Additional file 2 of Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach

Additional file 2: Table S1. A list of 56 genes and the associated medical conditions recommended by ACMG for return of results. Table S2. The full list of the extracted PheCodes and the corresponding prevalences among the 15,181 individuals analyzed in the study. Table S3. The 37 PheCodes of psychiatric disorders with at least 75 cases selected for burden analysis. Table S4. Pairwise phenotypic correlations between the 37 psychiatric phenotypes. Table S5. Pairwise phenotypic correlations between the 37 psychiatric phenotypes and all 966 phenotypes with at least 75 cases. Table S6. PheWAS results of rare variation and psychiatric disorders: ACMG-56 genes. Table S7. PheWAS results of rare variation and psychiatric disorders: CACNA1C. Table S8. PheWAS results of rare variation and psychiatric disorders: TCF4. Table S9. PheWAS of rare variation and psychiatric disorders: interaction with age. Table S10. PheWAS of rare variation and psychiatric disorders: interaction with sex. Table S11. PheWAS of rare variation and psychiatric disorders: combining variation across 58 genes by functional annotation. Table S12. Gene Ontology analysis of the 58 genes: biological process. Table S13. Gene Ontology analysis of the 58 genes: cellular component. Table S14. Gene Ontology analysis of the 58 genes: molecular function. Table S15. PheWAS of rare variation and psychiatric disorders: 34 genes from the top GO term of biological process. Table S16. PheWAS of rare variation and psychiatric disorders: 16 genes from the top GO term of cellular component. Table S17. PheWAS of rare variation and psychiatric disorders: 25 genes from the top GO term of molecular function. Table S18. Phenotypic comparison between eMERGE and UKB-GeneBass. Table S19. PheWAS results of rare variation and psychiatric disorders in UKB-GeneBass. Table S20. Suggested gene associations in eMERGE (Table 1) vs. in UKB-GeneBass

附加文件2：表S1。美国医学遗传学与基因组学学会（ACMG）推荐的56个基因及其对应的需反馈研究结果的相关病症列表。
表S2。本研究分析的15181名受试者中，提取的全部表型代码（PheCodes）及其对应患病率的完整清单。
表S3。用于负担分析的、至少包含75例病例的37种精神疾病相关表型代码。
表S4。37种精神疾病表型之间的两两表型相关性。
表S5。37种精神疾病表型与全部966种至少包含75例病例的表型之间的两两表型相关性。
表S6。罕见变异与精神疾病的全表型组关联研究（PheWAS）结果：ACMG推荐的56个基因。
表S7。罕见变异与精神疾病的全表型组关联研究（PheWAS）结果：CACNA1C基因。
表S8。罕见变异与精神疾病的全表型组关联研究（PheWAS）结果：TCF4基因。
表S9。罕见变异与精神疾病的全表型组关联研究（PheWAS）：与年龄的交互作用分析。
表S10。罕见变异与精神疾病的全表型组关联研究（PheWAS）：与性别的交互作用分析。
表S11。罕见变异与精神疾病的全表型组关联研究（PheWAS）：基于功能注释整合58个基因的变异信息。
表S12。58个基因的基因本体（GO）分析：生物学过程条目。
表S13。58个基因的基因本体（GO）分析：细胞组分条目。
表S14。58个基因的基因本体（GO）分析：分子功能条目。
表S15。罕见变异与精神疾病的全表型组关联研究（PheWAS）：取自生物学过程顶级GO术语的34个基因。
表S16。罕见变异与精神疾病的全表型组关联研究（PheWAS）：取自细胞组分顶级GO术语的16个基因。
表S17。罕见变异与精神疾病的全表型组关联研究（PheWAS）：取自分子功能顶级GO术语的25个基因。
表S18。eMERGE队列与UKB-GeneBass队列的表型特征比较。
表S19。UKB-GeneBass队列中罕见变异与精神疾病的全表型组关联研究（PheWAS）结果。
表S20。eMERGE队列（表1）与UKB-GeneBass队列中建议的基因关联对比。