Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.800 Biomarker disease MGD A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis. 22912827 2012
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.800 GermlineCausalMutation disease ORPHANET Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. 21347749 2011
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.800 Biomarker disease MGD Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression. 19213845 2009
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.800 CausalMutation disease CLINVAR A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. 15687324 2005
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.800 CausalMutation disease CLINVAR Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. 15133511 2004
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. 15133511 2004
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.800 GermlineCausalMutation disease ORPHANET Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. 15133511 2004