| spoke-okn ↔ nde | DOID | 20 | Infectious/immune-mediated disease datasets (NDE) for a disease, with that disease's spoke-okn associations, joined on DOID.
For an NDE infectious-disease dataset (DOID), what candidate compounds does spoke-okn associate with that disease, surfacing repurposing leads? |
| gene-expression-atlas-okn → ubergraph → spoke-okn | DOID↔MONDO | 54 | spoke-okn gene/compound/prevalence associations for diseases GXA profiles by differential expression, bridged EFO->MONDO->DOID.
Do the genes spoke-okn associates with a disease (DOID) overlap GXA's differentially-expressed genes for the same disease, bridged EFO->MONDO->DOID? |
| spoke-okn → ubergraph → oard-kg | DOID↔MONDO | 40 | EHR-derived disease-phenotype associations (OARD, MONDO) for a spoke-okn disease (DOID), bridged through ubergraph.
For an OARD-profiled disease (MONDO), pull spoke-okn's gene and compound associations by bridging MONDO->DOID through ubergraph. |
| spoke-okn → ubergraph → prokn | DOID↔MONDO | 115 | spoke-okn disease associations (genes/compounds/prevalence/mortality) for diseases ProKN also describes, joined on DOID.
For a ProKN disease with marker-gene proteins, does spoke-okn associate the same genes with the matching DOID disease, bridged MONDO->DOID? |
| spoke-okn → ubergraph → rdkg | DOID↔MONDO | 149 | Rare-disease gene/drug associations (rdkg, MONDO) for a spoke-okn disease (DOID), bridged through ubergraph DOID->MONDO.
Do spoke-okn's associated compounds for a disease (DOID) match RDKG's DrugBank treating/contraindicated drugs for the same MONDO disease? |
| spoke-okn → ubergraph → digcfdekg | DOID↔MONDO (+ EFO/Orphanet→MONDO) | 50 | spoke-okn disease associations (genes/compounds/prevalence) for diseases CFDE REVEAL has factor inferences on, bridged DOID->MONDO through ubergraph.
For a CFDE REVEAL disease trait (MONDO), which spoke-okn genes for the matching DOID disease overlap the inferred gene-trait factors, bridged MONDO->DOID? |
| digcfdekg ↔ gene-expression-atlas-okn | EFO / Orphanet / MONDO (direct, multi-vocabulary) | 33 | Differential-expression studies (GXA) for diseases CFDE REVEAL has gene-trait factor inferences on, matched on EFO/Orphanet/MONDO.
Do the genes GXA finds differentially expressed for a disease overlap the genes CFDE REVEAL ties to the same trait (EFO/Orphanet/MONDO), corroborating inferred factors with expression evidence? |
| gene-expression-atlas-okn → ubergraph → nde | EFO↔MONDO | 325 | NIAID infectious/immune-disease datasets (nde) for diseases GXA profiles by differential expression, via the EFO->MONDO bridge.
How many of NDE's NIAID disease datasets (MONDO) have a corresponding GXA differential-expression study, bridged EFO->MONDO? |
| gene-expression-atlas-okn → ubergraph → oard-kg | EFO↔MONDO | 159 | EHR-derived disease-phenotype associations (OARD) for diseases GXA profiles by differential expression, via the EFO->MONDO bridge.
Which OARD diseases with the strongest EHR phenotype signals (MONDO) also have GXA transcriptomic data, via the EFO->MONDO bridge? |
| gene-expression-atlas-okn → ubergraph → rdkg | EFO↔MONDO | 414 | Rare-disease gene/drug associations (rdkg) for diseases GXA has differential-expression studies on, via the EFO->MONDO bridge.
Which RDKG rare diseases with known drug treatments (MONDO) also have a GXA differential-expression study, via the EFO->MONDO bridge? |
| gene-expression-atlas-okn ↔ oard-kg | HP | 13 | EHR-derived phenotype co-occurrences (OARD) for the phenotypes GXA studies, joined on HP.
