Disease: Muscle hypotonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling. 25785835 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Association of PRPS1 Mutations with Disease Phenotypes. 26089585 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. 24528855 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. 25491489 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy. 24285972 2013
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR PRPS1 mutations: four distinct syndromes and potential treatment. 20380929 2010
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. 20021999 2010
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Arts syndrome is caused by loss-of-function mutations in PRPS1. 17701896 2007
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24. 15955956 2005
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman. 12847698 2003
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Mapping of DFN2 to Xq22. 8968763 1996
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. 8498830 1993
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO