DCTN6, dynactin subunit 6, 10671

N. diseases: 315; N. variants: 4
Disease: Klein's Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.010 Biomarker disease BEFREE Klein-Waardenburg syndrome or Waardenburg syndrome type 3 (WS-III; MIM 148820) is characterized by the presence of musculoskeletal abnormalities in association with clinical features of Waardenburg syndrome type 1 (WS-I). 11683776 2001