For a phenotype GXA profiles by expression (HP), which diseases does OARD show it co-occurring with in EHR data? |
| gene-expression-atlas-okn ↔ prokn | HP | 12 | ProKN protein/marker-gene evidence for the phenotypes GXA studies, joined on HP.
Do ProKN's marker genes for a phenotype (HP) coincide with the genes GXA finds differentially expressed for the same phenotype? |
| oard-kg ↔ prokn | HP | 4,941 | Phenotypes clinically associated with rare diseases (OARD) that also have protein/marker-gene evidence (ProKN).
For hepatomegaly (HP), list the marker-gene proteins ProKN attaches alongside the diseases OARD shows it co-occurring with in EHR data. |
| medical-device-kg → ubergraph → oard-kg | HP (MAUDE patient-problem label) | 314 | For the most-reported MAUDE patient problems that are HP phenotypes, how many device reports carry each, and how many OARD disease-to-phenotype associations involve that phenotype?
How many MAUDE patient-problem terms map to an HP class by name, how many reach OARD, and which mapped terms does OARD lack? |
| medical-device-kg → ubergraph → rdkg | HP (MAUDE patient-problem label) | 315 | For insulin-delivery devices (MAUDE product codes OZP, OZO, QFG, OYC, LZG), which patient problems that are HP phenotypes are reported most, how many RDKG rare diseases present each, and which rare diseases present both of the top two?
How many HP-mapped MAUDE patient-problem terms reach an RDKG rare disease, how many rare diseases does the bridge touch, and which phenotypes connect to the most? |
| bio101 → ubergraph → oard-kg | HP (bio101 label) | 33 | Which concepts KB Bio 101 teaches match an HP phenotype term, and how many OARD co-occurrence associations involve each — in which role, how many with a disease, and with how many distinct partner concepts? Rank them, and say which concepts also reach OARD as a MONDO disease through the sibling bridge KB15.
KB Bio 101 teaches Fever as a concept and teaches many infectious and genetic diseases. Which of the textbook's own diseases are associated with fever in OARD's EHR data, with what log-odds ratio and 95% lower bound, in which dataset — and do the textbook's infectious diseases stand out? |
| bio101 → ubergraph → prokn | HP (bio101 label) | 9 | Which concepts KB Bio 101 teaches match an HP phenotype that ProKN links to genes, and how many genes each? Rank them.
KB Bio 101 teaches polydactyly as a classic inherited trait. Which genes does ProKN associate with the matching HP phenotype, and how many of them belong to MSigDB gene sets for Hedgehog signalling or for cilia — the pathway and organelle developmental biology ties to digit number? |
| bio101 → ubergraph → rdkg | HP (bio101 label) | 33 | Which concepts KB Bio 101 teaches match an HP phenotype that RDKG uses, and how many rare diseases present each? Rank them.
When RDKG says a disease KB Bio 101 teaches has a phenotype KB Bio 101 also teaches, which textbook disease → textbook phenotype pairs occur? Do they read like textbook facts? |
| biomarkerkg ↔ nde | MONDO | 601 | Infectious/immune-mediated disease datasets (NDE) for a disease biomarkerkg also tracks, joined directly on MONDO.
Which of the 601 shared MONDO diseases have both an NIAID dataset in NDE and multiple curated biomarkers in BiomarkerKG, prioritizing data-rich infectious diseases? |
| biomarkerkg ↔ oard-kg | MONDO | 290 | EHR-derived disease-phenotype associations (OARD) for a biomarkerkg disease, joined directly on MONDO.
How many of BiomarkerKG's MONDO diseases also carry OARD EHR phenotype associations, and which biomarkers map to the most clinically-documented diseases? |
| biomarkerkg ↔ prokn | MONDO | 263 | Literature biomarkers for a disease (BiomarkerKG) cross-referenced to protein/marker-gene evidence (ProKN).
For colorectal cancer (MONDO), do BiomarkerKG's literature biomarker proteins coincide with ProKN's marker genes for the same MONDO disease, flagging markers that lack molecular evidence? |
| biomarkerkg ↔ rdkg | MONDO | 754 | Rare-disease gene/drug associations (rdkg) for a biomarkerkg disease, joined directly on MONDO.
