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DPH1 - diphthamide biosynthesis 1
- Synonym(s) : ovarian tumor suppressor candidate 1, OVCA1
- Previous symbols and names : DPH-like 1 (S. cerevisiae), DPH1 homolog (S. cerevisiae), DPH2L, DPH2L1, diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)
- Type : gene with protein product
- Chromosomal location : 17p13.3
- OMIM: 603527
- HGNC: 3003
- UniProtKB: Q9BZG8
- Genatlas: DPH1
- GenCC: DPH1
- Ensembl: ENSG00000108963
- IUPHAR-DB: -
- Reactome: Q9BZG8
- LOVD: DPH1
Diseases list
- Disease-causing germline mutation(s) in Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
ORPHA:459061 
: AssessedAdditional information
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