FGF23, fibroblast growth factor 23, 8074

N. diseases: 305; N. variants: 19
Disease: Autosomal dominant hypophosphatemic rickets ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894347
rs104894347
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
CUI: C0342642
Disease:
Autosomal dominant hypophosphatemic rickets 		0.820 GeneticVariation BEFREE We previously demonstrated that the combination of iron deficiency and a knock-in R176Q FGF23 mutation in mature mice induced FGF23 expression and hypophosphatemia that paralleled the late-onset ADHR phenotype. 23873717 2014
dbSNP: rs104894347
rs104894347
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
CUI: C0342642
Disease:
Autosomal dominant hypophosphatemic rickets 		0.820 GeneticVariation UNIPROT Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. 16638743 2006
dbSNP: rs104894347
rs104894347
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
CUI: C0342642
Disease:
Autosomal dominant hypophosphatemic rickets 		0.820 GeneticVariation BEFREE The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency. 12519781 2003
dbSNP: rs104894347
rs104894347
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
CUI: C0342642
Disease:
Autosomal dominant hypophosphatemic rickets 		0.820 GeneticVariation UNIPROT FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate. 11409890 2001
dbSNP: rs104894347
rs104894347
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
CUI: C0342642
Disease:
Autosomal dominant hypophosphatemic rickets 		0.820 GeneticVariation UNIPROT Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. 11062477 2000
dbSNP: rs104894347
rs104894347
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
CUI: C0342642
Disease:
Autosomal dominant hypophosphatemic rickets 		T 0.820 CausalMutation CLINVAR