Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Tumoral Calcinosis, Hyperphosphatemic, Familial GALNT3 disease C1876187 Biomarker 0.8 orphanet , disgenet
Tumoral Calcinosis, Hyperphosphatemic, Familial GALNT3 disease C1876187 GeneticVariation 0.8 orphanet , disgenet
Tumoral Calcinosis, Hyperphosphatemic, Familial GALNT3 disease C1876187 GermlineCausalMutation 0.8 orphanet , disgenet
Tumoral Calcinosis, Hyperphosphatemic, Familial GALNT3 disease C1876187 AlteredExpression 0.8 orphanet , disgenet
Tumoral Calcinosis, Hyperphosphatemic, Familial KL disease C1876187 GermlineCausalMutation 0.54 orphanet , disgenet
Tumoral Calcinosis, Hyperphosphatemic, Familial KL disease C1876187 GeneticVariation 0.54 orphanet , disgenet
Tumoral Calcinosis, Hyperphosphatemic, Familial KL disease C1876187 Biomarker 0.54 orphanet , disgenet
Tumoral Calcinosis, Hyperphosphatemic, Familial FGF23 disease C1876187 Biomarker 0.5 orphanet , disgenet
Tumoral Calcinosis, Hyperphosphatemic, Familial FGF23 disease C1876187 AlteredExpression 0.5 orphanet , disgenet
Tumoral Calcinosis, Hyperphosphatemic, Familial FGF23 disease C1876187 GermlineCausalMutation 0.5 orphanet , disgenet
Tumoral Calcinosis, Hyperphosphatemic, Familial FGF23 disease C1876187 GeneticVariation 0.5 orphanet , disgenet
Tumoral Calcinosis, Hyperphosphatemic, Familial CHSY3 disease C1876187 GeneticVariation 0.02 disgenet
Tumoral Calcinosis, Hyperphosphatemic, Familial GLUD1 disease C1876187 GeneticVariation 0.02 disgenet
Tumoral Calcinosis, Hyperphosphatemic, Familial IL1B disease C1876187 Biomarker 0.01 disgenet
Tumoral Calcinosis, Hyperphosphatemic, Familial IL1A disease C1876187 Biomarker 0.01 disgenet
Tumoral Calcinosis, Hyperphosphatemic, Familial IL6 disease C1876187 Biomarker 0.01 disgenet
Tumoral Calcinosis, Hyperphosphatemic, Familial MTG1 disease C1876187 GeneticVariation 0.01 disgenet
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