MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Supranuclear Palsy, Progressive, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.700 CausalMutation disease CLINVAR
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.700 GeneticVariation disease UNIPROT Mutational analysis of the tau gene in progressive supranuclear palsy. 10534245 1999
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.700 GeneticVariation disease UNIPROT Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. 11220749 2001
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.700 Biomarker disease CTD_human An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. 12325083 2002
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.700 GeneticVariation disease UNIPROT An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. 12325083 2002
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.700 GeneticVariation disease UNIPROT Tau gene delN296 mutation, Parkinson's disease, and atypical supranuclear palsy. 14991828 2004
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.700 GeneticVariation disease UNIPROT Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene. 14991829 2004
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.700 GeneticVariation disease UNIPROT A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy. 16157753 2005
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.700 Biomarker disease CTD_human Familial aggregation of parkinsonism in progressive supranuclear palsy. 19458322 2009
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.700 Biomarker disease CTD_human Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. 21685912 2011
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.700 Biomarker disease CTD_human Mitochondrial complex 1 inhibition increases 4-repeat isoform tau by SRSF2 upregulation. 25402454 2014