PAHdb: a locus-specific knowledgebase.
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.
Scriver
C R
CR
Departments of Biology, Human Genetics, Medicine, and Pediatrics, McGill University Health Centre, Montreal, Quebec, Canada. mc77@musica.mcgill.ca
Waters
P J
PJ
Sarkissian
C
C
Ryan
S
S
Prevost
L
L
Côté
D
D
Novak
J
J
Teebi
S
S
Nowacki
P M
PM
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*
D010651:Phenylalanine Hydroxylase