UMD

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UMD

metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:33.812796

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umd

metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:33.812796

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Other names: umd

Universal Mutation Database (UMD) is a database for mutations. UMD-predictor is a tool that enables functional annotation of variants to find the relevant ones.

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Publications

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UMD (Universal mutation database): a generic software to build and analyze locus-specific databases
PMID: 10612827

metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:33.812796

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UMD (Universal Mutation Database): 2005 update
PMID: 16086365

metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:33.812796

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• UMD (Universal mutation database): a generic software to build and analyze locus-specific databases PubMed citations: 53.

  53 articles citing: UMD (Universal mutation database): a generic software to build and analyze locus-specific databases

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  Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes. PMID:34749799

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  Germline and Somatic mutations in postmenopausal breast cancer patients. PMID:34287479

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  Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma. PMID:34277001

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  Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population. PMID:34172528

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  Knowledge bases and software support for variant interpretation in precision oncology. PMID:33971666

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  The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD. PMID:33672764

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  Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement. PMID:33059708

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  MAGPEL: an autoMated pipeline for inferring vAriant-driven Gene PanEls from the full-length biomedical literature. PMID:32703994

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  Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing. PMID:31285513

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  CRISPR/Cas9-generated mouse model of Duchenne muscular dystrophy recapitulating a newly identified large 430 kb deletion in the human DMD gene. PMID:31028078

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  Systematics for types and effects of DNA variations. PMID:30591019

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  Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes. PMID:29887214

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  Hereditary breast and ovarian cancer in Andalusian families: a genetic population study. PMID:29884136

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  Lamins and bone disorders: current understanding and perspectives. PMID:29854317

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  Somatic mutations in early onset luminal breast cancer. PMID:29854292

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  A mechanistic evaluation of the Syrian hamster embryo cell transformation assay (pH 6.7) and molecular events leading to senescence bypass in SHE cells. PMID:27169376

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  Human Variome Project Quality Assessment Criteria for Variation Databases. PMID:26919176

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  Harmonizing the interpretation of genetic variants across the world: the Malaysian experience. PMID:26915360

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  Human genotype-phenotype databases: aims, challenges and opportunities. PMID:26553330

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  Building the foundation for genomics in precision medicine. PMID:26469044

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  Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis. PMID:26333736

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  Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PMID:26332594

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  Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families. PMID:25952756

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  Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. PMID:25782689

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  Biological databases for human research. PMID:25712261

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  Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations. PMID:25348012

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  Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein. PMID:25077178

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  Inter-ethnic differences in genetic polymorphisms of xenobiotic-metabolizing enzymes (CYP1A1, CYP2D6, NAT1 and NAT2) in healthy populations: correlation with the functional in silico prediction. PMID:24934312

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  Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. PMID:24833718

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  Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. PMID:24501682

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  Clinical utility of anti-p53 auto-antibody: systematic review and focus on colorectal cancer. PMID:23922463

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  UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families. PMID:23729658

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  Proteostasis modulators prolong missense VHL protein activity and halt tumor progression. PMID:23318261

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  Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma. PMID:23298237

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  Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis. PMID:22849591

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  Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. PMID:22396310

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  Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. PMID:22144684

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  Hypoxia and cell cycle regulation of the von Hippel-Lindau tumor suppressor. PMID:20802534

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  Human variation databases. PMID:20639550

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  Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma. PMID:20560986

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  Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype. PMID:20375333

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  Von hippel-lindau disease. PMID:20223044

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  COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System. PMID:19958500

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  Human Splicing Finder: an online bioinformatics tool to predict splicing signals. PMID:19339519

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  Planning the human variome project: the Spain report. PMID:19306394

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  Recommendations for locus-specific databases and their curation. PMID:18157828

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  The molecular genetics of Marfan syndrome and related disorders. PMID:16571647

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  Prevalence of von Hippel-Lindau gene mutations in sporadic renal cell carcinoma: results from The Netherlands cohort study. PMID:15932632

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  Ligation of high-melting-temperature 'clamp' sequence extends the scanning range of rare point-mutational analysis by constant denaturant capillary electrophoresis (CDCE) to most of the human genome. PMID:12907749

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  Marfan syndrome in the third Millennium. PMID:12404097

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  Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. PMID:12068374

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  Multi-exon deletions of the FBN1 gene in Marfan syndrome. PMID:11710961

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  Determining the identifiability of DNA database entries. PMID:11079941
• UMD (Universal Mutation Database): 2005 update PubMed citations: 32.

  32 articles citing: UMD (Universal Mutation Database): 2005 update

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  Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy. PMID:32244403

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  Severe aortic root dilatation in infantile Marfan syndrome. PMID:31656420

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  Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers. PMID:29641532

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  eGARD: Extracting associations between genomic anomalies and drug responses from text. PMID:29261751

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  The current state of clinical interpretation of sequence variants. PMID:28157586

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  Characterization of new-generation aminoglycoside promoting premature termination codon readthrough in cancer cells. PMID:28145797

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  Significance of 1B and 2B domains in modulating elastic properties of lamin A. PMID:27301336

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  DiMeX: A Text Mining System for Mutation-Disease Association Extraction. PMID:27073839

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  Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy. PMID:27009627

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  The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. PMID:25604253

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  Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein. PMID:25077178

  ---

  Inter-ethnic differences in genetic polymorphisms of xenobiotic-metabolizing enzymes (CYP1A1, CYP2D6, NAT1 and NAT2) in healthy populations: correlation with the functional in silico prediction. PMID:24934312

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  Dispelling myths about rare disease registry system development. PMID:24131574

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  Towards precision medicine: advances in computational approaches for the analysis of human variants. PMID:23962656

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  UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families. PMID:23729658

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  Function of alternative splicing. PMID:22909801

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  Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database. PMID:22776072

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  Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. PMID:22144684

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  A survey of APC mutations in Quebec. PMID:21779980

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  Locus Reference Genomic sequences: an improved basis for describing human DNA variants. PMID:20398331

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  Analysis of mismatch repair gene mutations in Turkish HNPCC patients. PMID:20373145

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  Improved mutation tagging with gene identifiers applied to membrane protein stability prediction. PMID:19758467

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  A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements. PMID:19436330

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  Human Splicing Finder: an online bioinformatics tool to predict splicing signals. PMID:19339519

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  Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. PMID:19293843

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  Genetic signature for human risk assessment: lessons from trichloroethylene. PMID:19031419

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  Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. PMID:19002209

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  VariVis: a visualisation toolkit for variation databases. PMID:18430251

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  Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. PMID:17701892

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  Large genomic rearrangements in the CFTR gene contribute to CBAVD. PMID:17448246

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  A multinodular goiter as the initial presentation of a renal cell carcinoma harbouring a novel VHL mutation. PMID:17067398

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  The molecular genetics of Marfan syndrome and related disorders. PMID:16571647

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Tags

More detailed information about this field from each metasource. ×

genetic variation

metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:33.812796

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genotype and phenotype

metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:33.812796

---

public health and epidemiology

metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:33.812796

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genomics

metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:33.812796

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rare diseases

metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:33.812796

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genetic variation genotype and phenotype public health and epidemiology genomics rare diseases