Online Mendelian Inheritance in Man (OMIM) (2023)

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  2. Bakhshi, A., Jensen, J. P., Goldman, P., Wright, J. J., McBride, O. W., Epstein, A. L., Korsmeyer, S. J. Cloning the chromosomal breakpoint of t(14;18) human lymphomas: clustering around J(H) on chromosome 14 and near a transcriptional unit on 18. Cell 41: 899-906, 1985. [PubMed: 3924412] [Full Text:]

  3. Bakhshi, A., Wright, J. J., Graninger, W., Seto, M., Owens, J., Cossman, J., Jensen, J. P., Goldman, P., Korsmeyer, S. J. Mechanism of the t(14;18) chromosomal translocation: structural analysis of both derivative 14 and 18 reciprocal partners. Proc. Nat. Acad. Sci. 84: 2396-2400, 1987. [PubMed: 3104914] [Full Text:]

  4. Cang, S., Iragavarapu, C., Savooji, J., Song, Y., Liu, D. ABT-199 (venetoclax) and BCL-2 inhibitors in clinical development. J. Hemat. Oncol. 8: 129, 2015. Note: Electronic Article. [PubMed: 26589495] [Full Text:]

  5. Chen, J., Flannery, J. G., LaVail, M. M., Steinberg, R. H., Xu, J., Simon, M. I. Bcl-2 overexpression reduces apoptotic photoreceptor cell death in three different retinal degenerations. Proc. Nat. Acad. Sci. 93: 7042-7047, 1996. [PubMed: 8692941] [Full Text:]

  6. Ciechomska, I. A., Goemans, G. C., Skepper, J. N., Tokovsky, A. M. Bcl-2 complexed with Beclin-1 maintains full anti-apoptotic function. Oncogene 28: 2128-2141, 2009. [PubMed: 19347031] [Full Text:]

  7. Cimmino, A., Calin, G. A., Fabbri, M., Iorio, M. V., Ferracin, M., Shimizu, M., Wojcik, S. E., Aqeilan, R. I., Zupo, S., Dono, M., Rassenti, L., Alder, H., Volinia, S., Liu, C., Kipps, T. J., Negrini, M., Croce, C. M. miR-15 and miR-16 induce apoptosis by targeting BCL2. Proc. Nat. Acad. Sci. 102: 13944-13949, 2005. Note: Erratum: Proc. Nat. Acad. Sci. 103: 2464-2465, 2006. [PubMed: 16166262] [Full Text:]

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    (Video) Online Mendelian Inheritance in Man (ClinGen Biocurator Working Group)

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What is online Mendelian inheritance in man? ›

Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics.

What information does the OMIM online mendelian inheritance in man database provide? ›

OMIM® - Online Mendelian Inheritance in Man. ®

The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 16,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources.

Who funds OMIM? ›

OMIM is supported by a grant from NHGRI, licensing fees, and generous contributions from people like you.

What is the OMIM page in ncbi? ›

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.

What is an example of Mendelian inheritance in man? ›

Inheritance PatternDisease Examples
Autosomal RecessiveTay-sachs disease, sickle cell anemia, cystic fibrosis, phenylketonuria (PKU)
X-linked DominantHypophatemic rickets (vitamin D-resistant rickets), ornithine transcarbamylase deficiency
X-linked RecessiveHemophilia A, Duchenne muscular dystrophy
2 more rows

What is an example of Mendelian trait that we find in humans? ›

Examples of human autosomal Mendelian traits include albinism and Huntington's disease. Examples of human X-linked traits include red-green colour blindness and hemophilia.

What does OMIM tell you? ›

Online Mendelian Inheritance in Man (OMIM®) is a continuously updated catalog of human genes and genetic disorders and traits, with particular focus on the molecular relationship between genetic variation and phenotypic expression.

Why is OMIM important? ›

OMIM ENTRIES. Throughout its history, the primary mission of OMIM has been to collect and curate knowledge on human genes and genetic disorders and traits.

Is OMIM part of ncbi? ›

Distribution of OMIM and software development are provided by the National Center for Biotechnology Information (NCBI) at the National Library of Medicine (NLM).

Is OMIM a primary database? ›

Online Mendelian Inheritance in Man (OMIM), a continuation of Dr Victor A. McKusick's Mendelian Inheritance in Man (MIM) (1), is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them.

