MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Congenital anomaly of face ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.010 GeneticVariation group BEFREE Finally, complete deletions of the MAPT gene have been associated with mental retardation, hypotonia and facial dysmorphism. 22817714 2012