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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
CILIARY DYSKINESIA, PRIMARY, 6 NME8 Unknown — CTD, Disgenet, HPO —
CILIARY DYSKINESIA, PRIMARY, 7 CDCA7L Unknown — Disgenet —
CILIARY DYSKINESIA, PRIMARY, 9 DNAI2 Unknown — CTD, Disgenet, HPO
CILIARY MOTILITY DISORDERS AK7 Unknown — Disgenet
BRWD1 Unknown — Disgenet
CDCA7L Unknown — Disgenet —
CFAP221 Unknown — Disgenet —
CFAP300 Unknown — Disgenet —
CFAP43 Unknown — Disgenet —
CFAP57 Unknown — Disgenet —
CFAP74 Unknown — Disgenet —
CLXN Unknown — Disgenet —
CYBB Unknown — Disgenet
DNAAF6 Unknown — Disgenet —
DNAH1 Unknown — Disgenet
DNAH10 Unknown — Disgenet
DNAH6 Unknown — Disgenet
DNAH8 Unknown — Disgenet
DNAH9 Unknown — Disgenet
DNAI2 Unknown — Disgenet
FOXJ1 Unknown — Disgenet —
IFT122 Unknown CTD, Disgenet
IFT74 Unknown — Disgenet
INPP5E Unknown CTD, Disgenet
LRRC56 Unknown — Disgenet —
MNS1 Unknown — Disgenet —
NEK10 Unknown — Disgenet —
NME5 Unknown — Disgenet —
NME8 Unknown — Disgenet —
OFD1 Unknown — Disgenet
RAG1 Unknown — Disgenet
RPGR Unknown — Disgenet —
RPGRIP1L Unknown CTD, Disgenet
SPEF2 Unknown — Disgenet —
STK36 Unknown — Disgenet —
TEKT1 Unknown — Disgenet —
TNNI3 Unknown — Disgenet
TP73 Unknown — Disgenet
TTC12 Unknown — Disgenet —
PRIMARY CILIARY DYSKINESIA AK7 Unknown — ClinGen, GenCC
BRWD1 Unknown ClinGen, Orphanet
CFAP43 Unknown — ClinGen —
CFAP74 Unknown Disgenet, Orphanet —
CLXN Unknown Orphanet —
DNAH10 Unknown ClinGen, GenCC
DNAH14 Unknown — ClinGen
DNAH6 Unknown — ClinGen
FOXJ1 Unknown Disgenet, GWAS catalog, Orphanet —
IFT74 Unknown CTD
LRRC56 Unknown Disgenet, GWAS catalog, Orphanet —
MNS1 Unknown — ClinGen —
NEK10 Unknown Disgenet, GWAS catalog, Orphanet —
NME5 Unknown Disgenet, Orphanet —
NME8 Unknown Disgenet, GWAS catalog, Orphanet —
STK36 Unknown Disgenet, Orphanet —
TEKT1 Unknown — ClinGen —
TTC12 Unknown Disgenet, GWAS catalog, Orphanet —
PRIMARY CILIARY DYSKINESIA 6 NME8 Unknown — ClinGen, ClinVar, GenCC —
All90 Causal58 Unknown87