SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Disease: Deformity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0302142
Disease: Deformity
Deformity 		0.050 GeneticVariation group BEFREE All subjects except for two in the SLC26A4 group had concurrent Mondini malformation and enlarged vestibular aqueduct. 31124793 2020
CUI: C0302142
Disease: Deformity
Deformity 		0.050 GeneticVariation group BEFREE The most common malformation found in cases with EVA was incomplete partition type II (IP-II; 90.4%). 31124731 2019
CUI: C0302142
Disease: Deformity
Deformity 		0.050 GeneticVariation group BEFREE Cochlear malformation was a consistent finding among siblings with the same SLC26A4 mutations. 24338212 2014
CUI: C0302142
Disease: Deformity
Deformity 		0.050 GeneticVariation group BEFREE These results suggest that homozygous mutations in SLC26A4 are always associated with EVA, while the severity of cochlear malformation may vary depending on the type of SLC26A4 mutation. 25468468 2014
CUI: C0302142
Disease: Deformity
Deformity 		0.050 Biomarker group BEFREE The finding of a single heterozygous mutation at the PDS gene in a further eight was strongly suggestive of a critical role for pendrin, the protein product of the PDS gene, in the generation of enlarged vestibular aqueducts in at least 86% (49/57 cases) of patients with this radiological malformation. 10700480 2000