Current live phenomic knowledge bases and tools
| Type of Resource | Resource Name | URL | Disease Area | Reference |
|---|---|---|---|---|
| Phenotype-genotype database | ClinGen | clinicalgenome.org | GD | 20 |
| ClinVar | ncbi.nlm.nih.gov/clinvar | GD | 19 | |
| Online Mendelian Inheritance In Man | omim.org | GD | 34 | |
| Orphanet Rare Disease Ontology | orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php | RGD | 35 | |
| Niche phenomic knowledge base | Amyotrophic Lateral Sclerosis Online Genetics Database | alsod.iop.kcl.ac.uk | ALS | 36 |
| Fanconi Anemia Mutation Database | www2.rockefeller.edu/fanconi | Fanconi anaemia | 22 | |
| IEMBase | iembase.org | IMDs | 23 | |
| Metagene | metagene.de | IMDs | NA | |
| Face2Gene | face2gene.com | IMDs | 33 | |
| Leigh Map | www.vmh.life/#leighmap | Leigh syndrome | 10 | |
| Osteogenesis Imperfecta Variant Database | oi.gene.le.ac.uk/home.php | Osteogenesis imperfecta | 37 | |
| PhenoDis | mips.helmholtz-muenchen.de/phenodis | Rare cardiac disorders | 21 | |
| Predictive phenotypic tool | Exomizer | sanger.ac.uk/science/tools/exomiser | GD | 38 |
| Find Zebra | findzebra.com | RGD | 29 | |
| FunSimMat | funsimmat.de | GD | 39 | |
| Gene Cards | genecards.org | GD | 40 | |
| GeneIO | bioinformatics.ibioba-mpsp-conicet.gov.ar/GenIO | RGD | 41 | |
| Phen IX | compbio.charite.de/PhenIX | GD | 42 | |
| PhenGen | phen-gen.org | RGD | 25 | |
| Phenolyzer | phenolyzer.wglab.org | GD | 27 | |
| Phenominer | phenominer.mml.cam.ac.uk | GD | 43 | |
| Phenomizer | compbio.charite.de/phenomizer | GD | 44 | |
| Phenotate | phenotate.org | GD | NA | |
| Phenotips | phenotips.org | GD | 45 | |
| PHEVOR | yandell-lab.org/software/phevor.html | GD | 26 |
ALS = amyotrophic lateral sclerosis; GD = genetic disorders; IMDs = inherited metabolic disorders; NA = not available; RGD = rare genetic disorders