Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypophosphatemic Rickets, X-Linked Dominant
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
0.800 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991 2000
Hypophosphatemic Rickets, X-Linked Dominant
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
0.800 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247 2000
Hypophosphatemic Rickets, X-Linked Dominant
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
0.800 GeneticVariation UNIPROT Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. 10439971 1999
Hypophosphatemic Rickets, X-Linked Dominant
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
0.800 GeneticVariation UNIPROT A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. 9768646 1998
Hypophosphatemic Rickets, X-Linked Dominant
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
0.800 GeneticVariation UNIPROT Mutational analysis of PHEX gene in X-linked hypophosphatemia. 9768674 1998
Hypophosphatemic Rickets, X-Linked Dominant
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
0.800 GeneticVariation UNIPROT Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. 9106524 1997
Hypophosphatemic Rickets, X-Linked Dominant
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
0.800 GeneticVariation UNIPROT Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). 9097956 1997
Hypophosphatemic Rickets, X-Linked Dominant
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
0.800 GeneticVariation UNIPROT Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. 9199930 1997
Hypophosphatemic Rickets, X-Linked Dominant
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
0.800 CausalMutation CLINVAR