SLC12A5, solute carrier family 12 member 5, 57468

N. diseases: 135; N. variants: 20
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		0.010 AlteredExpression disease BEFREE These results suggest a pathway in which WNK1/HSN2 interacts with KCC2, producing a novel regulation of its transcription independent of KCC2's activation, where a loss-of-function mutation in WNK1 induces an overexpression of KCC2 and hinders proper peripheral sensory nerve development, a hallmark of HSANII. 23300475 2013