GNA11, G protein subunit alpha 11, 2767

N. diseases: 122; N. variants: 9
Disease: Hypocalcemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.140 GeneticVariation phenotype BEFREE This identified a novel heterozygous germline Val340Met Gα11 mutation in both individuals, and this was also present in the other two relatives with hypocalcemia that were tested. 26818911 2016
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.140 GeneticVariation phenotype BEFREE Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 23802516 2013
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.140 Biomarker phenotype BEFREE PTH clearly plays a role in maintaining the hypercalcemia of familial benign hypercalcemia (FBH or familial hypocalciuric hypocalcemia). 8445032 1993
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.140 Biomarker phenotype BEFREE EDTA-induced hypocalcemia raised serum iPTH and UcAMP in all three groups; the increases of iPTH (two assays of differing specificity) were greatest in 1 omicron HPT and least in FBH. 6253580 1980
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.140 Biomarker phenotype HPO