examples :  SOD1  /  chr12-64875767-64875767  /   21q22.11  / 
specific gene : C9ORF72 / 

Note: Gene4MND and its resources are freely available for academic usage. For some of the resources, licenses are required for non-academic usage, please contact the original content provider for that purpose. View Disclaimer

Motivation and knowledge of Gene4MND


Motor neuron disease (MND) refers to several types of neurodegenerative disorders characterized by affecting upper and lower motor neurons, rapidly progressive weakness leading to paralysis and eventually death from respiratory failure. MND includes amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS), progressive muscular atrophy (PMA) and progressive bulbar palsy (PBP). Some patients may coexist with the symptoms of frontotemporal dementia (FTD). Currently, the diagnosis of MND is challenging and the pathogenesis remains unclear. It is urgent for researchers to have a comprehensive understanding of the biological and genetic mechanism as the basis for the diagnosis and intervention of this disease. With the applications of next-generation sequencing technologies, a growing number of genetic insights underlying MND has been revealed. However, there is a major challenge in how to accurately search and analyze these mounting genetic findings of MND for efficiently extracting meaningful biological, genetic and medical knowledge.

By systematic review and curation of multiple lines of public studies, we integrated almost all genetic variants and genes related to MND into one-stop database and analytic platform called Gene4MND including the following knowledge: (1) rare variants related to MND, (2) copy-number variants (CNVs) detected in MND patients, (3) risk loci identified from GWAS associated with MND, (4) differential expression genes, and (5) differential DNA methylation genes. Gene4MND prioritized a number of scored candidate gene of MND based on these different category genetic data.

In addition, by integrated more than 60 genomic data sources, Gene4MND included comprehensive variant-level and gene-level annotation data, including (1) functional effects of variants (nonsense, non-synonymous, and frameshift etc.), (2) disease- and phenotype-related information for variant- and gene-level implications, (3) functional consequences of variants through 23 in silico predictive algorithms, (4) allele frequency in different populations of public databases, (5) meaningful gene-level information, such as protein sequences, protein–protein interaction, gene expression patterns in human brain, and gene functions etc.

Furthermore, Gene4MND provided conveniently interface for users to upload their variants (VCF4 format), identify co-segregated variants, perform comprehensive annotations, and prioritize pathogenic mutations of known MND risk-genes and possible novo MND candidate genes. In summary, Gene4MND is an integrative genetic database and useful analytic platform for MND.




Recent Updates

[29/6/2018] We have fixed some bugs and imported all collected data into database.

[10/6/2018] The 'Browse' page is created and we have added gene raking function.

[19/5/2018] We have added gene analysis function.

[10/4/2018] Annotation of all rare variants were finished and the gene information of MND can be searched.

[20/3/2018] The frontend and backend of Gene4MND were finished.

[5/1/2018] Copy number variations (CNVs) reported in science literature are collected.

[2/12/2017] We collected genes that were differentially expressed between MND patients and controls reported in science literature.

[10/11/2017] Genes that were differentially methylated between MND patients and controls reported in science literature are collected.

[20/9/2017] We collected the common variants and genes reported in genome-wide association studies.

[15/6/2017] We collected rare variants identified from MND patients in science literature.