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Volumn 2015, Issue , 2015, Pages

DisGeNET: A discovery platform for the dynamical exploration of human diseases and their genes

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL; CLOUD COMPUTING; COMPUTER INTERFACE; DISEASE MODEL; GENE REGULATORY NETWORK; GENETIC DATABASE; GENETIC DISORDER; GENETICS; HUMAN; HUMAN GENOME; INTERNET;

EID: 84939221315     PISSN: 17580463     EISSN: None     Source Type: Journal    
DOI: 10.1093/database/bav028     Document Type: Article
Times cited : (813)

References (49)
  • 1
    • 84872033797 scopus 로고    scopus 로고
    • Introduction to translational bioinformatics collection
    • Altman, R.B. (2012) Introduction to Translational Bioinformatics Collection. PLoS Comput. Biol., 8, e1002796.
    • (2012) PLoS Comput. Biol , vol.8 , pp. e1002796
    • Altman, R.B.1
  • 2
    • 79959643100 scopus 로고    scopus 로고
    • Translational bioinformatics: Linking knowledge across biological and clinical realms
    • Sarkar, I.N., Butte, A.J., Lussier, Y.A. et al. (2011) Translational bioinformatics: Linking knowledge across biological and clinical realms. J. Am. Med. Inform. Assoc., 18, 354-357.
    • (2011) J. Am. Med. Inform. Assoc , vol.18 , pp. 354-357
    • Sarkar, I.N.1    Butte, A.J.2    Lussier, Y.A.3
  • 3
    • 84897136781 scopus 로고    scopus 로고
    • Individualized medicine from Prewomb to Tomb
    • Topol, E.J. (2014) Individualized medicine from Prewomb to Tomb. Cell, 157, 241-253.
    • (2014) Cell , vol.157 , pp. 241-253
    • Topol, E.J.1
  • 5
    • 84888205095 scopus 로고    scopus 로고
    • An innovative portal for rare genetic diseases research: The semantic Diseasecard
    • Lopes, P. and Oliveira, J.L. (2013) An innovative portal for rare genetic diseases research: The semantic Diseasecard. J. Biomed. Inform., 46, 1108-1115.
    • (2013) J. Biomed. Inform , vol.46 , pp. 1108-1115
    • Lopes, P.1    Oliveira, J.L.2
  • 6
    • 58149189856 scopus 로고    scopus 로고
    • McKusick's online mendelian inheritance in man (OMIM)
    • Amberger, J., Bocchini, C.A., Scott, A.F. et al. (2009) McKusick's online mendelian inheritance in man (OMIM). Nucleic Acids Res., 37, D793-D796.
    • (2009) Nucleic Acids Res , vol.37 , pp. D793-D796
    • Amberger, J.1    Bocchini, C.A.2    Scott, A.F.3
  • 7
    • 84876467333 scopus 로고    scopus 로고
    • The comparative toxicogenomics database: Update 2013
    • Davis, A.P., Murphy, C.G., Johnson, R. et al. (2013) The comparative toxicogenomics database: Update 2013. Nucleic Acids Res., 41, D1104-D1114.
    • (2013) Nucleic Acids Res , vol.41 , pp. D1104-D1114
    • Davis, A.P.1    Murphy, C.G.2    Johnson, R.3
  • 8
    • 2442604715 scopus 로고    scopus 로고
    • The genetic association database
    • Becker, K.G., Barnes, K.C., Bright, T.J. et al. (2004) The genetic association database. Nat. Genet., 36, 431-432.
    • (2004) Nat. Genet , vol.36 , pp. 431-432
    • Becker, K.G.1    Barnes, K.C.2    Bright, T.J.3
  • 9
    • 34748848639 scopus 로고    scopus 로고
    • The NCBI dbGaP database of genotypes and phenotypes
    • Mailman, M.D., Feolo, M., Jin, Y. et al. (2007) The NCBI dbGaP database of genotypes and phenotypes. Nat. Genet., 39, 1181-1186.
    • (2007) Nat. Genet , vol.39 , pp. 1181-1186
    • Mailman, M.D.1    Feolo, M.2    Jin, Y.3
  • 10
    • 84891750628 scopus 로고    scopus 로고
    • NCBI's database of genotypes and phenotypes: DbGaP
    • Tryka, K.A., Hao, L., Sturcke, A. et al. (2014) NCBI's database of genotypes and phenotypes: DbGaP. Nucleic Acids Res., 42, D975-D979.
