DNAH5, dynein axonemal heavy chain 5, 1767

N. diseases: 93; N. variants: 137
Disease: Overgrowth ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302 2013
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118 2009
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867 2006
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Lateralization defects and ciliary dyskinesia: lessons from algae. 12615011 2003
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 11788826 2002