CCDC39 (coiled-coil domain 39 molecular ruler complex subunit)

Gene

• Entrez ID: 339829
• Gene name: Coiled-coil domain 39 molecular ruler complex subunit
• Gene symbol: CCDC39
• Synonyms (NCBI Gene): CFAP59, CILD14, FAP59
• Chromosome: 3
• Chromosome location: 3q26.33
• Summary: The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of pri

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140505857	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs200089274	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs201780665	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, stop gained
rs376782159	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained, synonymous variant
rs397515392	C>G	Pathogenic	Splice donor variant
rs551191744	G>-	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs577069249	T>C	Pathogenic	Intron variant
rs587778820	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778822	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs747980515	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant
rs753580394	C>T	Pathogenic	Splice donor variant
rs756235547	T>C	Pathogenic	Splice acceptor variant
rs758482424	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs769223754	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs772219642	G>T	Pathogenic	Coding sequence variant, stop gained
rs773801386	GT>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs778577109	G>A	Pathogenic	Coding sequence variant, stop gained
rs780175755	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs863224531	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs878855279	TTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs878855280	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796360	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1210953680	A>T	Pathogenic, likely-pathogenic	Splice donor variant
rs1256848235	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1275367324	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1285431486	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1415346246	AACT>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1553803540	C>T	Pathogenic	Splice donor variant
rs1553804100	T>C	Likely-pathogenic	Intron variant
rs1553804209	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553804220	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553804640	C>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1553805740	->GT	Pathogenic	Frameshift variant, coding sequence variant
rs1553805885	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1560086701	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1560090006	AGTGGCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1560092160	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1560092440	A>T	Pathogenic	Stop gained, coding sequence variant
rs1576941580	A>-	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023078	hsa-miR-124-3p	Microarray	18668037
MIRT712571	hsa-miR-4709-5p	HITS-CLIP	19536157
MIRT712570	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT712569	hsa-miR-421	HITS-CLIP	19536157
MIRT712568	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT712571	hsa-miR-4709-5p	HITS-CLIP	19536157
MIRT712570	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT712569	hsa-miR-421	HITS-CLIP	19536157
MIRT712568	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT712571	hsa-miR-4709-5p	HITS-CLIP	19536157
MIRT712570	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT712569	hsa-miR-421	HITS-CLIP	19536157
MIRT712568	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT712571	hsa-miR-4709-5p	HITS-CLIP	19536157
MIRT712570	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT712569	hsa-miR-421	HITS-CLIP	19536157
MIRT712568	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613239	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT613237	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT613238	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT613236	hsa-miR-1208	HITS-CLIP	23824327
MIRT613234	hsa-miR-8064	HITS-CLIP	23824327
MIRT613235	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT613233	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT613232	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT613231	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT613230	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT613229	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT613228	hsa-miR-133b	HITS-CLIP	23824327
MIRT613227	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613226	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613225	hsa-miR-507	HITS-CLIP	23824327
MIRT613224	hsa-miR-557	HITS-CLIP	23824327
MIRT613223	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT868878	hsa-miR-1275	CLIP-seq
MIRT868879	hsa-miR-129-5p	CLIP-seq
MIRT868880	hsa-miR-342-5p	CLIP-seq
MIRT868881	hsa-miR-4260	CLIP-seq
MIRT868882	hsa-miR-4651	CLIP-seq
MIRT868883	hsa-miR-4664-5p	CLIP-seq
MIRT868884	hsa-miR-4665-5p	CLIP-seq
MIRT868885	hsa-miR-608	CLIP-seq
MIRT1957819	hsa-miR-3132	CLIP-seq
MIRT868880	hsa-miR-342-5p	CLIP-seq
MIRT868882	hsa-miR-4651	CLIP-seq
MIRT868883	hsa-miR-4664-5p	CLIP-seq
MIRT868885	hsa-miR-608	CLIP-seq
MIRT2194852	hsa-miR-25	CLIP-seq
MIRT2194853	hsa-miR-32	CLIP-seq
MIRT2194854	hsa-miR-363	CLIP-seq
MIRT2194855	hsa-miR-367	CLIP-seq
MIRT2194856	hsa-miR-513a-3p	CLIP-seq
MIRT2194857	hsa-miR-518a-5p	CLIP-seq
MIRT2194858	hsa-miR-527	CLIP-seq
MIRT2194859	hsa-miR-92a	CLIP-seq
MIRT2194860	hsa-miR-92b	CLIP-seq
MIRT868879	hsa-miR-129-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001947	Process	Heart looping	IMP	22693285
GO:0003341	Process	Cilium movement	IEA
GO:0003341	Process	Cilium movement	IMP	22499950
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0003356	Process	Regulation of cilium beat frequency	IMP	23255504
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	27120127
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IDA	21131972, 21131974, 26387594
GO:0005930	Component	Axoneme	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007420	Process	Brain development	IEA
GO:0007507	Process	Heart development	IEA
GO:0014004	Process	Microglia differentiation	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022010	Process	Central nervous system myelination	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	23255504
GO:0030324	Process	Lung development	IMP	22693285
GO:0035469	Process	Determination of pancreatic left/right asymmetry	IMP	22693285
GO:0036159	Process	Inner dynein arm assembly	IBA
GO:0036159	Process	Inner dynein arm assembly	IEA
GO:0036159	Process	Inner dynein arm assembly	IEA
GO:0036159	Process	Inner dynein arm assembly	IMP	23255504
GO:0040011	Process	Locomotion	IEA
GO:0042551	Process	Neuron maturation	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044458	Process	Motile cilium assembly	IMP	23255504
GO:0048812	Process	Neuron projection morphogenesis	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060074	Process	Synapse maturation	IEA
GO:0060285	Process	Cilium-dependent cell motility	IBA
GO:0060285	Process	Cilium-dependent cell motility	IMP	21131972
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IBA
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IMP	21131972
GO:0061512	Process	Protein localization to cilium	IEA
GO:0061966	Process	Establishment of left/right asymmetry	IEA
GO:0070286	Process	Axonemal dynein complex assembly	IMP	21131972
GO:0071907	Process	Determination of digestive tract left/right asymmetry	IMP	22693285
GO:0071910	Process	Determination of liver left/right asymmetry	IMP	22693285
GO:0090660	Process	Cerebrospinal fluid circulation	IEA
GO:0150076	Process	Neuroinflammatory response	IEA

