DNAH11 (dynein axonemal heavy chain 11)

Gene

• Entrez ID: 8701
• Gene name: Dynein axonemal heavy chain 11
• Gene symbol: DNAH11
• Synonyms (NCBI Gene): CILD7, DNAHBL, DNAHC11, DNHBL, DPL11
• Chromosome: 7
• Chromosome location: 7p15.3
• Summary: This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs12537531	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs72655967	C>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs72657309	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs72657316	C>T	Pathogenic	Stop gained, coding sequence variant
rs72657321	C>T	Pathogenic	Stop gained, coding sequence variant
rs72657324	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs72657333	G>A	Pathogenic	Splice donor variant
rs72657354	G>A	Pathogenic	Splice donor variant
rs72657366	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs72657389	A>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs72657393	C>T	Pathogenic	Stop gained, coding sequence variant
rs114286628	A>C,G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121908854	C>A,G,T	Likely-benign, uncertain-significance, pathogenic	Missense variant, synonymous variant, coding sequence variant, stop gained
rs121908855	C>G	Pathogenic	Coding sequence variant, stop gained
rs142585703	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs149926178	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs183521702	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs191266255	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs200693106	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs201261243	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201618995	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201943194	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs202236144	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs367628980	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs368260932	C>T	Pathogenic	Coding sequence variant, stop gained
rs373844629	C>T	Pathogenic	Coding sequence variant, stop gained
rs373946181	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs374107286	C>T	Pathogenic	Coding sequence variant, stop gained
rs377691013	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs387907258	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs532007878	C>A,T	Pathogenic	Splice donor variant
rs727503901	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs753101269	C>T	Pathogenic	Stop gained, coding sequence variant
rs757013900	C>T	Pathogenic	Coding sequence variant, stop gained
rs757784023	C>A,T	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs759302236	G>A,T	Likely-pathogenic	Splice acceptor variant
rs759332741	->A	Pathogenic	Coding sequence variant, frameshift variant
rs761855200	C>T	Pathogenic	Coding sequence variant, stop gained
rs767595964	C>T	Pathogenic	Coding sequence variant, stop gained
rs771781357	->A	Pathogenic	Coding sequence variant, frameshift variant
rs773498002	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs774903187	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs775720394	C>A,T	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs781089233	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs797045085	C>T	Pathogenic	Coding sequence variant, stop gained
rs797045086	->TTG	Pathogenic	Coding sequence variant, stop gained, inframe insertion
rs878854435	T>A	Pathogenic	Coding sequence variant, stop gained
rs878854436	G>A	Likely-pathogenic	Intron variant
rs878854441	G>A	Pathogenic	Coding sequence variant, stop gained
rs878854444	G>A	Likely-pathogenic	Splice donor variant
rs878854445	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs878854446	C>G,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs886039340	G>C	Likely-pathogenic, pathogenic	Splice donor variant
rs886039341	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Splice donor variant
rs886042733	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs886042735	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs886044152	A>G,T	Pathogenic	Splice acceptor variant
rs949492765	G>C,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs972753865	T>C	Likely-pathogenic	Splice donor variant
rs1057519105	A>C,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1060503041	G>A	Likely-pathogenic	Splice donor variant
rs1060503063	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060503064	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1156473739	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1164659091	G>T	Pathogenic	Coding sequence variant, stop gained
rs1175443221	G>A	Pathogenic	Splice donor variant
rs1178187217	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1190944498	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1237605731	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1275718084	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1286036654	C>T	Pathogenic	Stop gained, coding sequence variant
rs1309805676	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1327282449	G>C,T	Likely-pathogenic	Splice acceptor variant
rs1355068287	T>G	Likely-pathogenic	Missense variant, initiator codon variant
rs1554269295	TGAAAATGATTCATGATGCCATCAGAAACAGGAAGAAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554281038	G>A	Likely-pathogenic	Splice donor variant
rs1554282583	A>T	Pathogenic	Coding sequence variant, stop gained
rs1554291973	A>G	Pathogenic	Splice acceptor variant
rs1554292398	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554293484	G>T	Likely-pathogenic	Splice acceptor variant
rs1554309352	T>A	Pathogenic	Coding sequence variant, stop gained
rs1554314722	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562521048	GAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562590250	->GC	Pathogenic	Coding sequence variant, frameshift variant
