CLIC2, chloride intracellular channel 2, 1193

N. diseases: 39; N. variants: 1
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype BEFREE Since the dysfunction of RyR2 channels in the brain via 'leaky mutations' can result in mild developmental delay and seizures, our data also suggest a vital role for the CLIC2 protein in maintaining normal cognitive function via its interaction with RyRs in the brain. 22814392 2012
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO