Phosphoribosylpyrophosphate synthetase superactivity

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Mild phosphoribosylpyrophosphate synthetase superactivity
411536MONDO:0018463
PRPS1 Unknown
20301734PMID]
GWAS catalog, Orphanet
Mild prpp synthetase superactivity
C5680016
PRPS1 Unknown — Disgenet
phosphoribosylpyrophosphate synthetase superactivity
MONDO_0010395
PRPS1 Causal
10503584 15240907 168665 171280 17701896 17701900 1962753 20021999 20380929 2155397 217337 218284 22246954 2423135 24285972 24896178 2537655 25529582 27604308 4373874 6243137 7593598 8253776 8498830 8968763
ClinGen, Open Targets
All1 Causal1 Unknown1
Related Diseases Diseases that share the most curated genes with Phosphoribosylpyrophosphate synthetase superactivity.
5 View disease cluster →
Arts syndrome 1 shared genePRPS1 Related via 1 shared gene including PRPS1. X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome 1 shared genePRPS1 Related via 1 shared gene including PRPS1. PRPS1 deficiency disorder 1 shared genePRPS1 Related via 1 shared gene including PRPS1. Ataxia with deafness and vision loss 1 shared genePRPS1 Related via 1 shared gene including PRPS1. X-linked nonsyndromic hearing loss 1 shared genePRPS1 Related via 1 shared gene including PRPS1.