Disease: Pendred's syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.340 GeneticVariation disease BEFREE Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. 23965030 2013
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.340 GeneticVariation disease BEFREE We also used this approach to scan for mutations in KCNJ10 and FOXI1, two genes reported to play a role in the pathogenesis of Pendred syndrome and enlarged vestibular aqueduct. 21366435 2011
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.340 Biomarker disease BEFREE Together, these data suggest that SLC26A4, FOXI1 and KCNJ10 are not major determinants in unilateral deafness and enlarged vestibular aqueduct compared with their implication in Pendred syndrome and non-syndromic bilateral enlarged vestibular aqueduct. 20621367 2010
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.340 GeneticVariation disease BEFREE Our results link KCNJ10 mutations with EVA/PS and provide further support for the model of EVA/PS as a multigenic complex disease. 19426954 2009
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.340 Biomarker disease CTD_human