Relationship between gene and disease

An analysis of disease-gene relationship from Medline abstracts by DigSee

relationship between gene and disease

As we have learnt more about the relationship between genes and disease, particularly since the completion of the Human Genome. Project, more and more . Quite simply chromosomes are responsible for transferring genetic in the physical differences in appearance among people like the colour of their eyes According to the degree of gene mutation, diseases are categorised into the following. Some well-known inherited genetic disorders include cystic fibrosis, sickle cell anemia, Tay-Sachs disease, phenylketonuria and color-blindness, among many .

An analysis of disease-gene relationship from Medline abstracts by DigSee

The network analysis of this integrated database points out that data integration is needed to obtain a comprehensive view of the genetic landscape of human diseases and that the genetic origin of complex diseases is much more common than expected. Used when a sequence variation a mutation, a SNP is associated to the disease phenotype, but there is still no evidence to say that the variation causes the disease.

relationship between gene and disease

In some cases the presence of the variants increase the susceptibility to the disease. Alterations in the function of the protein by means of altered expression of the gene are associated with the disease phenotype.

relationship between gene and disease

Alterations in the function of the protein by means of post-translational modifications methylation or phosphorylation of the protein are associated with the disease phenotype. Trends in Molecular Medicine doi: Cristiano F, Veltri P. In addition, literature-wide distribution of biological events across disease types reveals different characteristics of disease types.

Identification of the genes involved in diseases is an important tool for revealing the molecular mechanisms of disease development and for the development of new drugs.

relationship between gene and disease

Although existing web services, such as Online Mendelian Inheritance in Man OMIM 1 and GeneCards 2identify genes related to diseases, these manually curated databases provide only a small percentage of the possible disease-gene relationships, once the rapid growth of scientific articles in the biomedical domain is taken into account.

DISEASES 4 has extracted disease-gene associations from biomedical articles based on a text mining system with a comprehensive collection of dictionaries for human gene names, disease names, and their synonyms. DisGeNET 5 collected more thandisease-gene associations by combining several curated databases with text-mined data.

To assist the navigation of disease-gene associations from these various sources, it ranked the associations with prioritization scores.

In addition to the above text mining tools providing the search engine functionality, several text mining methods to extract gene-disease relation from the literature have been developed.

Various machine learning based methods, including a maximum entropy model 6conditional random field 7and support vector machine 8have been proposed.

These methods were often combined with features from a dependency parser 8 and several network properties from a disease-specific gene interaction network 9and the performances of these methods were tested using manually constructed corpora. Heredity helps to make you the person you are today: Can your genes determine whether you'll be a straight-A student or a great athlete?

Heredity plays an important role, but your environment including things like the foods you eat and the people you interact with also influences your abilities and interests.

  • The Basics on Genes and Genetic Disorders
  • Gene Disease Database
  • Mutations and Disease

A person can have changes or mutations in a gene that can cause many issues for them. Sometimes changes cause little differences, like hair color. Other changes in genes can cause health problems.

Mutations in a gene usually end up causing that particular gene copy to not do its job the way it normally should.

Gene Disease Database - Wikipedia

Since we have two copies of every gene, typically there's still a "normal" working copy of the gene. In these cases, usually nothing out of the ordinary happens since the body can still do the jobs it needs to do. This is an example of an autosomal recessive trait. For someone to have a recessive disease or characteristic, the person must have a gene mutation in both copies of the gene pair, causing the body to not have working copies of that particular gene.

Genes can be either dominant or recessive. Dominant genes show their effect even if there is just one mutation in one copy of that gene pair; the one mutation "dominates" the normal back-up copy of the gene, and the characteristic shows itself. A person can be born with gene mutations, or they can happen over a lifetime.

Mutations can occur when cells are aging or have been exposed to certain chemicals or radiation. Fortunately, cells usually recognize these types of mutations and repair them by themselves.

The Basics on Genes and Genetic Disorders (for Teens)

Other times, however, they can cause illnesses, such as some types of cancer. If the gene mutation exists in egg or sperm cells, children can inherit the gene mutation from their parents.

relationship between gene and disease

What Are Genetic Disorders? Researchers have identified more than 4, diseases that are caused by mutations. But having a genetic mutation that may cause a disease or condition doesn't always mean that a person will actually develop that disease or condition. On average, people probably carry from 5 to 10 genes with mutations in each of their cells. Problems happen when the particular gene is dominant or when a mutation is present in both copies of a recessive gene pair.