Ad
related to: omim database slideshare free
Search results
Results From The WOW.Com Content Network
This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information. Isolated 17,20-lyase deficiency; 202110; CYP17A1
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. As of 28 June 2019 [update] , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes ; the rest represented genes , many of which were ...
[1] [5] [6] The GeneCards database provides access to free Web resources about more than 350,000 known and predicted human genes, integrated from >150 data resources, such as HGNC, Ensembl, and NCBI. The core gene list is based on NCBI, Ensembl and approved gene symbols published by the HUGO Gene Nomenclature Committee (HGNC).
TDR Targets: a chemogenomics database focused on drug discovery in tropical diseases; TRANSFAC: a database about eukaryotic transcription factors, their genomic binding sites and DNA-binding profiles; JASPAR: a database of manually curated, non-redundant transcription factor binding profiles.
In genetics, a morbid map is a chart or diagram of diseases and the chromosomal location of genes the diseases are associated with. A morbid map exists as an appendix of the Online Mendelian Inheritance in Man (OMIM) knowledgebase, listing chromosomes and the genes mapped to specific sites on those chromosomes, and this format most clearly reveals the relationship between gene and phenotype.
Database. OMIM; HMSN1: Charcot–Marie–Tooth disease type 1A and 1B: 5815 (multiple) Hypertrophic demyelinating type: affected individuals experience weakness and atrophy in the lower legs in adolescence, and later develop weakness in the hands. This is the most common type of CMT. HMSN2: Charcot–Marie–Tooth disease type 2: 2343 (multiple)
PPARα - chromosome 22q12-13.1 (OMIM 170998) PPARβ/δ - chromosome 6p21.2-21.1 (OMIM 600409) PPARγ - chromosome 3p25 (OMIM 601487). Hereditary disorders of all 3 of these PPARs have been described, generally leading to a loss in function and concomitant lipodystrophy, insulin resistance, and/or acanthosis nigricans. [18]
The Single Nucleotide Polymorphism Database [1] (dbSNP) is a free public archive for genetic variation within and across different species developed and hosted by the National Center for Biotechnology Information (NCBI) in collaboration with the National Human Genome Research Institute (NHGRI).
Ad
related to: omim database slideshare free