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. 2024 Oct 10;6(1):100371. doi: 10.1016/j.xhgg.2024.100371

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