FKTN, fukutin, 2218

N. diseases: 211; N. variants: 37
Disease: Congenital cerebral hernia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.110 GeneticVariation disease BEFREE In the fetus with ventriculomegaly with encephalocele c.1167dupA mutation in the FKTN gene, in the fetus with severe polyhydramnion c.167ins6[TTTCCC] mutation in the BSND gene, and in the fetus with enlarged echogenic kidneys, c.3761_3762delCCinsG in the PKHD1 gene were identified. 29327352 2018
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.110 Biomarker disease HPO