Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.100 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
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: C4315130
Disease: Hippocampal atrophy
Hippocampal atrophy 		0.100 Biomarker phenotype HPO
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.100 Biomarker disease HPO
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease BEFREE ABCA7 rs3764650 was significantly associated with AD and the GG genotype carried a reduced risk for AD (odds ratio = 0.52, p = 0.0026). 24908168 2014
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: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		0.020 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: C0002726
Disease: Amyloidosis
Amyloidosis 		0.050 Biomarker disease BEFREE ABCA7 Deficiency Accelerates Amyloid-β Generation and Alzheimer's Neuronal Pathology. 27030769 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 Biomarker disease BEFREE ABCA7 and Pathogenic Pathways of Alzheimer's Disease. 29401741 2018
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.320 AlteredExpression disease BEFREE ABCA7 genotype altered Aβ levels in cerebrospinal fluid in Alzheimer's disease without dementia. 30596067 2018
CUI: C0497327
Disease: Dementia
Dementia 		0.020 AlteredExpression disease BEFREE ABCA7 genotype altered Aβ levels in cerebrospinal fluid in Alzheimer's disease without dementia. 30596067 2018
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.120 GeneticVariation phenotype BEFREE ABCA7 polymorphisms correlate with memory impairment and default mode network in patients with APOEε4-associated Alzheimer's disease. 31831047 2019
CUI: C0542476
Disease: Forgetful
Forgetful 		0.110 GeneticVariation phenotype BEFREE ABCA7 polymorphisms correlate with memory impairment and default mode network in patients with APOEε4-associated Alzheimer's disease. 31831047 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease BEFREE A complex association of ABCA7 genotypes with sporadic Alzheimer disease in Chinese Han population. 24113560 2015
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE A stop-gain mutation in ABCA7 (E1679X) and missense mutation in CD2AP (K633R) were highly significant in Caucasian LOAD cases, and mutations in EPHA1 (P460L) and BIN1 (K358R) were significant in Caribbean Hispanic families with LOAD. 26101835 2015
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.500 GeneticVariation disease ORPHANET ABCA7 rare variants and Alzheimer disease risk. 27037229 2016
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 Biomarker group BEFREE Additionally, recent research provided evidence that, along with other ABC transporters (ABCA1 and ABCA7), they might be cornerstones to tackle neurodegenerative diseases. 31189668 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 AlteredExpression disease BEFREE Additionally, the ABCA7 mRNA expression level in AD subjects was significantly correlated with Mini-Mental State Examination recall, the Alzheimer's Disease Assessment Scale total score, and the Clinical Dementia Rating score. 28222527 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease BEFREE All patients carrying a loss-of-function mutation in ABCA7 exhibited a classical Alzheimer disease phenotype, though with a striking wide onset age range, suggesting the influence of unknown modifying factors. 27037232 2016