Other IDs

• MIM: 613798
• HGNC: 25244
• e!Ensembl: ENSG00000284862

Protein

• UniProt ID: Q9UFE4
• Protein name: Coiled-coil domain-containing protein 39
• Protein function: Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131972). Probably acts t
• PDB: 8J07
• Tissue specificity: TISSUE SPECIFICITY: Mainly expressed in nasal brushings and, to a lesser extent, in lungs and testis. {ECO:0000269|PubMed:21131972}.
• Sequence:

  MSSEFLAELHWEDGFAIPVANEENKLLEDQLSKLKDERASLQDELREYEERINSMTSHFK
  NVKQELSITQSLCKARERETESEEHFKAIAQRELGRVKDEIQRLENEMASILEKKSDKEN
  GIFKATQKLDGLKCQMNWDQQALEAWLEESAHKDSDALTLQKYAQQDDNKIRALTLQLER
  LTLECNQKRKILDNELTETISAQLELDKAAQDFRKIHNERQELIKQWENTIEQMQKRDGD
  IDNCALELARIKQETREKENLVKEKIKFLESEIGNNTEFEKRISVADRKLLKCRTAYQDH
  ETSRIQLKGELDSLKATVNRTSSDLEALRKNISKIKKDIHEETARLQKTKNHNEIIQTKL
  KEITEKTMSVEEKATNLEDMLKEEEKDVKEVDVQLNLIKGVLFKKAQELQTETMKEKAVL
  SEIEGTRSSLKHLNHQLQKLDFETLKQQEIMYSQDFHIQQVERRMSRLKGEINSEEKQAL
  EAKIVELRKSLEEKKSTCGLLETQIKKLHNDLYFIKKAHSKNSDEKQSLMTKINELNLFI
  DRSEKELDKAKGFKQDLMIEDNLLKLEVKRTREMLHSKAEEVLSLEKRKQQLYTAMEERT
  EEIKVHKTMLASQIRYVDQERENISTEFRERLSKIEKLKNRYEILTVVMLPPEGEEEKTQ
  AYYVIKAAQEKEELQREGDCLDAKINKAEKEIYALENTLQVLNSCNNNYKQSFKKVTPSS
  DEYELKIQLEEQKRAVDEKYRYKQRQIRELQEDIQSMENTLDVIEHLANNVKEKLSEKQA
  YSFQLSKETEEQKPKLERVTKQCAKLTKEIRLLKDTKDETMEEQDIKLREMKQFHKVIDE
  MLVDIIEENTEIRIILQTYFQQSGLELPTASTKGSRQSSRSPSHTSLSARSSRSTSTSTS
  QSSIKVLELKFPASSSLVGSPSRPSSASSSSSNVKSKKSSK

