Entity Details
Primary name |
PCDH19 |
Entity type |
gene |
Source |
Source Link |
Details
PrimaryID | 57526 |
RefseqGene | NG_021319 |
Symbol | PCDH19 |
Name | protocadherin 19 |
Chromosome | X |
Location | Xq22.1 |
TaxID | 9606 |
Status | live |
SourceGenome | genomic |
SourceOrigin | natural |
CreationDate | 2000-09-18 |
ModificationDate | 2021-06-11 |
Diseases
Show/Hide Table
Disease ID | Source | Name | Description |
300088 | OMIM | Developmental and epileptic encephalopathy 9 (DEE9) | A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
7 interactions