primary ciliary dyskinesia Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An autosomal recessive genetic disease that causes a defect in the action of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. (Human Disease Ontology, DOID_9562)
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Genes

30 genes involed in the disease primary ciliary dyskinesia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ARMC4 armadillo repeat containing 4
C21ORF59 chromosome 21 open reading frame 59
CCDC103 coiled-coil domain containing 103
CCDC114 coiled-coil domain containing 114
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCDC65 coiled-coil domain containing 65
CCNO cyclin O
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF5 dynein, axonemal, assembly factor 5
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAH8 dynein, axonemal, heavy chain 8
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAL1 dynein, axonemal, light chain 1
DRC1 dynein regulatory complex subunit 1
DYX1C1 dyslexia susceptibility 1 candidate 1
HYDIN HYDIN, axonemal central pair apparatus protein
LRRC6 leucine rich repeat containing 6
NME8 NME/NM23 family member 8
OFD1 oral-facial-digital syndrome 1
RPGR retinitis pigmentosa GTPase regulator
RSPH1 radial spoke head 1 homolog (Chlamydomonas)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
SPAG1 sperm associated antigen 1
ZMYND10 zinc finger, MYND-type containing 10