The PGAP2 gene, also known as Post-GPI Attachment to Proteins 2 gene, is a gene that is involved in the synthesis of various proteins. It is released from the phosphatase-associated GPI synthesis-related delay in the pathways. The gene is listed…
The ACTA2 gene, also known as actin, alpha cardiac/skeletal muscle, is a gene that plays a crucial role in the health and function of the body’s muscles, particularly the muscles in the aorta. Mutations in this gene have been found…
The PDE6H gene is a genetic variant that has been associated with several disorders and diseases characterized by brain and vision abnormalities. It is listed in the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive catalog of…
Emanuel syndrome is a rare genetic condition associated with unbalanced translocation of chromosomes. It is also known as derivative 22 syndrome or supernumerary der(22)t(11;22) syndrome. This condition is caused by an additional genetic material on chromosome 22, which can lead…
Renal tubular dysgenesis is a rare genetic condition that affects the development of the kidneys. It is characterized by the absence or underdevelopment of the renal tubules, the structures in the kidneys that are responsible for filtering waste from the…
Ewing sarcoma is a rare genetic disease that affects children and young adults. It is one of the rarest forms of bone cancer, accounting for less than 1% of all childhood cancers. Ewing sarcoma is caused by a specific gene…
17q12 deletion syndrome, also known as renal cysts and diabetes syndrome (RCAD), is a rare genetic condition caused by a deletion of a small piece of chromosome 17 at position q12. The syndrome is associated with a range of clinical…
The CTNND1 gene is an important gene that is related to various diseases and conditions. It has been extensively studied and researched in the field of genetics and health. Many scientific articles and research papers have been published on this…
The OBSL1 gene, also known as obscurin-like 1, is a genetic precursor gene that codes for obscurin-like proteins. These proteins play an important role in various biological processes and are associated with multiple health conditions, including genetic disorders and syndromes.…
Single nucleotide polymorphisms (SNPs) are the most common type of genetic variation that occur within the human genome. SNPs are tiny changes in a single nucleotide base pair, and they can have a significant impact on an individual’s susceptibility to…