Hypocalciuric hypercalcemia

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