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NetDiseaseSNP specifications


Unique identifier OMICS_13216
Name NetDiseaseSNP
Interface Web user interface
Restrictions to use None
Input data Protein sequences
Input format FASTA
Output data Accession specified in the FASTA sequence file and variant file; Amino acid number for the variant position in the sequence; Variant: 'native amino acid'->'variant amino acid'; NetDiseaseSNP score: 0 to 1 (score>=0.5:DISEASE; score<0.5:NEUTRAL); NetDiseaseSNP predicted category for the variant: DISEASE/NEUTRAL
Computer skills Basic
Version 1.0
Stability Beta
Maintained Yes



  • person_outline Ramneek Gupta

Publication for NetDiseaseSNP

NetDiseaseSNP citations


S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse

Sci Rep
PMCID: 4935955
PMID: 27383011
DOI: 10.1038/srep28964

[…] be neutral, so we considered this to be an unlikely candidate. the remaining snv (a g > c transition in s1pr2; ), resulted in a threonine to arginine change (t289r), which was predicted by both netdiseasesnp and phd-snp to be deleterious. the affected threonine residue is highly conserved (), located in a transmembrane domain, and was predicted by consurf  to be structural (). genotyping […]


Unraveling the Deleterious Effects of Cancer Driven STK11 Mutants Through Conformational Sampling Approach

Cancer Inform
PMCID: 4821432
PMID: 27081308
DOI: 10.4137/CIN.S38044

[…] and limited-memory broyden-fletcher-goldfarb-shanno methods. it creates a gromacs topology using the gromos96 vacuum force field., for the prediction of disease-causing mutations, we used the tool netdiseasesnp, a sequence conservation-based predictor of the pathogenicity of mutations, which exploits the predictive power of artificial neural networks. this method derives sequence conservation […]


Gene Specific Function Prediction for Non Synonymous Mutations in Monogenic Diabetes Genes

PLoS One
PMCID: 4138110
PMID: 25136813
DOI: 10.1371/journal.pone.0104452

[…] the above methods warrant that new methods are being developed continuously. for example, johansen et al. recently developed a sequence conservation-based artificial neural network predictor called netdiseasesnp . capriotti et al. developed a meta-snp algorithm for the detection of disease-associated nssnvs, which integrates four different methods: panther, phd-snp, sift and snap. they showed […]


Computational and Experimental Approaches to Reveal the Effects of Single Nucleotide Polymorphisms with Respect to Disease Diagnostics

Int J Mol Sci
PMCID: 4100115
PMID: 24886813
DOI: 10.3390/ijms15069670

[…] mutation. other tools based on similar approaches include mutation taster [], ls–snp/pdb [], snpeffect [], predicting protein mutant stability change (mustab) [,], mupro [], mutpred [], snpdbe [], netdiseasesnp [], hope [] and snps3d []., in addition to, or in combination with evolutionary and sequence-based methods, several machine learning approaches such as neural networks, decision trees […]

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NetDiseaseSNP institution(s)
Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark, Kongens Lyngby, Denmark; Novo Nordisk Foundation Center for Biosustainability, Technical University of Denmark, Hørsholm, Denmark; Novo Nordisk Foundation Center for Protein Research, University of Copenhagen, Copenhagen, Denmark
NetDiseaseSNP funding source(s)
This work was funded by the Novo Nordisk Foundation and the European Union (grant No. 259348).

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