DNAH8 (dynein axonemal heavy chain 8)

Gene

• Entrez ID: 1769
• Gene name: Dynein axonemal heavy chain 8
• Gene symbol: DNAH8
• Synonyms (NCBI Gene): ATPase, SPGF46, hdhc9
• Disease Acronyms (UniProt): SPGF46
• Chromosome: 6
• Chromosome location: 6p21.2
• Summary: The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144711161	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs145974361	G>A	Likely-pathogenic	Splice donor variant
rs149070832	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs200115379	A>C,G	Likely-pathogenic	Splice acceptor variant
rs376576474	G>A	Likely-pathogenic	Splice donor variant
rs567050969	C>T	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant
rs749731714	T>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs753496815	->GA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs756616538	G>A	Likely-pathogenic	Splice donor variant
rs766256391	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs766707325	GACCCAT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs770372463	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs776176679	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs1561836628	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1562782355	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1582865345	G>A	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT038978	hsa-miR-19b-1-5p	CLASH	23622248
MIRT646439	hsa-miR-8485	HITS-CLIP	23824327
MIRT646438	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT646437	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT646436	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT646435	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT646434	hsa-miR-4420	HITS-CLIP	23824327
MIRT646439	hsa-miR-8485	HITS-CLIP	23824327
MIRT646438	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT646437	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT646436	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT646435	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT646434	hsa-miR-4420	HITS-CLIP	23824327
MIRT2213319	hsa-miR-1265	CLIP-seq
MIRT2213320	hsa-miR-2392	CLIP-seq
MIRT2213321	hsa-miR-651	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003777	Function	Microtubule motor activity	NAS	9373155
GO:0005524	Function	ATP binding	IEA
GO:0005858	Component	Axonemal dynein complex	NAS	9373155
GO:0005874	Component	Microtubule	IEA
GO:0005930	Component	Axoneme	IDA	31178125
GO:0007018	Process	Microtubule-based movement	IBA	21873635
GO:0008569	Function	ATP-dependent microtubule motor activity, minus-end-directed	IBA	21873635
GO:0030286	Component	Dynein complex	IBA	21873635
GO:0036126	Component	Sperm flagellum	IDA	31178125
GO:0036157	Component	Outer dynein arm	IBA	21873635
GO:0036158	Process	Outer dynein arm assembly	IBA	21873635
GO:0045505	Function	Dynein intermediate chain binding	IBA	21873635
GO:0051959	Function	Dynein light intermediate chain binding	IBA	21873635
GO:0060285	Process	Cilium-dependent cell motility	NAS	9373155

Other IDs

• MIM: 603337
• HGNC: 2952
• e!Ensembl: ENSG00000124721

Protein

• UniProt ID: Q96JB1
• Protein name: Dynein axonemal heavy chain 8 (Axonemal beta dynein heavy chain 8) (Ciliary dynein heavy chain 8)
• Protein function: Force generating protein component of the outer dynein arms (ODAs) in the sperm flagellum. 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	139 → 693	Dynein heavy chain, N-terminal region 1	Family
  PF08393	DHC_N2	1268 → 1673	Dynein heavy chain, N-terminal region 2	Family
  PF12774	AAA_6	1808 → 2135	Hydrolytic ATP binding site of dynein motor region	Domain
  PF17852	Dynein_AAA_lid	2290 → 2410	Dynein heavy chain AAA lid domain	Domain
  PF12775	AAA_7	2417 → 2598		Domain
  PF17857	AAA_lid_1	2632 → 2727	AAA+ lid domain	Domain
  PF12780	AAA_8	2790 → 3052	P-loop containing dynein motor region D4	Domain
  PF12777	MT	3065 → 3415	Microtubule-binding stalk of dynein motor	Domain
  PF12781	AAA_9	3439 → 3660	ATP-binding dynein motor region	Domain
  PF03028	Dynein_heavy	3905 → 4015	Dynein heavy chain region D6 P-loop domain	Domain
  PF18198	AAA_lid_11	4029 → 4185	Dynein heavy chain AAA lid domain	Domain
  PF18199	Dynein_C	4191 → 4487	Dynein heavy chain C-terminal domain	Domain

