Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hyperparathyroidism, Neonatal Severe Primary CASR disease C1832615 CausalMutation 0.8 orphanet , disgenet
Hyperparathyroidism, Neonatal Severe Primary CASR disease C1832615 GeneticVariation 0.8 orphanet , disgenet
Hyperparathyroidism, Neonatal Severe Primary CASR disease C1832615 Biomarker 0.8 orphanet , disgenet
Hyperparathyroidism, Neonatal Severe Primary CASR disease C1832615 AlteredExpression 0.8 orphanet , disgenet
Hyperparathyroidism, Neonatal Severe Primary CASR disease C1832615 GermlineCausalMutation 0.8 orphanet , disgenet
Hyperparathyroidism, Neonatal Severe Primary TRPV6 disease C1832615 GermlineCausalMutation 0.3 orphanet , disgenet
Hyperparathyroidism, Neonatal Severe Primary PTH disease C1832615 Biomarker 0.05 disgenet
Hyperparathyroidism, Neonatal Severe Primary PTH disease C1832615 AlteredExpression 0.05 disgenet
Hyperparathyroidism, Neonatal Severe Primary GNA11 disease C1832615 Biomarker 0.02 disgenet
Hyperparathyroidism, Neonatal Severe Primary MEN1 disease C1832615 GeneticVariation 0.01 disgenet
Hyperparathyroidism, Neonatal Severe Primary CXADRP1 disease C1832615 Biomarker 0.01 disgenet
Hyperparathyroidism, Neonatal Severe Primary CXADR disease C1832615 Biomarker 0.01 disgenet
Hyperparathyroidism, Neonatal Severe Primary TRIM13 disease C1832615 Biomarker 0.01 disgenet
Hyperparathyroidism, Neonatal Severe Primary ARR3 disease C1832615 Biomarker 0.01 disgenet
Hyperparathyroidism, Neonatal Severe Primary SPG7 disease C1832615 Biomarker 0.01 disgenet
Hyperparathyroidism, Neonatal Severe Primary NR1I3 disease C1832615 Biomarker 0.01 disgenet
Hyperparathyroidism, Neonatal Severe Primary IDS disease C1832615 Biomarker 0.01 disgenet
Hyperparathyroidism, Neonatal Severe Primary PRKAR1A disease C1832615 Biomarker 0.01 disgenet
Hyperparathyroidism, Neonatal Severe Primary HPT disease C1832615 Biomarker 0.01 disgenet
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