Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.450 GeneticVariation group BEFREE Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports. 28821231 2017
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.450 GeneticVariation group BEFREE Pantothenate kinase-associated neurodegeneration (PKAN) disease is an autosomal recessive neurodegenerative disorder with iron storage in the brain due to PANK2 gene mutations. 24075960 2014
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.450 Biomarker group BEFREE NBIA/HSS is a neurodegenerative disorder associated with iron accumulation in specific brain regions. 21816641 2012
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.450 GeneticVariation group BEFREE Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disorder caused by pantothenate kinase (PANK2) gene mutations. 21999968 2012
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.450 Biomarker group CTD_human Adult-onset neurodegeneration with brain iron accumulation and cortical alpha-synuclein and tau pathology: a distinct clinicopathological entity. 17296847 2007
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.450 Biomarker group CTD_human Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation. 16450344 2006
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.450 GeneticVariation group BEFREE PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease. 16962235 2006
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.450 Biomarker group HPO
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
0.420 Biomarker group BEFREE TTC19 deficiency is a progressive neurodegenerative disease associated with isolated mitochondrial respiratory chain (MRC) complex III deficiency and loss-of-function mutations in the TT19 gene in the few patients reported so far. 25887401 2016
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
0.420 Biomarker group BEFREE TTC19 has been reported to be a causative gene of a neurodegenerative disease in Italian and Portuguese families and to be involved in the pathogenesis of mitochondrial respiratory chain complex III (cIII) deficiency. 24397319 2014
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
0.420 Biomarker group CTD_human Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 21278747 2011
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
0.420 Biomarker group HPO
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
0.400 Biomarker group BEFREE Synucleinopathies are a group of neurodegenerative diseases that share a common pathological lesion of intracellular protein inclusions largely composed of aggregates of alpha-synuclein protein. 28319736 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.400 Biomarker group BEFREE Tauopathies represent heterogeneous groups of neurodegenerative diseases that are characterised by abnormal deposition of the microtubule-associated protein tau. 28934963 2018
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
0.400 Biomarker group BEFREE Mounting evidence indicates that soluble oligomeric forms of amyloid proteins linked to neurodegenerative disorders, such as amyloid-β (Aβ), tau, or α-synuclein (αSyn) might be the major deleterious species for neuronal function in these diseases. 28533388 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.400 GeneticVariation group BEFREE Tauopathies are a class of neurodegenerative diseases, including Alzheimer's disease, frontotemporal dementia and progressive supranuclear palsy, which are associated with the pathological aggregation of tau protein into neurofibrillary tangles (NFT). 28610892 2018
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
0.400 Biomarker group BEFREE Oligomeric species populated during the aggregation process of α-synuclein have been linked to neuronal impairment in Parkinson's disease and related neurodegenerative disorders. 29242346 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.400 Biomarker group BEFREE The progressive spread of pathological brain lesions containing aggregated tau protein is a hallmark of Alzheimer's disease and other neurodegenerative diseases. 28882310 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.400 GeneticVariation group BEFREE The H1 haplotype of the microtubule-associated protein tau (MAPT) locus is genetically associated with neurodegenerative diseases, including Parkinson's disease (PD), and affects gene expression and splicing. 28689993 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.400 Biomarker group BEFREE Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by the presence of extracellular amyloid plaques consisting of Amyloid-β peptide (Aβ) aggregates and neurofibrillary tangles formed by aggregation of hyperphosphorylated microtubule-associated protein tau. 28982592 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.400 GeneticVariation group BEFREE Meta-analysis of the association between variants in MAPT and neurodegenerative diseases. 28402959 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.400 Biomarker group BEFREE Alzheimer's disease (AD) is a chronic neurodegenerative disease characterized by pathology of accumulated amyloid β (Aβ) and phosphorylated tau proteins in the brain. 29042514 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.400 GeneticVariation group BEFREE MAPT mutations cause neurodegenerative diseases such as frontotemporal dementia but, strikingly, patients with the same mutation may have different clinical phenotypes. 28978354 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.400 Biomarker group BEFREE Tau protein inclusions are a frequent hallmark of a variety of neurodegenerative disorders. 28319892 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.400 Biomarker group BEFREE Tauopathies constitute neurodegenerative diseases that are characterized by the intracellular deposition of filaments made of hyperphosphorylated tau protein. 27940600 2018