KL, klotho, 9365

N. diseases: 332; N. variants: 20
Disease: Tumoral calcinosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0263628
Disease: Tumoral calcinosis
Tumoral calcinosis 		0.310 Biomarker disease CTD_human Herein we report a homozygous missense mutation (H193R) in the KLOTHO (KL) gene of a 13-year-old girl who presented with severe tumoral calcinosis with dural and carotid artery calcifications. 17710231 2007
CUI: C0263628
Disease: Tumoral calcinosis
Tumoral calcinosis 		0.310 GeneticVariation disease BEFREE Herein we report a homozygous missense mutation (H193R) in the KLOTHO (KL) gene of a 13-year-old girl who presented with severe tumoral calcinosis with dural and carotid artery calcifications. 17710231 2007