Gene: GNA11 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2767
Gene Symbol: GNA11
GNA11 		0.150 GeneticVariation disease BEFREE Thus, our studies, which report a novel Gα<sub>11</sub> germline mutation (Phe220Ser) in a family with FHH2, reveal the importance of the Gα<sub>11</sub> hydrophobic cleft region for CaSR-mediated activation of PLC, and show that allosteric CaSR modulation can rectify the loss-of-function Phe220Ser mutation and ameliorate the hypercalcemia associated with FHH2.© 2017 The Authors. 28833550 2018
Entrez Id: 2767
Gene Symbol: GNA11
GNA11 		0.150 Biomarker disease BEFREE FHH2 is characterized by hypercalcemia, inappropriately normal or raised parathyroid hormone (PTH) concentrations, and normal or low urinary calcium excretion. 29046478 2017
Entrez Id: 2767
Gene Symbol: GNA11
GNA11 		0.150 GeneticVariation disease BEFREE Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 23802516 2013
Entrez Id: 2767
Gene Symbol: GNA11
GNA11 		0.150 Biomarker disease BEFREE PTH clearly plays a role in maintaining the hypercalcemia of familial benign hypercalcemia (FBH or familial hypocalciuric hypocalcemia). 8445032 1993
Entrez Id: 2767
Gene Symbol: GNA11
GNA11 		0.150 Biomarker disease BEFREE FBH is characterized by symptomless hypercalcemia, low urinary calcium excretion, normal iPTH values, generally normal parathyroid histology, and failure of subtotal parathyroidectomy is normalize serum calcium. 6253580 1980
Entrez Id: 2767
Gene Symbol: GNA11
GNA11 		0.150 Biomarker disease HPO