Human disease mutation database

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August undefined, 2024

http://www.informatics.jax.org/ WebHGMD®: Human Gene Mutation Database 3 “HGMD professional provides the most compre-hensive database of human disease associations and is an invaluable …

DisGeNET - a database of gene-disease associations

Web28 Jun 2024 · The Human Gene Mutation Database (HGMD ®) available via http://www.hgmd.org represents an attempt to systematically collate all known gene … WebThe Human Metabolome Database (HMDB) is a freely available electronic database containing detailed information about small molecule metabolites found in the human body. It is intended to be used for applications in metabolomics, clinical chemistry, biomarker discovery and general education. tarte set sail lipstick

NM_002294.3(LAMP2):c.*205C>T AND Danon disease - ClinVar

Web12 Apr 2024 · Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely … WebThe Human Gene Mutation Database (HGMD®) represents an attempt to collate known (published) gene lesions responsible for human inherited diseases.It is a repository of … WebDisGeNET - a database of gene-disease associations Original Data Sources The DisGeNET database integrates information of human gene-disease associations … clog\\u0027s x

Human variation databases - PMC - National Center for …

Human Gene Mutation Database (HGMD) Professional

WebThe Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited … WebThe p53 mutation database contains information on all missense mutations and small deletions reported in human p53 reported in peer-reviewed literature. It does not contain … clog\\u0027s wvWebMutations in EMD are very rare, with an estimated incidence of 0.13/100,000. 13 To date, approximately 150 different EMD mutations have been reported. 10 In our study, we identified a duplication mutation (c.405dup/p.Asp136X) of EMD which is a novel variant that has not yet been reported in HMGD cases, Clinvar or Pubmed. clog\\u0027s xj

"Web14 Mar 2024 · It consists of three data sets and five functions: (i) visualization of mutation distribution in sequence, domain and epitope; (ii) association analysis between mutation … " - Human disease mutation database

Human disease mutation database

General mutation databases: analysis and review Journal of …

Web170,000+ mutation reports including specifics on genome coordinates, sequence details, and links to the source reference as well as public resources like dbSNP and OMIM. … Web27 Mar 2024 · The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that …

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Web1 Jun 2024 · The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely … Web1 Mar 2024 · Keio Mutation Databases using Mutation View Eye disease genes Heart disease genes Ear ...

WebHuman DNA polymerase is composed of two subunits, a 140 kDa catalytic subunit encoded by the POLG on chromosome 15q25, and a 55kDa accessory subunit encoded by the … http://www.pompevariantdatabase.nl/pompe_mutations_list.php?orderby=aMut_ID1

Web12 Jan 2024 · NM_002294.3 (LAMP2):c.*205C>T Gene: LAMP2:lysosomal associated membrane protein 2 [ Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: Xq24 Genomic location: ChrX: 120431118 (on Assembly GRCh38) ChrX: 119564973 (on Assembly GRCh37) Preferred name: NM_002294.3 … WebThe Human Metabolome Database (HMDB) is a freely available electronic database containing detailed information about small molecule metabolites found in the human …

Web4 Oct 2024 · The Human Diseases category of the KEGG PATHWAY database is a collection of disease pathway maps. It contains multifactorial diseases such as cancers, …

Web7 Jan 2024 · To address these challenges, we built a pilot database of human disease-related Virus Mutations, Integration sites and Cis-effects (ViMIC), which specializes in three features: virus mutation sites, viral integration sites and target genes. tarte salesWeb1 Jan 2001 · The Human Gene Mutation Database (HGMD) represents a comprehensive core collection of data on published germline mutations in nuclear genes underlying … tarte sunkissed lipstickWeb4 Oct 2024 · The database includes only single gene alterations (it does not include contiguous gene syndromes, although some conditions with, for example, digenic … clog\\u0027s x8Web7 Dec 2024 · Description. This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism … clog\\u0027s xshttp://www.hgmd.cf.ac.uk/docs/new_back.html clog\\u0027s xgWeb3 May 2024 · The objective was to create broad database, which will help uncover common DNA differences among people who influence traits, functions, 87 or raise the disease … tarte soleil au jambonWeb28 May 2024 · For disease-associated mutations, the disease symbol and disease ID in the OMIM database 32, 33 are displayed in the last column of the table. Conclusion. A … clog\\u0027s xm