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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
A genome sequence is the complete list of the nucleotides (A, C, G, and T for DNA genomes) that make up all the chromosomes of an individual or a species. Within a species, the vast majority of nucleotides are identical between individuals, but sequencing multiple individuals is necessary to understand the genetic diversity.
The term childhood disease refers to disease that is contracted or becomes symptomatic before the age of 18 or 21 years old. Many of these diseases can also be contracted by adults. Some childhood diseases include:
•List of human protein-coding genes page 4 covers genes SLC17A8–ZZZ3 NB: Each list page contains 5000 human protein-coding genes, sorted alphanumerically by the HGNC-approved gene symbol. Follow the Python code link for information about updates to the list of genes on these pages.
Genetic and Rare Diseases Information Center (GARD) Office of Rare Diseases (ORD), National Institutes of Health (NIH) CDC's National Center on Birth Defects and Developmental Disabilities; Genetic Disease Information from the Human Genome Project; Global Genes Project, Genetic and Rare Diseases Organization; List of Genetic Disorders - Genome.gov
Babinski–Nageotte syndrome; Baboon syndrome; Baggio–Yoshinari syndrome; Baller–Gerold syndrome; Bamforth–Lazarus syndrome; Bangstad syndrome; Bannayan–Riley–Ruvalcaba syndrome
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The DNA sequence assembly alone is of little value without additional analysis. [9] Genome annotation is the process of attaching biological information to sequences, and consists of three main steps: [68] identifying portions of the genome that do not code for proteins; identifying elements on the genome, a process called gene prediction, and