Disease: Linear atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		0.030 AlteredExpression disease BEFREE Other pathologies similar to those arising from known deafness gene mutations include downregulation of KCNQ1 protein expression in the stria vascularis, as well as hypoplastic and dysmorphic melanocytes. 23281115 2013
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		0.030 GeneticVariation disease BEFREE The KCNQ1 and KCNE1 proteins coassemble in a potassium channel, and mutations in either the KCNQ1 gene or the KCNE1 gene disrupt endolymph production in the stria vascularis in the cochlea, causing deafness. 10704188 1999
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		0.030 AlteredExpression disease BEFREE We found that KVLQT1 is expressed in the stria vascularis of mouse inner ear by in situ hybridization. 9020846 1997