rs1562684798	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583508118	->CTTTTGATGTTGAAGAAACAAGACATACCAGATTCAGCTTT	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1583567611	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583570354	A>G	Likely-pathogenic	Intron variant
rs1583647043	GGCTACAGGTAGGGTGTTGAATACTGCTCTCAAAAACTGTAGGTCTGTATTGTATTGTTTTCGAGTACAGCTTAGGATTCCTATGGGACATCTTGTTAAGCACGTTTCTCATGGCAGCTGTACTATATTTTATTCCCACTAACAACAGACAGGGGTTCTAATAAGCCTTTTTGTTTTAATTGGTAGACTTTATTTTTTATATCAAAGTTTATAGCAAAATCAACTGGCAGTACAAATAATTCCTATGTACTCTCT	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1583685951	GTGAGCCGGGAAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1583806864	A>T	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019843	hsa-miR-375	Microarray	20215506
MIRT939567	hsa-miR-1267	CLIP-seq
MIRT939568	hsa-miR-1289	CLIP-seq
MIRT939569	hsa-miR-2467-3p	CLIP-seq
MIRT939570	hsa-miR-3198	CLIP-seq
MIRT939571	hsa-miR-338-3p	CLIP-seq
MIRT939572	hsa-miR-3975	CLIP-seq
MIRT939573	hsa-miR-4273	CLIP-seq
MIRT939574	hsa-miR-4294	CLIP-seq
MIRT939575	hsa-miR-4309	CLIP-seq
MIRT939576	hsa-miR-4423-5p	CLIP-seq
MIRT939577	hsa-miR-4530	CLIP-seq
MIRT939578	hsa-miR-4534	CLIP-seq
MIRT939579	hsa-miR-4652-3p	CLIP-seq
MIRT939580	hsa-miR-4677-5p	CLIP-seq
MIRT939581	hsa-miR-4775	CLIP-seq
MIRT939582	hsa-miR-4793-3p	CLIP-seq
MIRT939583	hsa-miR-508-5p	CLIP-seq
MIRT939584	hsa-miR-766	CLIP-seq
MIRT939585	hsa-miR-922	CLIP-seq
MIRT939586	hsa-miR-924	CLIP-seq
MIRT2213300	hsa-miR-3150a-5p	CLIP-seq
MIRT2213301	hsa-miR-3150b-5p	CLIP-seq
MIRT2213302	hsa-miR-4284	CLIP-seq
MIRT2213303	hsa-miR-4419a	CLIP-seq
MIRT939576	hsa-miR-4423-5p	CLIP-seq
MIRT2213304	hsa-miR-4459	CLIP-seq
MIRT2213305	hsa-miR-4510	CLIP-seq
MIRT2213306	hsa-miR-4638-5p	CLIP-seq
MIRT2213307	hsa-miR-4772-3p	CLIP-seq
MIRT2213308	hsa-miR-4779	CLIP-seq
MIRT2213309	hsa-miR-665	CLIP-seq
MIRT939567	hsa-miR-1267	CLIP-seq
MIRT2448385	hsa-miR-1273f	CLIP-seq
MIRT939568	hsa-miR-1289	CLIP-seq
MIRT2448386	hsa-miR-186	CLIP-seq
MIRT939570	hsa-miR-3198	CLIP-seq
MIRT939573	hsa-miR-4273	CLIP-seq
MIRT939574	hsa-miR-4294	CLIP-seq
MIRT939575	hsa-miR-4309	CLIP-seq
MIRT939576	hsa-miR-4423-5p	CLIP-seq
MIRT2448387	hsa-miR-4424	CLIP-seq
MIRT2213304	hsa-miR-4459	CLIP-seq
MIRT2448388	hsa-miR-4521	CLIP-seq
MIRT939578	hsa-miR-4534	CLIP-seq
MIRT2448389	hsa-miR-4639-3p	CLIP-seq
MIRT939579	hsa-miR-4652-3p	CLIP-seq
MIRT939580	hsa-miR-4677-5p	CLIP-seq
MIRT2213309	hsa-miR-665	CLIP-seq
MIRT939586	hsa-miR-924	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003341	Process	Cilium movement	IEA
GO:0003341	Process	Cilium movement	IEA
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0003356	Process	Regulation of cilium beat frequency	IMP	18022865, 22184204, 22499950
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IDA	31178125
GO:0005930	Component	Axoneme	IEA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	IMP	12142464, 18022865, 22184204, 22499950
GO:0007507	Process	Heart development	IEA
GO:0007611	Process	Learning or memory	IEA
GO:0008569	Function	Minus-end-directed microtubule motor activity	IBA
GO:0008569	Function	Minus-end-directed microtubule motor activity	IEA
GO:0030286	Component	Dynein complex	IBA
GO:0030286	Component	Dynein complex	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	18492703
GO:0031514	Component	Motile cilium	IDA	31178125
GO:0031514	Component	Motile cilium	IEA
GO:0035545	Process	Determination of left/right asymmetry in nervous system	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045505	Function	Dynein intermediate chain binding	IBA
GO:0045505	Function	Dynein intermediate chain binding	IEA
GO:0051959	Function	Dynein light intermediate chain binding	IBA
GO:0051959	Function	Dynein light intermediate chain binding	IEA
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IEA
GO:0060294	Process	Cilium movement involved in cell motility	IBA
GO:0060411	Process	Cardiac septum morphogenesis	IEA
GO:0097728	Component	9+0 motile cilium	IEA
GO:0097729	Component	9+2 motile cilium	IBA
GO:0097729	Component	9+2 motile cilium	IDA	26909801
GO:0097729	Component	9+2 motile cilium	IEA
GO:0120134	Component	Proximal portion of axoneme	IDA	26909801
GO:0120134	Component	Proximal portion of axoneme	IEA
GO:0120229	Process	Protein localization to motile cilium	IMP	33139725

Other IDs

• MIM: 603339
• HGNC: 2942
• e!Ensembl: ENSG00000105877

Protein

• UniProt ID: Q96DT5
• Protein name: Dynein axonemal heavy chain 11 (Axonemal beta dynein heavy chain 11) (Ciliary dynein heavy chain 11)
• Protein function: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08385	DHC_N1	240 → 812	Dynein heavy chain, N-terminal region 1	Family
  PF08393	DHC_N2	1316 → 1721	Dynein heavy chain, N-terminal region 2	Family
  PF12774	AAA_6	1855 → 2181	Hydrolytic ATP binding site of dynein motor region	Domain
  PF17852	Dynein_AAA_lid	2346 → 2466	Dynein heavy chain AAA lid domain	Domain
  PF12775	AAA_7	2471 → 2649		Domain
  PF17857	AAA_lid_1	2682 → 2781	AAA+ lid domain	Domain
  PF12780	AAA_8	2825 → 3084	P-loop containing dynein motor region D4	Domain
  PF12777	MT	3097 → 3441	Microtubule-binding stalk of dynein motor	Domain
  PF12781	AAA_9	3466 → 3684	ATP-binding dynein motor region	Domain
  PF03028	Dynein_heavy	3924 → 4045	Dynein heavy chain region D6 P-loop domain	Domain
  PF18198	AAA_lid_11	4059 → 4213	Dynein heavy chain AAA lid domain	Domain
  PF18199	Dynein_C	4219 → 4514	Dynein heavy chain C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in airway ciliated epithelial cells (at protein level) (PubMed:31178125, PubMed:33139725). Not detected in spermatozoa (at protein level) (PubMed:31178125). {ECO:0000269|PubMed:31178125, ECO:0000269|PubMed:33139725}.
