SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Disease: Sensory hearing loss ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1691779
Disease: Sensory hearing loss
Sensory hearing loss 		0.300 Biomarker disease CTD_human The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients. 17322586 2006
CUI: C1691779
Disease: Sensory hearing loss
Sensory hearing loss 		0.300 Biomarker disease CTD_human Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome. 16053392 2005
CUI: C1691779
Disease: Sensory hearing loss
Sensory hearing loss 		0.300 Biomarker disease CTD_human Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct. 15279074 2004