Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
Sensorineural Hearing Loss (disorder)
0.200 CausalMutation CLINVAR The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. 25182139

2015

Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
Sensorineural Hearing Loss (disorder)
0.200 Biomarker HPO