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

  MMKLYIDNAAPDKLKGLCIFFVRCRNDVAINVKTIQEEALFTVLDASKGLLNGIRDMLAN
  IFLPAVLATNNWGALNQSKQGESEKHIFTETINRYLSFLDGARISIEGTVKLKTIDNVNF
  SKLHTFEEVTAAASNSETVHQLEEVLMVWYKQIEQVLIESEQMRKEAGDSGPLTELEHWK
  RMSAKFNYIIEQIKGPSCKAVINVLNVAHSKLLKNWRDLDARITDTANESKDNVRYLYTL
  EKVCQPLYNHDLVSMAHGIQNLINAIRMIHGVSRYYNTSERMTSLFIKVTNQMVTACKAY
  ITDGGLNHVWDQETPVVLKKIQDCIFLFKEYQASFHKTRKLISESSGEKSFEVSEMYIFG
  KFEAFCKRLEKITEMITVVQTYSTLSNSTIEGIDIMAIKFRNIYQGVKKKQYDILDPRRT
  EFDTDFLDFMTKINGLEVQIQAFMNSSFGKILSSQQALQLLQRFQKLNIPCLGLEINHTI
  ERILQYYVAELDATKKLYHSQKDDPPLARNMPPIAGKILWVRQLYRRISEPINYFFKNSD
  ILSSPDGKAVIRQYNKISYVLVEFEVVYHTAWIREISQLHYALQATLFVRHPETGKLLVN
  FDPKILEVVRETKCMIKMKLDVPEQAKRLLKLESKLKADKLYLQGLLQYYDELCQEVPSV
  FVNLMTPKMKKVESVLRQGLTVLTWSSLTLESFFQEVELVLDMFNQLLKKISDLCEMHID
  TVLKEIAKTVLISLPESGATKVEDMLTLNETYTKEWADILNHKSKHVEEAVRELISIFEQ
  IYEVKYTGKVGKQSEQRKHVVFGSETGEGENNDYEANIVNEFDTHDKEDEFKKECKEVFA
  FFSHQLLDSLQKATRLSLDTMKRRIFVASLYGRKQSEDIISFIKSEVHLAIPNVVMIPSL
  DDIQQAINRMIQLTLEVSRGVAHWGQQQIRPIKSVIPSPTTTDVTHQNTGKLLKKEERSF
  EEAIPARKLKNFYPGVAEHKDISKLVLLLSSSVNSLRKAAHEALQDFQKYKTLWTEDRDV
  KVKEFLANNPSLTEIRSEILHYATFEQEIDELKPIIVVGALELHTEPMKLALSIEAKAWK
  MLLCRYLNEEYKKKMSYMIAFINEYLKKLSRPIRDLDDVRFAMEALSCIRDNEIQMDMTL
  GPIEEAYAILNRFEVEVTKEESEAVDTLRYSFNKLQSKAVSVQEDLVQVQPKFKSNLLES
  VEVFREDVINFAEAYELEGPMVPNIPPQEASNRLQIFQASFDDLWRKFVTYSSGEQLFGL
  PVTDYEVLHKTRKELNLLQKLYGLYDTVMSSISGYYEILWGDVDIEKINAELLEFQNRCR
  KLPKGLKDWQAFLDLKKRIDDFSESCPLLEMMTNKAMKQRHWDRISELTGTPFDVESDSF
  CLRNIMEAPLLKHKDDIEDICISAIKEKDIEAKLTQVIENWTNQNLSFAAFKGKGELLLK
