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- Pelizaeus-Merzbacher-like disease type 1 is an inherited condition involving the brain and spinal cord (central nervous system). This disease is one of a group ...
- Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body. Sodium regulation, which ... as the sweat glands and colon. Pseudohypoaldosteronism type 1 is named for its characteristic signs and symptoms, ...
- Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of nerve cells in the part ...
- Acute necrotizing encephalopathy type 1, also known as susceptibility to infection-induced acute encephalopathy 3 or IIAE3, is a rare type of brain disease ( ...
- The NKX2-1 gene provides instructions for making a protein called homeobox protein Nkx-2.1, which is a member of the homeobox protein family. Homeobox proteins ...
- The RNU7-1 gene provides instructions for making one piece (subunit) of a group of proteins known as the U7 small ... replication). Variants (also called mutations) in the RNU7-1 gene have been found to cause Aicardi-Goutières ...
- ... divided into 23 pairs. Two copies of chromosome 1, one copy inherited from each parent, form one of the pairs. Chromosome 1 is the largest human chromosome, spanning about 249 ...
- The MAP2K1 gene provides instructions for making a protein known as MEK1 protein kinase. This protein is part of a signaling pathway called the RAS/MAPK ...
- The ALG1 gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar ...
- The UGT1A1 gene belongs to a family of genes that provide instructions for making enzymes called UDP-glucuronosyltransferases. These enzymes perform a chemical ...
