Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior 		0.100 Biomarker phenotype HPO
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.100 Biomarker disease HPO
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		0.300 Biomarker disease CTD_human Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease. 25807283 2015
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		0.300 Biomarker disease CTD_human Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. 21460840 2011
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 GeneticVariation disease BEFREE We observed association of both disorders with genes in a region of chromosome 7, including PILRA and ZCWPW1 (peak AMD SNP rs7792525, minor allele frequency [MAF] = 19%, odds ratio [OR] = 1.14, p = 2.34 × 10(-6)), and with ABCA7 (peak AMD SNP rs3752228, MAF = 0.054, OR = 1.22, p = 0.00012). 24439028 2014
CUI: C0085631
Disease: Agitation
Agitation 		0.100 Biomarker phenotype HPO
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C1837149
Disease: Alzheimer Disease 9
Alzheimer Disease 9 		0.300 Biomarker disease CTD_human
CUI: C4282179
Disease: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO
ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO 		0.400 GeneticVariation phenotype UNIPROT Rare ABCA7 variants in 2 German families with Alzheimer disease. 29577078 2018
CUI: C4282179
Disease: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO
ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO 		0.400 GeneticVariation phenotype UNIPROT Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study. 26141617 2015
CUI: C4282179
Disease: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO
ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO 		0.400 GeneticVariation phenotype UNIPROT Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease. 25807283 2015
CUI: C4282179
Disease: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO
ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO 		0.400 SusceptibilityMutation phenotype CLINVAR
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.320 Biomarker disease CTD_human Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. 21460840 2011
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.320 Biomarker disease BEFREE Pathogenic variants in the autosomal dominant genes PSEN1, PSEN2, or APP, APOE4 alleles, and rare variants within TREM2, SORL1, and ABCA7 contribute to early-onset Alzheimer's disease (EOAD). 31381512 2019
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.320 GeneticVariation disease BEFREE Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease. 28447221 2017
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.320 Biomarker disease CTD_human Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease. 25807283 2015
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE Thus, the present work aimed to assess the involvement of CD33 (rs3865444), ABCA7 (rs3764650), CR1 (rs6656401), and MS4A6A (rs610932) with LOAD in a sample from southeastern Brazil. 28477215 2017
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE This study showed that ABCA7 SNP rs4147929 might be a predisposing factor for LOAD. 31659653 2020
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE ABCA7-rs3764650-C and EPHA1-rs11767557-A associated with increased rates of memory decline in subjects with a final diagnosis of MCI/LOAD. 25189118 2015
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 Biomarker disease BEFREE Correction to: ABCA7 and EphA1 Genes Polymorphisms in Late-Onset Alzheimer's Disease. 31823285 2020
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer's disease (LOAD). 28447221 2017
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 AlteredExpression disease BEFREE To determine whether any of the novel LOAD risk variants are eSNPs, we tested their cis-association with expression of 6 nearby LOAD candidate genes detectable in human brain (ABCA7, BIN1, CLU, MS4A4A, MS4A6A, PICALM) and an additional 13 genes ±100 kb of these SNPs. 22722634 2012
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE Large-scale genome wide association studies (GWAS) for LOAD have identified 10 novel risk genes: ABCA7, BIN1, CD2AP, CD33, CLU, CR1, EPHA1, MS4A6A, MS4A6E, and PICALM. 23226438 2012
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 Biomarker disease BEFREE In addition to apolipoprotein E (APOE), recent large genome-wide association studies (GWASs) have identified nine other genes/loci (CR1, BIN1, CLU, PICALM, MS4A4/MS4A6E, CD2AP, CD33, EPHA1 and ABCA7) for late-onset Alzheimer's disease (LOAD). 22832961 2012