Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Pseudopseudohypoparathyroidism GNAS disease C0033835 GeneticVariation 1 orphanet , disgenet
Pseudopseudohypoparathyroidism GNAS disease C0033835 Biomarker 1 orphanet , disgenet
Pseudopseudohypoparathyroidism GNAS disease C0033835 CausalMutation 1 orphanet , disgenet
Pseudopseudohypoparathyroidism GNAS disease C0033835 GermlineCausalMutation 1 orphanet , disgenet
Pseudopseudohypoparathyroidism PTH disease C0033835 Biomarker 0.1 disgenet
Pseudopseudohypoparathyroidism COASY disease C0033835 GeneticVariation 0.03 disgenet
Pseudopseudohypoparathyroidism COASY disease C0033835 Biomarker 0.03 disgenet
Pseudopseudohypoparathyroidism PHPT1 disease C0033835 GeneticVariation 0.02 disgenet
Pseudopseudohypoparathyroidism ASAH1 disease C0033835 GeneticVariation 0.02 disgenet
Pseudopseudohypoparathyroidism PHPT1 disease C0033835 Biomarker 0.02 disgenet
Pseudopseudohypoparathyroidism SOX3 disease C0033835 GeneticVariation 0.02 disgenet
Pseudopseudohypoparathyroidism SOX3 disease C0033835 Biomarker 0.02 disgenet
Pseudopseudohypoparathyroidism ASAH1 disease C0033835 Biomarker 0.02 disgenet
Pseudopseudohypoparathyroidism APRT disease C0033835 GeneticVariation 0.02 disgenet
Pseudopseudohypoparathyroidism MFAP1 disease C0033835 Biomarker 0.02 disgenet
Pseudopseudohypoparathyroidism APRT disease C0033835 Biomarker 0.02 disgenet
Pseudopseudohypoparathyroidism MFAP1 disease C0033835 GeneticVariation 0.02 disgenet
Pseudopseudohypoparathyroidism GHRH disease C0033835 Biomarker 0.01 disgenet
Pseudopseudohypoparathyroidism STK25 disease C0033835 Biomarker 0.01 disgenet
Pseudopseudohypoparathyroidism STK24 disease C0033835 Biomarker 0.01 disgenet
Pseudopseudohypoparathyroidism HCAR3 disease C0033835 Biomarker 0.01 disgenet
Pseudopseudohypoparathyroidism CALCA disease C0033835 GeneticVariation 0.01 disgenet
Pseudopseudohypoparathyroidism GH1 disease C0033835 Biomarker 0.01 disgenet
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