Table 1. Disease-gene association resources.
| Genotype resource | Access linkage | Counts |
|---|---|---|
| Curated Information—data manually curated by experts or validated by experiments | ||
| Orphanet | http://www.orpha.net/ | 2257 |
| OMIM | http://omim.org/ | 123 |
| (Online Mendelian Inheritance in Man) | ||
| UniProtKB (53) | http://www.uniprot.org/ | 477 |
| (UniProt Knowledgebase) | ||
| ClinVar (54) | https://www.ncbi.nlm.nih.gov/clinvar/ | 938 |
| GHR (55) | https://ghr.nlm.nih.gov/gene/GHR | 4398 |
| (Genetics Home Reference) | ||
| DisGeNET (56) | http://www.disgenet.org/ | 10 255 |
| Text mined information | ||
| DISEASES (57) | http://diseases.jensenlab.org/ | 515 378 |
| Inferred information—predicted by protein interaction and phenotype network | ||
| CIPHER (58) | http://bioinfo.au.tsinghua.edu.cn/jianglab/cipher/ | 25 969 |
| (Correlating protein interaction network and phenotype network to predict disease genes) | ||
| In total—total number of disease-Gene associations | 520 537 | |
Counts stand for the pediatric disease and gene associations extracted from designated resources.