• Sequence:

  MAAQVAAREARDFREAPTLRLTSGAGLEAVGAVELEEEEENEEEAAARRARSFAQDARVR
  FLGGRLAMMLGFTEEKWSQYLESEDNRQVLGEFLESTSPACLVFSFAASGRLAASQEIPR
  DANHKLVFISKKITESIGVNDFSQVVLFGELPALSLGHVSAFLDEILVPVLSNKNNHKSW
  SCFTSQDMEYHIEVMKKKMYIFRGKMSRRTLLPIPTVAGKMDLDQNCSENKPPSNERIIL
  HAIESVVIEWSHQIQEIIERDSVQRLLNGLHLSPQAELDFWMMRRENLSCIYDQLQAPVV
  LKMVKILTTKQSSYFPTLKDIFLAVENALLEAQDVELYLRPLRRHIQCLQETEFPQTRIL
  IAPLFHTICLIWSHSKFYNTPARVIVLLQEFCNLFINQATAYLSPEDLLRGEIEESLEKV
  QVAVNILKTFKNSFFNYRKKLASYFMGRKLRPWDFQSHLVFCRFDKFLDRLIKIEDIFAT
  TLEFEKLERLEFGGTKGAILNGQVHEMSEELMELCKLFKQSTYDPSDCTNMEFESDYVAF
  KSKTLEFDRRLGTIICEAFFNCNGLEAAFKLLTIFGNFLEKPVVMEIFSLHYSTLVHMFN
  TELDVCKQLYNEHMKQIECGHVVLNKNMPFTSGNMKWAQQVLQRLQMFWSNFASLRYLFL
  GNPDHALVYQKYVEMTTLLDQFESRIYNEWKSNVDEICEFNLNQPLVKFSAINGLLCVNF
  DPKLVAVLREVKYLLMLKKQDIPDSALAIFKKRNTILKYIGNLDLLVQGYNKLKQTLLEV
  EYPLIEDELRAIDEQLTAATTWLTWQDDCWGYIERVRAATSELEHRVERTQKNVKVIQQT
  MRGWARCVLPPRREHRREAAFTLEDKGDLFTKKYKLIQGDGCKIHNLVEENRKLFKANPS
  LDTWKIYVEFIDDIVVEGFFQAIMHDLDFFLKNTEKQLKPAPFFQAQMILLPPEIVFKPS
  LDREAGDGFYDLVEEMLCNSFRMSAQMNRIATHLEIKNYQNDMDNMLGLAEVRQEIMNRV
  VNVINKVLDFRNTLETHTYLWVDDRAEFMKHFLLYGHAVSSDEMDAHANEEIPEQPPTLE
  QFKEQIDIYEALYVQMSKFEDFRVFDSWFKVDMKPFKVSLLTIIKKWSWMFQEHLLRFVI
  DSLNELQEFIKETDSGLQRELNEGDHDGLVDIMVHLLAVRSRQRATDELFEPLKETITLL
  ESYGQKMPEQVYIQLEELPERWETTKKIAATVRHEVSPLHNAEVTLIRKKCILFDAKQAE
  FRERFRHYAPLGFNAENPYTALDKANEELEALEEEMLQMQESTRLFEVALPEYKQMKQCR
  KEIKLLKGLWDVIIYVRRSIDNWTKTQWRQIHVEQMDVELRRFAKEIWSLNKEVRVWDAY
  TGLEGTVKDMTASLRAITELQSPALRDRHWHQLMKAIGVKFLINEATTLADLLALRLHRV
  EDDVRRIVDKAVKELGTEKVITEISQTWATMKFSYEVHYRTGIPLLKSDEQLFETLEHNQ
  VQLQTLLQSKYVEYFIEQVLSWQNKLNIADLVIFTWMEVQRTWSHLESIFVCSEDIRIQL
  VKDARRFDGVDAEFKELMFKTAKVENVLEATCRPNLYEKLKDLQSRLSLCEKALAEYLET
  KRIAFPRFYFVSSADLLDILSKGAQPKQVTCHLAKLFDSIADLQFEDNQDVSAHRAVGMY
  SKEKEYVPFQAECECVGHVETWLLQLEQTMQETVRHSITEAIVAYEEKPRELWIFDFPAQ
  VALTSSQIWWTTDVGIAFSRLEEGYETALKDFHKKQISQLNTLITLLLGELPPGDRQKIM
  TICTIDVHARDVVAKLISQKVVSPQAFTWLSQLRHRWEDTQKHCFVNICDAQFQYFYEYL
  GNSPRLVITPLTDRCYITLTQSLHLTMSGAPAGPAGTGKTETTKDLGRALGMMVYVFNCS
  EQMDYKSIGNIYKGLVQTGAWGCFDEFNRISVEVLSVVAVQVKMIHDAIRNRKKRFVFLG
  EAITLKPSVGIFITMNPGYAGRTELPENLKALFRPCAMVAPDIELICEILLVAEGFVDAR
  ALARKFITLYTLCKELLSKQDHYDWGLRAIKSVLVVAGSLKRGDKNRPEDQVLMRALRDF
  NMPKIVTDDIPVFLGLVGDLFPALDVPRRRKLHFEQMVRQSTLELRLQPEESFILKVVQL
  EELLAVRHSVFVVGNAGTGKSKILRTLNRTYVNMKQKPVWNDLNPKAVTTDELFGFIHHA
  TREWKDGKIVYSYFIGLFSSILREQANLKHDGPKWIVLDGDIDPMWIESLNTVMDDNKVL
  TLASNERIALTPFMRLLFEIHHLRSATPATVSRAGILYVNPQDLGWNPYVASWIDRRRHQ
  SEKANLTILFDKYVPACLDKLRTSFKTITSIPESSLVQTLCVLLECLLTPENVPSDSPKE
  VYEVYFVFACIWAFGGTLLQDQISDYQADFSRWWQKEMKAVKFPSQGTIFDYYVDHKTKK
  LLPWADKIAQFTMDPDVPLQTVLVHTTETARLRYFMELLLEKGKPLMLVGNAGVGKTVFV
  GDTLASLSEDYIVSRVPFNYYTTSTALQKILEKPLEKKAGHNYGPGGNKKLIYFIDDMNM
  PEVDLYGTVQPHTLIRQHIDYGHWYDRQKVMLKEIHNCQYVACMNPMVGSFTINPRLQRH
  FTVFAFNFPSLDALNTIYGQIFSFHFQQQAFAPSILRSGPTLIQATIAFHQTMMCNFLPT
  AIKFHYIFNLRDLSNVFQGILFASPECLKGPLDLIHLWLHESARVYGDKLIDKKDCDLFQ
  RRMLETAYKYFEGIDSHMLLQQPLIYCHFADRGKDPHYMPVKDWEVLKTILTETLDNYNE
  LNAAMHLVLFEDAMQHVCRISRILRTPQGCALLVGVGGSGKQSLSRLAAYLRGLEVFQIT
  LTEGYGIQELRVDLANLYIRTGAKNMPTVFLLTDAQVLDESFLVLINDLLASGEIPDLFS
  DEDVDKIISGIHNEVHALGMVDSRENCWKFFMARVRLQLKIILCFSPVGRTLRVRARKFP
  AIVNCTAIDWFHAWPQEALVSVSRRFIEETKGIEPVHKDSISLFMAHVHTTVNEMSTRYY
  QNERRHNYTTPKSFLEQISLFKNLLKKKQNEVSEKKERLVNGIQKLKTTASQVGDLKARL
  ASQEAELQLRNHDAEALITKIGLQTEKVSREKTIADAEERKVTAIQTEVFQKQRECEADL
  LKAEPALVAATAALNTLNRVNLSELKAFPNPPIAVTNVTAAVMVLLAPRGRVPKDRSWKA
  AKVFMGKVDDFLQALINYDKEHIPENCLKVVNEHYLKDPEFNPNLIRTKSFAAAGLCAWV
  INIIKFYEVYCDVEPKRQALAQANLELAAATEKLEAIRKKLVDLDRNLSRLTASFEKATA
  EKVRCQEEVNQTNKTIKLANRLVKELEAKKIRWGQSIKSFEAQEKTLCGDVLLTAAFVSY
  VGPFTRQYRQELVHCKWVPFLQQKVSIPLTEGLDLISMLTDDATIAAWNNEGLPSDRMST
  ENAAILTHCERWPLVIDPQQQGIKWIKNKYGMDLKVTHLGQKGFLNAIETALAFGDVILI
  ENLEETIDPVLDPLLGRNTIKKGKYIRIGDKECEFNKNFRLILHTKLANPHYKPELQAQT
  TLLNFTVTEDGLEAQLLAEVVSIERPDLEKLKLVLTKHQNDFKIELKYLEDDLLLRLSAA
  EGSFLDDTKLVERLEATKTTVAEIEHKVIEAKENERKINEARECYRPVAARASLLYFVIN
  DLQKINPLYQFSLKAFNVLFHRAIEQADKVEDMQGRISILMESITHAVFLYTSQALFEKD
  KLTFLSQMAFQILLRKKEIDPLELDFLLRFTVEHTHLSPVDFLTSQSWSAIKAIAVMEEF
  RGIDRDVEGSAKQWRKWVESECPEKEKLPQEWKKKSLIQKLILLRAMRPDRMTYALRNFV
  EEKLGAKYVERTRLDLVKAFEESSPATPIFFILSPGVDALKDLEILGKRLGFTIDSGKFH
  NVSLGQGQETVAEVALEKASKGGHWVILQNVHLVAKWLGTLEKLLERFSQGSHRDYRVFM
  SAESAPTPDEHIIPQGLLENSIKITNEPPTGMLANLHAALYNFDQDTLEICSKEQEFKSI
  LFSLCYFHACVAGRLRFGPQGWSRSYPFNPGDLTICASVLYNYLEANSKVPWEDLRYLFG
  EIMYGGHITDDWDRKLCRVYLEEFMNPSLTEDELMLAPGFAAPPYLDYAGYHQYIEEMLP
  PESPALYGLHPNAEIEFLTVTSNTLFRTLLEMQPRNALSGDELGQSTEEKVKNVLDDILE
  KLPEEFNMAEIMQKNSNRSPYVLVCFQECERMNILIREIRISLEQLDLSLKGELALSPAV
  EAQQFALSYDTVPDTWSKLAYPSTYGLAQWFNDLLLRCRELDTWTQDLTLPAVVWLSGFF
  NPQSFLTAIMQTMARKNEWPLDKTRLTADVTKKTKEDYGHPPREGAYLHGLFMEGARWDT
  QAGTIVEARLKELACPMPVIFAKATPVDRQETKQTYECPVYRTKLRGPSYIWTFRLKSEE
  KTAKWVLAGVALLLEA

• Sequence length: 4516

Pathways

KEGG:

Motor proteins
Amyotrophic lateral sclerosis
Huntington disease
Pathways of neurodegeneration - multiple diseases

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
CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS	Pathogenic	rs121908854	RCV000590992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DNAH11-related disorder	Pathogenic; Likely pathogenic	rs372143147, rs200693106, rs878854444, rs878854445, rs886039340, rs908792916, rs1489165107, rs2534596060, rs2535470681, rs2535463696, rs2535464064, rs1554293484, rs374107286, rs761764078, rs766922403	RCV004738575 RCV004541339 RCV004529391 RCV004532869 RCV004535234 RCV004528650 RCV004538995 RCV004531557 RCV004529748 RCV004738767 RCV004532168 RCV004737606 RCV004535743 RCV004538462 RCV004538464	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glioma susceptibility 1	Likely pathogenic	rs2535463696	RCV005934686	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kartagener syndrome	Pathogenic	rs1480698078	RCV006434906	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Laterality defects, autosomal dominant	Pathogenic	rs1310930757	RCV004764977	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Likely pathogenic; Pathogenic	rs1784799612, rs1785058598, rs372143147, rs1245853002, rs1354416117, rs2128453160, rs72657312, rs2128053554, rs1562668233, rs958055112, rs2128474056, rs1785931346, rs1787819788, rs2128025477, rs2128052407, rs2128465955, rs932177093, rs748084362, rs1293819249, rs758224118, rs2128053495, rs746014324, rs72657308, rs2128053357, rs1310930757, rs2128049034, rs1480698078, rs2128490901, rs2128474023, rs1278777268, rs2128459908, rs1408664815, rs1450623027, rs2128016880, rs2128479064, rs781372148, rs2128473916, rs2128492914, rs779520176, rs1208384558, rs868294039, rs749926976, rs1562691736, rs776980207, rs2534689583, rs374802008, rs373706559, rs1166330097, rs2534777695, rs72658817, rs774689207, rs1261633400, rs1783826754, rs2535218168, rs1462707634, rs1428188386, rs2535252563, rs2535362742, rs1446965214, rs753010997, rs2128452309, rs1191615331, rs369681389, rs867382922, rs1373906090, rs1448862370, rs2535505726, rs769279343, rs2535096116, rs2534163477, rs1190251540, rs1017444476, rs2534986391, rs797045085, rs2534710940, rs2535107151, rs2535331758, rs2535262841, rs1204692060, rs758391967, rs2534633898, rs760757416, rs2534495724, rs1789346276, rs2535099086, rs1447609804, rs121908855, rs1785964296, rs72657316, rs200693106, rs878854441, rs72657321, rs757013900, rs878854444, rs878854445, rs878854446, rs72657393, rs878854435, rs878854436, rs1554294459, rs1783348812, rs2535218090, rs886039340, rs886042735, rs886044152, rs201943194, rs908792916, rs1489165107, rs2534699942, rs2535099209, rs370080269, rs2534633649, rs1435811495, rs2535217792, rs2535501445, rs2534599431, rs2534164388, rs2534693553, rs2534123110, rs2534689330, rs749689428, rs2534839400, rs2534460628, rs2534838847, rs753829354, rs772228900, rs2535116914, rs2535357275, rs1223268225, rs1364430470, rs2535259763, rs765632800, rs2535119185, rs773538041, rs2534772431, rs2535331517, rs756621896, rs767078773, rs2535259357, rs1467862243, rs751061873, rs2535272453, rs1298378020, rs774963422, rs2534915969, rs1562520885, rs2535083418, rs2534165019, rs1783373825, rs748873603, rs774665658, rs1554318136, rs753129819, rs72657326, rs72657362, rs1238389932, rs762421117, rs2534627208, rs2128443515, rs1783333404, rs2534164401, rs2534154885, rs2535310419, rs2534628821, rs986470719, rs2534154521, rs2534906714, rs767231963, rs763657340, rs2535042738, rs2534991105, rs2535464638, rs1787541407, rs540157623, rs1263473412, rs778733267, rs2534916472, rs2535119038, rs2535434029, rs2534596060, rs2534777249, rs2534165348, rs2535008828, rs2535470506, rs2535357099, rs2477489047, rs2535099666, rs1182156737, rs2534990487, rs1784654067, rs2534165871, rs2534164505, rs376470998, rs765958312, rs2534830355, rs2534711439, rs1784691873, rs2534583808, rs2535018649, rs769315133, rs748950751, rs2534597561, rs756829484, rs1167519702, rs747957553, rs779535145, rs2534496753, rs2534633028, rs1333280926, rs2534164296, rs1162526607, rs2534461499, rs760516093, rs2534597888, rs1438226783, rs2535134459, rs2534781832, rs1489010290, rs2534154891, rs2534155120, rs2534707554, rs2535234176, rs1411593986, rs2534689898, rs2535310959, rs2535043152, rs1489686376, rs1361512116, rs1562563770, rs2534056842, rs2534495