Who writes OMIM? ›

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. The OMIM database is made available to the general public subject to certain restrictions.

What is the major gene database funded by the US government? ›

GenBank is the NIH genetic sequence database, an annotated collection of all publicly available DNA sequences.

Is OMIM a secondary database? ›

OMIM is a secondary database consists of data derived from the analysis of primary data such as sequences, active site residue of proteins and so on. Thus the correct answer is option C.

How do I find my gene name on NCBI? ›


From the NCBI home page, click on the Search pull-down menu to select the Gene database, type the Gene Name in the text box and click Go. See Gene Help for tips searching Gene. Locate the desired Gene record in the results and click the symbol to open the record.

How do I get a whole genome sequence from NCBI? ›

How to: Find transcript sequences for a gene
  1. Search the Gene database with the gene name, symbol. ...
  2. Click on the desired gene.
  3. Click on Reference Sequences in the Table of Contents at the upper right of the gene record.

Is Mendelian inheritance correct? ›

However, modern studies have revealed that most traits in humans are controlled by multiple genes as well as environmental influences and do not necessarily exhibit a simple Mendelian pattern of inheritance(see “Mendel's Experimental Results”).

What are the three types of Mendelian inheritance? ›

Three major patterns of Mendelian inheritance for disease traits are described: autosomal dominant, autosomal recessive, and X-linked (Figure 1.1). Mendelian inheritance patterns refer to observable traits, not to genes.

What are the 5 non-Mendelian inheritance? ›

The different types of non-Mendelian inheritance are incomplete dominance, codominance, multiple alleles, sex-linked inheritance, and polygenetic traits.

Do Mendelian laws apply to human beings? ›

Human genes do follow Mendelian laws. However, humans are not peas. Although I tried to explain eye color inheritance as a single gene system, scientists now believe that two or three genes are involved in eye color determination./dnaftb/concept_13/con13anigene.

Does Mendelian genetics apply to humans? ›

Mendelian traits in humans are human traits that are substantially influenced by Mendelian inheritance. Most — if not all — Mendelian traits are also influenced by other genes, the environment, immune responses, and chance.

What are the Mendelian laws of inheritance in human? ›

Mendel's laws of inheritance include law of dominance, law of segregation and law of independent assortment. The law of segregation states that every individual possesses two alleles and only one allele is passed on to the offspring.

Does my genome determine everything about me? ›

Does my genome determine everything about me? Not entirely. Genomes are complicated, and while a small number of your traits are mainly controlled by one gene, most traits are influenced by multiple genes.

What is OMIM 167000? ›

Entry - #167000 - OVARIAN CANCER - OMIM.

How do you analyze gene expression data? ›

Most of these techniques, including microarray analysis and reverse transcription polymerase chain reaction (RT-PCR), work by measuring mRNA levels. However, researchers can also analyze gene expression by directly measuring protein levels with a technique known as a Western blot.

How many genes with known sequence and phenotype are currently present in OMIM? ›

The phenotype–gene relationships are tabulated in OMIM's Morbid Map of the Human Genome (Morbid Map). Currently, over 6200 phenotypes have been attributed to molecular alterations in over 3900 genes (Figure ​

Which database contains information on mendelian disorders? ›

OMIM is a comprehensive, authoritative database that features catalogs of autosomal dominant, autosomal recessive, x-linked, y-linked, and mitochondrial phenotypes. Includes information on human genes and genetic disorders.

Why is it important for us to study the human genome? ›

It enables us to: search for genes linked to different types of disease. understand inherited disorders and their treatment. trace human migration patterns from the past.

Is OMIM peer-reviewed? ›

OMIM is based on the peer-reviewed biomedical literature. Information in each OMIM entry is cited, and the full reference is provided.

What is the database for genetic mutations? ›

The Human Gene Mutation Database (HGMD®) represents an attempt to collate known (published) gene lesions responsible for human inherited diseases. It is a repository of inherited mutation data useful for medical research, genetic diagnosis, and next-generation sequencing studies.

Who is NCBI owned by? ›

PubMed Overview

Available to the public online since 1996, PubMed was developed and is maintained by the National Center for Biotechnology Information (NCBI), at the U.S. National Library of Medicine (NLM), located at the National Institutes of Health (NIH).

