Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 23299
Gene Symbol: BICD2
BICD2
0.100 GeneticVariation disease CLINVAR
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
0.100 GeneticVariation disease CLINVAR
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 The Apolipoprotein E genotype in patients affected by syndromes with focal cortical atrophy. 11311499 2001
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 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
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: 9526
Gene Symbol: MPDU1
MPDU1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 627
Gene Symbol: BDNF
BDNF
0.020 GeneticVariation disease BEFREE We also observed an interaction effect on brain structure between the BDNF and APOE genotypes: cortical atrophy was associated with harboring the apoliprotein E (APOE) ε4 allele only in BDNF val/met subjects (both in HC and PD groups). 31202861 2019
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
0.010 GeneticVariation disease BEFREE MRI revealed a significantly smaller brain volume in PLP-SYN mice at 12 months, which further decreased at 18 months together with increased volume of ventricles and cortical atrophy. 24243499 2014
Entrez Id: 23336
Gene Symbol: SYNM
SYNM
0.010 GeneticVariation disease BEFREE MRI revealed a significantly smaller brain volume in PLP-SYN mice at 12 months, which further decreased at 18 months together with increased volume of ventricles and cortical atrophy. 24243499 2014
Entrez Id: 30849
Gene Symbol: PIK3R4
PIK3R4
0.010 GeneticVariation disease BEFREE Finally, we report that mutations in VPS15 are associated with cortical atrophy and epilepsy in humans. 29311744 2018
Entrez Id: 2534
Gene Symbol: FYN
FYN
0.010 GeneticVariation disease BEFREE MRI revealed a significantly smaller brain volume in PLP-SYN mice at 12 months, which further decreased at 18 months together with increased volume of ventricles and cortical atrophy. 24243499 2014
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
0.010 GeneticVariation disease BEFREE MRI revealed a significantly smaller brain volume in PLP-SYN mice at 12 months, which further decreased at 18 months together with increased volume of ventricles and cortical atrophy. 24243499 2014
Entrez Id: 25824
Gene Symbol: PRDX5
PRDX5
0.010 GeneticVariation disease BEFREE MRI revealed a significantly smaller brain volume in PLP-SYN mice at 12 months, which further decreased at 18 months together with increased volume of ventricles and cortical atrophy. 24243499 2014
Entrez Id: 57026
Gene Symbol: PDXP
PDXP
0.010 GeneticVariation disease BEFREE MRI revealed a significantly smaller brain volume in PLP-SYN mice at 12 months, which further decreased at 18 months together with increased volume of ventricles and cortical atrophy. 24243499 2014
Entrez Id: 3485
Gene Symbol: IGFBP2
IGFBP2
0.010 GeneticVariation disease BEFREE We then test cAGE's association with serum insulin-like growth factor binding protein 2 (IGF-BP2), which has previously been associated with age-related cognitive changes in animals, and with cortical atrophy in older humans. 26043140 2015
Entrez Id: 2266
Gene Symbol: FGG
FGG
0.010 GeneticVariation disease BEFREE Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report. 29769041 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.110 Biomarker disease HPO
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: 2896
Gene Symbol: GRN
GRN
0.110 Biomarker disease HPO
Entrez Id: 5521
Gene Symbol: PPP2R2B
PPP2R2B
0.110 Biomarker disease HPO