509, rs2535434198, rs2535189943, rs2534165015, rs2535252328, rs2534165011, rs2534131357, rs2534520167, rs1179938835, rs2534460277, rs748399924, rs1583567778, rs2535260111, rs1203659423, rs2535234805, rs2534407745, rs2534711045, rs1426204968, rs1784592491, rs2535470241, rs2534460645, rs2534483084, rs2534977169, rs2535107508, rs376452135, rs2534464142, rs2534588927, rs2534653912, rs2534483587, rs1282229623, rs2534526700, rs72657354, rs2535463696, rs2534838713, rs2535506167, rs1228238442, rs2534633877, rs1789350322, rs2535099288, rs2534163550, rs780948319, rs1784790339, rs778407227, rs1369201943, rs1277063931, rs1784807172, rs2535136966, rs1306120659, rs2534627646, rs1789901930, rs769756688, rs2534409365, rs777360011, rs753645186, rs1300956481, rs750640740, rs764414399, rs2534164126, rs774304164, rs2534585759, rs773498002, rs765308785, rs2534589152, rs2535137725, rs980444912, rs2535362460, rs1785577120, rs868313799, rs2535262912, rs1785094598, rs1424739250, rs2534585612, rs2534781889, rs770628646, rs1786848141, rs2535043136, rs2534917103, rs1266458783, rs1472494326, rs753074450, rs1562660214, rs2534838919, rs1060503056, rs1060503063, rs1060503041, rs774903187, rs1064794014, rs1355068287, rs368260932, rs771781357, rs1261703349, rs1554309352, rs1286036654, rs72657333, rs1554269295, rs373844629, rs767595964, rs1554293484, rs775720394, rs1212535211, rs769637393, rs1554312483, rs1164659091, rs1275718084, rs202236144, rs972753865, rs1554291973, rs1554292398, rs1554281038, rs757784023, rs551275210, rs1554282583, rs1562590250, rs1562684798, rs374107286, rs1562521048, rs1175443221, rs377691013, rs1309805676, rs767308949, rs559143773, rs1583508118, rs949492765, rs1583567611, rs373946181, rs1237605731, rs756115857, rs1583806864, rs761855200, rs759332741, rs1583570354, rs1583647043, rs749372718, rs72655998, rs756850884, rs765778415, rs1479385947, rs72658823, rs1162823375, rs370565524, rs1360420006, rs774855011, rs1785786687, rs1788083949, rs766759197, rs771953930, rs72658835, rs1783410926, rs761764078, rs1583616682, rs764509824, rs1245232070, rs775230957, rs766922403, rs771508476, rs760622693, rs767101212, rs747442861, rs773851007, rs1784790883, rs1784326790, rs1429978132, rs1415270608, rs1785934565, rs1782130455, rs777285019, rs1785297774, rs1783074775	RCV003652152 RCV003652180 RCV002353303 RCV001373747 RCV001378520 RCV001378642 RCV001377560 RCV001379901 RCV001382901 RCV001386176 RCV001389747 RCV001386798 RCV001386959 RCV001380343 RCV001387365 RCV002542758 RCV002034204 RCV001881437 RCV001933457 RCV001949793 RCV001953753 RCV002020511 RCV001946142 RCV002007254 RCV002002372 RCV002035225 RCV002007526 RCV002037953 RCV002002530 RCV002002553 RCV001950997 RCV001946818 RCV001908974 RCV001908520 RCV001972516 RCV001951417 RCV001941179 RCV001934946 RCV001975061 RCV001909620 RCV001986078 RCV003653584 RCV002226186 RCV003094025 RCV002366374 RCV002457280 RCV002333927 RCV002340552 RCV002337985 RCV002335848 RCV002339861 RCV002361597 RCV002396186 RCV002371359 RCV002376535 RCV002443458 RCV002385199 RCV002408278 RCV002440075 RCV002442026 RCV002571454 RCV003653638 RCV003647942 RCV003534909 RCV003058901 RCV003069757 RCV003090581 RCV002578340 RCV002617359 RCV002671051 RCV002805480 RCV002780834 RCV002750935 RCV000707003 RCV002815677 RCV002856562 RCV002835126 RCV002880446 RCV002886130 RCV002885916 RCV002872732 RCV002917458 RCV002922541 RCV002927124 RCV002953157 RCV002939142 RCV002362568 RCV003016638 RCV000218593 RCV000223514 RCV000226298 RCV000230700 RCV000232517 RCV000228105 RCV000226138 RCV000233638 RCV000228211 RCV000229548 RCV000226238 RCV000231134 RCV004798976 RCV003172704 RCV000629338 RCV001268927 RCV005090394 RCV000461399 RCV003649454 RCV003649453 RCV003448941 RCV003448947 RCV003535030 RCV003536214 RCV003536217 RCV003536101 RCV003536253 RCV003536307 RCV003536136 RCV003536246 RCV003536295 RCV003536446 RCV003537530 RCV003537584 RCV003537708 RCV003536421 RCV003536426 RCV003536430 RCV003536484 RCV003537668 RCV003537671 RCV003537716 RCV003537784 RCV003537785 RCV003537788 RCV003537996 RCV003538993 RCV003539166 RCV003539276 RCV003537990 RCV003538894 RCV003538897 RCV003539238 RCV003538857 RCV003538970 RCV003539216 RCV003539222 RCV003539232 RCV003535202 RCV003535266 RCV003535497 RCV003535132 RCV003535191 RCV003535537 RCV003535187 RCV003536545 RCV003535176 RCV003535177 RCV003535178 RCV003535179 RCV003535180 RCV003535215 RCV003535381 RCV003535506 RCV003536935 RCV003536978 RCV003538010 RCV003538011 RCV003536714 RCV003536856 RCV003536858 RCV003536916 RCV003536686 RCV003536845 RCV003536906 RCV003537007 RCV003537018 RCV003536631 RCV003536731 