Do BiomarkerKG's biomarker genes for a disease (MONDO) match the disease genes RDKG records for the same MONDO disease, cross-validating markers against rare-disease gene panels? |
| digcfdekg ↔ nde | MONDO | 158 | Which CFDE REVEAL (digcfdekg) disease traits have the most NIAID Data Ecosystem datasets, joined on the MONDO id, and how many genes does digcfdekg associate with each?
Same crosswalk, coverage angle: how many digcfdekg traits are NDE health conditions, by ontology, and how many datasets do they tag? |
| nde ↔ oard-kg | MONDO | 889 | NIAID datasets for a disease (NDE) plus its EHR phenotype signature (OARD).
Which MONDO diseases with an NIAID dataset in NDE carry the richest OARD EHR phenotype profiles, ranked by number of associated phenotypes? |
| nde ↔ prokn | MONDO | 756 | For diseases that ProKN associates with genes, how many NIAID Data Ecosystem datasets study each, joined on the MONDO id?
Same crosswalk, coverage angle: how many diseases do ProKN and NDE share on MONDO, and how many NDE datasets do they tag? |
| nde ↔ rdkg | MONDO | 2,907 | Which RDKG diseases have the most datasets in the NIAID Data Ecosystem (NDE), joined on the MONDO id, and which data catalogs hold them?
Same crosswalk, coverage angle: how many of NDE's MONDO health conditions are RDKG diseases, and how many datasets do they tag? |
| nestkg ↔ biomarkerkg | MONDO | 13 | For a cancer type whose mutational signal NeST attributes to specific protein systems, which biomarkers does BiomarkerKG list as diagnostic, prognostic or risk markers of that same cancer — and do those biomarkers fall inside the implicated systems?
How many of the 14 NeST cancer types have at least one biomarker in BiomarkerKG? |
| oard-kg ↔ prokn | MONDO | 470 | Diseases with both EHR phenotype associations (OARD) and marker-gene/protein evidence (ProKN).
How many of OARD's MONDO diseases carry ProKN protein evidence, and which of them accumulate the most marker genes? |
| prokn ↔ rdkg | MONDO | 2,901 | Which diseases that RDKG ties to a gene does ProKN record the most indicated compounds for, joined on the MONDO id, and how do RDKG's own gene and treating-drug counts compare?
Same crosswalk, coverage angle: how many diseases do ProKN and RDKG share on the MONDO id, and what does each graph attach to the shared diseases? |
| rdkg ↔ oard-kg | MONDO | 2,014 | Rare-disease EHR phenotype profile (OARD) combined with contraindicated/treating drugs (RDKG, DrugBank).
For a DrugBank drug in RDKG, which of the rare diseases it treats also present an EHR phenotype signature in OARD (MONDO)? |
| biomarkerkg → ubergraph → digcfdekg | MONDO (+ EFO/Orphanet→MONDO bridged) | 193 | Biomarker-disease associations (biomarkerkg, MONDO) for diseases CFDE REVEAL has gene-trait factor inferences on, joined on MONDO (CFDE's EFO/Orphanet traits bridged to MONDO through ubergraph).
Do BiomarkerKG's biomarker genes for a disease (MONDO) appear among the genes CFDE REVEAL ties to the same trait, cross-checking markers against inferred factors? |
| digcfdekg → ubergraph → oard-kg | MONDO (+ EFO/Orphanet→MONDO bridged) | 402 | Rare-disease EHR phenotype profile (OARD) combined with the gene-trait factor inferences CFDE REVEAL records for the same disease.
How many CFDE REVEAL disease traits (MONDO) have a matching OARD EHR phenotype profile that could support their inferred gene-trait factors? |
| digcfdekg → ubergraph → rdkg | MONDO (+ EFO/Orphanet→MONDO bridged) | 1,045 | For a rare disease (rdkg, MONDO) with its gene/drug associations, what disease-mechanism factors and gene-trait probabilities does CFDE REVEAL infer?
