Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.110 Biomarker disease BEFREE Pharmacological treatment with mirtazapine rescues cortical atrophy and respiratory deficits in MeCP2 null mice. 26806603 2016
Entrez Id: 6622
Gene Symbol: SNCA
SNCA 		0.110 Biomarker disease BEFREE Neuropathological investigation revealed enlarged ventricles, marked cerebral cortical atrophy and Purkinje cell loss, less-prominent cerebellar and pontine atrophy, and neuronal intranuclear ubiquitin-positive inclusions, consistent with Marinesco bodies, which did not stain for long polyglutamine tracts, alpha-synuclein, tau, or transactive response DNA-binding protein 43. 26340331 2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.110 GeneticVariation disease BEFREE To investigate whether a similar pattern of cortical atrophy is present in presymptomatic presenilin 1 E280A mutation carriers an average of 6 years before clinical symptom onset. 23134660 2013
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.110 GeneticVariation disease BEFREE ARX mutation testing should be undertaken in children aged less than 1 year with Ohtahara syndrome and a movement disorder, and in infants with unexplained neurodegeneration, progressive white matter loss, and cortical atrophy. 19747203 2010
Entrez Id: 2896
Gene Symbol: GRN
GRN 		0.110 GeneticVariation disease BEFREE Cortical atrophy and language network reorganization associated with a novel progranulin mutation. 19020205 2009
Entrez Id: 5521
Gene Symbol: PPP2R2B
PPP2R2B 		0.110 Biomarker disease BEFREE SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion. 11171892 2001
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.110 Biomarker disease HPO
Entrez Id: 2896
Gene Symbol: GRN
GRN 		0.110 Biomarker disease HPO
Entrez Id: 5521
Gene Symbol: PPP2R2B
PPP2R2B 		0.110 Biomarker disease HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.110 Biomarker disease HPO
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.110 Biomarker disease HPO
Entrez Id: 6622
Gene Symbol: SNCA
SNCA 		0.110 Biomarker disease HPO
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.100 Biomarker disease BEFREE The model shows that, for instance, APOE carriers have a significantly higher pace of cortical atrophy but not earlier atrophy onset. 29780348 2018
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.100 GeneticVariation disease BEFREE Healthy versus Entorhinal Cortical Atrophy Identification in Asymptomatic APOE4 Carriers at Risk for Alzheimer's Disease. 29278888 2018
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.100 Biomarker disease BEFREE We identified the prevalence of APOE-ε4 and evaluated its association with cortical atrophy. 30511009 2018
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.100 Biomarker disease BEFREE As the detrimental effects of APOE4 seen in older AD patients were not found in younger AD patients, we suggest that some unrevealed factors are associated with cortical atrophy and non-amnestic cognitive dysfunction in young AD with APOE4 noncarriers. 29376853 2018
Entrez Id: 4576
Gene Symbol: TRNT
TRNT 		0.100 CausalMutation disease CLINVAR CO2-sensitive tRNA modification associated with human mitochondrial disease. 29760464 2018
Entrez Id: 4576
Gene Symbol: TRNT
TRNT 		0.100 CausalMutation disease CLINVAR Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype. 30236074 2018
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation disease CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.100 Biomarker disease BEFREE Higher CAIDE Dementia Risk Score (version without APOE) was significantly associated with higher total tau, more severe MTA, WMC, and global cortical atrophy-frontal subscale. 27143429 2016
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.100 Biomarker disease BEFREE Compared to HC, APOE ε 4 carriers presented cortical atrophy in right cingulate gyrus (R_CG) (GMV: APOE carriers: 8475.23 ± 1940.73 mm3, HC: 9727.34 ± 1311.57 mm3, t = 2.314, p = 0.026, corrected) and left insular (GMT: APOE ε 4 carriers: 3.83 ± 0.37 mm, HC: 4.05 ± 0.25 mm, t = 2.197, p = 0.033, corrected). 27097839 2016
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.100 Biomarker disease BEFREE Asymmetry of cortical atrophy and normal APOE ε4 prevalence constitute deviations from typical AD. 27566743 2016
Entrez Id: 4576
Gene Symbol: TRNT
TRNT 		0.100 CausalMutation disease CLINVAR New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. 22638997 2012
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.100 GeneticVariation disease BEFREE In conclusion, in our sample CI was associated with higher subcortical damage and cortical atrophy but not with APOE-epsilon4 genotype. 19965518 2009
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.100 GeneticVariation disease BEFREE Our aim was to define the relationship between APOE epsilon4 allele load and regionally-specific brain cortical atrophy in Alzheimer's Disease (AD). 19013250 2009