Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 Biomarker disease HPO
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 Biomarker disease BEFREE Of potentially even greater importance it emerges that TDP-43 accumulation and inclusion formation characterises not only most sALS cases but also those that arise from mutations in several genes including TARDBP (predominantly ALS cases) itself, C9ORF72 (ALS and FTD cases), progranulin (predominantly FTD phenotypes), VAPB (predominantly ALS cases) and in some ALS cases with rare genetic variants of uncertain pathogenicity (CHMP2B). 22105541 2011
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 Biomarker disease BEFREE This unusual combination of inclusions appears pathognomonic for C9orf72 repeat expansion positive MND/ALS and FTLD-TDP which we believe form a pathologically distinct subset of TDP-43 proteinopathies. 22101323 2011
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 Biomarker disease BEFREE Our findings indicate that repeat expansion in C9ORF72 is a major cause of both FTD and ALS. 21944778 2011
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 Biomarker disease BEFREE The discovery of C9ORF72 repeat expansions provides novel insights into the pathogenesis of ALS and FTD and highlights the importance of noncoding repeat expansions and RNA toxicity in neurodegenerative diseases. 23160421 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 GeneticVariation disease BEFREE Our findings indicate that the C9ORF72 mutation is a major cause of familial frontotemporal dementia with TDP-43 pathology, that likely accounts for the majority of families with combined frontotemporal dementia/amyotrophic lateral sclerosis presentation, and further support the concept that frontotemporal dementia and amyotrophic lateral sclerosis represent a clinicopathological spectrum of disease with overlapping molecular pathogenesis. 22344582 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 GeneticVariation disease BEFREE The C9orf72 mutation should be analyzed in sporadic ALS patients after determining their family histories not only of frontotemporal dementia but also of primary progressive aphasia. 22727276 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 Biomarker disease BEFREE FALS patients with C9ORF72 expansions had more frequent association with FTD than the other FALS patients (p<0.0001 vs SOD1, p=0.04 vs TARDBP, p=0.004 vs FUS, p=0.03 vs other FALS). 22499346 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 GeneticVariation disease BEFREE It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. 22418734 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 GeneticVariation disease BEFREE Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation. 22964910 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 GeneticVariation disease BEFREE Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. 22406228 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 Biomarker disease BEFREE The C9ORF72 repeat expansion is a relatively common cause of FTD in Australian populations, and is especially common in those with FTD-ALS, psychotic features, and a strong family history. 22875086 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 GeneticVariation disease BEFREE Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. 22300873 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 Biomarker disease BEFREE C9ORF72 genotyping was performed in 580 FTD, 995 ALS, and 160 FTD-ALS patients, and 1444 controls, leading to the identification of 211 patients with pathogenic C9ORF72 repeat expansions. 22840558 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 GeneticVariation disease BEFREE A total of 76 subjects, including 56 with a clinical diagnosis of behavioural variant frontotemporal dementia and a mutation in one of these genes (19 with C9ORF72 mutations, 25 with tau mutations and 12 with progranulin mutations) and 20 sporadic subjects with behavioural variant frontotemporal dementia (including 50% with amyotrophic lateral sclerosis), with magnetic resonance imaging were included in this study. 22366795 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 GeneticVariation disease BEFREE Mutations in MAPT give rise to FTLD-tau and mutations in C9ORF72 and GRN to FTLD-TDP. 22355793 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 GeneticVariation disease BEFREE ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations. 22550220 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 GeneticVariation disease BEFREE Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion. 22399793 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 GeneticVariation disease BEFREE These findings support the C9ORF72 mutation as an important newly recognized cause of ALS, provide a more detailed characterization of the associated clinical and pathological features and further demonstrate the clinical and molecular overlap between ALS and FTD. 22228244 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 GeneticVariation disease BEFREE Hexanucleotide repeat expansions in C9orf72 were found in 37 patients with familial (28.7%) and five with sporadic frontotemporal dementia (2.2%). 22300876 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 GeneticVariation disease BEFREE Intronic expansion of the GGGGCC hexanucleotide repeat within the C9ORF72 gene causes frontotemporal dementia and amyotrophic lateral sclerosis/motor neuron disease in both familial and sporadic cases. 22366792 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 GeneticVariation disease BEFREE A hexanucleotide repeat expansion (RE) in C9ORF72 gene was recently reported as the main cause of amyotrophic lateral sclerosis (ALS) and cases with frontotemporal dementia. 22766072 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 Biomarker disease BEFREE Here we show using NMR and CD spectroscopy that the C9orf72 hexanucleotide expansion can form a stable G-quadruplex, which has profound implications for disease mechanism in ALS and FTD. 23264878 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 GeneticVariation disease BEFREE Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. 22366791 2012
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.500 GeneticVariation disease BEFREE We report the clinical, neuropsychologic, and neuroimaging findings of a family with the C9ORF72 mutation and clinical diagnoses bridging the FTD, parkinsonism, and ALS spectrum. 22637471 2012