Category Genetics

The CLCN7 gene, also known as clc-7, is an essential gene that plays a crucial role in bone health. It encodes for a channel protein called CLC-7, which is responsible for regulating the passage of negatively charged ions across cell…

CHMP2B-related frontotemporal dementia is a rare genetic disorder that causes a condition called frontotemporal dementia. It is associated with mutations in the CHMP2B gene on chromosome 3. Frontotemporal dementia is a group of neurodegenerative diseases that affect the frontal and…

Osteochondritis Dissecans (OCD) is a rare condition that affects the bones and joints. It is characterized by the detachment of a piece of cartilage and underlying bone from the joint. Familial Osteochondritis Dissecans is a specific form of this condition…

The NOD2 gene, also known as CARD15, is a gene that plays a crucial role in the immune system. It is one of the genes associated with a group of disorders called Blau syndrome . These disorders are characterized by…

Tumor myeloma is a type of cancer that affects plasma cells, which are a kind of white blood cell. This condition is characterized by the abnormal growth of these cells in the bone marrow, leading to the formation of tumors.…

The EIF2AK4 gene, also known as eIF2alpha kinase 4, is a gene that has been found to be associated with various diseases, including pulmonary veno-occlusive disease (PVOD) and pulmonary arterial hypertension. This gene is responsible for encoding a protein that…

Hereditary folate malabsorption (HFM) is a rare genetic condition that affects the body’s ability to absorb and utilize folates, essential vitamins for normal cell function and growth. This condition is also known as hereditary folate malabsorption syndrome and is inherited…

The EPOR gene, also known as the erythropoietin receptor gene, is a gene that plays a central role in the signaling pathway for erythropoietin, a hormone that regulates red blood cell production in the body. Mutations or changes in this…

The CRLF1 gene, also known as the cytokine receptor-like factor 1 gene, is a complex genetic receptor-like gene. It plays a crucial role in the regulation of body temperature, sweating, and other related conditions. Various scientific articles and databases provide…

Multiple epiphyseal dysplasia (MED) is a rare genetic condition that affects the development of bones. It is distinguished by abnormalities in the growth plates, which are areas of cartilage at the ends of long bones that allow for bone growth.…