    • (2014) Nucleic Acids Res , vol.42 , pp. D975-D979
    • Tryka, K.A.1    Hao, L.2    Sturcke, A.3
  • 11
    • 84891790401 scopus 로고    scopus 로고
    • The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
    • Welter, D., MacArthur, J., Morales, J. et al. (2014) The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res., 42, D1001-D1006.
    • (2014) Nucleic Acids Res , vol.42 , pp. D1001-D1006
    • Welter, D.1    MacArthur, J.2    Morales, J.3
  • 12
    • 78149236787 scopus 로고    scopus 로고
    • DisGeNET: A Cytoscape plugin to visualize, integrate, search and analyze gene-disease networks
    • Bauer-Mehren, A., Rautschka, M., Sanz, F. et al. (2010) DisGeNET: A Cytoscape plugin to visualize, integrate, search and analyze gene-disease networks. Bioinformatics, 26, 2924-2926.
    • (2010) Bioinformatics , vol.26 , pp. 2924-2926
    • Bauer-Mehren, A.1    Rautschka, M.2    Sanz, F.3
  • 13
    • 79958795334 scopus 로고    scopus 로고
    • Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseases
    • Bauer-Mehren, A., Bundschus, M., Rautschka, M. et al. (2011) Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseases. PLoSOne, 6, e20284.
    • (2011) PLoSOne , vol.6 , pp. e20284
    • Bauer-Mehren, A.1    Bundschus, M.2    Rautschka, M.3
  • 14
    • 84931264092 scopus 로고    scopus 로고
    • Extraction of relations between genes and diseases from text and large-scale data analysis: Implications for translational research. Cold Spring Harbor Labs Journals, 007443
    • Bravo, A., Pinero, J., Queralt, N. et al. (2015) Extraction of Relations Between Genes and Diseases From Text and Large-Scale Data Analysis: Implications for Translational Research. Cold Spring Harbor Labs Journals, 007443. BMC Bioinformatics, 16:55. doi: 10.1186/s12859-015-0472-9
    • (2015) BMC Bioinformatics , vol.16 , pp. 55
    • Bravo, A.1    Pinero, J.2    Queralt, N.3
  • 15
    • 84869500366 scopus 로고    scopus 로고
    • Semantic web meets integrative biology: A survey
    • Chen, H., Yu, T., and Chen, J.Y. (2013) Semantic Web meets Integrative Biology: A survey. Brief. Bioinform., 14, 109-125.
    • (2013) Brief. Bioinform , vol.14 , pp. 109-125
    • Chen, H.1    Yu, T.2    Chen, J.Y.3
  • 16
    • 84943193896 scopus 로고    scopus 로고
    • ICT for Bridging biology and medicine (Dagstuhl Perspectives Workshop 13342)
    • Almeida, J.S., Dress, A., Kühne, T. et al. (2014) ICT for Bridging biology and medicine (Dagstuhl Perspectives Workshop 13342). Dagstuhl Manifestos, 3, 50.
    • (2014) Dagstuhl Manifestos , vol.3 , pp. 50
    • Almeida, J.S.1    Dress, A.2    Kühne, T.3
  • 17
    • 84891783174 scopus 로고    scopus 로고
    • Activities at the universal protein resource (UniProt)
    • The UniProt Consortium. (2014) Activities at the universal protein resource (UniProt). Nucleic Acids Res., 42, D191-D198.
    • (2014) Nucleic Acids Res , vol.42 , pp. D191-D198
  • 18
    • 84888772878 scopus 로고    scopus 로고
    • The Rat Genome Database 2013-data, tools and users
    • Laulederkind, S.J.F., Hayman, G.T., Wang, S.-J. et al. (2013) The Rat Genome Database 2013-data, tools and users. Brief. Bioinform., 14, 520-526.
    • (2013) Brief. Bioinform , vol.14 , pp. 520-526
    • Laulederkind, S.J.F.1    Hayman, G.T.2    Wang, S.-J.3
  • 19
    • 84891788593 scopus 로고    scopus 로고
    • The Mouse Genome Database: Integration of and access to knowledge about the laboratory mouse
    • Blake, J.A., Bult, C.J., Eppig, J.T. et al. (2014) The Mouse Genome Database: Integration of and access to knowledge about the laboratory mouse. Nucleic Acids Res., 42, D810-D817.
    • (2014) Nucleic Acids Res , vol.42 , pp. D810-D817
    • Blake, J.A.1    Bult, C.J.2    Eppig, J.T.3
  • 20
    • 13444286777 scopus 로고    scopus 로고
    • Gene indexing: Characterization and analysis of NLM's GeneRIFs
    • Mitchell, J.A., Aronson, A.R., Mork, J.G. et al. (2003) Gene indexing: Characterization and analysis of NLM's GeneRIFs. AMIA Annu. Symp. Proc., 460-464.
