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neurometabolic disorder due to serine deficiency
neurometabolic disorder due to serine deficiency
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
neurometabolic disorder due to serine deficiency
PHGDH
Unknown
—
ClinGen
Glycine, serine and threonine metabolism
Cysteine and methionine metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
Serine biosynthesis
+3 more
PSPH
Unknown
—
ClinGen
Glycine, serine and threonine metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
Serine biosynthesis
+2 more
All
3
Causal
1
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
2
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Phosphoserine phosphatase deficiency
1 shared gene
PSPH
Related via 1 shared gene including PSPH.
Macular telangiectasia
2 shared genes
PHGDH, PSPH
Related via 2 shared genes including PHGDH, PSPH.
Osteomyelitis
1 shared gene
PHGDH
Related via 1 shared gene including PHGDH.
Amino acid metabolism disorder
2 shared genes
PHGDH, PSPH
Related via 2 shared genes including PHGDH, PSPH.
Neuropathy
1 shared gene
PHGDH
Related via 1 shared gene including PHGDH.
1
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