• Sequence length: 941

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
CCDC39-related disorder	Pathogenic; Likely pathogenic	rs878855279, rs397515392, rs1415346246, rs1560086701	RCV004755823 RCV003914861 RCV004755993 RCV003420209	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heterotaxy	Pathogenic	rs1560086701	RCV001731885	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infertility disorder	Pathogenic	rs397515392	RCV001327942	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs1174553107, rs751239231, rs1717267418, rs1717695462, rs2108418891, rs2108421980, rs1399517463, rs375839864, rs2108429507, rs2108404522, rs2108420039, rs750086296, rs762287443, rs2473806213, rs1717963637, rs1489439743, rs776301372, rs2473826256, rs780175755, rs2526286396, rs756235547, rs1717357943, rs2473824869, rs376352893, rs1423596492, rs779447025, rs759007326, rs2473814576, rs2473817538, rs863224531, rs749280773, rs878855279, rs773801386, rs878855280, rs2473824830, rs2473804044, rs2473804087, rs2473808886, rs2473777138, rs2473813226, rs1415205563, rs1168132298, rs1711503031, rs2473813365, rs2473804152, rs2473814484, rs2473777874, rs1210959281, rs2473808850, rs1711502781, rs992409739, rs2473806198, rs377454931, rs1481266590, rs2473810026, rs2473804165, rs2473826249, rs2473782922, rs1472519086, rs2473810084, rs2473781768, rs1432128768, rs1711543098, rs2473776818, rs2473826155, rs2473828687, rs2473808878, rs1711686356, rs2473824051, rs1718020912, rs2473804121, rs2473813482, rs1300257600, rs2473828662, rs1253995342, rs2473810012, rs1711686897, rs897771164, rs2473777314, rs2473778214, rs746728127, rs2473793694, rs1292030955, rs2473828784, rs1280721587, rs2473817613, rs577069249, rs397515392, rs772219642, rs1553800956, rs1210953680, rs1007345781, rs1553805885, rs1553803540, rs1553804209, rs1553804640, rs1553804220, rs1415346246, rs1553805740, rs1553804100, rs1275367324, rs1560079213, rs1560086701, rs1560092440, rs1285431486, rs753580394, rs1560090006, rs1560092160, rs778577109, rs1576941580, rs1256848235, rs747980515, rs1245822059, rs587778820, rs587778821, rs587778822, rs758482424, rs757823891, rs771057685, rs1711717951, rs1468349011, rs1047910260, rs758362162, rs1717971093, rs781526810, rs1717268208	RCV003382515 RCV001849603 RCV001380089 RCV001382031 RCV001382042 RCV001381312 RCV001386661 RCV002541113 RCV001849601 RCV001849602 RCV001877893 RCV001864617 RCV001951071 RCV001934811 RCV002401130 RCV002415156 RCV002432584 RCV002408148 RCV002439723 RCV000168290 RCV003098885 RCV002602807 RCV002620560 RCV002651762 RCV002577203 RCV002591242 RCV002594438 RCV002815405 RCV002858707 RCV002918992 RCV000197291 RCV000200347 RCV003046357 RCV000232422 RCV000226980 RCV000231675 RCV003535013 RCV003536122 RCV003536271 RCV003536056 RCV003536095 RCV003536206 RCV003537588 RCV003537825 RCV003537679 RCV003536518 RCV003537547 RCV003539312 RCV003538977 RCV003537968 RCV003535153 RCV003535154 RCV003536578 RCV003535217 RCV003536779 RCV003536623 RCV003536706 RCV003537023 RCV003538267 RCV003538158 RCV003538089 RCV003538184 RCV003648078 RCV003648079 RCV003647352 RCV003649800 RCV003650885 RCV003650861 RCV003652435 RCV003651204 RCV003652361 RCV003652632 RCV003653681 RCV003653831 RCV003649856 RCV003650145 RCV003650234 RCV003650088 RCV003652980 RCV003653109 RCV003651744 RCV003652857 RCV003652956 RCV003818644 RCV003842882 RCV003842883 RCV003840075 RCV003863122 RCV003877006 RCV000477112 RCV000199155 RCV005090933 RCV000558884 RCV000534994 RCV000529219 RCV000536458 RCV000541225 RCV000528312 RCV000549747 RCV000629382 RCV000629353 RCV000629362 RCV000629411 