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Results for "PCDH19": 1 gene, 4 gene sets

Name

PCDH19 Gene

protocadherin 19

The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

pcdh19 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term pcdh19 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

PCDH19 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for PCDH19 from the Pathway Commons Protein-Protein Interactions dataset.

PCDH19-related epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PCDH19-related epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

PCDH19-related epilepsy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PCDH19-related epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.