rs63751011, MAPT

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.700 CausalMutation CLINVAR [18F]AV-1451 PET in behavioral variant frontotemporal dementia due to MAPT mutation. 28097206 2016
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.700 CausalMutation CLINVAR Neurodegenerative disorder FTDP-17-related tau intron 10 +16C → T mutation increases tau exon 10 splicing and causes tauopathy in transgenic mice. 23680655 2013
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.700 CausalMutation CLINVAR Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations. 20045477 2010
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.700 CausalMutation CLINVAR Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration. 19365643 2009
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.700 CausalMutation CLINVAR Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations. 19786698 2009
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.700 CausalMutation CLINVAR Intrafamilial clinical phenotypic heterogeneity with MAPT gene splice site IVS10+16C>T mutation. 19766248 2009
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.700 CausalMutation CLINVAR Familial early-onset dementia with tau intron 10 + 16 mutation with clinical features similar to those of Alzheimer disease. 17923640 2007
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.700 CausalMutation CLINVAR Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. 11912108 2002
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.700 CausalMutation CLINVAR Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation. 11971081 2002
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.700 CausalMutation CLINVAR The genetic and pathological classification of familial frontotemporal dementia. 11708988 2001
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.700 CausalMutation CLINVAR Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 9641683 1998
Memory impairment
CUI: C0233794
Disease: Memory impairment
0.700 CausalMutation CLINVAR
Dementia
CUI: C0497327
Disease: Dementia
0.700 CausalMutation CLINVAR
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
0.700 CausalMutation CLINVAR