PRSS12, serine protease 12, 8492

N. diseases: 50; N. variants: 1
Disease: Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.020 GeneticVariation disease BEFREE Mutations in the human neurotrypsin gene are associated with autosomal recessive mental retardation. 16902143 2006
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.020 Biomarker disease BEFREE These findings suggest that neurotrypsin-mediated proteolysis is required for normal synaptic function and suggest potential insights into the pathophysiological bases of mental retardation. 12459588 2002