Hemophilia
Hemophilia is a rare genetic disorder that affects the body’s ability to produce clotting factors. It is characterized by a deficiency of…
ABCG5 gene
The ABCG5 gene is part of a genetic sub-family of transporters that are responsible for the transport of sterolin-1 and sterolin-2. These…
MOCOS gene
The MOCOS gene (also known as Molybdenum Cofactor Sulfurase) is responsible for the production of an enzyme called MOCOS which plays a…
Nager syndrome
Nager Syndrome, also known as Nager Acrofacial Dysostosis, is a rare genetic disorder with a frequency of about 1 in 50,000 to…
Hereditary angioedema
Hereditary angioedema (HAE) is a rare genetic condition that causes recurrent episodes of swelling in various parts of the body. It is…
PGM3 gene
The PGM3 gene, also known as phosphoglucomutase 3, is a gene that is involved in glycosylation. It has been extensively studied and…
DMD gene
The DMD (Duchenne muscular dystrophy) gene is a vital gene that is related to a familial and small cause of muscular dystrophy.…
Restless legs syndrome
The restless legs syndrome (RLS) is a neurological condition that affects the nervous system and causes an irresistible urge to move the…
RAPADILINO syndrome
Rapadilino syndrome is a rare genetic disorder. It is caused by mutations in the RECQL4 gene. This gene provides instructions for making…