Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C4025100
Disease: Abnormal respiratory motile cilium morphology
Abnormal respiratory motile cilium morphology 		0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.100 CausalMutation CLINVAR Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. 23477994

2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867

2006
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867

2006
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867

2006
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867

2006