Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hypercalciuric Hypocalcemia, Familial CASR disease C0342345 CausalMutation 0.19 orphanet , disgenet
Hypercalciuric Hypocalcemia, Familial CASR disease C0342345 AlteredExpression 0.19 orphanet , disgenet
Hypercalciuric Hypocalcemia, Familial CASR disease C0342345 GeneticVariation 0.19 orphanet , disgenet
Hypercalciuric Hypocalcemia, Familial PTH disease C0342345 GeneticVariation 0.03 orphanet , disgenet
Hypercalciuric Hypocalcemia, Familial GCM2 disease C0342345 GeneticVariation 0.03 orphanet , disgenet
Hypercalciuric Hypocalcemia, Familial PTH disease C0342345 Biomarker 0.03 orphanet , disgenet
Hypercalciuric Hypocalcemia, Familial GCM2 disease C0342345 Biomarker 0.03 orphanet , disgenet
Hypercalciuric Hypocalcemia, Familial CXADR disease C0342345 GeneticVariation 0.02 disgenet
Hypercalciuric Hypocalcemia, Familial SPG7 disease C0342345 GeneticVariation 0.02 disgenet
Hypercalciuric Hypocalcemia, Familial CXADRP1 disease C0342345 GeneticVariation 0.02 disgenet
Hypercalciuric Hypocalcemia, Familial TRIM13 disease C0342345 GeneticVariation 0.02 disgenet
Hypercalciuric Hypocalcemia, Familial ARR3 disease C0342345 GeneticVariation 0.02 disgenet
Hypercalciuric Hypocalcemia, Familial NR1I3 disease C0342345 GeneticVariation 0.02 disgenet
Hypercalciuric Hypocalcemia, Familial PRKAR1A disease C0342345 GeneticVariation 0.02 disgenet
Hypercalciuric Hypocalcemia, Familial ESR1 disease C0342345 Biomarker 0.01 disgenet
Hypercalciuric Hypocalcemia, Familial GATA3 disease C0342345 AlteredExpression 0.01 disgenet
Hypercalciuric Hypocalcemia, Familial GNA11 NA C0342345 NA NA orphanet
Hypercalciuric Hypocalcemia, Familial AIRE NA C0342345 NA NA orphanet
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