Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		dynein axonemal heavy chain 5 0.590 0.692 4.9E-64
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3 		disease 0.900 None 1.000 17 19 2000 2016
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		dynein axonemal heavy chain 5 0.590 0.692 4.9E-64
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.310 None 1.000 21 122 1990 2016
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		dynein axonemal heavy chain 5 0.590 0.692 4.9E-64
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 6 4 2002 2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		dynein axonemal heavy chain 5 0.590 0.692 4.9E-64
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 6 1 2002 2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		dynein axonemal heavy chain 5 0.590 0.692 4.9E-64
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 6 2 2002 2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		dynein axonemal heavy chain 5 0.590 0.692 4.9E-64
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 6 1 2002 2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		dynein axonemal heavy chain 5 0.590 0.692 4.9E-64
CUI: C4025100
Disease: Abnormal respiratory motile cilium morphology
Abnormal respiratory motile cilium morphology 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		dynein axonemal heavy chain 5 0.590 0.692 4.9E-64
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		dynein axonemal heavy chain 5 0.590 0.692 4.9E-64
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.100 None 1.000 1 3 2013 2013