DNAH11 (dynein axonemal heavy chain 11)

Gene

• Entrez ID: 8701
• Gene name: Dynein axonemal heavy chain 11
• Gene symbol: DNAH11
• Synonyms: 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:0003341	Process	Cilium movement	IBA	21873635
GO:0003356	Process	Regulation of cilium beat frequency	IMP	18022865, 22184204, 22499950
GO:0005524	Function	ATP binding	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005930	Component	Axoneme	IBA	21873635
GO:0005930	Component	Axoneme	IDA	31178125
GO:0007018	Process	Microtubule-based movement	IBA	21873635
GO:0007368	Process	Determination of left/right symmetry	IMP	12142464, 18022865, 22184204, 22499950
GO:0008569	Function	ATP-dependent microtubule motor activity, minus-end-directed	IBA	21873635
GO:0030286	Component	Dynein complex	IBA	21873635
GO:0030317	Process	Flagellated sperm motility	IMP	18492703
GO:0031514	Component	Motile cilium	IBA	21873635
GO:0031514	Component	Motile cilium	IDA	31178125
GO:0045505	Function	Dynein intermediate chain binding	IBA	21873635
GO:0051959	Function	Dynein light intermediate chain binding	IBA	21873635
GO:0097729	Component	9+2 motile cilium	IBA	21873635
GO:0097729	Component	9+2 motile cilium	IDA	26909801
GO:0120134	Component	Proximal portion of axoneme	IDA	26909801

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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	23103227
Ciliary dyskinesia	Ciliary Motility Disorders, CILIARY DYSKINESIA, PRIMARY, 7 (disorder), Primary Ciliary Dyskinesia	rs397515339, rs267607225, rs267607226, rs786205052, rs267607227, rs118204041, rs118204042, rs118204043, rs137853191, rs121434369, rs397515565, rs397515358, rs137852998, rs397515363, rs79833450, rs121908854, rs121908855, rs1554294478, rs79967166, rs121908853, rs1580543863, rs62642057, rs62638634, rs137852549, rs606231180, rs606231181, rs387907021, rs397515392, rs397515393, rs387907092, rs387907093, rs387907151, rs387907152, rs397515395, rs587776910, rs145457535, rs368260932, rs147718607, rs606231238, rs606231239, rs201133219, rs606231240, rs672601333, rs751785066, rs397514561, rs397515413, rs397515414, rs397515424, rs141945265, rs397515425, rs200321595, rs312262868, rs587776997, rs142371860, rs373501414, rs397515540, rs397515541, rs397515563, rs587778819, rs587778820, rs587778821, rs587778822, rs138815960, rs587777043, rs587777044, rs397515460, rs587777045, rs200913791, rs397515461, rs587777047, rs587777048, rs587777049, rs138320978, rs587777058, rs587777059, rs151107532, rs397518455, rs397518456, rs397515340, rs397515488, rs397515621, rs397515622, rs397518458, rs201740530, rs886037653, rs863223325, rs143740376, rs398122401, rs869320683, rs398122960, rs369037463, rs398123336, rs281865301, rs62635001, rs62635002, rs62653029, rs281865304, rs281865296, rs62635010, rs62635009, rs62635011, rs62635013, rs62650215, rs62638627, rs62638626, rs62638639, rs62638642, rs281865297, rs62650216, rs62638652, rs62638655, rs62640586, rs62640588, rs62640592, rs281865295, rs587777199, rs587777498, rs587777499, rs587777500, rs587777501, rs587777502, rs587777503, rs587777635, rs587777780, rs727502975, rs727502971, rs727504802, rs727502977, rs727504815, rs727503394, rs730882261, rs780175755, rs769054713, rs374909386, rs796052117, rs796052118, rs875989825, rs796052119, rs797045086, rs797045085, rs797044945, rs397515341, rs544674332, rs771663107, rs797045152, rs797045151, rs777031813, rs142800871, rs760123202, rs145742175, rs202094637, rs863224531, rs756235547, rs863224503, rs769458738, rs863224504, rs754867753, rs863224519, rs771214648, rs748688175, rs755553133, rs566755911, rs779506456, rs748618094, rs148891849, rs864622512, rs762664261, rs1060501460, rs753614861, rs72657316, rs200693106, rs876657683, rs876657637, rs752924362, rs750708201, rs878855279, rs773801386, rs878855280, rs571919972, rs755407407, rs775946081, rs755596256, rs878854458, rs878854457, rs762081081, rs144711161, rs878854441, rs72657321, rs757013900, rs878854444, rs878854445, rs878854446, rs72657393, rs878854435, rs878854436, rs1554294459, rs878855036, rs878854968, rs769284314, rs200669099, rs878855078, rs878855041, rs878855042, rs879253744, rs201213030, rs771920114, rs868755574, rs754776389, rs775700619, rs886037888, rs886037889, rs886039500, rs886039340, rs769346541, rs886041376, rs753101269, rs886042735, rs886044152, rs201943194, rs886044302, rs775696136, rs78484669, rs773498002, rs138890576, rs577069249, rs587621539, rs200901816, rs1060501456, rs773711154, rs752925056, rs1554020233, rs1060501464, rs769691189, rs767019228, rs1060501461, rs1060501467, rs1060501455, rs1060501459, rs1060501457, rs1060501466, rs1060501458, rs775051461, rs1060501454, rs781469274, rs759059925, rs766256391, rs1060503056, rs1060503063, rs1060503388, rs371374918, rs1060503107, rs144405450, rs752479330, rs1060503041, rs774903187, rs1060503104, rs763569711, rs1060503495, rs1060503515, rs752795172, rs1060501178, rs372572996, rs902156961, rs1060502829, rs1060503433, rs1060502202, rs200708870, rs775299709, rs370706991, rs141581673, rs774081599, rs757536895, rs756430359, rs770143722, rs1064792947, rs1060501861, rs1060500990, rs1060502831, rs372166228, rs1060501181, rs1060500123, rs772219642, rs1064795496, rs1064794014, rs575017579, rs1555354198, rs779490893, rs1555961832, rs1555961852, rs1555964133, rs768986129, rs1355068287, rs751845138, rs745800344, rs1553800956, rs1210953680, rs1007345781, rs1553805885, rs1553803540, rs1553804209, rs1553804640, rs746049858, rs1554049087, rs1554058577, rs1474945018, rs1554074565, rs753397685, rs754698253, rs1554033855, rs1353723750, rs763440781, rs367877988, rs747900131, rs749082955, rs1554062097, rs1554090622, rs1554090927, rs767716511, rs1554017211, rs753130398, rs745918507, rs1273352530, rs1354919632, rs368644722, rs1161303371, rs1283070426, rs755136231, rs1443540935, rs548521732, rs989235687, rs776686983, rs1554101045, rs116128702, rs1554132747, rs376576474, rs775136764, rs1034327724, rs902750903, rs750528020, rs753496815, rs771781357, rs1261703349, rs765025514, rs1554309352, rs1286036654, rs72657333, rs1554269295, rs373844629, rs767595964, rs1554293484, rs775720394, rs1212535211, rs1162526607, rs769637393, rs1554312483, rs1164659091, rs1275718084, rs202236144, rs972753865, rs147811057, rs1554248794, rs1554248887, rs950490534, rs1554291973, rs1275662909, rs1229952265, rs1554255966, rs1465404366, rs1409069267, rs1555174708, rs777108430, rs1555328022, rs1555328130, rs1555328047, rs758650222, rs1555526915, rs746242380, rs1555519999, rs762843285, rs758109864, rs1555614910, rs751191119, rs756868374, rs773796940, rs1555875358, rs556286752, rs1186608353, rs1555723797, rs745465871, rs773208371, rs745993158, rs1554082275, rs1555961677, rs1349668884, rs751610886, rs376496894, rs1554292398, rs1555327917, rs375053470, rs981267400, rs1555721837, rs769795916, rs1462578042, rs146412095, rs1553804220, rs1415346246, rs1553805740, rs1553804100, rs1275367324, rs886059965, rs1554081658, rs754982008, rs1554035330, rs1554050517, rs1554072027, rs756032160, rs77377082, rs79185772, rs775866092, rs1304504006, rs1193586811, rs1554082872, rs768881056, rs1554019966, rs1554247978, rs774393276, rs1554248617, rs766707325, rs756868889, rs1554249521, rs1437893220, rs770372463, rs749731714, rs1233811324, rs1554281038, rs757784023, rs551275210, rs750603177, rs769220870, rs1380083184, rs1554282583, rs763900107, rs769224534, rs747121305, rs1554822213, rs1555328087, rs1555327928, rs1233603821, rs745495583, rs1555527001, rs897911822, rs780116486, rs1421531868, rs746361802, rs1555968248, rs144037391, rs1305797678, rs1555071691, rs561237622, rs767760877, rs754773453, rs1555069023, rs372118787, rs774493427, rs1569237206, rs1560079213, rs1560086701, rs1560092440, rs1370489117, rs1561097225, rs914675446, rs748171209, rs1188507108, rs1561487416, rs1561073938, rs769691641, rs1561215953, rs1175877764, rs146087064, rs1561532139, rs574586008, rs1561117442, rs1444391928, rs145974361, rs1561836628, rs376903331, rs769929539, rs1436804091, rs1285431486, rs180897552, rs1562590250, rs1562684798, rs374107286, rs1562521048, rs1175443221, rs1563815206, rs753580394, rs1560090006, rs1560092160, rs778577109, rs1561122898, rs745885469, rs1561477725, rs757801770, rs1561524235, rs771956532, rs1391084505, rs769267893, rs1297857806, rs751920647, rs755782051, rs756616538, rs767713588, rs1297261096, rs768447289, rs374718437, rs1484826593, rs1561241156, rs769544175, rs565076112, rs1158185476, rs776176679, rs1562782355, rs1223799853, rs776791493, rs368248592, rs753649614, rs148810969, rs1346603171, rs371595543, rs1418585908, rs1567818236, rs761851970, rs748869874, rs766394527, rs753915759, rs1159887305, rs770403610, rs1240172375, rs764011276, rs770946088, rs764551914, rs1480671731, rs1568667609, rs1568709952, rs747233125, rs750658321, rs543369426, rs1569122408, rs1561449604, rs750649191, rs1564805053, rs1564805039, rs372959912, rs1564800859, rs577714887, rs766482965, rs1267599270, rs763238622, rs143007518, rs1567808990, rs969193071, rs867177356, rs1569162748, rs1561476089, rs377691013, rs1309805676, rs1569237077, rs1327282449, rs767308949, rs139416233, rs1567819753, rs1448501611, rs748600370, rs1601943268, rs750136163, rs1576941580, rs1256848235, rs747980515, rs1245822059, rs760742856, rs1579881985, rs762673561, rs1579942226, rs1579942510, rs1579980919, rs1580072662, rs369683202, rs1580150353, rs764948792, rs760595654, rs1580180757, rs1580203399, rs560398270, rs1309660408, rs981622980, rs1580363231, rs1580457416, rs767779749, rs116524991, rs1580543538, rs1580578744, rs1221785647, rs1252973555, rs1580809557, rs778780449, rs1164037667, rs1580853061, rs1580412021, rs1398588555, rs1561121987, rs753041231, rs748664881, rs1400425886, rs760122351, rs757935663, rs149070832, rs747123680, rs1582373132, rs1554149875, rs559143773, rs1583508118, rs949492765, rs1583567611, rs373946181, rs1237605731, rs756115857, rs1583806864, rs761855200, rs759332741, rs1489856215, rs201507046, rs1583517442, rs770251775, rs1586586381, rs369669370, rs1588663203, rs776979382, rs1003676784, rs1594608287, rs1489377964, rs1598330492, rs1598342751, rs755004291, rs1278589861, rs1277185772, rs763874734, rs753105954, rs373312648, rs369312501, rs1580179985, rs1580411207, rs1580465796, rs1579894454, rs1580143916, rs1582865345, rs200115379, rs372080325, rs1583570354, rs1583647043, rs72657354, rs767624733, rs1587089935, rs1587067513, rs1587091911, rs746849797, rs1598278059, rs1580731750, rs368110732, rs1597843267, rs1598348312, rs1217845018, rs1598372830, rs1598372841, rs1598372878, rs1598372791, rs1580402818, rs752527657, rs1601917999, rs1601922202, rs1601961064, rs1601982532, rs759302236, rs1597643228, rs1598293348, rs1601918140, rs745839898, rs1555961440, rs1601920423, rs907856232, rs281865302, rs1601972255, rs1601931052, rs1745570250, rs149368374, rs1601943325, rs1253689023, rs1575588483, rs1575215909, rs766982731, rs782603932, rs201244916, rs781864891, rs372955658, rs758482424, rs1601920532, rs1601924055, rs1601982474, rs1663812465, rs757823891, rs771057685, rs1711717951, rs1743041017, rs1744302993, rs1744309029, rs1744699899, rs1750171365, rs1750339039, rs1751962280, rs1752478598, rs1561215326, rs1264701182, rs1754234425, rs1465499923, rs1762460445, rs1762470883, rs148139814, rs760081822, rs1772369775, rs189080233, rs1778379197, rs1291689114, rs1176911729, rs769899297, rs1745583820, rs757303224, rs762267064, rs1416631904, rs749372718, rs72655998, rs756850884, rs765778415, rs1479385947, rs72658823, rs1162823375, rs370565524, rs746849639, rs973819096, rs1818211696, rs979934112, rs772133192, rs2051792816, rs2053367000, rs1567876609, rs2038617610, rs2085791151, rs770306950, rs2067876063, rs1468349011, rs1815572053, rs1268770869, rs1360420006, rs1772232595, rs774855011, rs1785786687, rs1788083949, rs2051550027, rs2037540861, rs753831132, rs937290981, rs766759197, rs1336208372, rs2067115815, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067140471, rs2067144007, rs2067146007, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169934, rs2067172824, rs2067174697, rs1233849070, rs2067182354, rs2067182636, rs2067184023, rs2067187127, rs2067187618, rs2067188031, rs2067191335, rs2067193056, rs2067194648, rs2067406342, rs2067451355, rs2067700774, rs2067878321, rs2067878443, rs1718119792, rs1704217868, rs1704650728, rs1273109738, rs1768634470, rs1769225531, rs1298746949, rs1784195520, rs1788086604, rs1789346276, rs2058179740, rs2038565518, rs781949585, rs2038760864, rs1718195095, rs1783569129, rs1739374011, rs2082305577, rs2067148119, rs2067166789, rs2067172385, rs2067179633, rs2067200470, rs2067498092, rs771953930	27637300, 25802884, 18022865, 24450482, 22184204, 26139845, 22102620, 20513915, 25186273, 18022865, 22102620, 12142464
Corneal dystrophy	Corneal dystrophy	rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Lung carcinoma	Carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	23103227
Multiple myeloma	Multiple Myeloma	rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962, rs751524927, rs1575079076, rs1575446356, rs1478603808, rs1578264146, rs1578673280, rs1579484570, rs1579491104, rs1171390403, rs1582867955, rs764264135, rs951047896, rs890521687, rs1581495906, rs1587941402, rs1003155450, rs1588299621, rs1591100766, rs1591693095, rs1029296641, rs1593107841, rs1208575764, rs1593835248, rs1594406727, rs1594966387, rs1595889508, rs1159294530, rs1597073318, rs1135402871, rs1599413207, rs1418268495, rs1212577459, rs1600394490, rs1455074519, rs1603113792, rs1603415028, rs1602247047, rs1603452612	23502783, 26007630, 23955597, 22120009
Amyloidosis	Primary amyloidosis	rs63750567, rs63750560, rs387906821, rs387906822, rs387906823, rs1561123748, rs140352180, rs770211260, rs763065333, rs1554300664, rs747723062, rs773435101	28025584
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Situs inversus	Situs inversus totalis	rs528302390, rs1596264554
Spontaneous pneumothorax	Spontaneous pneumothorax	rs80338682, rs137852929, rs750146811, rs886037608, rs886037609, rs886037610, rs398124526, rs398124542, rs368778627, rs786203218, rs1131690835, rs1567807517

Unknown
Disease name	Disease term	dbSNP ID	References
Acne	Acne
Allergic rhinitis	Allergic rhinitis (disorder)
Asthenozoospermia	Asthenozoospermia
Bronchitis	Acute bronchitis, Bronchitis, Chronic
Ciliary dyskinesia, with or without situs inversus	Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus
Ciliary dyskinesia, with situs inversus	CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS
Ciliopathies	Ciliopathies
Asplenia	Congenital absence of spleen
Congenital pectus excavatum	Congenital pectus excavatum
Coronary heart disease	Coronary heart disease	rs9289231, rs281864746	21347282, 19060911
Dyslexia	Dyslexia
Dyslipidemias	Dyslipidemias		19060911
High palate	Byzanthine arch palate
Lung diseases	Lung diseases, Lung Diseases, Obstructive, Chronic lung disease
Monoclonal gammapathies	Monoclonal Gammopathy of Undetermined Significance		26007630
Nasal polyposis	Nasal Polyps
Otitis media	Otitis Media with Effusion, Chronic otitis media, Recurrent otitis media	rs601338, rs1047781, rs1800028
Paraproteinemia	Paraproteinemias		26007630
Pleural effusion	Pleural effusion disorder
Pleuritis	Pleurisy
Rhinitis	Rhinitis
Sinusitis	Chronic sinusitis, Recurrent sinusitis
Stomach carcinoma	Stomach Carcinoma		23103227