const BIGQUERY_COLUMN_DESCRIPTIONS = {"CLINGEN_classification": "ClinGen gene-disease validity classification (Definitive, Strong, Moderate, or Limited).", "CLINGEN_disease_label": "Disease name(s) from ClinGen gene-disease validity curation (semicolon-separated if multiple).", "CLINGEN_disease_mondo_id": "MONDO disease ID(s) from ClinGen (semicolon-separated if multiple).", "CLINGEN_haploinsufficient": "ClinGen haploinsufficiency classification for this gene.", "CLINGEN_inheritance": "Mode of inheritance from ClinGen (semicolon-separated if multiple).", "CLINVAR_clinical_significance": "Clinical significance categories from ClinVar for variants in this gene.", "CLINVAR_phenotypes": "Phenotype(s) from ClinVar for pathogenic/likely pathogenic variants in this gene.", "CLINVAR_stars": "ClinVar review status gold stars for variants in this gene.", "CLINVAR_variant_consequences": "Major variant consequence types from ClinVar for pathogenic/likely pathogenic variants in this gene.", "DBNSFP_disease_description": "Disease description from dbNSFP/UniProt.", "DBNSFP_essential_gene": "Essential gene annotation from dbNSFP (E=essential, N=non-essential).", "DBNSFP_function_description": "Gene function description from dbNSFP/UniProt.", "DBNSFP_hpo_id": "Human Phenotype Ontology (HPO) ID(s) from dbNSFP (semicolon-separated if multiple).", "DBNSFP_hpo_name": "Human Phenotype Ontology (HPO) term name(s) from dbNSFP (semicolon-separated if multiple).", "DBNSFP_known_rec_info": "Known recessive disease gene information from dbNSFP.", "DBNSFP_mgi_mouse_phenotype": "Mouse phenotype(s) from MGI via dbNSFP (semicolon-separated if multiple).", "DBNSFP_orphanet_association_type": "Orphanet gene-disease association type(s) from dbNSFP (semicolon-separated if multiple).", "DBNSFP_orphanet_disorder": "Orphanet disorder name(s) from dbNSFP (semicolon-separated if multiple).", "DBNSFP_orphanet_disorder_id": "Orphanet disorder ID(s) from dbNSFP (semicolon-separated if multiple).", "DBNSFP_p_rec": "Probability of being a recessive disease gene from dbNSFP.", "DBNSFP_pathway_kegg": "KEGG pathway(s) from dbNSFP (semicolon-separated if multiple).", "DBNSFP_pathway_uniprot": "UniProt pathway(s) from dbNSFP (semicolon-separated if multiple).", "DBNSFP_zfin_zebrafish_phenotype": "Zebrafish phenotype tag(s) from ZFIN via dbNSFP (semicolon-separated if multiple).", "DECIPHER_disease_names": "Disease name(s) from DECIPHER (semicolon-separated if multiple).", "DECIPHER_inheritance": "Mode of inheritance from DECIPHER (semicolon-separated if multiple).", "FRIDMAN_inheritance": "Inheritance mode from Fridman et al. 2025 (AR or AR-AD).", "FRIDMAN_omim_phenotype_id": "OMIM phenotype ID(s) from Fridman et al. 2025 list of recessive disease genes.", "FRIDMAN_phenotype_category": "Disorder group from Fridman et al. 2025 (semicolon-separated if multiple).", "GENCC_classification": "Gene-disease classification(s) from GenCC (semicolon-separated if multiple).", "GENCC_disease_name": "Disease name(s) from GenCC (semicolon-separated if multiple).", "GENCC_inheritance": "Mode of inheritance from GenCC (semicolon-separated if multiple).", "LLM_phenotype_summary": "LLM-generated concise summary of phenotypes from all sources.", "OMIM_inheritance": "Inheritance mode(s) from OMIM (semicolon-separated if multiple).", "OMIM_mim_number": "OMIM gene MIM number(s) (semicolon-separated if multiple).", "OMIM_phenotype_description": "Phenotype description(s) from OMIM (semicolon-separated if multiple).", "OMIM_phenotype_mim_number": "OMIM phenotype MIM number(s) (semicolon-separated if multiple).", "PANEL_APP_AU_confidence": "PanelApp Australia confidence level(s) for this gene (semicolon-separated if multiple panels).", "PANEL_APP_AU_evidence": "Evidence level from PanelApp Australia (semicolon-separated if multiple panels).", "PANEL_APP_AU_inheritance": "Mode of inheritance from PanelApp Australia (semicolon-separated if multiple panels).", "PANEL_APP_AU_mode_of_pathogenicity": "Mode of pathogenicity from PanelApp Australia (semicolon-separated if multiple panels).", "PANEL_APP_AU_panel_name": "Panel name(s) from PanelApp Australia (semicolon-separated if multiple panels).", "PANEL_APP_AU_penetrance": "Penetrance from PanelApp Australia (semicolon-separated if multiple panels).", "PANEL_APP_AU_phenotypes": "Phenotype(s) from PanelApp Australia (semicolon-separated if multiple panels).", "PANEL_APP_UK_confidence": "PanelApp UK confidence level(s) for this gene (semicolon-separated if multiple panels).", "PANEL_APP_UK_evidence": "Evidence level from PanelApp UK (semicolon-separated if multiple panels).", "PANEL_APP_UK_inheritance": "Mode of inheritance from PanelApp UK (semicolon-separated if multiple panels).", "PANEL_APP_UK_mode_of_pathogenicity": "Mode of pathogenicity from PanelApp UK (semicolon-separated if multiple panels).", "PANEL_APP_UK_panel_name": "Panel name(s) from PanelApp UK (semicolon-separated if multiple panels).", "PANEL_APP_UK_penetrance": "Penetrance from PanelApp UK (semicolon-separated if multiple panels).", "PANEL_APP_UK_phenotypes": "Phenotype(s) from PanelApp UK (semicolon-separated if multiple panels).", "ensembl_gene_id": "Ensembl gene ID (ENSG).", "gene_aliases": "Alternative gene symbols from HGNC (uppercase, comma-separated).", "gene_chrom": "Chromosome name.", "gene_end": "Gene end coordinate (GRCh38).", "gene_start": "Gene start coordinate (GRCh38).", "gene_symbol": "HGNC-approved gene symbol (uppercase).", "hgnc_gene_id": "HGNC gene ID (e.g., HGNC:1234).", "inheritance": "Summarized inheritance modes across all sources (semicolon-separated).", "lof_oe_ci_upper_v4": "Upper bound of the 90% confidence interval for the loss-of-function observed/expected ratio from gnomAD v4 (LOEUF).", "mis_oe_ci_upper_v4": "Upper bound of the 90% confidence interval for the missense observed/expected ratio from gnomAD v4 (MOEUF).", "pLI_v2": "Probability of loss-of-function intolerance from gnomAD v2.", "pLI_v4": "Probability of loss-of-function intolerance from gnomAD v4.", "s_het": "Gene constraint score from GeneBayes (Zeng et al. 2024). Scores \u003e0.1 indicate high likelihood of extreme selection.", "sources": "Number and list of sources that include this gene (e.g., \u00273: OMIM, ClinGen, GenCC\u0027)."}
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