    • (2003) AMIA Annu. Symp. Proc. , pp. 460-464
    • Mitchell, J.A.1    Aronson, A.R.2    Mork, J.G.3
  • 21
    • 43749110484 scopus 로고    scopus 로고
    • Extraction of semantic biomedical relations from text using conditional random fields
    • Bundschus, M., Dejori, M., Stetter, M. et al. (2008) Extraction of semantic biomedical relations from text using conditional random fields. BMC Bioinformatics, 9, 207.
    • (2008) BMC Bioinformatics , vol.9 , pp. 207
    • Bundschus, M.1    Dejori, M.2    Stetter, M.3
  • 22
    • 75549084894 scopus 로고    scopus 로고
    • PANTHER version 7: Improved phylogenetic trees, orthologs and collaboration with the Gene Ontology Consortium
    • Mi, H., Dong, Q., Muruganujan, A. et al. (2010) PANTHER version 7: Improved phylogenetic trees, orthologs and collaboration with the Gene Ontology Consortium. Nucleic Acids Res., 38, D204-D210.
    • (2010) Nucleic Acids Res , vol.38 , pp. D204-D210
    • Mi, H.1    Dong, Q.2    Muruganujan, A.3
  • 23
    • 0037249501 scopus 로고    scopus 로고
    • PANTHER: A browsable database of gene products organized by biological function, using curated protein family and subfamily classification
    • Thomas, P.D. (2003) PANTHER: A browsable database of gene products organized by biological function, using curated protein family and subfamily classification. Nucleic Acids Res., 31, 334-341.
    • (2003) Nucleic Acids Res , vol.31 , pp. 334-341
    • Thomas, P.D.1
  • 24
    • 84891753483 scopus 로고    scopus 로고
    • The Reactome pathway knowledgebase
    • Croft, D., Mundo, A.F., Haw, R. et al. (2014) The Reactome pathway knowledgebase. Nucleic Acids Res., 42, D472-D477.
    • (2014) Nucleic Acids Res , vol.42 , pp. D472-D477
    • Croft, D.1    Mundo, A.F.2    Haw, R.3
  • 25
    • 84911444179 scopus 로고    scopus 로고
    • Multiple evidence strands suggest that there may be as few as 19 000 human protein-coding genes
    • Ezkurdia, I., Juan, D., Rodriguez, J.M. et al. (2014) Multiple evidence strands suggest that there may be as few as 19 000 human protein-coding genes. Hum. Mol. Genet., 23, 5866-5878.
    • (2014) Hum. Mol. Genet , vol.23 , pp. 5866-5878
    • Ezkurdia, I.1    Juan, D.2    Rodriguez, J.M.3
  • 26
    • 84859699832 scopus 로고    scopus 로고
    • Disease ontology: A backbone for disease semantic integration
    • Schriml, L.M., Arze, C., Nadendla, S. et al. (2012) Disease ontology: A backbone for disease semantic integration. Nucleic Acids Res., 40, D940-D946.
    • (2012) Nucleic Acids Res , vol.40 , pp. D940-D946
    • Schriml, L.M.1    Arze, C.2    Nadendla, S.3
  • 27
    • 84891749517 scopus 로고    scopus 로고
    • The human phenotype ontology project: Linking molecular biology and disease through phenotype data
    • Köhler, S., Doelken, S.C., Mungall, C.J. et al. (2014) The human phenotype ontology project: Linking molecular biology and disease through phenotype data. Nucleic Acids Res., 42, D966-D974.
    • (2014) Nucleic Acids Res , vol.42 , pp. D966-D974
    • Köhler, S.1    Doelken, S.C.2    Mungall, C.J.3
  • 28
    • 84963072124 scopus 로고
    • Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver
    • Wilson, S.A.K. (1912) Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver. Brain, 34, 295-507.
    • (1912) Brain , vol.34 , pp. 295-507
    • Wilson, S.A.K.1
  • 29
    • 0027364961 scopus 로고
    • The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
    • Tanzi, R.E., Petrukhin, K., Chernov, I. et al. (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat. Genet., 5, 344-350.
    • (1993) Nat. Genet , vol.5 , pp. 344-350
    • Tanzi, R.E.1    Petrukhin, K.2    Chernov, I.3
  • 30
    • 0032806774 scopus 로고    scopus 로고
    • The Long-Evans Cinnamon rat: An animal model for Wilson's disease
    • Terada, K. and Sugiyama, T. (1999) The Long-Evans Cinnamon rat: An animal model for Wilson's disease. Pediatr. Int., 41, 414-418.
