ADRB2, adrenoceptor beta 2, 154

N. diseases: 387; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
0.010 GeneticVariation disease BEFREE Despite the fact that mutations were described in genes encoding ion channels in familial hypokalaemic periodic paralysis, no definite genetic variants were found in TPP. beta2-adrenergic receptors (ADRB2s) are expressed in skeletal muscle and stimulate the sodium pump. 15853829 2005