MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.300 Biomarker disease CTD_human Familial aggregation of parkinsonism in progressive supranuclear palsy. 19458322 2009
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.300 Biomarker disease CTD_human Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. 10802785 2000