Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | DHDDS | contributors: mct - updated : 28-12-2017 |
HGNC name | dehydrodolichyl diphosphate synthase |
HGNC id | 20603 |
|
ASSOCIATED DISORDERS |
corresponding disease(s) | RPD , CDG1BB |
Susceptibility | to Developmental and epileptic encephalopathy (DEE) |
Variant & Polymorphism other | de novo missense mutation c.632G>A (p.Arg211Gln) associated with DEE |
Candidate gene
Marker
| Therapy target
|
|
|
|
ANIMAL & CELL MODELS |