GNA11, G protein subunit alpha 11, 2767

N. diseases: 122; N. variants: 9
Disease: Familial benign hypercalcemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777019
rs587777019
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C1809471
Disease:
Familial benign hypercalcemia 		0.010 GeneticVariation 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