FGF23, fibroblast growth factor 23, 8074

N. diseases: 305; N. variants: 19
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693863
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 		0.600 GeneticVariation disease UNIPROT A new missense mutation in FGF23 gene in a male with hyperostosis-hyperphosphatemia syndrome (HHS). 24680727 2014
CUI: C4693863
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 		0.600 Biomarker disease GENOMICS_ENGLAND An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. 15590700 2005
CUI: C4693863
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 		0.600 GeneticVariation disease UNIPROT A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. 16151858 2005
CUI: C4693863
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 		0.600 GeneticVariation disease UNIPROT An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. 15590700 2005
CUI: C4693863
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 		0.600 GeneticVariation disease UNIPROT A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis. 16030159 2005
CUI: C4693863
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 		0.600 CausalMutation disease CLINVAR