RCV003536749 RCV003536883 RCV003536997 RCV003538068 RCV003538321 RCV003538322 RCV003536972 RCV003538060 RCV003538301 RCV003538198 RCV003538259 RCV003538352 RCV003538140 RCV003538192 RCV003538238 RCV003648113 RCV003648167 RCV003648217 RCV003648186 RCV003648205 RCV003647256 RCV003647378 RCV003647479 RCV003647343 RCV003647430 RCV003647438 RCV003647471 RCV003647467 RCV003647499 RCV003647590 RCV003647539 RCV003647655 RCV003647567 RCV003649716 RCV003647609 RCV003650844 RCV003650855 RCV003651023 RCV003650833 RCV003650839 RCV003650923 RCV003651125 RCV003649849 RCV003650956 RCV003650957 RCV003651032 RCV003651144 RCV003651181 RCV003652307 RCV003652400 RCV003652438 RCV003652440 RCV003651288 RCV003652431 RCV003651270 RCV003651316 RCV003652327 RCV003652329 RCV003652330 RCV003652378 RCV003651305 RCV003652324 RCV003652408 RCV003652530 RCV003652758 RCV003652743 RCV003652455 RCV003652504 RCV003652506 RCV003652714 RCV003652723 RCV003652771 RCV003653711 RCV003652538 RCV003652589 RCV003653690 RCV003653730 RCV003653731 RCV003653735 RCV003653859 RCV003653901 RCV003653978 RCV003653763 RCV003653844 RCV003653892 RCV003653796 RCV003653836 RCV003654014 RCV003653783 RCV003653861 RCV003654081 RCV003654018 RCV003654074 RCV003654108 RCV003649854 RCV003649855 RCV003650033 RCV003650137 RCV003650013 RCV003650063 RCV003650196 RCV003650230 RCV003650232 RCV003650286 RCV003650297 RCV003651623 RCV003651327 RCV003651463 RCV003651719 RCV003650326 RCV003651487 RCV003651634 RCV003651783 RCV003652889 RCV003653121 RCV003653164 RCV003653150 RCV000269539 RCV003814591 RCV003826526 RCV003820538 RCV003827081 RCV003835156 RCV003840144 RCV003840283 RCV003845926 RCV003842917 RCV003840838 RCV003856833 RCV003857359 RCV003861827 RCV003875608 RCV003875878 RCV003874214 RCV003872789 RCV003881391 RCV003878699 RCV003875063 RCV003994613 RCV000463577 RCV000459493 RCV000459116 RCV000472650 RCV003766672 RCV003535805 RCV000230314 RCV000555140 RCV000552871 RCV000542438 RCV000557975 RCV000540575 RCV000555298 RCV000544125 RCV000559628 RCV000539529 RCV000538299 RCV000560439 RCV000537312 RCV000535200 RCV000545538 RCV000527450 RCV000558577 RCV000528063 RCV000550822 RCV000551406 RCV000610477 RCV000629491 RCV000629322 RCV000629359 RCV000629360 RCV000706060 RCV000700741 RCV000699843 RCV000698713 RCV000688720 RCV001069750 RCV001041829 RCV001389256 RCV000821002 RCV000795901 RCV000810427 RCV000807969 RCV000814773 RCV000809053 RCV000824321 RCV000796478 RCV000808606 RCV000807076 RCV000821465 RCV000812097 RCV000797963 RCV001040125 RCV001048502 RCV001051076 RCV001038732 RCV001039349 RCV001038487 RCV001045513 RCV001058223 RCV001058458 RCV001058221 RCV001055997 RCV001045515 RCV001059147 RCV003769038 RCV001268926 RCV003770221 RCV001215916 RCV001220599 RCV001224395 RCV001218457 RCV001224515 RCV001218895 RCV001216307 RCV001209116 RCV001206865 RCV001207489 RCV001213439 RCV001204736 RCV001202391 RCV001224508 RCV001229824 RCV001225901 RCV001246824 RCV001236294 RCV001231738 RCV001245195	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia 7	Pathogenic; Likely pathogenic	rs2128489042, rs2128492930, rs2127982555, rs1785058598, rs372143147, rs2127985750, rs2128425459, rs2128447056, rs2128448988, rs2128492584, rs2128465955, rs1278777268, rs781372148, rs749926976, rs776980207, rs2534977058, rs374802008, rs373706559, rs1166330097, rs2534777695, rs72658817, rs774689207, rs1783826754, rs1428188386, rs753010997, rs2534165795, rs759005216, rs72658819, rs2128452309, rs1191615331, rs369681389, rs1448862370, rs797045086, rs797045085, rs121908854, rs121908855, rs1554294478, rs72657316, rs200693106, rs72657321, rs878854445, rs72657393, rs2534636903, rs2534634118, rs1783348812, rs2128460324, rs2534634175, rs2534166712, rs375314297, rs753101269, rs886042735, rs201943194, rs2534409982, rs2534464878, rs2535235100, rs770946058, rs764374746, rs370080269, rs772228900, rs756621896, rs1562520885, rs72657326, rs72657362, rs1238389932, rs762421117, rs2534830355, rs756829484, rs747957553, rs2535099288, rs2534163550, rs2535136966, rs1789901930, rs769756688, rs750640740, rs773498002, rs770628646, rs1786848141, rs1266458783, rs754491866, rs2534055729, rs2534409783, rs2535252516, rs767496764, rs1064794014, rs368260932, rs72657333, rs373844629, rs1554293484, rs775720394, rs1162526607, rs202236144, rs757784023, rs1562590250, rs374107286, rs377691013, rs1327282449, rs767308949, rs373946181, rs759302236, rs72655998, rs1479385947, rs72658823, rs774855011, rs1298746949, rs1784195520, rs1788086604, rs1789346276, rs1783569129, rs771953930, rs72658835, rs1783410926, rs761764078, rs764509824, rs775230957, rs766922403, rs747442861, rs773851007, rs1784326790, rs777285019	