RCV000629413 RCV000706279 RCV000684853 RCV000686387 RCV000694872 RCV000697641 RCV000704844 RCV000694358 RCV000685321 RCV000809478 RCV000808214 RCV000818389 RCV000798124 RCV000815017 RCV003650362 RCV000702403 RCV001243147 RCV001047685 RCV001040498 RCV001049637 RCV001046022 RCV001212775 RCV001206179 RCV001217910 RCV001228608 RCV001237623	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia 14	Pathogenic; Likely pathogenic	rs1174553107, rs1717267418, rs1717695462, rs1399517463, rs2108406611, rs1164781857, rs2108420039, rs780175755, rs779447025, rs759007326, rs756235547, rs773801386, rs2473845881, rs1338737312, rs2473824830, rs2473777314, rs2473823658, rs2473808806, rs577069249, rs397515392, rs772219642, rs1007345781, rs1415346246, rs1560086701, rs1576941580, rs747980515, rs587778820, rs587778821, rs587778822, rs757823891, rs771057685, rs1718119792, rs1718195095, rs781526810, rs1718204545, rs779435800	RCV001594432 RCV002499789 RCV002476721 RCV001780458 RCV001780459 RCV001780460 RCV005023334 RCV003152688 RCV003152801 RCV005027975 RCV001781580 RCV000779402 RCV003153221 RCV003236698 RCV003340982 RCV005030250 RCV003991694 RCV003991977 RCV004525933 RCV000024061 RCV001078460 RCV003989555 RCV002507056 RCV004760699 RCV005029493 RCV002487814 RCV000056197 RCV000056241 RCV000056245 RCV005029609 RCV001784581 RCV001078452 RCV001078461 RCV001290376 RCV001257432 RCV001289544	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Respiratory ciliopathies including non-CF bronchiectasis	Pathogenic; Likely pathogenic	rs375839864, rs753580394	RCV005253901 RCV005416036	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 14	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF NASOPHARYNX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ellis-van Creveld syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Fibrous Sheath Dysplasia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS AMBIGUUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthenozoospermia	Asthenozoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 14	Ciliary dyskinesia	GENOMICS_ENGLAND_DG	21131972, 23255504, 24896178		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 14	Ciliary dyskinesia	UNIPROT_DG	21131972, 22693285, 23255504, 25186273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 14	Ciliary dyskinesia	CLINVAR_DG	23255504, 23891469, 24498942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 14	Ciliary dyskinesia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	CLINVAR_DG	21131972, 22693285, 22693295, 2325550, 23255504, 23891469, 24498942, 25186273, 27637300		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	22499950, 23255504, 25186273, 25493340, 30067075, 33479112, 33577779, 35795318, 37660113, 37998386, 38072392, 38154480, 39383539, 39879322	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	28230599	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	23255504, 30067075	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	29317443		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	22693285, 23255504, 25048963		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	25493340	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33896828	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	21131974, 22499950, 22693285, 23255504, 25048963		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASDB_DG	19571811		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	19571811		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs inversus	Pubtator	35795318	Associate	★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only