DNAAF1, dynein axonemal assembly factor 1, 123872

N. diseases: 64; N. variants: 20
Disease: Situs ambiguus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.010 GeneticVariation disease BEFREE We identified a homozygous DNAAF1 missense mutation, p.Leu191Phe, as causative for heterotaxy in this family. 29228333 2018