Where are the funding gaps?
Genes with OMIM disease association but no FaceBase experimental data.
These represent known disease genes lacking craniofacial research coverage.
73
critical gaps out of 95 genes
How complete is the data?
Coverage across 16 biomedical databases. Gaps in FaceBase
and ClinVar represent opportunities for experimental and clinical research.
Gene Ontology
95/95 (100%)
OMIM
95/95 (100%)
HPO
81/95 (85%)
UniProt
95/95 (100%)
FaceBase
22/95 (23%)
ClinVar
95/95 (100%)
PubMed
95/95 (100%)
gnomAD
91/95 (95%)
NIH Reporter
95/95 (100%)
GTEx
95/95 (100%)
ClinicalTrials
95/95 (100%)
STRING
95/95 (100%)
Orphanet
80/95 (84%)
Open Targets
91/95 (95%)
AlphaFold/PDB
95/95 (100%)
MGI/ZFIN
95/95 (100%)
Which genes are understudied?
Disease genes ranked by craniofacial publication count (ascending).
Fewer publications = less research attention relative to clinical importance.
Cross-Source Filter
Click a source to cycle: any → required → excluded. Set numeric ranges. Apply to filter the gene table below.
Gene Landscape
Node size = publication count · Color = developmental role · 4 edge types: phenotype, syndrome, pathway, PPI
Border specification
Cardiac NC
Craniofacial
EMT / migration
Enteric NS
Melanocyte
NC specifier
Signaling
Syndrome-Centric View
| Syndrome | Genes | FaceBase % | Avg Pubs | Pathogenic |
|---|
Funding Intelligence
Cross-referencing NIH Reporter grants with publication data to identify funding
misalignments: genes with organic research momentum but no NIH support, and
genes with active grants but declining output.
Unfunded Momentum
High recent publications, zero NIH grants
Funded but Quiet
Active grants but <3 recent publications
Emerging Hotspots
Research surging + disease-relevant + no funding = invest now
Grants vs. Publications
Translational Readiness
Composite score ranking genes by proximity to clinical translation:
pathogenic variants (ClinVar) + clinical trials + genetic constraint (pLI) +
craniofacial expression (GTEx) + disease association (OMIM).
Portfolio Overlay
Paste your funded gene targets to see which critical gaps they cover
and which remain unfunded.
Change History
Cross-Source Anomalies
Per-Gene Coverage (95 genes)
| Gene | Gene Ontology | OMIM | HPO | UniProt | FaceBase | ClinVar | PubMed | gnomAD | NIH Reporter | GTEx | ClinicalTrials | STRING | Orphanet | Open Targets | AlphaFold/PDB | MGI/ZFIN | Src | Pubs | Recent | Pathogenic | Key Syndrome |
|---|