Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Pseudohypoparathyroidism GNAS disease C0033806 GeneticVariation 0.7 orphanet , disgenet
Pseudohypoparathyroidism GNAS disease C0033806 PosttranslationalModification 0.7 orphanet , disgenet
Pseudohypoparathyroidism GNAS disease C0033806 Biomarker 0.7 orphanet , disgenet
Pseudohypoparathyroidism GNAS disease C0033806 AlteredExpression 0.7 orphanet , disgenet
Pseudohypoparathyroidism STX16 disease C0033806 Biomarker 0.15 disgenet
Pseudohypoparathyroidism STX16 disease C0033806 GeneticVariation 0.15 disgenet
Pseudohypoparathyroidism PDE4D disease C0033806 Biomarker 0.13 disgenet
Pseudohypoparathyroidism PDE4D disease C0033806 GeneticVariation 0.13 disgenet
Pseudohypoparathyroidism PRKAR1A disease C0033806 Biomarker 0.12 disgenet
Pseudohypoparathyroidism PRKAR1A disease C0033806 GeneticVariation 0.12 disgenet
Pseudohypoparathyroidism PRMT7 disease C0033806 Biomarker 0.11 disgenet
Pseudohypoparathyroidism GNAS-AS1 disease C0033806 Biomarker 0.11 disgenet
Pseudohypoparathyroidism PRMT7 disease C0033806 GeneticVariation 0.11 disgenet
Pseudohypoparathyroidism PTH disease C0033806 AlteredExpression 0.1 disgenet
Pseudohypoparathyroidism PTH disease C0033806 Biomarker 0.1 disgenet
Pseudohypoparathyroidism PTH disease C0033806 GeneticVariation 0.1 disgenet
Pseudohypoparathyroidism ASAH1 disease C0033806 Biomarker 0.07 disgenet
Pseudohypoparathyroidism SOX3 disease C0033806 GeneticVariation 0.07 disgenet
Pseudohypoparathyroidism ASAH1 disease C0033806 GeneticVariation 0.07 disgenet
Pseudohypoparathyroidism SOX3 disease C0033806 Biomarker 0.07 disgenet
Pseudohypoparathyroidism PHPT1 disease C0033806 Biomarker 0.07 disgenet
Pseudohypoparathyroidism PHPT1 disease C0033806 GeneticVariation 0.07 disgenet
Pseudohypoparathyroidism COASY disease C0033806 AlteredExpression 0.05 disgenet
Pseudohypoparathyroidism COASY disease C0033806 GeneticVariation 0.05 disgenet
Pseudohypoparathyroidism COASY disease C0033806 Biomarker 0.05 disgenet
Pseudohypoparathyroidism PTHLH disease C0033806 GeneticVariation 0.03 disgenet
Pseudohypoparathyroidism PTHLH disease C0033806 Biomarker 0.03 disgenet
Pseudohypoparathyroidism HCAR3 disease C0033806 GeneticVariation 0.03 disgenet
Pseudohypoparathyroidism HCAR3 disease C0033806 Biomarker 0.03 disgenet
Pseudohypoparathyroidism GHRH disease C0033806 Biomarker 0.02 disgenet
Pseudohypoparathyroidism APRT disease C0033806 Biomarker 0.02 disgenet
Pseudohypoparathyroidism MFAP1 disease C0033806 Biomarker 0.02 disgenet
Pseudohypoparathyroidism CALCA disease C0033806 AlteredExpression 0.02 disgenet
Pseudohypoparathyroidism CALCA disease C0033806 GeneticVariation 0.02 disgenet
Pseudohypoparathyroidism MC4R disease C0033806 Biomarker 0.01 disgenet
Pseudohypoparathyroidism STK25 disease C0033806 Biomarker 0.01 disgenet
Pseudohypoparathyroidism ADRA1A disease C0033806 Biomarker 0.01 disgenet
Pseudohypoparathyroidism ADRA2B disease C0033806 Biomarker 0.01 disgenet
Pseudohypoparathyroidism BRD2 disease C0033806 GeneticVariation 0.01 disgenet
Pseudohypoparathyroidism HPT disease C0033806 Biomarker 0.01 disgenet
Pseudohypoparathyroidism PDGFB disease C0033806 GeneticVariation 0.01 disgenet
Pseudohypoparathyroidism GPR42 disease C0033806 Biomarker 0.01 disgenet
Pseudohypoparathyroidism TRH disease C0033806 Biomarker 0.01 disgenet
Pseudohypoparathyroidism ACKR3 disease C0033806 Biomarker 0.01 disgenet
Pseudohypoparathyroidism EDNRA disease C0033806 Biomarker 0.01 disgenet
Pseudohypoparathyroidism SSTR4 disease C0033806 Biomarker 0.01 disgenet
Pseudohypoparathyroidism GH1 disease C0033806 Biomarker 0.01 disgenet
Pseudohypoparathyroidism SNU13 disease C0033806 GeneticVariation 0.01 disgenet
Pseudohypoparathyroidism BRS3 disease C0033806 Biomarker 0.01 disgenet
Pseudohypoparathyroidism LPAR2 disease C0033806 Biomarker 0.01 disgenet
Pseudohypoparathyroidism CXCR6 disease C0033806 Biomarker 0.01 disgenet
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