What is the source material for OMIM? ›

The primary source material for OMIM is the published literature. The scientific staff review sev- eral leading journals that publish major articles in clinical and molecular genetics.

What is phenotype mapping key in OMIM? ›

Phenotype map key 1: the disorder has been placed on the map based on its association with a gene, but the underlying defect is not known. Phenotype map key 2: the disorder has been placed on the map by linkage; no mutation has been found.

How do you read genomic coordinates? ›

Genomic coordinates are directly related to the reference genome and include the chromosome name, start position, and end position in the following format: chr1:1234570-1234870. For more information about genomic coordinates and reference genomes, see our Glossary of common genetic and bioinformatic terms.

Who owns your genome? ›

The interpretation of the courts is that once the DNA/tissue leaves the body, it is no longer the property of the individual. The courts seem to be relying on the informed consent contracts that patients sign prior to any procedure, which establishes clear guidelines for the future ownership of said materials.

Who invented gene mapping? ›

One hundred years ago, in 1913, Alfred H. Sturtevant helped lay the foundations of modern biology by mapping the relative location of a series of genes on a chromosome.

Is OMIM curated? ›

Genome databases for vertebrates and other eukaryotic species. A curated repository of published and unpublished data on human mitochondrial DNA variation.

What American company is the king of genetic sequencing? ›

About Illumina

Our focus on innovation has established us as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets.

What is the largest genetics database? ›

Regeneron Genetics Center, home to the world's largest and most diverse database of genomes, is digging deeper. By tapping into this vast data resource, scientists at Regeneron are able to make discoveries about human health and genetics that may accelerate the drug development process.

What is the biggest gene sequencing company? ›


Illumina is the leading provider of sequencing services and sells both instruments and reagents for genome sequencing. Illumina was founded in 1998 and now controls over 80% of the sequencing market. The company reported a 2021 revenue of $4.526 billion and a market cap of $28.92 billion as of September.

Who benefits from information derived from OMIM? ›

Description of MIM/OMIM

It consists of full-text overviews of genes and genetic phenotypes, particularly disorders, and is useful to students, researchers, and clinicians.

What is the name of one public DataBase for data on genetics and genomics? ›

The Genome Database (GDB, ) is a public repository of data on human genes, clones, STSs, polymorphisms and maps.

How do you identify an unknown DNA sequence? ›

A computer program can be used to check an unknown DNA sequence for ORFs. The program transcribes each DNA strand into its complementary RNA sequence and then translates the RNA sequence into an amino acid sequence. Each DNA strand can be read in three different reading frames.

How many genes do humans have? ›

An international research effort called the Human Genome Project, which worked to determine the sequence of the human genome and identify the genes that it contains, estimated that humans have between 20,000 and 25,000 genes. Every person has two copies of each gene, one inherited from each parent.

How do you find the Snps in a gene NCBI? ›

Go to NCBI web page
  1. Select the “SNP” database from the “All Databases” pull down menu (Figure 1.19.1)
  2. Type rs1815739 in the query box and click on the Go button. ...
  3. Click on the rs1815739 link to view the full record (Figure 1.19. ...
  4. Click on the Search link in the dark blue column to the left.

What is Mendelian inheritance explanation? ›

Mendelian inheritance refers to an inheritance pattern that follows the laws of segregation and independent assortment in which a gene inherited from either parent segregates into gametes at an equal frequency.

What is non-Mendelian inheritance in man hereditary diseases? ›

Genetic traits located on gonosomes sometimes show specific non-Mendelian inheritance patterns. Individuals can develop a recessive trait in the phenotype dependent on their sex—for example, colour blindness and haemophilia (see gonosomal inheritances).

What are Mendelian diseases in humans? ›

Well-known examples of Mendelian diseases include cystic fibrosis, sickle cell disease, and Duchenne muscular dystrophy. Other genetic diseases, including cancer, result from somatic mutations, which occur in individual cells during a person's lifetime.


(Joseph Ross)
2. Database of Mendelian traits in humans and animals | OMIM and OMIA
(Genomics Boot Camp)
3. OMIM Presentation
(JSU Bioinformatics)
4. GeneScout Tutorial
5. OMIM part 1
(Kelvin Ex Machina)
(Michael McGruther)
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