GNA11, G protein subunit alpha 11, 2767

N. diseases: 122; N. variants: 9
Disease: Familial benign hypercalcemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia 		0.070 GeneticVariation disease BEFREE Heterozygous germline loss-of-function Gα<sub>11</sub> mutations cause familial hypocalciuric hypercalcemia type 2 (FHH2), for which effective therapies are currently not available. 28833550 2018
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia 		0.070 GeneticVariation disease BEFREE AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia. 27913609 2017
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia 		0.070 Biomarker disease BEFREE Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia. 28176280 2017
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia 		0.070 GeneticVariation disease BEFREE A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2). 26729423 2016
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia 		0.070 GeneticVariation disease BEFREE Inactivating mutations of the calcium-sensing receptor (CaSR), of the G-protein subunit α11 (GNA11) and of the adaptor-related protein complex 2, sigma 1 subunit (AP2S1) genes are responsible for familial hypocalciuric hypercalcaemia (FHH). 25104082 2014
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia 		0.070 GeneticVariation disease BEFREE The kindred with familial hypocalciuric hypercalcemia type 2 had an in-frame deletion of a conserved Gα11 isoleucine (Ile200del), and one of the nine unrelated patients with familial hypocalciuric hypercalcemia had a missense GNA11 mutation (Leu135Gln). 23802516 2013
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia 		0.070 GeneticVariation disease BEFREE PTH clearly plays a role in maintaining the hypercalcemia of familial benign hypercalcemia (FBH or familial hypocalciuric hypocalcemia). 8445032 1993