Disease: Calcinosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006663
Disease: Calcinosis
Calcinosis 		0.430 GeneticVariation phenotype LHGDN Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family. 18618993 2008
CUI: C0006663
Disease: Calcinosis
Calcinosis 		0.430 GeneticVariation phenotype LHGDN Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. 17351710 2007
CUI: C0006663
Disease: Calcinosis
Calcinosis 		0.430 Biomarker phenotype CTD_human A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007
CUI: C0006663
Disease: Calcinosis
Calcinosis 		0.430 Biomarker phenotype LHGDN Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. 15133511 2004
CUI: C0006663
Disease: Calcinosis
Calcinosis 		0.430 Biomarker phenotype HPO