rs201858689, CASR

N. diseases: 3
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HYPERPARATHYROIDISM, NEONATAL SEVERE
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
0.700 CausalMutation CLINVAR A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder. 24854525 2014