MAPT, microtubule associated protein tau, 4137

N. diseases: 66; N. variants: 249
Disease: Pick Disease of the Brain ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease UNIPROT Mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. 11891833 2002
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease UNIPROT Pick's disease associated with the novel Tau gene mutation K369I. 11601501 2001
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker disease CTD_human Pick's disease associated with the novel Tau gene mutation K369I. 11601501 2001
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease UNIPROT Tau gene mutation K257T causes a tauopathy similar to Pick's disease. 11089577 2000
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker disease CTD_human This is in contrast to Pick's disease without any tau gene mutations, which consist of tau with mainly three microtubule-binding domains and only a trace of tau, with four microtubule-binding domains. 11117542 2000
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease UNIPROT This is in contrast to Pick's disease without any tau gene mutations, which consist of tau with mainly three microtubule-binding domains and only a trace of tau, with four microtubule-binding domains. 11117542 2000
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease UNIPROT Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits. 10604746 1999
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker disease CTD_human Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits. 10604746 1999
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker disease CTD_human Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), historically termed Pick's disease. 9641683 1998
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker disease GENOMICS_ENGLAND