Do the genes CFDE REVEAL links to a disease trait (MONDO) match RDKG's curated disease genes, validating inferred gene-trait factors against known rare-disease genes? |
| bio101 → ubergraph → biomarkerkg | MONDO (bio101 label) | 40 | For the diseases KB Bio 101 teaches, how many BiomarkerKB biomarker assessments name the matching MONDO condition, and of which kind (diagnostic, susceptibility/risk, prognostic, monitoring, predictive)? Rank the bridged diseases, and say where the volume comes from.
For the disorders KB Bio 101 itself classifies as genetic disorders (under aura:Genetic-Disorder), which BiomarkerKB biomarkers are recorded — and, leaving aside the GWAS susceptibility variants, what are the diagnostic, prognostic and monitoring biomarkers, and from which specimen are they measured? |
| bio101 → ubergraph → digcfdekg | MONDO (bio101 label) | 20 | Which diseases KB Bio 101 teaches carry PIGEAN gene associations in digcfdekg, how many genes each, how many of them strongly (weight ≥ 5), and under which trait identifier? Rank them.
For the disorders KB Bio 101 itself classifies as genetic disorders (under aura:Genetic-Disorder), which gene does PIGEAN score highest, and how many genes does it score strongly (weight ≥ 5)? For cystic fibrosis, the textbook single-gene example, does CFTR come first? |
| bio101 → ubergraph → gene-expression-atlas-okn | MONDO (bio101 label) | 27 | Which diseases KB Bio 101 teaches are studied in Expression Atlas differential-expression experiments, in how many studies and contrasts, and under which disease identifier (MONDO, EFO or Orphanet)? Rank them.
When an Expression Atlas contrast is annotated with a disease KB Bio 101 teaches and is enriched for a process or structure KB Bio 101 teaches, which textbook disease × textbook process pairs occur in the most contrasts? Do they read like textbook pathophysiology? |
| bio101 → ubergraph → nde | MONDO (bio101 label) | 60 | For the diseases KB Bio 101 teaches, how many NDE datasets carry the matching MONDO health condition, and in how many repositories? Rank the bridged diseases.
For the disorders KB Bio 101 itself classifies as genetic disorders (under aura:Genetic-Disorder), which have NDE datasets, how many, and in which repositories? Which textbook genetic disorders have none, and why? |
| bio101 → ubergraph → oard-kg | MONDO (bio101 label) | 25 | For the diseases KB Bio 101 teaches, how many OARD co-occurrence associations involve the matching MONDO term, in which role, and with how many distinct partner concepts? Rank the bridged diseases, and say which EHR datasets the evidence comes from.
For two genetic disorders every introductory biology course teaches — KB Bio 101's Sickle-Cell-Anemia and Cystic-Fibrosis — which phenotypes are most strongly associated with them in OARD's EHR data, and does the answer depend on which dataset (structured OMOP records or clinical notes) the evidence comes from? Rank by the lower bound of the 95% confidence interval of the log-odds ratio (robust to small counts), keeping pairs seen in at least 20 patients and a lower bound of at least 3. |
| bio101 → ubergraph → prokn | MONDO (bio101 label) | 32 | For the diseases KB Bio 101 teaches, how many compounds does ProKN list as indicated for the matching disease, and how many of them are approved (phase 4)? Rank the bridged diseases.
For the disorders KB Bio 101 itself classifies as genetic disorders (under aura:Genetic-Disorder), which approved (phase 4) drugs does ProKN list as indicated? Do they treat the cause or the symptoms? |
| bio101 → ubergraph → rdkg | MONDO (bio101 label) | 57 | For the genetic disorders KB Bio 101 teaches (cystic fibrosis, sickle-cell anemia, achondroplasia, ...), which genes does RDKG associate with the matching MONDO disease, and does it recover the textbook causal genes (CFTR, HBB, FGFR3)?
Which of KB Bio 101's textbook diseases carry the most RDKG gene and phenotype associations? |
| spoke-okn → ubergraph → biomarkerkg | MONDO↔DOID | 107 | Biomarkers for a disease (BiomarkerKB, MONDO) alongside that disease's spoke-okn gene/compound associations (DOID), bridged DOID<->MONDO through ubergraph.
