Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6
0.130 GeneticVariation disease BEFREE KCC3 mutations have been associated with hereditary motor and sensory polyneuropathy with corpus callosum agenesis (Andermann syndrome) that often manifests with epileptic seizures. 20352446 2010
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6
0.130 GeneticVariation disease BEFREE The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. 12368912 2002
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6
0.130 GeneticVariation disease BEFREE Peripheral neuropathy with or without agenesis of the corpus callosum (ACCPN [MIM 2180000]) is an autosomal recessive disease characterised by progressive sensorimotor neuropathy, mental retardation, dysmorphic features and complete or partial agenesis of the corpus callosum. 12107814 2002
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6
0.130 Biomarker disease HPO
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6
0.130 GeneticVariation disease CLINVAR