RCV001594425 RCV001594426 RCV001594441 RCV001331863 RCV005042813 RCV001353241 RCV001780971 RCV001780972 RCV005859694 RCV001780974 RCV001824249 RCV006249790 RCV005238118 RCV002502031 RCV002249919 RCV002286519 RCV005254065 RCV005254066 RCV005254070 RCV005254069 RCV005254071 RCV005254067 RCV005254076 RCV005254080 RCV005254099 RCV002466922 RCV002466960 RCV002471353 RCV002471440 RCV002472082 RCV005254107 RCV005034661 RCV000190578 RCV000190577 RCV000006847 RCV000006848 RCV000006849 RCV003147415 RCV001782703 RCV004800350 RCV004820840 RCV005031813 RCV003140619 RCV003142476 RCV003136685 RCV003136689 RCV003223359 RCV003224850 RCV003224945 RCV005252857 RCV005863083 RCV000289819 RCV003329140 RCV003329141 RCV003340952 RCV003340953 RCV003992115 RCV003486074 RCV005240797 RCV005254824 RCV005047694 RCV005254831 RCV005254832 RCV005254833 RCV005002027 RCV004554922 RCV005047730 RCV005356489 RCV006257386 RCV005637018 RCV005047814 RCV005047816 RCV005254867 RCV005254869 RCV001782860 RCV005254888 RCV005038603 RCV005254889 RCV003985967 RCV003990673 RCV003990851 RCV003993587 RCV004547280 RCV005252908 RCV000030676 RCV001706661 RCV000763173 RCV002497042 RCV000987856 RCV001783025 RCV004594072 RCV006249382 RCV003483714 RCV002477602 RCV002282360 RCV005253112 RCV000778826 RCV005036198 RCV000991380 RCV005235509 RCV003224882 RCV005056810 RCV003985835 RCV001078448 RCV001078449 RCV001078459 RCV001078450 RCV001078451 RCV001095711 RCV001594411 RCV001198972 RCV003147596 RCV003447580 RCV005236697 RCV005036480 RCV005040016 RCV005036471 RCV002480660 RCV005359978	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Respiratory ciliopathies including non-CF bronchiectasis	Likely pathogenic; Pathogenic	rs72657316	RCV005252820	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Situs inversus	Likely pathogenic	rs1562691736	RCV002226186	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs753645186	RCV005934813	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE REMODELING DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary dyskinesia, primary, 37	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 7	—	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
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF NASOPHARYNX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental defect during embryogenesis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLIPIDEMIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infertility disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYNESIAN BRONCHIECTASIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary ciliary dyskinesia 3	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS INVERSUS TOTALIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Acute bronchitis	Bronchitis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	34833359	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	22102620		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	31160482, 39256880	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	24024753		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	30947698	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	22184204		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	Pubtator	22184204	Associate	★☆☆☆☆ 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
Byzanthine arch palate	High palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	22184204	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	23103227		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	Charge syndrome	Pubtator	30359267	Associate	★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia Primary 7	Ciliary dyskinesia	Pubtator	33243178	Associate	★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 7 (disorder)	Ciliary Dyskinesia	UNIPROT_DG	12142464, 18022865, 25186273		★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 7 (disorder)	Ciliary Dyskinesia	GENOMICS_ENGLAND_DG	22102620		★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 7 (disorder)	Ciliary Dyskinesia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 7 (disorder)	Ciliary Dyskinesia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus	Ciliary Dyskinesia, With Or Without Situs Inversus	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus	Ciliary Dyskinesia, With Or Without Situs Inversus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS	CILIARY DYSKINESIA, WITH SITUS INVERSUS	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	12142464, 18434704, 22184204, 22499950, 24450482, 25186273, 26909801, 27637300, 29467202, 30359267, 31160482, 32357925, 32633470, 33243178, 33479112, 33577779, 33608380, 34405951, 35804324, 37088965, 37598471, 37660113, 37998386, 38154480, 39180133, 39256880	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	CLINVAR_DG	18022865, 20513915, 22102620, 22184204, 24450482, 25802884, 26139845, 27637300		★★☆☆☆ 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
