Annotation Detail
Information
- Associated Genes
- PSEN1
- Associated Variants
-
PSEN1 p.Ser169Pro (p.S169P)
(
ENST00000700267.1,
ENST00000700269.1,
ENST00000556951.6,
ENST00000700375.1,
ENST00000553599.6,
ENST00000700312.1,
ENST00000700306.1,
ENST00000357710.8,
ENST00000700324.1,
ENST00000557511.5,
ENST00000700468.1,
ENST00000700268.1,
ENST00000700437.1,
ENST00000554131.6,
ENST00000700320.1,
ENST00000700265.1,
ENST00000700271.1,
ENST00000700378.1,
ENST00000394164.5,
ENST00000700389.1,
ENST00000700469.1,
ENST00000700307.1,
ENST00000557293.6,
ENST00000700313.1,
ENST00000700323.1,
ENST00000324501.10,
ENST00000700317.1,
ENST00000700273.1,
ENST00000700321.1,
ENST00000700322.1 )
PSEN1 p.Gly206Ala (p.G206A) ( ENST00000357710.8, ENST00000700324.1, ENST00000557511.5, ENST00000700468.1, ENST00000700268.1, ENST00000700437.1, ENST00000554131.6, ENST00000700306.1, ENST00000556951.6, ENST00000700375.1, ENST00000553599.6, ENST00000700312.1, ENST00000700267.1, ENST00000700269.1, ENST00000700322.1, ENST00000324501.10, ENST00000700317.1, ENST00000700273.1, ENST00000700321.1, ENST00000557293.6, ENST00000700313.1, ENST00000700323.1, ENST00000700320.1, ENST00000700265.1, ENST00000700271.1, ENST00000700378.1, ENST00000394164.5, ENST00000700389.1, ENST00000700469.1, ENST00000700307.1 )
PSEN1 p.Gly206Val (p.G206V) ( ENST00000394164.5, ENST00000324501.10, ENST00000557511.5, ENST00000357710.8, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
STH p.Gly69Asp (p.G69D), MAPT c.1998+2821G>A ( ENST00000415613.6, ENST00000446361.7, ENST00000262410.10, ENST00000574436.5, ENST00000344290.10, ENST00000535772.6, ENST00000537309.1, ENST00000680674.1, ENST00000420682.7, ENST00000334239.12, ENST00000351559.10, ENST00000571987.5, ENST00000431008.7 )
MAPT p.Pro693Leu (p.P693L) ( ENST00000431008.7, ENST00000446361.7, ENST00000262410.10, ENST00000415613.6, ENST00000574436.5, ENST00000334239.12, ENST00000420682.7, ENST00000571987.5, ENST00000351559.10, ENST00000344290.10, ENST00000535772.6, ENST00000680674.1 )
PSEN1 p.Ser169Pro (p.S169P) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Gly206Ala (p.G206A) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Gly206Val (p.G206V) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
STH p.Gly69Asp (p.G69D), MAPT c.1998+2821G>A ( ENST00000262410.10, ENST00000334239.12, ENST00000344290.10, ENST00000351559.10, ENST00000415613.6, ENST00000420682.7, ENST00000431008.7, ENST00000446361.7, ENST00000535772.6, ENST00000571987.5, ENST00000574436.5, ENST00000680674.1, ENST00000537309.1 )
MAPT p.Pro693Leu (p.P693L) ( ENST00000262410.10, ENST00000334239.12, ENST00000344290.10, ENST00000351559.10, ENST00000415613.6, ENST00000420682.7, ENST00000431008.7, ENST00000446361.7, ENST00000535772.6, ENST00000571987.5, ENST00000574436.5, ENST00000680674.1 ) - Associated Disease
- frontotemporal dementia
- Source Database
- DisGeNET
- Description
- Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16).
- Pubmed
- 23885714
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.369077133910489
- Year of publication
- 2013
Drugs