KL, klotho, 9365

N. diseases: 332; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
0.600 GeneticVariation disease CLINVAR A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
0.600 GeneticVariation disease UNIPROT A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
0.600 Biomarker disease GENOMICS_ENGLAND A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007