    • (1999) Pediatr. Int , vol.41 , pp. 414-418
    • Terada, K.1    Sugiyama, T.2
  • 31
    • 59149094700 scopus 로고    scopus 로고
    • Atp7b-/- mice as a model for studies of Wilson's disease
    • Lutsenko, S. (2008) Atp7b-/- mice as a model for studies of Wilson's disease. Biochem. Soc. Trans., 36, 1233-1238.
    • (2008) Biochem. Soc. Trans , vol.36 , pp. 1233-1238
    • Lutsenko, S.1
  • 32
    • 84907400402 scopus 로고    scopus 로고
    • Network medicine analysis of COPD multimorbidities
    • Grosdidier, S., Ferrer, A., Faner, R. et al. (2014) Network medicine analysis of COPD multimorbidities. Respir. Res., 15, 111.
    • (2014) Respir. Res , vol.15 , pp. 111
    • Grosdidier, S.1    Ferrer, A.2    Faner, R.3
  • 33
    • 84908353448 scopus 로고    scopus 로고
    • Applying linked data approaches to pharmacology: Architectural decisions and implementation
    • Gray, A.J.G., Groth, P., Loizou, A. et al. (2014) Applying linked data approaches to pharmacology: Architectural decisions and implementation. Semant.Web, 5, 101-113.
    • (2014) Semant.Web , vol.5 , pp. 101-113
    • Gray, A.J.G.1    Groth, P.2    Loizou, A.3
  • 34
    • 0036183630 scopus 로고    scopus 로고
    • The mechanisms of action of PPARs
    • Berger, J. and Moller, D. E. (2002) The mechanisms of action of PPARs. Annu. Rev. Med., 53, 409-435.
    • (2002) Annu. Rev. Med , vol.53 , pp. 409-435
    • Berger, J.1    Moller, D.E.2
  • 35
    • 44649133311 scopus 로고    scopus 로고
    • The genetic susceptibility to type 2 diabetes may be modulated by obesity status: Implications for association studies
    • Cauchi, S., Nead, K.T., Choquet, H. et al. (2008) The genetic susceptibility to type 2 diabetes may be modulated by obesity status: Implications for association studies. BMC Med. Genet., 9, 45.
    • (2008) BMC Med. Genet , vol.9 , pp. 45
    • Cauchi, S.1    Nead, K.T.2    Choquet, H.3
  • 36
    • 70349783791 scopus 로고    scopus 로고
    • Gender-specific effect of Pro12Ala polymorphism in peroxisome proliferator-activated receptor gamma-2 gene on obesity risk and leptin levels in a Tunisian population
    • Ben Ali, S., Ben Yahia, F., Sediri, Y. et al. (2009) Gender-specific effect of Pro12Ala polymorphism in peroxisome proliferator-activated receptor gamma-2 gene on obesity risk and leptin levels in a Tunisian population. Clin. Biochem., 42, 1642-1647.
    • (2009) Clin. Biochem , vol.42 , pp. 1642-1647
    • Ben Ali, S.1    Ben Yahia, F.2    Sediri, Y.3
  • 37
    • 70350437856 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms in obesity-related genes and all-cause and cause-specific mortality: A prospective cohort study
    • Gallicchio, L., Chang, H.H., Christo, D.K. et al. (2009) Single nucleotide polymorphisms in obesity-related genes and all-cause and cause-specific mortality: A prospective cohort study. BMC Med. Genet., 10, 103.
    • (2009) BMC Med. Genet , vol.10 , pp. 103
    • Gallicchio, L.1    Chang, H.H.2    Christo, D.K.3
  • 38
    • 84862126638 scopus 로고    scopus 로고
    • Association of PPARc gene polymorphisms with obesity and obesity-associated phenotypes in North Indian population
    • Prakash, J., Srivastava, N., Awasthi, S. et al. Association of PPARc gene polymorphisms with obesity and obesity-associated phenotypes in North Indian population. Am. J. Hum. Biol., 24, 454-459.
    • Am. J. Hum. Biol , vol.24 , pp. 454-459
    • Prakash, J.1    Srivastava, N.2    Awasthi, S.3
  • 39
    • 33144478823 scopus 로고    scopus 로고
    • Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)
    • Francis, G.A., Li, G., Casey, R. et al. (2006) Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3). BMC Med. Genet., 7, 3.