  GTESGEIITLMEDSLMVLGSLLSNRYNAPFKKNIQNWVYKLSTSSDIIEEWLVVQNLWVY
  LEAVFVGGDIAKQLPQEAKRFQNIDKSWIKIMQRAHENPNVINCCVGDETMGQLLPHLHE
  QLEVCQKSLTGYLEKKRLLFPRFFFVSDPVLLEILGQASDSHTIQPHLPAVSDNINEVTF
  HAKDYDRIMAVISREGEKIVLDNSVMAKGPVEIWLLDLLKMQMSSLHNIIRSAFYQISDS
  GFQLLPFLSHFPAQVGLLGIQMLWTHDSEEALRNAKDDRKIMQVTNQKFLDILNTLISQT
  THDLSKFDRVKFETLITIHVHQRDIFDDLVKMHIKSPTDFEWLKQSRFYFKEDLDQTVVS
  ITDVDFIYQNEFLGCTDRLVITPLTDRCYITLAQALGMNMGGAPAGPAGTGKTETTKDMG
  RCLGKYVVVFNCSDQMDFRGLGRIFKGLAQSGSWGCFDEFNRIELPVLSVAAQQIYIVLT
  ARKERKKQFIFSDGDCVDLNPEFGIFLTMNPGYAGRQELPENLKIQFRTVAMMVPDRQII
  MRVKLASCGFLENVILAQKFYVLYKLCEEQLTKQVHYDFGLRNILSVLRTLGSQKRARPE
  DSELSIVMRGLRDMNLSKLVDEDEPLFLSLINDLFPGLQLDSNTYAELQNAVAHQVQIEG
  LINHPPWNLKLVQLYETSLVRHGLMTLGPSGSGKTTVITILMKAQTECGRPHREMRMNPK
  AITAPQMFGRLDTATNDWTDGIFSTLWRKTLKAKKGENIFLILDGPVDAIWIENLNSVLD
  DNKTLTLANGDRIPMAPSCKLLFEVHNIENASPATVSRMGMVYISSSALSWRPILQAWLK
  KRTAQEAAVFLTLYEKVFEDTYTYMKLNLNPKMQLLECNYIVQSLNLLEGLIPSKEEGGV
  SCVEHLHKLFVFGLMWSLGALLELESREKLEAFLRQHESKLDLPEIPKGSNQTMYEFYVT
  DYGDWEHWNKKLQPYYYPTDSIPEYSSILVPNVDNIRTNFLIDTIAKQHKAVLLTGEQGT
  AKTVMVKAYLKKYDPEVQLSKSLNFSSATEPMMFQRTIESYVDKRIGSTYGPPGGRKMTV
  FIDDINMPVINEWGDQITNEIVRQMMEMEGMYSLDKPGDFTTIVDVQLIAAMIHPGGGRN
  DIPQRLKRQFTVFNCTLPSNASIDKIFGIIGCGYFDPCRSFKPQICEMIVNLVSVGRVLW
  QWTKVKMLPTPSKFHYIFNLRDLSRIWQGMLTIKAEECASIPTLLSLFKHECSRVIADRF
  ITPEDEQWFNAHLTRAVEENIGSDAASCILPEPYFVDFLREMPEPTGDEPEDSVFEVPKI
  YELMPSFDFLAEKLQFYQRQFNEIIRGTSLDLVFFKDAMTHLIKISRIIRTSCGNALLVG
  VGGSGKQSLSRLASFIAGYQIFQITLTRSYNVTNLTDDLKALYKVAGADGKGITFIFTDS
  EIKDEAFLEYLNNLLSSGEISNLFARDEMDEITQGLISVMKRELPRHPPTFDNLYEYFIS
  RSRKNLHVVLCFSPVGEKFRARSLKFPGLISGCTMDWFSRWPREALIAVASYFLSDYNIV