Do BiomarkerKG's biomarker genes for a disease overlap the genes spoke-okn associates with the same disease, reconciling the two gene sets across the DOID<->MONDO bridge? |
| oard-kg → ubergraph → prokn | MONDO↔OMIM | 11 | Cross-reference OARD drug/outcome disease associations (oard-kg, MONDO) with ProKN's OMIM-annotated disease evidence by bridging MONDO to OMIM through ubergraph's cross-references.
For a Mendelian disease ProKN annotates by OMIM, what EHR drug-outcome associations does OARD record, bridging OMIM->MONDO through ubergraph? |
| oard-kg → ubergraph → prokn | MONDO↔Orphanet | 316 | Cross-reference OARD disease associations (oard-kg, MONDO) with ProKN's Orphanet-annotated rare-disease protein evidence by bridging MONDO to Orphanet through ubergraph.
How many of ProKN's Orphanet-annotated rare diseases with protein evidence also surface in OARD's EHR association data, via the MONDO<->Orphanet bridge? |
| biobricks-mesh → babel → prokn | MeSH (direct + via babel) | 3,186 | Which MeSH disease categories hold the most ProKN disease records, reached directly or through Babel, and how many genes does ProKN associate with them?
Same crosswalk, coverage angle: how many ProKN disease records reach a MeSH record, directly or through Babel? |
| biobricks-mesh ↔ spoke-okn | MeSH_descriptor_id | 165 | Map spoke-okn's social-determinants and disease nodes to MeSH (e.g. Social Vulnerability = MeSH D000091482) to pull MeSH definitions / tree placement from biobricks-mesh, or to connect spoke-okn disease nodes to MeSH-tagged concepts - reaching the SDoH layer that the MONDO route (M1) misses.
Starting from a MeSH tree branch (e.g. the Social Determinants of Health descriptor set), enumerate which spoke-okn SDoH and disease nodes fall under it and count the diseases carrying each descriptor. |
| biobricks-ice ↔ biohealth | UMLS | 46 | For the biological target of an ICE tox assay (biobricks-ice, a UMLS concept), what clinical / SDoH associations does biohealth attach to that same concept?
How many of ICE's mechanistic-target UMLS concepts does biohealth's literature graph also describe, joined on the UMLS CUI? |
| biohealth → ubergraph → gene-expression-atlas-okn | UMLS↔HP | 13 | For a phenotype biohealth tracks (UMLS CUI), is there a GXA differential-expression study on it (HP), bridged through ubergraph UMLS->HP?
Which of GXA's HP-typed differential-expression studies correspond to phenotypes biohealth tracks with SDoH context, via the UMLS->HP bridge? |
| biohealth → ubergraph → oard-kg | UMLS↔HP | 4,549 | For a phenotype biohealth tracks (UMLS CUI), what EHR-derived disease co-occurrences does OARD record (HP), bridged through ubergraph UMLS->HP?
Which HP phenotypes with the most OARD EHR disease co-occurrences also carry biohealth SDoH context, via the UMLS->HP bridge? |
| biohealth → ubergraph → prokn | UMLS↔HP | 4,340 | For a phenotype biohealth tracks (UMLS CUI), what protein / marker-gene evidence does prokn attach (HP), bridged through ubergraph UMLS->HP?
How many of ProKN's HP phenotypes with marker-gene evidence map to a biohealth UMLS concept, and which of those carry SDoH context? |
| biohealth → babel → digcfdekg | UMLS↔MONDO | 208 | Which CFDE gene-trait diseases (digcfdekg, MONDO) are also BioHealthKG concepts (MONDO <-> UMLS via Babel), and what does BioHealthKG add about them?
For a digcfdekg disease trait, which genes does the CFDE KG associate with it and which clinical/social concepts does BioHealthKG link to the same disease? |
| biohealth → babel → nestkg | UMLS↔MONDO | 12 | Which NeST cancer types (MONDO) are BioHealthKG concepts (MONDO <-> UMLS via Babel), and which NeST protein systems are mutated in them?
