CLIC2, chloride intracellular channel 2, 1193

N. diseases: 39; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1720983
Disease: Channelopathies
Channelopathies
0.020 GeneticVariation disease BEFREE The results show that FKBPs do influence RyR gating and would contribute to excess Ca<sup>2+</sup> release in this CLIC2 RyR channelopathy. 28851804 2017
CUI: C1720983
Disease: Channelopathies
Channelopathies
0.020 GeneticVariation disease BEFREE An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. 22814392 2012