Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.500 GeneticVariation disease BEFREE Apolipoprotein E genotype and neuropathological phenotype in two members of a German family with chromosome 14-linked early onset Alzheimer's disease. 8525799 1995
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.500 GeneticVariation disease BEFREE Apolipoprotein E genotype and concomitant clinical features in early-onset Alzheimer's disease. 8803820 1996
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		0.330 GeneticVariation disease BEFREE R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia. 25160042 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.400 GeneticVariation disease BEFREE A presenilin-1 mutation (T245P) in transmembrane domain 6 causes early onset Alzheimer's disease. 16469444 2006
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.400 GeneticVariation disease BEFREE A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis. 17507029 2007
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.400 GeneticVariation disease BEFREE A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis. 17645236 2007
Entrez Id: 6653
Gene Symbol: SORL1
SORL1 		0.080 GeneticVariation disease BEFREE A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease. 27026413 2016
Entrez Id: 351
Gene Symbol: APP
APP 		0.500 GeneticVariation disease CLINVAR A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene. 15365148 2004
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.400 GeneticVariation disease BEFREE A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. 11710891 2001
Entrez Id: 351
Gene Symbol: APP
APP 		0.500 GeneticVariation disease BEFREE A guanine-to-adenine transition in exon 17 of the APP gene resulting in a valine-to-isoleucine substitution at codon 717 was detected in 14 subjects including 6 patients with EOAD. 25138979 2014
Entrez Id: 4311
Gene Symbol: MME
MME 		0.010 GeneticVariation disease BEFREE A loss-of-function MME mutation did not cause early-onset Alzheimer's disease. 26991897 2016
Entrez Id: 351
Gene Symbol: APP
APP 		0.500 GeneticVariation disease BEFREE A minority of patients with sporadic early-onset Alzheimer's disease (AD) exhibit de novo germ line mutations in the autosomal dominant genes such as APP, PSEN1, or PSEN2. 30114415 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.400 GeneticVariation disease BEFREE A minority of patients with sporadic early-onset Alzheimer's disease (AD) exhibit de novo germ line mutations in the autosomal dominant genes such as APP, PSEN1, or PSEN2. 30114415 2018
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2 		0.400 GeneticVariation disease BEFREE A minority of patients with sporadic early-onset Alzheimer's disease (AD) exhibit de novo germ line mutations in the autosomal dominant genes such as APP, PSEN1, or PSEN2. 30114415 2018
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.010 GeneticVariation disease BEFREE A missense variant in TCIRG1, present in a NHW patient and segregating in 3 cases of a Hispanic family, was more frequent in EOAD cases (odds ratio [OR], 2.13; 95% CI, 0.99-4.55; P = .06; BP = 0.413), and significantly associated with LOAD (OR, 2.23; 95% CI, 1.37-3.62; P = 7.2 × 10-4; BP = 5.0 × 10-3). 28738127 2017
Entrez Id: 79890
Gene Symbol: RIN3
RIN3 		0.010 GeneticVariation disease BEFREE A missense variant in the LOAD risk gene RIN3 showed suggestive evidence of association with EOAD after Bonferroni correction (OR, 4.56; 95% CI, 1.26-16.48; P = .02, BP = 0.091). 28738127 2017
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2 		0.400 GeneticVariation disease BEFREE A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease. 11723295 2001
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.400 GeneticVariation disease BEFREE A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease. 12484344 2002
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.400 GeneticVariation disease BEFREE A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis. 15364419 2004
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.400 GeneticVariation disease BEFREE A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer's disease. 16388371 2005
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.400 GeneticVariation disease BEFREE A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease. 19853643 2010
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.400 GeneticVariation disease BEFREE A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease. 21501661 2011
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.400 GeneticVariation disease BEFREE A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman. 24413619 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.400 GeneticVariation disease BEFREE A Novel Presenilin 1 Mutation in Early-Onset Alzheimer's Disease With Prominent Frontal Features. 24463146 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.400 GeneticVariation disease BEFREE A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia. 24718101 2014