Disease: Phosphoribosylpyrophosphate Synthetase Superactivity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		0.710 Biomarker disease CLINGEN Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies. 28742244 2017
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		0.710 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		0.710 Biomarker disease CLINGEN A small disturbance, but a serious disease: the possible mechanism of D52H-mutant of human PRS1 that causes gout. 23509005 2013
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		0.710 GeneticVariation disease BEFREE Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. 22246954 2012
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		0.710 Biomarker disease CLINGEN Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. 22246954 2012
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		0.710 Biomarker disease CLINGEN Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman. 12847698 2003
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		0.710 Biomarker disease CLINGEN Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase. 10066814 1999
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		0.710 Biomarker disease GENOMICS_ENGLAND Mapping of DFN2 to Xq22. 8968763 1996
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		0.710 Biomarker disease CLINGEN The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity. 7593598 1995
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		0.710 GeneticVariation disease UNIPROT The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity. 7593598 1995
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		0.710 Biomarker disease CLINGEN Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene. 8253776 1993
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		0.710 Biomarker disease GENOMICS_ENGLAND X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. 8498830 1993
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		0.710 CausalMutation disease CLINVAR
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		0.710 Biomarker disease CTD_human