CLRN1, clarin 1, 7401

N. diseases: 77; N. variants: 26
Disease: USHER SYNDROME, TYPE IC ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848604
Disease: USHER SYNDROME, TYPE IC
USHER SYNDROME, TYPE IC 		0.010 Biomarker disease BEFREE Protein-protein interaction assays revealed interactions between clarin-1 and the synaptic CaV1.3 Ca2+ channel complex via the Cavβ2 auxiliary subunit and the PDZ domain-containing protein harmonin (defective in Usher syndrome type IC). 29985171 2018