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: rs193922702
rs193922702
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: rs193922702
rs193922702
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
CUI: C0342642
Disease:
Autosomal dominant hypophosphatemic rickets 		0.820 GeneticVariation BEFREE We previously detected missense mutations R176Q, R179W, and R179Q in FGF23 from ADHR kindreds. 11737582 2001
dbSNP: rs193922702
rs193922702
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
CUI: C0342642
Disease:
Autosomal dominant hypophosphatemic rickets 		0.820 GeneticVariation BEFREE Here we show that both wild-type FGF-23 and the ADHR mutant, FGF-23(R179Q), inhibit phosphate uptake in renal epithelial cells. 11409890 2001
dbSNP: rs193922702
rs193922702
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
CUI: C0342642
Disease:
Autosomal dominant hypophosphatemic rickets 		0.820 GeneticVariation UNIPROT Here we show that both wild-type FGF-23 and the ADHR mutant, FGF-23(R179Q), inhibit phosphate uptake in renal epithelial cells. 11409890 2001
dbSNP: rs193922702
rs193922702
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: rs193922702
rs193922702
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
CUI: C0342642
Disease:
Autosomal dominant hypophosphatemic rickets 		T 0.820 CausalMutation CLINVAR