The COL17A1 gene, also known as collagen alpha-1(XVII) chain, is a genet involved in the formation of structures such as collagen and the epidermolysis. It is associated with various genetic conditions and diseases, including generalized atrophic benign epidermolysis bullosa. Mutations…
Adenosine deaminase 2 (ADA2) deficiency is a rare genetic condition associated with a pro-inflammatory vasculopathy and affecting multiple tissues. It is also known by other names such as DADA2 (Deficiency of ADA2), and deficiency of ADA2 (DOA2). This condition is…
The ZNF341 gene is an autosomal dominant variant that has been associated with various genetic conditions. It has been identified as a potential cause for several syndromes and diseases, including hyper-IgE syndrome, PUEL syndrome, and other immunological disorders. This gene…
The EMD gene, also known as emerin, is a gene that plays a crucial role in the regulation of various cellular functions. Mutations in this gene have been linked to Emery-Dreifuss muscular dystrophy, a genetic condition characterized by muscle wasting…
ALG1-congenital disorder of glycosylation (ALG1-CDG) is a rare genetic condition that affects the production of proteins and fats in the body. It is one of a group of diseases known as congenital disorders of glycosylation (CDG), which are inherited conditions…
The CIITA gene is involved in the regulation of immune responses and plays a critical role in the immune system. It encodes a class II major histocompatibility complex (MHC) transactivator protein. Mutations in this gene can lead to various autoimmune…
Langer mesomelic dysplasia is a rare genetic condition that affects the growth of bones in the legs and arms. It is caused by mutations in the LMX1A gene, which is necessary for the normal development of the skeletal system. This…
The CACNA1S gene, also known as the L-type calcium channel alpha 1 subunit, is responsible for encoding a protein that forms calcium channels in skeletal muscles. These channels play a crucial role in muscle contraction and relaxation. Mutations in the…
The FGFR4 gene, also known as fibroblast growth factor receptor 4, is an important genetic component that plays a significant role in various diseases and conditions. It is listed in various genetic databases, including OMIM, and has been extensively studied…
The DHH gene, also known as desert hedgehog, is a gene that plays a critical role in the development and function of certain cells and tissues in the body. It is one of several genes that are associated with various…