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Expression quantitative trait locus–based SMR analysis integrating GWAS data from 9,394 schizophrenia patients and 12,462 controls with eQTLs from 5,311 subjects implicates ZDHHC5 expression in schizophrenia (p = 7.45×10^-10)(PMID:29024729). This single-study association lacks supporting rare variant findings, segregation data, or family-based evidence. No pathogenic coding variants in ZDHHC5 have been described in schizophrenia cohorts, and no functional or mechanistic studies to date directly link ZDHHC5 perturbation to schizophrenia-relevant phenotypes. Under ClinGen guidelines, the gene–disease association is classified as Limited, indicating insufficient evidence for clinical diagnostic use or targeted therapy decisions.
Gene–Disease AssociationLimitedSingle integrative SMR study; no segregation or rare variant evidence Genetic EvidenceLimitedAssociation based on summary-level expression data; lacks case-level variant data Functional EvidenceLimitedNo experimental studies linking ZDHHC5 function to schizophrenia phenotype |