Gene table of DPH1 : diphthamide biosynthesis 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with DPH1OMIM linkNumber of associated genesgenes
616901DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIRClinVar, OMIM link to OMIM 1DPH1

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Annotation of the gene DPH1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Post-translational protein modificationR-HSA-5975924.54
Gamma carboxylation, hypusine formation and arylsulfatase activationR-HSA-1638417.81
Metabolism of proteinsR-HSA-3924993.41
Synthesis of diphthamide-EEF2R-HSA-53584939.98
Associated GO terms for Molecular function
GO termGO IDGO IC
bindingGO:00054880.18
protein bindingGO:00055150.46