Disease Term Disease ID Gene Symbol References
Familial benign hypercalcemia C1809471 CASR 23077345, 19389809, 8675635, 7726161, 1302026, 27666534, 17974727, 20798521, 22422767, 12095982, 7916660, 20972686, 17284438, 24947037, 1889203, 11763315, 8878438, 20164288, 26963950, 12114500, 16649980, 21521328, 10885494, 21239511, 12580936, 19759318
Hypocalciuric hypercalcemia, familial, type 1 C0342637 CASR 17473068, 9011580, 11763315, 8878438, 12580936, 12095982, 7726161, 28740527, 7916660, 22422767, 9395465, 15579740, 27390877, 8675635, 17284438, 15751724, 21643651, 16740594, 8636323, 20164288, 22620673, 16642557, 19389809, 19423559, 8702647, 26161261, 1302026, 19759318, 23966241, 23077345, 22114145, 26386835, 27434672, 19789209, 17698911, 9298824, 11762699, 17048213, 791660, 12114500, 15879434, 19179454, 22798347, 7717399, 21289269, 7673400, 25766501, 2983592, 25091521, 24947037, 15241688, 23169696, 16598859, 25104082, 20034274, 18751724, 21566075, 15572418, 24203066, 25292184
AP2S1 26082470
Hypocalciuric hypercalcemia C3875492 CASR
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III C1833372 AP2S1 26963950, 24081735, 23222959, 26082470
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) C1840347 GNA11 23802516, 23782177, 26729423
Familial hypocalciuric hypercalcemia type 1 93372 CASR
Familial hypocalciuric hypercalcemia type 2 101049 GNA11
Familial hypocalciuric hypercalcemia type 3 101050 AP2S1