  CSSEIKRQVVETMGLFHDMVSESCESYFQRYRRRAHVTPKSYLSFINGYKNIYAEKVKFI
  NEQAERMNIGLDKLMEASESVAKLSQDLAVKEKELAVASIKADEVLAEVTVSAQASAKIK
  NEVQEVKDKAQKIVDEIDSEKVKAESKLEAAKPALEEAEAALNTIKPNDIATVRKLAKPP
  HLIMRIMDCVLLLFQKKIDPVTMDPEKSCCKPSWGESLKLMSATGFLWSLQQFPKDTINE
  ETVELLQPYFNMDDYTFESAKKVCGNVAGLLSWTLAMAIFYGINREVLPLKANLAKQEGR
  LAVANAELGKAQALLDEKQAELDKVQAKFDAAMNEKMDLLNDADTCRKKMQAASTLIDGL
  SGEKIRWTQQSKEFKAQINRLVGDILLCTGFLSYLGPFNQIFRNYLLKDQWEMELRARKI
  PFTENLNLISMLVDPPTIGEWGLQGLPGDDLSIQNGIIVTKATRYPLLIDPQTQGKTWIK
  SKEKENDLQVTSLNHKYFRTHLEDSLSLGRPLLIEDIHEELDPALDNVLEKNFIKSGTTF
  KVKVGDKECDIMDTFKLYITTKLPNPAFTPEINAKTSVIDFTVTMKGLENQLLRRVILTE
  KQELEAERVKLLEDVTFNKRKMKELEDNLLYKLSATKGSLVDDESLIGVLRTTKQTAAEV
  SEKLHVAAETEIKINAAQEEFRPAATRGSILYFLITEMSMVNIMYQTSLAQFLKLFDQSM
  ARSEKSPLPQKRITNIIEYLTYEVFTYSVRGLYENHKFLFVLLMTLKIDLQRGTVKHREF
  QALIKGGAALDLKACPPKPYRWILDMTWLNLVELSKLPQFAEIMNQISRNEKGWKSWFDK
  DAPEEEIIPDGYNDSLDTCHKLLLIRSWCPDRTVFQARKYIADSLEEKYTEPVILNLEKT
  WEESDTRTPLICFLSMGSDPTNQIDALAKKLKLECRTISMGQGQEVHARKLIQMSMQQGG
  WVLLQNCHLGLEFMEELLETLITTEASDDSFRVWITTEPHDRFPITLLQTSLKFTNEPPQ
  GVRAGLKRTFAGINQDLLDISNLPMWKPMLYTVAFLHSTVQERRKFGPLGWNIPYEFNSA
  DFSASVQFIQNHLDECDIKKGVSWNTVRYMIGEVQYGGRVTDDFDKRLLNCFARVWFSEK
  MFEPSFCFYTGYKIPLCKTLDQYFEYIQSLPSLDNPEVFGLHPNADITYQSNTASAVLET
  ITNIQPKESGGGVGETREAIVYRLSEDMLSKLPPDYIPHEVKSRLIKMGHLNSMNIFLRQ
  EIDRMQRVISILRSSLSDLKLAIEGTIIMSENLRDALDNMYDARIPQLWKRVSWDSSTLG
  FWFTELLERNAQFSTWIFEGRPNVFWMTGFFNPQGFLTAMRQEVTRAHKGWALDTVTIHN
  EVLRQTKEEITSPPGEGVYIYGLYMDGAAWDRRNGKLMESTPKVLFTQLPVLHIFAINST
  APKDPKLYVCPIYKKPRRTDLTFITVVYLRTVLSPDHWILRGVALLCDIK

