PubMed:9932968
Annnotations
{"target":"http://pubannotation.org/docs/sourcedb/PubMed/sourceid/9932968","sourcedb":"PubMed","sourceid":"9932968","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/9932968","text":"A lack of the R406W tau mutation in progressive supranuclear palsy and corticobasal degeneration.\nLinkage disequilibrium studies suggest that progressive supranuclear palsy (PSP) is an autosomal recessive condition that maps to a polymorphism in the tau gene. These results provide evidence that homozygous mutations in the tau gene may cause PSP. Recently, a missense mutation in exon 13 of one tau allele (R406W) was found in a single family with an atypical clinicopathologic form of dominantly inherited PSP. The authors report that the R406W mutation is lacking in 25 unrelated individuals with PSP and in six unrelated individuals with another tauopathy-corticobasal degeneration.","tracks":[{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":250,"end":253},"obj":"gene:4137"},{"id":"T1","span":{"begin":174,"end":177},"obj":"disease:C0038868"},{"id":"T2","span":{"begin":250,"end":253},"obj":"gene:4137"},{"id":"T3","span":{"begin":142,"end":172},"obj":"disease:C0038868"},{"id":"T4","span":{"begin":324,"end":327},"obj":"gene:4137"},{"id":"T5","span":{"begin":343,"end":346},"obj":"disease:C0038868"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"},{"subj":"T4","pred":"source","obj":"DisGeNET"},{"subj":"T5","pred":"source","obj":"DisGeNET"}]},{"project":"DisGeNET5_variant_disease","denotations":[{"id":"9932968-0#14#19#geners63750424","span":{"begin":14,"end":19},"obj":"geners63750424"},{"id":"9932968-0#36#66#diseaseC0038868","span":{"begin":36,"end":66},"obj":"diseaseC0038868"},{"id":"9932968-0#71#96#diseaseC0393570","span":{"begin":71,"end":96},"obj":"diseaseC0393570"},{"id":"9932968-4#28#33#geners63750424","span":{"begin":541,"end":546},"obj":"geners63750424"},{"id":"9932968-4#137#146#diseaseC0949664","span":{"begin":650,"end":659},"obj":"diseaseC0949664"}],"relations":[{"id":"14#19#geners6375042436#66#diseaseC0038868","pred":"associated_with","subj":"9932968-0#14#19#geners63750424","obj":"9932968-0#36#66#diseaseC0038868"},{"id":"14#19#geners6375042471#96#diseaseC0393570","pred":"associated_with","subj":"9932968-0#14#19#geners63750424","obj":"9932968-0#71#96#diseaseC0393570"},{"id":"28#33#geners63750424137#146#diseaseC0949664","pred":"associated_with","subj":"9932968-4#28#33#geners63750424","obj":"9932968-4#137#146#diseaseC0949664"}],"attributes":[{"subj":"9932968-0#14#19#geners63750424","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"9932968-0#36#66#diseaseC0038868","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"9932968-0#71#96#diseaseC0393570","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"9932968-4#28#33#geners63750424","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"9932968-4#137#146#diseaseC0949664","pred":"source","obj":"DisGeNET5_variant_disease"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"9932968-2#64#67#gene4137","span":{"begin":324,"end":327},"obj":"gene4137"},{"id":"9932968-2#83#86#diseaseC0038868","span":{"begin":343,"end":346},"obj":"diseaseC0038868"}],"relations":[{"id":"64#67#gene413783#86#diseaseC0038868","pred":"associated_with","subj":"9932968-2#64#67#gene4137","obj":"9932968-2#83#86#diseaseC0038868"}],"attributes":[{"subj":"9932968-2#64#67#gene4137","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"9932968-2#83#86#diseaseC0038868","pred":"source","obj":"DisGeNET5_gene_disease"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"DisGeNET","color":"#d0ec93","default":true},{"id":"DisGeNET5_variant_disease","color":"#ec93ea"},{"id":"DisGeNET5_gene_disease","color":"#93ecd4"}]}]}}