abnormal respiratory motile cilium morphology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms. (Human Phenotype Ontology, HP_0005938)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005938
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Genes

14 genes associated with the abnormal respiratory motile cilium morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CCDC103 coiled-coil domain containing 103
CCDC114 coiled-coil domain containing 114
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF5 dynein, axonemal, assembly factor 5
DNAI1 dynein, axonemal, intermediate chain 1
DNAL1 dynein, axonemal, light chain 1
LRRC6 leucine rich repeat containing 6
NME8 NME/NM23 family member 8
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)