Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2
0.020 GeneticVariation disease BEFREE The expression of Na<sup>+</sup>-K<sup>+</sup>-Cl<sup>-</sup> co-transporter 1 (NKCC1), responsible for the inward transport of chlorine, is not affected, leading to a reduced KCC2/NKCC1 ratio in RTT brains. 31796123 2019
Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2
0.020 Biomarker disease BEFREE The presence of bumetanide sensitive NKCC1 and KCC2 was analysed in cerebrospinal fluid samples from a control pediatric population (1 day to 14 years of life) and from Rett syndrome patients (2 to 19 years of life), by immunoblot analysis. 23894354 2013