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1. www.ncbi.nlm.nih.gov › omimHome - OMIM - NCBI - National Center for Biotechnology ...

   www.ncbi.nlm.nih.gov › omim

   3 days ago · OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh.

2. www.omim.org › entry › 620860G PROTEIN-COUPLED RECEPTOR 157; GPR157 - OMIM

   www.omim.org › entry › 620860

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   3 days ago · The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources.

3. www.nature.com › articles › s41431/024/01661-4Burden re-analysis of neurodevelopmental disorder cohorts for ...

   www.nature.com › articles › s41431/024/01661-4

   2 days ago · Of the nine genes, only VCP and ADCY5 were associated with disease phenotypes in the OMIM database, but with a link to neurodegenerative diseases and dyskinesia, respectively, and not to an NDD.

4. www.frontiersin.org › journals › neurologyFrontiers | Insights into brain tumor diagnosis: exploring in ...

   www.frontiersin.org › journals › neurology

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   3 days ago · The OMIM database contains 53 entries with the keywords “pituitary adenoma,” but most of the gene mutations are challenging to verify using hybridization methods . Mutations that can be visualized using fluorescent or comparative hybridization include increased expression of CRHR1 or the C-RET gene, primarily among GH and ACTH-secreting adenomas (OMIM 122561; OMIM 164761).

5. www.mdpi.com › 1424/8247/17-7 › 899Pharmaceuticals | Free Full-Text | Network Medicine: A ... - MDPI

   www.mdpi.com › 1424/8247/17-7 › 899

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   13 hours ago · One such database, OMIM, mainly stores information on genetic diseases and gene mutations . The PharmGKB database compiles data on the impact of human genetic variability in drug response, encompassing details on gene–drug associations, FDA-approved drug labels featuring genetic content, and data from research and clinical trials.

6. phgkb.cdc.gov › PHGKB › startPagePhenoPediaHuGE Navigator|Phenopedia|PHGKB - Public Health Genomics ...

   phgkb.cdc.gov › PHGKB › startPagePhenoPedia

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   2 days ago · The CDC Public Health Genomics and Precision Health Knowledge Base (PHGKB) is an online, continuously updated, searchable database of published scientific literature, CDC resources, and other materials that address the translation of genomics and precision health discoveries into improved health care and disease prevention.

7. People also ask

   What is OMIM?

   • OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh. Its official home is omim.org.

   Home - OMIM - NCBI - National Center for Biotechnology Information

   www.ncbi.nlm.nih.gov/omim/?term=

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   Where can I find OMIM/OMIM?

   • MIM/OMIM is produced and curated at the Johns Hopkins School of Medicine (JHUSOM). OMIM became available on the internet in 1987 under the direction of the Welch Medical Library at JHUSOM with financial support from the Howard Hughes Medical Institute.

   Online Mendelian Inheritance in Man - Wikipedia

   en.wikipedia.org/wiki/Mendelian_Inheritance_in_Man

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   What is the OMIM gene map?

   • The OMIM gene map is maintained as a convenience to users and focuses on the "morbid map," i.e., the mapping of disorders. It contains information on chromosomal location, based on linkage and other mapping methods, obtained from the literature cited in the entry.

   Features of the OMIM database - Biology Workbench

   www.clicktocurecancer.info/biology-workbench/features-of-the-omim-database.html

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   What is a OMIM file?

   • A tab-delimited file of MIM numbers and titles. A tab-delimited file containing OMIM's Synopsis of the Human Gene Map including additional information such as genomic coordinates and inheritance. A tab-delimited file of OMIM's Synopsis of the Human Gene Map (same as genemap2.txt above) sorted alphabetically by disorder.

   Downloads Access Request - OMIM

   omim.org/downloads/

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8. academic.oup.com › humrep › articleO-058 Newly identified female mutations causing oocyte ...

   academic.oup.com › humrep › article

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   3 days ago · Recently, deficiencies in oocyte maturation and embryo development have been categorized as part of the oocyte/zygote/embryo arrest (OZEMA) phenotype in the Online Mendelian Inheritance in Man (OMIM) database.