PHEX Locus Database
Search Engine Site

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Welcome to the  mutation Search Engine Site! This site is dedicated to the distribution of information about nucleotide variation found in the PHEX gene, the majority of which are found in patients with X-linked hypophosphatemia.

For help or suggestions,  please contact us, and  we will do our best to accomodate your needs.


This part of the site allows the user to retrieve specific information on mutations from the data. Currently the following search types are available:
Mutation Search: Information concerning type of mutation and the specific changes to the codon.

Mutation Listing   

Phenotype Search: Impact of mutation on clinical and biochemical phenotype. Includes information on geographic location of patients.

Phenotype Listing   

Author Search: Information about the source of the work that identified the mutation. Includes full citations as well as PubMed IDs.

Reference Listing   

Mutation Submission Form

PHEX Mutation Analysis

Information Pages:

                  X-Linked Hypophosphatemia    (OMIM number: 307800)

                  XLH Network   

                  PHEX Gene Structure

                  PHEX Model

                  PHEX cDNA Sequence

                  PHEX Recent Literature


data maintained by: Dr. Y. Sabbagh and Dr. H. S. Tenenhouse

©1999 Debelle Data Group

11704 Hit(s) since 2005.07.13

Important support was obtained from:
  • The Canadian Genetic Diseases Network (CGDN-Network of Centers of Excellence)
  • Réseau de Médecine Génétique Appliquée (RMGA-FRSQ)
  • Robert McDonald Gift and Fund
  • MRC of Canada (Group in Medical Genetics) (Historical)