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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 ...
page name is an optional parameter to display the OMIM page name display options is an optional parameter to set various output choices. If left blank or unused, will show the linked name in full
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
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.
Extensions are usually independently developed and maintained by different people, but at some point in the future, a widely used extension can be merged with Git. Other open-source Git extensions include: git-annex, a distributed file synchronization system based on Git; git-flow, a set of Git extensions to provide high-level repository ...
12876 Ensembl ENSG00000109472 ENSMUSG00000037852 UniProt P16870 Q00493 RefSeq (mRNA) NM_001873 NM_013494 RefSeq (protein) NP_001864 NP_038522 Location (UCSC) Chr 4: 165.36 – 165.5 Mb Chr 8: 65.05 – 65.15 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Carboxypeptidase E (CPE), also known as carboxypeptidase H (CPH) and enkephalin convertase, is an enzyme that in humans is encoded ...
The extra-abdominal form is rare and desmoids of the breast may arise in the mammary gland or may occur as an extension of a lesion arising from the muscles of the chest wall. The incidence of mammary desmoid tumors is less than 0.2% of primary breast neoplasms. In Gardner's syndrome, the incidence ranges from 4% to 17%.
6469 20423 Ensembl ENSG00000164690 ENSMUSG00000002633 UniProt Q15465 Q62226 RefSeq (mRNA) NM_000193 NM_001310462 NM_009170 RefSeq (protein) NP_000184 NP_001297391 NP_033196 Location (UCSC) Chr 7: 155.8 – 155.81 Mb Chr 5: 28.66 – 28.67 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Sonic hedgehog protein (SHH) is encoded for by the SHH gene. The protein is named after the video ...