KL, klotho, 9365

N. diseases: 332; N. variants: 20
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908423
rs121908423
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C4693864
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 		0.800 GeneticVariation UNIPROT A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007
dbSNP: rs121908423
rs121908423
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C4693864
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 		G 0.800 GeneticVariation CLINVAR A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007