DCX, doublecortin, 1641

N. diseases: 175; N. variants: 107
Disease: Congenital anomaly of brain ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.010 GeneticVariation group BEFREE Human doublecortin (DCX) mutations are associated with severe brain malformations leading to aberrant neuron positioning (heterotopia), intellectual disability and epilepsy. 28007902 2017