SLC8A1, solute carrier family 8 member A1, 6546

N. diseases: 146; N. variants: 24
Disease: Megacolon ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025160
Disease: Megacolon
Megacolon 		0.300 Biomarker phenotype CTD_human Ncx (Enx, Hox11L.1) is required for neuronal cell death in enteric ganglia of mice. 17560225 2007
CUI: C0025160
Disease: Megacolon
Megacolon 		0.300 Biomarker phenotype CTD_human Acetylcholine-related bowel dysmotility in homozygous mutant NCX/HOX11L.1-deficient (NCX-/-) mice-evidence that acetylcholine is implicated in causing intestinal neuronal dysplasia. 15185227 2004