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33714943, 37214090	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	26909801	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	31040315		★☆☆☆☆ 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
Coronary heart disease	Coronary Heart Disease	CTD_human_DG	19060911		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	31040315		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cough	Cough	Pubtator	33243178	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	24024753		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	38194422	Associate	★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	32357925	Associate	★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	CTD_human_DG	19060911		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31053115	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	31040315, 34133440	Associate	★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	22499950, 31040315, 32633470, 34133440	Associate	★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxia	BEFREE	31040315		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	22499950, 26909801	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	33574797	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	31160482, 33574797, 39256880	Associate	★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	12142464, 18022865, 22184204, 26729821, 29467202, 30359267		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kartagener Syndrome	Kartagener Syndrome	LHGDN	12142464, 18022865		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	GWASCAT_DG	26007630		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	32847546	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	GWASDB_DG	22120009, 23502783, 23955597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	GWASCAT_DG	22120009, 23502783, 26007630		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	Pubtator	22120009, 24449210, 27882933	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasal Polyps	Nasal polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	30359267	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24528012	Associate	★☆☆☆☆ Found in Text Mining only
Paraproteinemias	Paraproteinemia	GWASCAT_DG	26007630		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Primary amyloidosis	Amyloidosis	GWASCAT_DG	28025584		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	12142464, 16203616, 18022865, 18434704, 22102620, 22184204, 24024753, 26729821, 26909801, 27637300, 29467202, 30359267		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Recurrent otitis media	Otitis media	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Recurrent sinusitis	Sinusitis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	22184204		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	22184204		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	Pubtator	37088965	Associate	★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	29510755		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	29510755	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	BEFREE	22102620, 31040315		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	12142464, 22184204		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Situs Inversus	Situs Inversus	LHGDN	12142464		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Situs Inversus	Situs inversus	Pubtator	12142464, 32357925	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Situs inversus totalis	Situs Inversus	BEFREE	12142464		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs inversus totalis	Situs Inversus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spontaneous pneumothorax	Spontaneous pneumothorax	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	GWASCAT_DG	23103227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	GWASDB_DG	23103227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31053115		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	GWASCAT_DG	23103227		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29923336	Associate	★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition of the great arteries	Pubtator	36140829	Associate	★☆☆☆☆ Found in Text Mining only