Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | CausalMutation | CLINVAR | [18F]AV-1451 PET in behavioral variant frontotemporal dementia due to MAPT mutation. | 28097206 | 2016 |
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T | 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 |
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T | 0.700 | CausalMutation | CLINVAR | Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations. | 20045477 | 2010 |
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T | 0.700 | CausalMutation | CLINVAR | Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration. | 19365643 | 2009 |
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T | 0.700 | CausalMutation | CLINVAR | Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations. | 19786698 | 2009 |
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T | 0.700 | CausalMutation | CLINVAR | Intrafamilial clinical phenotypic heterogeneity with MAPT gene splice site IVS10+16C>T mutation. | 19766248 | 2009 |
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T | 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 |
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T | 0.700 | CausalMutation | CLINVAR | Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. | 11912108 | 2002 |
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T | 0.700 | CausalMutation | CLINVAR | Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation. | 11971081 | 2002 |
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T | 0.700 | CausalMutation | CLINVAR | The genetic and pathological classification of familial frontotemporal dementia. | 11708988 | 2001 |
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T | 0.700 | CausalMutation | CLINVAR | Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. | 9641683 | 1998 |