title: PAHdb: a locus-specific knowledgebase.
abstract: PAHdb is an online relational locus-specific "mutation database" (http://www.mcgill.ca/pahdb) for the human phenylalanine hydroxylase gene (symbol PAH) and its associated phenotypes (protein, metabolic, clinical). When combined with associated information (population distribution of allele, haplotype association, etc.) PAHdb functions as a knowledgebase. From the outset, and in the absence of raw data (e.g., sequence gels), PAHdb has instead been an annotated repository of information about mutations maintained by a team of curators. It is also disease-oriented, being focused on a variant phenotype (hyperphenylalaninemia (HPA) and its most important form of disease, phenylketonuria (PKU)) resulting from primary dysfunction of the PAH enzyme (EC 1.14.16.1); it is "patient friendly" in that it contains information for those personally involved with HPA/PKU (MIM# 261600). PAHdb also serves its community through direct interaction.
authors.affiliation: Departments of Biology, Human Genetics, Medicine, and Pediatrics, McGill University Health Centre, Montreal, Quebec, Canada. mc77@musica.mcgill.ca
authors.forename: C R
authors.initials: CR
authors.lastname: Scriver
authors.forename: P J
authors.initials: PJ
authors.lastname: Waters
authors.forename: C
authors.initials: C
authors.lastname: Sarkissian
authors.forename: S
authors.initials: S
authors.lastname: Ryan
authors.forename: L
authors.initials: L
authors.lastname: Prevost
authors.forename: D
authors.initials: D
authors.lastname: Côté
authors.forename: J
authors.initials: J
authors.lastname: Novak
authors.forename: S
authors.initials: S
authors.lastname: Teebi
authors.forename: P M
authors.initials: PM
authors.lastname: Nowacki
mesh_terms: D000483:Alleles; D000818:Animals; D001185:Artificial Intelligence; D002874:Chromosome Mapping; D016208:Databases, Factual; D015870:Gene Expression; D005828:Genetics, Population; D006801:Humans; D020407:Internet; D051379:Mice; D008958:Models, Molecular; D010641:Phenotype; D010651:Phenylalanine Hydroxylase / Q000235:genetics*
chemical_list: D010651:Phenylalanine Hydroxylase