ITPKC, inositol-trisphosphate 3-kinase C, 80271

N. diseases: 12; N. variants: 6
Disease: Hirschsprung Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.010 GeneticVariation disease BEFREE Although this study has limitations (such as lack of functional evaluations, small number of cases, and further need of replication in other cohorts), our findings suggest that genetic variants of ITPKC may have a potential association with HSCR susceptibility and/or developmental diseases related to enteric nervous system development. 28664405 2017