Genes with an identified clinical association that are up/downregulated in individuals with SNIP1-related disorder.

Tissues expressing each gene, including tissue of highest expression and known clinical associations are detailed. (A) List of 11 genes with an associated clinical phenotype that are upregulated (log fold change (logFC) >1.5) in individuals with SNIP1-related disorder. (B) List of 32 genes with an associated clinical phenotype that are downregulated (log fold change (logFC) SNIP1-related disorder. GU; genitourinary, GTC; generalised tonic clonic seizures, SLE; systemic lupus erythematosus, SBH; subcortical band heterotopia, DSD; disorder of sexual development, CRC; colorectal cancer. (XLSX)