Category Genetics

The DCX gene is a genetic result that has been linked to several neurological conditions. It stands for doublecortin and is responsible for a protein that plays a role in the migration of neurons during brain development. Changes in the…

SOST-related sclerosing bone dysplasia is a rare genetic condition that affects the bones. It is associated with a mutation in the SOST gene, which codes for sclerostin, a protein that regulates bone development and growth. Patients with SOST-related sclerosing bone…

The clpb gene is a genetic disorder that can cause a range of health conditions. It is listed in various databases and resources, such as OMIM and PubMed, which provide additional information and references related to this gene. CLPB gene…

The IRF5 gene, also known as Interferon Regulatory Factor 5, is a vital gene that plays a significant role in regulating the body’s immune response to viruses and other pathogens. It is involved in the production of interferon, a protein…

Leber congenital amaurosis (LCA) refers to a group of rare genetic disorders that cause severe vision loss and visual impairment from birth or within the first few months of life. LCA is known to be caused by mutations in at…

SATB2-associated syndrome is a rare genetic condition that is caused by mutations in the SATB2 gene. The syndrome is associated with a range of physical and developmental disabilities. The SATB2 gene is located on chromosome 2q32-q33 and is involved in…

The BMPR1A gene, also known as bone morphogenetic protein receptor type 1A, is a gene that plays a crucial role in the health and development of individuals. Mutations in the BMPR1A gene have been found to be associated with a…

Congenital fibrosis of the extraocular muscles (CFEOM) is a rare genetic condition that affects eye movement. It is also known as fibrosis of the extraocular muscles or hereditary external ophthalmoplegia. In CFEOM, the extraocular muscles, which control the movements of…

Spondyloenchondrodysplasia with immune dysregulation is a rare autosomal recessive genetic condition characterized by abnormal bone and cartilage development. It is associated with immune dysregulation, which leads to recurrent infections. During the development of the bones, the cartilage undergoes abnormal breakdown…

The ARFGEF2 gene is a gene that is associated with certain conditions such as periventricular heterotopia and other related genetic diseases. It is also known by other names such as Bicaudal D2 and GEP100. Variants of this gene have been…