Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606841
rs267606841
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C1876187
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.010 GeneticVariation BEFREE Similarly, the prediction of high damaging behavior, evolutionary conservation and structural destabilization for C574G were proposed as major contributing factors to regulate metabolic disorder underlying tumor calcinosis and hyperostosis-hyperphosphatemia syndrome. 24038392 2014