Disease Term Disease ID Gene Symbol Classification References Source
Autosomal dominant hypocalcemia 428, C4048195 CASR Causal Pathogenic evidence from ClinVar 9920108, 12733714, 22789683 ClinVar
GNA11 Causal Pathogenic evidence from ClinVar 23802516 ClinVar
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 C3715128 CASR Causal Pathogenic evidence from ClinVar 7874174, 8702647, 8733126, 8813042, 8878438, 9253358, 9661634, 9920108, 10487661, 12050233, 12107202, 12241879, 12574188, 12733714, 12915654, 15551332, 16608894, 17048213, 19179454, 22789683, 23169696, 23966241, 25766501, 28740527 ClinVar
GNA11 Causal Pathogenic evidence from ClinVar 23802516 ClinVar
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME C4552089 CASR Causal Pathogenic evidence from ClinVar 9920108, 12733714, 22789683 ClinVar
GNA11 Causal Pathogenic evidence from ClinVar 23802516 ClinVar
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 C3809243 GNA11 Causal Pathogenic evidence from ClinVar 23782177, 23802516, 26729423 ClinVar