• Sequence length: 4490

Pathways

KEGG:

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

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Ciliary dyskinesia	Ciliary Motility Disorders, Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	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	24307375
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137

Unknown
Disease term	Disease name	Evidence	References	Source
Spermatogenic Failure	spermatogenic failure 5, spermatogenic failure 46			GenCC
Diabetes	Diabetes			GWAS
Heart Failure	Heart Failure			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Multiple	Associate	33704367, 36308074
Acidosis Renal Tubular	Associate	18632794
Amyotrophic Lateral Sclerosis	Associate	26475856
Asthenozoospermia	Associate	33611675, 37417617
Ataxia	Associate	28807751
Bipolar Disorder	Associate	20872768
Bloom Syndrome	Associate	17878217, 19671661
Breast Neoplasms	Associate	19889640, 23639630, 34329194, 9774623
Carcinoma Hepatocellular	Associate	23233483, 30981109
Carcinoma Pancreatic Ductal	Associate	36319832
Carcinoma Renal Cell	Associate	34870494
Carcinoma Small Cell	Associate	32649682, 6147348
Cardiomyopathy Dilated	Associate	31578282
Cardiomyopathy Hypertrophic Familial	Associate	8981935
Cerebellar Ataxia	Associate	28807751, 35110381
Cerebellar Diseases	Associate	22892528
Ciliary Motility Disorders	Associate	24307375, 37998386
Colorectal Neoplasms	Associate	15063740, 33476933
Colorectal Neoplasms	Stimulate	35754345
Congenital disorder of glycosylation type 1A	Associate	28807751
Congenital Disorders of Glycosylation	Associate	28807751
Deafness Cataract Retinitis Pigmentosa And Sperm Abnormalities	Associate	33704367
Developmental Disabilities	Associate	32693025
Diabetes Mellitus Transient Neonatal 1	Associate	18025464, 23665564
Diabetes Mellitus Type 2	Associate	23665564
Distal myopathy Nonaka type	Associate	19506019, 22270372, 26475856
Drug Related Side Effects and Adverse Reactions	Associate	35220010
Dystonia	Associate	28871039, 35110381
Endometriosis	Associate	25276049
Epilepsy	Stimulate	32748370
Facioscapulohumeral Muscular Dystrophy 1B	Associate	31312724
Familial Primary Pulmonary Hypertension	Associate	22792409
Frontotemporal Dementia	Associate	22270372, 26475856
Gastritis Atrophic	Associate	34944008
Genetic Diseases Inborn	Associate	34360842
Glioblastoma	Associate	35220010
Growth Disorders	Associate	32693025
Heart Diseases	Associate	12151382, 23515276
Heart Failure	Associate	36834924
Hepatolenticular Degeneration	Associate	11415452, 12968035, 14514926, 15205462, 17634212, 18974300, 19364131
Heredodegenerative Disorders Nervous System	Associate	31701538
Hyperaldosteronism	Associate	33796077
Inclusion Body Myopathy With Early Onset Paget Disease And Frontotemporal Dementia	Associate	34360842
Infertility Male	Associate	33611675, 33704367
Influenza Human	Associate	22393008
Kufor Rakeb syndrome	Associate	37080960
Leigh Disease	Associate	15146020, 15228605, 9221962
Leukemia Lymphocytic Chronic B Cell	Associate	17480228
Leukemia Myeloid Acute	Associate	31178587
Liver Failure Acute	Associate	24630891
Liver Neoplasms	Associate	34360842
Lung Neoplasms	Associate	31883965, 40311306
Melanoma	Associate	19784067
MELAS Syndrome	Associate	9221962
Migraine with Aura	Associate	35110381
Mitochondrial Diseases	Associate	9221962
Mitochondrial Encephalomyopathies	Associate	19735676
Moyamoya Disease	Associate	24658080
Muscle Hypotonia	Associate	28807751
Myocardial Infarction	Associate	28728608
Myopathy Myosin Storage	Associate	8981935
Neoplasms	Associate	23233483, 24439526, 24878061, 26139243, 27363033, 30647132, 31883965, 34520757, 35607442, 37197441
Nervous System Diseases	Associate	34059105, 35132656
Neurodegenerative Diseases	Associate	24878061, 26475856, 36316435
Nystagmus Pathologic	Associate	28807751
Osteitis Deformans	Associate	26475856
Ovarian Cysts	Associate	33235102
Ovarian Neoplasms	Associate	25686833, 29559470
Pancreatitis Acute Necrotizing	Associate	9221962
Parkinson Disease	Associate	19097176
Parkinson Disease Secondary	Associate	31132336
Peripheral Nervous System Diseases	Associate	34059105
Plagiocephaly and X linked mental retardation	Associate	32693025
Polyomavirus Infections	Associate	19200446
Positive Pressure Respiration Intrinsic	Associate	21310790
Prostatic Neoplasms	Associate	27363033, 37301535
Pulmonary Disease Chronic Obstructive	Associate	26736064
Respiratory Distress Syndrome	Associate	27374344, 36480289
Respiratory Insufficiency	Associate	22532554
Retinitis Pigmentosa	Associate	27072132
Sarcoidosis	Associate	21310790
Schimke immunoosseous dysplasia	Associate	18974355, 26195148
Sitosterolemia	Associate	33228147
Spastic Paraplegia Hereditary	Associate	36316435
Stroke	Associate	24344137
Thyroid Cancer Papillary	Associate	26079849
Trichohepatoenteric Syndrome	Associate	20176027
Triosephosphate Isomerase Deficiency	Stimulate	9294216
Tuberculosis Multidrug Resistant	Associate	26902225