Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
0.310 GeneticVariation disease BEFREE Variants in RARS1 impair ArgRS activity and do not only lead to a classic hypomyelination presentation with nystagmus and spasticity, but to a wide spectrum, ranging from severe, early-onset epileptic encephalopathy with brain atrophy to mild disease with relatively preserved myelination. 31814314 2020
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
0.310 Biomarker disease GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2
0.300 Biomarker disease GENOMICS_ENGLAND Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. 31637422 2019
Entrez Id: 128869
Gene Symbol: PIGU
PIGU
0.300 Biomarker disease GENOMICS_ENGLAND Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. 31353022 2019
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6
0.300 Biomarker disease GENOMICS_ENGLAND Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects. 29669219 2018
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2
0.300 Biomarker disease GENOMICS_ENGLAND Mechanism of hypertriglyceridemia in CTP:phosphoethanolamine cytidylyltransferase-deficient mice. 22764088 2012
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.200 Biomarker disease BEFREE The pathological hallmarks of the disease include extra-neuronal deposition of amyloid-β (Aβ) as plaques and intra-neuronal hyperphosphorylated tau protein as neurofibrillary tangles, which cause neurodegeneration and cerebral atrophy. 30902161 2019
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.200 Biomarker disease BEFREE We have also developed a blood tau biomarker that correlates with a cognitive decline and also with neuroimaging determinations of brain atrophy. 31099321 2019
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.200 Biomarker disease BEFREE Alzheimer's disease is characterized by cognitive alterations, cerebral atrophy and neuropathological lesions including neuronal loss, accumulation of misfolded and aggregated β-amyloid peptides (Aβ) and tau proteins. 31481130 2019
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.200 GeneticVariation disease BEFREE P301L is the tau mutation most frequently observed in patients with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and this mouse model recapitulates the progressive development of glial and neurofibrillary tangles, and associated cerebral atrophy observed in patients. 29568692 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.200 Biomarker disease BEFREE AD is characterized by brain atrophy due to neuronal and synaptic loss, extracellular amyloid plaques composed of amyloid-beta peptide (A<i>β</i>), and neurofibrillary tangles of hyperphosphorylated tau protein. 30405709 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.200 Biomarker disease BEFREE Alzheimer's disease is characterized by aggregated β-amyloid and tau proteins, but the clinical presentations and patterns of brain atrophy vary substantially. 30086796 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.200 Biomarker disease BEFREE We aimed to explore the association between CSF T-tau and brain atrophy 1 year post-stroke. 28583116 2017
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.200 Biomarker disease BEFREE Recent evidence suggests that the pathophysiology and neuropathology of Alzheimer's disease comprises more than amyloid accumulation, tau protein pathology and finally brain atrophy with dementia. 23519520 2013
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.200 Biomarker disease BEFREE Increased concentrations of tau protein in the CSF and an increase in brain atrophy were detected 15 years before expected symptom onset. 22784036 2012
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.200 Biomarker disease BEFREE The annual rate of whole brain atrophy in the MAPT subjects was 2.4% per year (95% confidence interval [CI] 1.9-2.8). 21753165 2011
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.200 Biomarker disease BEFREE An excess of senile plaques (beta-amyloid protein) and neurofibrillary tangles (tau protein), ventricular enlargement, and cortical atrophy characterizes it. 16246446 2005
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.200 Biomarker disease BEFREE A population-based study of tau protein and ubiquitin in cerebrospinal fluid in 85-year-olds: relation to severity of dementia and cerebral atrophy, but not to the apolipoprotein E4 allele. 8846237 1995
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.200 Biomarker disease HPO
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.180 GeneticVariation disease BEFREE Plasma progranulin levels predict the presence of GRN null mutations independent of proximity to symptoms and brain atrophy. 29146050 2018
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.180 Biomarker disease BEFREE Participants from the Alzheimer's Disease Neuroimaging Initiative cohort (ADNI; n = 1,239), with both MRI scans and genotype data, were used to assess the association between brain atrophy and previously identified HS-Aging risk SNPs in the following genes: GRN, TMEM106B, ABCC9, and KCNMB2 (minor allele frequency for each is >30%). 27003218 2016
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.180 Biomarker disease BEFREE Progressive brain atrophy was observed in all groups, with fastest rates of whole brain atrophy in GRN, followed by sporadic FTD, C9ORF72 and MAPT. 25683866 2015
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.180 GeneticVariation disease BEFREE Carriers of the GRN mutation are characterized by a variable degree of asymmetric brain atrophy, predominantly in the frontal, temporal, and parietal lobes. 25317628 2014
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.180 GeneticVariation disease BEFREE We aimed to determine the regional pattern of brain atrophy associated with the C9ORF72 gene mutation, and to determine which regions best differentiate C9ORF72 from subjects with mutations in tau and progranulin, and from sporadic frontotemporal dementia. 22366795 2012
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.180 Biomarker disease BEFREE Rates of whole brain atrophy in GRN, and hippocampal atrophy in MAPT, were associated with age, with older subjects showing slower rates of atrophy (p = 0.01 and p < 0.001). 21753165 2011