Genes

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A gene is the basic physical and functional unit of heredity. Genes are made up of DNA. Some genes act as instructions to make molecules called proteins. However, many genes do not code for proteins. In humans, genes vary in size from a few hundred DNA bases to more than 2 million bases. The Human Genome Project estimated that humans have between 20,000 and 25,000 genes.

Every person has two copies of each gene, one inherited from each parent. Most genes are the same in all people, but a small number of genes (less than 1 percent of the total) are slightly different between people. Alleles are forms of the same gene with small differences in their sequence of DNA bases. These small differences contribute to each person’s unique physical features.

Scientists keep track of genes by giving them unique names. Because gene names can be long, genes are also assigned symbols, which are short combinations of letters (and sometimes numbers) that represent an abbreviated version of the gene name. For example, a gene on chromosome 7 that has been associated with cystic fibrosis is called the cystic fibrosis transmembrane conductance regulator; its symbol is CFTR.



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Genetic terms glossaries.

Glossary of Genetics | Glossary of genetic testing terms | Dictionary of genetics | Rare diseases

Common genetic disorders This list of genetic, orphan and rare diseases is provided for informational purposes only and is not comprehensive.

Common genetic disorders list A-Z Common genetic disorders list A-Z
* achondroplasia * alpha-1 antitrypsin deficiency
* antiphospholipid syndrome * attention deficit hyperactivity disorder
* autism * autosomal dominant polycystic kidney disease
* breast cancer * charcot-marie-tooth disease
* colon cancer * cri du chat syndrome
* crohn's disease * cystic fibrosis
* dercum disease * down syndrome
* duane syndrome * duchenne muscular dystrophy
* factor v leiden thrombophilia * familial hypercholesterolemia
* familial mediterranean fever * fragile x syndrome
* gaucher disease * hemochromatosis
* hemophilia * holoprosencephaly
* ​huntington's disease * inborn errors of metabolism
* klinefelter syndrome * marfan syndrome
* ​methylmalonic acidemia * myotonic dystrophy
* neurofibromatosis * noonan syndrome
* osteogenesis imperfecta * parkinson's disease
* phenylketonuria * poland anomaly
* porphyria * progeria
* prostate cancer * retinitis pigmentosa
* severe combined immunodeficiency * sickle cell disease
* skin cancer * spinal muscular atrophy
* tay-sachs disease * thalassemia
* trimethylaminuria * turner syndrome
* velocardiofacial syndrome * wilson disease

A-Z of Genetic Diseases (External)

0-9 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

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