Table 1.
The summary characteristics of 423 cohorts presented in v.0.1.19 of Phenopacket Store
Phenopacket count |
Diseases | Genes | Unique Alleles | Publications | Phenotypic feature count |
||||
---|---|---|---|---|---|---|---|---|---|
Per cohort | Per disease | Present | Excluded | Total | |||||
Mean | 15.8 | 14.0 | 1.1 | 1 | 9.2 | 2.29 | 127.2 | 146.0 | 273.2 |
Median | 4 | 5 | 1 | 1 | 3 | 1 | 37 | 17 | 57 |
Minimum | 1 | 1 | 1 | 1 | 1 | 1 | 2 | 0 | 2 |
Maximum | 463 | 463 | 6 (FBN1) | 1 | 264 | 28 | 4130 | 4844 | 5928 |
Total | 6668 | 475 | 423 | 3834 | 959 | 53,693 | 615,98 | 115,291 |