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PHGDH Genephosphoglycerate dehydrogenase This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011] |
phgdh Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term phgdh in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
PHGDH Gene SetFrom Pathway Commons Protein-Protein Interactions interacting proteins for PHGDH from the Pathway Commons Protein-Protein Interactions dataset. |
PHGDH Gene SetFrom LINCS L1000 CMAP CRISPR Knockout Consensus Signatures genes differentially expressed following the PHGDH gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. |
PHGDH Gene SetFrom CM4AI KOLF21J CRISPRi Gene Perturbation Atlas genes differentially expressed following the PHGDH gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas. |
phgdh deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease phgdh deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
PHGDH deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease PHGDH deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
PHGDH deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease PHGDH deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
PHGDH deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PHGDH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |