Epidermolytic hyperkeratosis is a genetic condition characterized by palmoplantar hyperkeratosis, a thickening of the skin on the palms of the hands and soles of the feet. This rare condition is associated with mutations in the KRT10 and KRT1 genes. The…
Hereditary cerebral amyloid angiopathy (CAA) is a rare genetic condition that affects the blood vessels in the brain. It is characterized by the accumulation of amyloid deposits in the walls of small and medium-sized blood vessels, leading to the development…
The HCN4 gene, also known as the hyperpolarization activated cyclic nucleotide-gated channel 4 gene, is a gene that plays a crucial role in the functioning of the heart. It encodes a protein that forms a voltage-gated ion channel involved in…
The MMP14 gene, also known as membrane-type matrix metalloproteinase 14, is a genetic element that plays a crucial role in various diseases and cellular processes. This gene is involved in tissue remodeling, and its mutations have been linked to several…
The X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN) syndrome is a rare primary immunodeficiency disorder. It is caused by a deficiency in the MAGT1 gene, which is located on the X chromosome. This condition primarily affects…
The RIT1 gene is a gene that encodes for a small GTPase protein, which is involved in cellular processes such as signal transduction and protein transport. It is found to be highly expressed in lung tissues and has been associated…
The CHRNA4 gene, also known as the alpha-4 subunit of the nicotinic acetylcholine receptor, is a gene that encodes for a protein involved in the functioning of neurotransmitter receptors. This gene has been found to be associated with several neurological…
Raynaud phenomenon is a condition that affects the blood vessels in the fingers, toes, ears, and nose. It is characterized by episodes of vasospasm, which is a sudden narrowing of the blood vessels. This causes a decrease in blood flow…
Heritability is a term used in genetics to describe the proportion of observed variability in a trait that can be attributed to genetic factors. It is often expressed as a number between 0 and 1, representing the proportion of variability…
The CCBE1 gene is a variant of the Schulte-Merker gene. It has been extensively studied and documented in scientific articles listed on PubMed. Resources like the Registry of Research on Genetic Mutations (RRGM) and Genet-Names have also catalogued information about…