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. Author manuscript; available in PMC: 2024 Nov 1.
Published in final edited form as: Genet Med. 2023 Jul 5;25(11):100925. doi: 10.1016/j.gim.2023.100925

Figure 2. Quantitative contributions of genetic and experimental evidence to the clinical validity classifications of genes curated for PAH.

Figure 2.

The sums of genetic (blue) and experimental (orange) evidence scores are shown for genes classified as having definitive, moderate, or limited evidence of a monogenic relationship, no relationship (NR) or disputed relationship for H/IPAH, PVOD/PCH (EIF2AK4), or syndromic PAH (ACVRL1, ENG, TBX4). Dates above the bars indicate date of first report of a gene variant identified in a PAH case.