Table 2 Databases usable through PhenoExam and size of each in terms of genes, phenotypes and associations. Numbers reported are final, after preprocessing and unification of gene names across databases
From: PhenoExam: gene set analyses through integration of different phenotype databases
Source | Genes | Phenotypes | Diseases | Assocs | Summary |
|---|---|---|---|---|---|
HGCN | 19,197 | – | – | – | All protein coding genes |
HPO | 19,248 | 7861 | – | 186,290 | Human gene-phenotype associations |
MGD | 17,900 | 10,243 | – | 242,313 | Mouse gene-phenotype associations |
CRISPRBrain | 19,275 | 55 | – | 43,481 | Cell screen gene-phenotype associations |
ClinGen | 19,198 | – | 420 | 19,851 | Human gene-disease associations |
Genomics England | 19,230 | – | 5538 | 24,336 | Human gene-disease associations |
CTD | 19,636 | – | 6843 | 58,660 | Human gene-disease associations |
CGI | 19,198 | – | 177 | 20,361 | Human gene-disease (cancer) associations |
UniProt | 19,204 | – | 3868 | 21,101 | Human gene-disease associations |
Orphanet | 19,262 | – | 3183 | 2228 | Human gene-disease (rare) associations |
PsyGeNET | 19,248 | – | 82 | 20,952 | Human gene-disease associations |
ALL | 20,209 | 18,159 | 9348 | 544,022 | PhenoExam tool |