The IL7R gene, also known as interleukin-7 receptor, is involved in multiple severe immunodeficiency disorders. Mutations in this gene have been found to be associated with Omenn syndrome, a condition characterized by early-onset recurrent infections, severe combined immunodeficiency, and thymic…
The IL31RA gene, also known as interleukin-31 receptor A gene, is a protein-coding gene that is primarily associated with cutaneous amyloidosis. It is listed in various genetic databases such as OMIM and the IL31RA gene catalog. This gene encodes for…
The PPP2R5D gene is one of the genes involved in the development and regulation of various cellular processes. Mutations in the PPP2R5D gene have been found to be associated with specific conditions and diseases, such as intellectual disability and other…
The TGFBR1 gene, also known as Transforming Growth Factor Beta Receptor 1, is an important gene that plays a crucial role in various biological processes. It is listed in numerous databases and scientific articles, making it the subject of intensive…
The EDA gene is a variant of genes that is associated with various diseases and conditions. It plays a significant role in the development and functioning of different tissues and organs in the body. Specifically, this gene is involved in…
The COMP gene, also known as cartilage oligomeric matrix protein, plays a significant role in various genetic diseases related to skeletal dysplasia. This gene is listed in scientific databases such as PubMed and OMIM, providing valuable information about its genetic…
Glycogen storage disease type IX, also known as glycogenosis type IX, is a rare genetic disorder that affects the way glycogen, a form of stored glucose, is produced and broken down in the body. It is caused by mutations in…
The ACAD8 gene, also known as isobutyryl-CoA dehydrogenase deficiency, is a gene that is responsible for producing a protein called isobutyryl-CoA dehydrogenase. This protein plays a vital role in breaking down isobutyryl-CoA, a molecule that is involved in the metabolism…
The ZAP70 gene, also known as Zeta-chain-associated protein 70, is a gene that plays a crucial role in the functioning of the immune system. It is responsible for encoding a protein called ZAP70, which is essential for the activation of…
The FRAS1 gene is a catalog of genetic changes related to Fraser syndrome, a congenital disorder characterized by cryptophthalmos (abnormal development of the eyelids), coloboma (a defect in the structure of the eye), and renal anomalies (abnormalities in the kidneys…