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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 ...
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
OMIM (Online Mendelian Inheritance in Man): inherited diseases; RefSeq; 1000 Genomes Project: launched in January 2008. The genomes of more than a thousand anonymous participants from a number of different ethnic groups were analyzed and made publicly available.
This page was last edited on 21 April 2011, at 00:06 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike 4.0 License; additional terms may ...
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.
3815 16590 Ensembl ENSG00000157404 ENSMUSG00000005672 UniProt P10721 P05532 RefSeq (mRNA) NM_000222 NM_001093772 NM_001122733 NM_021099 RefSeq (protein) NP_000213 NP_001087241 NP_001116205 NP_066922 Location (UCSC) Chr 4: 54.66 – 54.74 Mb Chr 5: 75.74 – 75.82 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Proto-oncogene c-KIT is the gene encoding the receptor tyrosine kinase ...
KLF11 has been associated with a form of diabetes [14] that has been characterized as "MODY7" by OMIM. [15] CEL-MODY MODY 8: 609812: Bile salt dependent lipase CEL has been associated with a form of diabetes [16] that has been characterized as "MODY8" by OMIM. [17] It is very rare with five families reported to date.
The latent TGF-beta binding proteins (LTBP) are a family of carrier proteins. [1] [2]LTBP is a family of secreted multidomain proteins that were originally identified by their association with the latent form of transforming growth factors.