PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: ACNE INVERSA, FAMILIAL, 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 GeneticVariation disease CLINVAR
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. 7596406 1995
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. 7550356 1995
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. 8634712 1995
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease. 8910898 1996
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation. 9225696 1997
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Alzheimer's disease-associated presenilins 1 and 2: accelerated amyloid fibril formation of mutant 410 Cys-->Tyr and 141 Asn-->Ile peptides. 9196071 1997
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing. 9680315 1997
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes. 9189043 1997
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Presenilin mutations in Alzheimer's disease. 9521418 1998
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. 9384602 1998
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online. 10447269 1999
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors. 10468510 1999
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies. 11684347 2001
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. 11524469 2001
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. 11710891 2001
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Transgenic mice expressing the PS1-A246E mutation: effects on spatial learning, exploration, anxiety, and motor coordination. 12493631 2003
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation. 15205973 2004
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Novel mutations and repeated findings of mutations in familial Alzheimer disease. 15776278 2005
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. 16628450 2006
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families. 16897084 2006
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins. 17545141 2007
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Dual roles of the transmembrane protein p23/TMP21 in the modulation of amyloid precursor protein metabolism. 17288597 2007
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees. 17553989 2007
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism. 17197420 2007