |
| last_updated |
Last modification date |
| log2_fold_change |
Differential expression log2 fold change when available |
| maf |
Minor allele frequency in gnomAD non-neuro cohort |
| mechanism |
Known mechanism of action |
| median_survival_months |
Median survival from symptom onset |
| mesh_id |
MeSH cross-reference |
| molecular_weight_kda |
Molecular weight in kDa |
| mondo_id |
MONDO cross-reference |
| n_patients |
Number of patients in subtype |
| name |
Disease name (preferred from MONDO) |
| ncbi_gene_id |
|
| object |
Object of the relationship (resource IRI) |
| odds_ratio |
Genetic association odds ratio when available |
| omim_id |
OMIM (Online Mendelian Inheritance in Man) ID |
| onset_type |
|
| orphanet_id |
Orphanet rare disease identifier |
| outcome_measure |
ALSFRS-R, survival, respiratory function, biomarker, or other endpoint |
| p_value |
Statistical significance when available |
| parent_pathway |
Parent Reactome pathway CURIE when available |
| pathway_definition |
Reactome pathway description or summary when available |
| pathway_name |
Standard Reactome pathway name |
| pathway_role |
participant, catalyst, regulator, input, output, or member, when this detail ... |
| penetrance |
Complete, reduced, age-dependent, or unknown penetrance |
| population |
Population, geography, occupation, or cohort context |
| predicate |
Predicate / property type IRI |
| predicted_effect |
loss_of_function, gain_of_function, dominant_negative, aggregation_prone, no_... |
| process_name |
Standard process name from GO |
| protein_1 |
|
| protein_2 |
|
| protein_family |
Protein family classification (Pfam) |
| protein_interacts_with_protein |
Protein physically or functionally interacts with another protein |
| protein_localized_to_cellular_component |
Protein localizes to or is active in a cellular component |
| protein_name |
Protein name (UniProt recommended name) |
| protein_participates_in_pathway |
Protein participates in or is annotated to a Reactome pathway |
| reactome_evidence_code |
Reactome evidence code or inferred/electronic/manual annotation category when... |
| reactome_id |
|
| regulation_type |
activation, repression, bidirectional, context_dependent, or unknown |
| relation_type |
treats, disease_modifying, symptomatic, palliative, contraindicated, off_labe... |
| rsid |
dbSNP reference SNP ID |
| severity |
Severity scale |
| shared_mechanism |
Shared biological mechanism, pathway, or clinical rationale |
| signature_genes |
Top discriminative genes for subtype |
| similarity_score |
Semantic similarity or clinical overlap score from 0 to 1 |
| smiles |
Canonical SMILES string |
| source |
Data source name |
| source_publication |
DOI or PMID reference |
| source_url |
URL to source resource |
| source_version |
Source version or release date |
| species |
Species for the Reactome pathway; expected to be Homo sapiens for human ALS K... |
| specificity_index |
Tissue-specificity score from 0 to 1 |
| subcellular_location |
Cellular compartment(s) where protein is localized (e |
| subject |
Subject of the relationship (resource IRI) |
| subtype_id |
Custom subtype identifier |
| synonym |
Alternative names or labels |
| target |
Gene or protein target |
| target_gene |
|
| tf_family |
Structural family (C2H2-ZF, bHLH, Homeodomain, etc |
| tissue_or_cell_type |
Tissue or cell type context for the regulatory relationship |
| transcription_factor |
|
| transcription_factor_regulates_gene |
Transcription factor regulates the expression of a target gene |
| trial_status |
Highest clinical trial phase reached |
| uberon_id |
|
| umls_cui |
UMLS Concept Unique Identifier |
| uniprot_id |
|
| variant_affects_protein |
Sequence variant changes or is predicted to affect a protein product |
| variant_associated_with_disease |
Sequence variant has causal, risk, modifier, protective, or correlative assoc... |
| variant_type |
|
| xref |
Cross-reference to equivalent entity in another ontology |