    • (2006) BMC Med. Genet , vol.7 , pp. 3
    • Francis, G.A.1    Li, G.2    Casey, R.3
  • 40
    • 34250831418 scopus 로고    scopus 로고
    • Impaired peroxisome proliferator-activated receptor gamma function through mutation of a conserved salt bridge (R425C) in familial partial lipodystrophy
    • Jeninga, E.H., van Beekum, O., van Dijk, A.D.J. et al. (2007) Impaired peroxisome proliferator-activated receptor gamma function through mutation of a conserved salt bridge (R425C) in familial partial lipodystrophy. Mol. Endocrinol., 21, 1049-1065.
    • (2007) Mol. Endocrinol , vol.21 , pp. 1049-1065
    • Jeninga, E.H.1    Van Beekum, O.2    Van Dijk, A.D.J.3
  • 41
    • 33644669582 scopus 로고    scopus 로고
    • Sequence variation in PPARG may underlie differential response to troglitazone
    • Wolford, J.K., Yeatts, K.A., Dhanjal, S.K. et al. (2005) Sequence variation in PPARG may underlie differential response to troglitazone. Diabetes, 54, 3319-3325.
    • (2005) Diabetes , vol.54 , pp. 3319-3325
    • Wolford, J.K.1    Yeatts, K.A.2    Dhanjal, S.K.3
  • 42
    • 12944308811 scopus 로고    scopus 로고
    • Common polymorphisms of the PPAR-gamma2 (Pro12Ala) and PGC-1alpha (Gly482Ser) genes are associated with the conversion from impaired glucose tolerance to type 2 diabetes in the STOP-NIDDM trial
    • Andrulionytè, L., Zacharova, J., Chiasson, J.-L. et al. (2004) Common polymorphisms of the PPAR-gamma2 (Pro12Ala) and PGC-1alpha (Gly482Ser) genes are associated with the conversion from impaired glucose tolerance to type 2 diabetes in the STOP-NIDDM trial. Diabetologia, 47, 2176-2184.
    • (2004) Diabetologia , vol.47 , pp. 2176-2184
    • Andrulionytè, L.1    Zacharova, J.2    Chiasson, J.-L.3
  • 43
    • 79955586140 scopus 로고    scopus 로고
    • Dual acting and pan-PPAR activators as potential anti-diabetic therapies
    • Heald, M. and Cawthorne, M.A. (2011) Dual acting and pan-PPAR activators as potential anti-diabetic therapies. Handb. Exp. Pharmacol., 35-51.
    • (2011) Handb. Exp. Pharmacol. , pp. 35-51
    • Heald, M.1    Cawthorne, M.A.2
  • 44
    • 84900334705 scopus 로고    scopus 로고
    • A knowledge-driven approach to extract disease-related biomarkers from the literature
    • Bravo, A., Cases, M., Queralt-Rosinach, N. et al. (2014) A knowledge-driven approach to extract disease-related biomarkers from the literature. Biomed Res. Int., 2014, 253128.
    • (2014) Biomed Res. Int , vol.2014 , pp. 253128
    • Bravo, A.1    Cases, M.2    Queralt-Rosinach, N.3
  • 45
    • 84865957320 scopus 로고    scopus 로고
    • The EU-ADR corpus: Annotated drugs, diseases, targets, and their relationships
    • Van Mulligen, E.M., Fourrier-Reglat, A., Gurwitz, D. et al. (2012) The EU-ADR corpus: Annotated drugs, diseases, targets, and their relationships. J. Biomed. Inform., 45, 879-884.
    • (2012) J. Biomed. Inform , vol.45 , pp. 879-884
    • Van Mulligen, E.M.1    Fourrier-Reglat, A.2    Gurwitz, D.3
  • 47
    • 84921861095 scopus 로고    scopus 로고
    • The Semanticscience Integrated Ontology (SIO) for biomedical research and knowledge discovery
    • Dumontier, M., Baker, C.J., Baran, J. et al. (2014) The Semanticscience Integrated Ontology (SIO) for biomedical research and knowledge discovery. J. Biomed. Semantics, 5, 14.
    • (2014) J. Biomed. Semantics , vol.5 , pp. 14
    • Dumontier, M.1    Baker, C.J.2    Baran, J.3
  • 48
    • 48249158190 scopus 로고    scopus 로고
    • Bio2RDF: Towards a mashup to build bioinformatics knowledge systems
    • Belleau, F., Nolin, M.-A., Tourigny, N. et al. (2008) Bio2RDF: Towards a mashup to build bioinformatics knowledge systems. J. Biomed. Inform., 41, 706-716.
    • (2008) J. Biomed. Inform , vol.41 , pp. 706-716
    • Belleau, F.1    Nolin, M.-A.2    Tourigny, N.3


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