For a NeST cancer type, what does BioHealthKG record about the disease alongside NeST's mutated protein systems? |
| biohealth → ubergraph → biomarkerkg | UMLS↔MONDO | 835 | For a disease biohealth describes (UMLS CUI), what literature-curated biomarkers does BiomarkerKG record (MONDO), bridged through ubergraph UMLS->MONDO?
Which BiomarkerKG diseases with curated biomarkers (MONDO) also appear in biohealth with SDoH context, bridged MONDO->UMLS? |
| biohealth → ubergraph → nde | UMLS↔MONDO | 2,760 | For a disease biohealth describes (UMLS CUI), what NIAID infectious/immune-disease datasets exist (nde, MONDO), bridged through ubergraph UMLS->MONDO?
For an NIAID dataset disease in NDE (MONDO), what SDoH and clinical associations does biohealth attach, bridged MONDO->UMLS? |
| biohealth → ubergraph → oard-kg | UMLS↔MONDO | 1,796 | For a disease biohealth describes (UMLS CUI, with SDoH + clinical context), what real-world EHR phenotype co-occurrences does OARD record (MONDO), bridged through ubergraph UMLS->MONDO?
For type 2 diabetes present in both graphs, contrast biohealth's SDoH determinants against OARD's EHR-derived phenotype co-occurrences for the same MONDO disease. |
| biohealth → ubergraph → rdkg | UMLS↔MONDO | 9,122 | For a disease biohealth describes (UMLS CUI, with its SDoH and clinical associations), what rare-disease gene/drug associations does rdkg record (MONDO), bridged through ubergraph UMLS->MONDO?
For a rare disease RDKG has drug associations for (MONDO), what SDoH and clinical associations does biohealth attach via its UMLS CUI, bridged MONDO->UMLS? |
| biohealth → ubergraph → spoke-okn | UMLS↔MONDO↔DOID | 173 | For a disease biohealth describes (UMLS CUI), pull its spoke-okn gene / compound / prevalence associations (DOID), bridged through ubergraph UMLS->MONDO->DOID.
For a spoke-okn disease with prevalence/mortality data (DOID), what social-determinant associations does biohealth carry, bridged DOID->MONDO->UMLS? |
| biobricks-mesh → babel → nde | disease id→MeSH | 3,467 | Through Babel, how do the NIAID Data Ecosystem's datasets distribute over MeSH disease categories, by their health-condition terms?
Same crosswalk, coverage angle: how many of NDE's health-condition terms reach a MeSH record through Babel, by the ontology of the NDE term? |
| biobricks-mesh → babel → rdkg | disease id→MeSH | 7,934 | Through Babel, which MeSH disease categories hold the most RDKG diseases?
Same crosswalk, coverage angle: how many RDKG diseases reach a MeSH record through Babel, and is it a main descriptor or a supplementary disease record? |
| biohealth → babel → prokn | disease id→UMLS | 2,958 | Which BioHealth disease concepts reached from ProKN's disease records through Babel have the most 'treats' assertions in BioHealth's literature-derived statements?
Same crosswalk, coverage angle: how many ProKN disease records reach a BioHealth UMLS concept through Babel, and how many BioHealth concepts do they land on? |
Social Determinants & Services
Starting from a condition biohealth links in its literature graph (e.g. obesity), which County Health Rankings SDoH indicators does spoke-okn track geographically for it, reached backward through the UMLS->MeSH wikidata bridge?
Of the 89 SDoH concepts whose SNOMED label matches a biohealth UMLS concept name, how many carry disease associations in biohealth's literature graph, and which behavioural determinant links to the most conditions?
For the 8 PHASES psychosocial constructs that resolve to a biohealth UMLS concept, which single construct (e.g. social isolation) surfaces the largest set of linked conditions and determinants in the literature graph?
Given a condition biohealth documents in its clinical/SDoH graph (e.g. diabetes), which DREAM-KG social services list that condition as an audience category, matched on the concept label?