KL, klotho, 9365

N. diseases: 332; N. variants: 20
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 		0.600 Biomarker disease MGD N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models. 25860694 2015
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.600 GermlineCausalMutation disease ORPHANET Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho). 22142751 2011
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.600 GermlineCausalMutation disease ORPHANET A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.600 CausalMutation disease CLINVAR