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Phosphoribosylpyrophosphate synthetase superactivity
Phosphoribosylpyrophosphate synthetase superactivity
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Show by gene
(one row per gene, with all of its disease terms together)
Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Mild phosphoribosylpyrophosphate synthetase superactivity
411536
MONDO:0018463
PRPS1
Unknown
20301734PMID]
GWAS catalog
,
Orphanet
Pentose phosphate pathway
Purine metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
5-Phosphoribose 1-diphosphate biosynthesis
+3 more
Mild prpp synthetase superactivity
C5680016
PRPS1
Unknown
—
Disgenet
Pentose phosphate pathway
Purine metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
5-Phosphoribose 1-diphosphate biosynthesis
+3 more
All
1
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
1
Disgenet
1
CTD
0
HPO
0
GWAS catalog
1
GenCC
0
ClinGen
0
Open Targets
0
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Arts syndrome
1 shared gene
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Related via 1 shared gene including PRPS1.
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
1 shared gene
PRPS1
Related via 1 shared gene including PRPS1.
PRPS1 deficiency disorder
1 shared gene
PRPS1
Related via 1 shared gene including PRPS1.
Ataxia with deafness and vision loss
1 shared gene
PRPS1
Related via 1 shared gene including PRPS1.
X-linked nonsyndromic hearing loss
1 shared gene
PRPS1
Related via 1 shared gene including PRPS1.
1
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