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Gene2Phenotype: A Database of Structured Human Monogenic Diseases and Pathomechanisms.

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Title: Gene2Phenotype: A Database of Structured Human Monogenic Diseases and Pathomechanisms.
Authors: Hunt SE; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, the United Kingdom of Great Britain and Northern Ireland. Electronic address: seh@ebi.ac.uk., Lemos D; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, the United Kingdom of Great Britain and Northern Ireland., Pericherla SR; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, the United Kingdom of Great Britain and Northern Ireland., Austine-Orimoloye O; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, the United Kingdom of Great Britain and Northern Ireland., Cibrian Uhalte E; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, the United Kingdom of Great Britain and Northern Ireland., Yates TM; Biomedical Informatics Group, Institute for Machine Learning, School of Informatics, The University of Edinburgh, 10 Crichton Street, Edinburgh EH8 9AB, Scotland, the United Kingdom of Great Britain and Northern Ireland; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, Queen, the United Kingdom of Great Britain and Northern Ireland., Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh, the United Kingdom of Great Britain and Northern Ireland., Thompson L; South East Scotland Genetic Service, Western General Hospital, Edinburgh, the United Kingdom of Great Britain and Northern Ireland., Foreman J; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, the United Kingdom of Great Britain and Northern Ireland., Simpson TI; Biomedical Informatics Group, Institute for Machine Learning, School of Informatics, The University of Edinburgh, 10 Crichton Street, Edinburgh EH8 9AB, Scotland, the United Kingdom of Great Britain and Northern Ireland., Ware JS; National Heart & Lung Institute, Imperial College London, London W12 0NN, the United Kingdom of Great Britain and Northern Ireland; MRC Laboratory of Medical Sciences, Imperial College London, London W12 0HS, the United Kingdom of Great Britain and Northern Ireland., Wright CF; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter EX1 2LU, the United Kingdom of Great Britain and Northern Ireland., Freeberg MA; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, the United Kingdom of Great Britain and Northern Ireland., Firth HV; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, the United Kingdom of Great Britain and Northern Ireland; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, the United Kingdom of Great Britain and Northern Ireland.
Source: Journal of molecular biology [J Mol Biol] 2026 Sep 15; Vol. 438 (18), pp. 169768. Date of Electronic Publication: 2026 Mar 26.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 2985088R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1089-8638 (Electronic) Linking ISSN: 00222836 NLM ISO Abbreviation: J Mol Biol Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Hunt+SE%22">Hunt SE</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, the United Kingdom of Great Britain and Northern Ireland. Electronic address: seh@ebi.ac.uk.<br /><searchLink fieldCode="AU" term="%22Lemos+D%22">Lemos D</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, the United Kingdom of Great Britain and Northern Ireland.<br /><searchLink fieldCode="AU" term="%22Pericherla+SR%22">Pericherla SR</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, the United Kingdom of Great Britain and Northern Ireland.<br /><searchLink fieldCode="AU" term="%22Austine-Orimoloye+O%22">Austine-Orimoloye O</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, the United Kingdom of Great Britain and Northern Ireland.<br /><searchLink fieldCode="AU" term="%22Cibrian+Uhalte+E%22">Cibrian Uhalte E</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, the United Kingdom of Great Britain and Northern Ireland.<br /><searchLink fieldCode="AU" term="%22Yates+TM%22">Yates TM</searchLink>; Biomedical Informatics Group, Institute for Machine Learning, School of Informatics, The University of Edinburgh, 10 Crichton Street, Edinburgh EH8 9AB, Scotland, the United Kingdom of Great Britain and Northern Ireland; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, Queen, the United Kingdom of Great Britain and Northern Ireland.<br /><searchLink fieldCode="AU" term="%22Ansari+M%22">Ansari M</searchLink>; South East Scotland Genetic Service, Western General Hospital, Edinburgh, the United Kingdom of Great Britain and Northern Ireland.<br /><searchLink fieldCode="AU" term="%22Thompson+L%22">Thompson L</searchLink>; South East Scotland Genetic Service, Western General Hospital, Edinburgh, the United Kingdom of Great Britain and Northern Ireland.<br /><searchLink fieldCode="AU" term="%22Foreman+J%22">Foreman J</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, the United Kingdom of Great Britain and Northern Ireland.<br /><searchLink fieldCode="AU" term="%22Simpson+TI%22">Simpson TI</searchLink>; Biomedical Informatics Group, Institute for Machine Learning, School of Informatics, The University of Edinburgh, 10 Crichton Street, Edinburgh EH8 9AB, Scotland, the United Kingdom of Great Britain and Northern Ireland.<br /><searchLink fieldCode="AU" term="%22Ware+JS%22">Ware JS</searchLink>; National Heart & Lung Institute, Imperial College London, London W12 0NN, the United Kingdom of Great Britain and Northern Ireland; MRC Laboratory of Medical Sciences, Imperial College London, London W12 0HS, the United Kingdom of Great Britain and Northern Ireland.<br /><searchLink fieldCode="AU" term="%22Wright+CF%22">Wright CF</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter EX1 2LU, the United Kingdom of Great Britain and Northern Ireland.<br /><searchLink fieldCode="AU" term="%22Freeberg+MA%22">Freeberg MA</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, the United Kingdom of Great Britain and Northern Ireland.<br /><searchLink fieldCode="AU" term="%22Firth+HV%22">Firth HV</searchLink>; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, the United Kingdom of Great Britain and Northern Ireland; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, the United Kingdom of Great Britain and Northern Ireland.
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