SLC12A5, solute carrier family 12 member 5, 57468

N. diseases: 135; N. variants: 20
Disease: Encephalopathy of Prematurity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3899267
Disease: Encephalopathy of Prematurity
Encephalopathy of Prematurity 		0.010 AlteredExpression disease BEFREE Taken together, these results show that reduced expression of KCC2, lumbar hyperreflexia, spasticity, altered properties of the soleus muscle, as well as cortical hyperexcitability may likely interplay into a self-perpetuating cycle, leading to the emergence, and persistence of neurodevelopmental disorders (NDD) in EP and CP, such as sensorimotor impairments, and probably hyperactivity, attention, and learning disorders. 29973904 2018