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 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
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 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 counseling and prenatal diagnosis for hereditary hearing loss in high-risk families. 24913939 2014
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