rs752807925, SLC26A4

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
0.700 GeneticVariation CLINVAR Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum. 24612839 2014
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
0.700 GeneticVariation CLINVAR Genetic counseling and prenatal diagnosis for hereditary hearing loss in high-risk families. 24913939 2014
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
0.700 GeneticVariation CLINVAR Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. 23918157 2013
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
0.700 GeneticVariation CLINVAR Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct. 22289209 2012
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
0.700 GeneticVariation CLINVAR Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. 21961810 2011
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.700 CausalMutation CLINVAR
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.700 CausalMutation CLINVAR