DOCK8 (dedicator of cytokinesis 8)

Gene

• Entrez ID: 81704
• Gene name: Dedicator of cytokinesis 8
• Gene symbol: DOCK8
• Synonyms (NCBI Gene): HEL-205, HIES2, MRD2, ZIR8
• Disease Acronyms (UniProt): HIES2, MRD2
• Chromosome: 9
• Chromosome location: 9p24.3
• Summary: This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal r

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs16937932	C>A,T	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs34390308	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs112321280	A>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs113432057	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs113944762	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs116920018	A>G	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Coding sequence variant, missense variant
rs117109271	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs139391329	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs148081681	C>A,G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149065013	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs150298985	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs192864327	G>C,T	Likely-pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Splice acceptor variant, genic upstream transcript variant, upstream transcript variant
rs749633690	A>G	Likely-pathogenic	Splice acceptor variant
rs756871628	T>C	Likely-pathogenic	Splice donor variant
rs762990689	CT>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs775544616	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, stop gained
rs776399238	A>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs777066716	G>A	Pathogenic	Splice acceptor variant
rs786205596	A>C	Likely-pathogenic	Intron variant
rs869312169	->T	Pathogenic	Coding sequence variant, frameshift variant
rs886037645	->TGGCTGCT	Pathogenic	Coding sequence variant, frameshift variant
rs886041535	G>A	Pathogenic	Splice acceptor variant
rs886041815	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518028	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1064793335	->TTGAACT	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1476130680	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554655653	G>-	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554668061	->A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554687151	GTCTTAC>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554701472	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554707993	C>A	Pathogenic	Coding sequence variant, stop gained
rs1564025732	G>A	Likely-pathogenic	Splice donor variant
rs1586940273	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1587143342	G>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT943025	hsa-miR-183	CLIP-seq
MIRT943026	hsa-miR-1911	CLIP-seq
MIRT943027	hsa-miR-203	CLIP-seq
MIRT943028	hsa-miR-219-2-3p	CLIP-seq
MIRT943029	hsa-miR-3125	CLIP-seq
MIRT943030	hsa-miR-361-3p	CLIP-seq
MIRT943031	hsa-miR-3646	CLIP-seq
MIRT943032	hsa-miR-3663-5p	CLIP-seq
MIRT943033	hsa-miR-3671	CLIP-seq
MIRT943034	hsa-miR-3916	CLIP-seq
MIRT943035	hsa-miR-4258	CLIP-seq
MIRT943036	hsa-miR-4470	CLIP-seq
MIRT943037	hsa-miR-4640-5p	CLIP-seq
MIRT943038	hsa-miR-4691-5p	CLIP-seq
MIRT943039	hsa-miR-4726-5p	CLIP-seq
MIRT943040	hsa-miR-4756-3p	CLIP-seq
MIRT943041	hsa-miR-4766-5p	CLIP-seq
MIRT943042	hsa-miR-4795-3p	CLIP-seq
MIRT943043	hsa-miR-548c-3p	CLIP-seq
MIRT943044	hsa-miR-570	CLIP-seq
MIRT943045	hsa-miR-587	CLIP-seq
MIRT943046	hsa-miR-607	CLIP-seq
MIRT943047	hsa-miR-656	CLIP-seq
MIRT943048	hsa-miR-660	CLIP-seq
MIRT943049	hsa-miR-759	CLIP-seq
MIRT1979232	hsa-miR-1343	CLIP-seq
MIRT1979233	hsa-miR-2115	CLIP-seq
MIRT943030	hsa-miR-361-3p	CLIP-seq
MIRT943035	hsa-miR-4258	CLIP-seq
MIRT943038	hsa-miR-4691-5p	CLIP-seq
MIRT2214345	hsa-miR-4677-3p	CLIP-seq
MIRT2214346	hsa-miR-4679	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001771	Process	Immunological synapse formation	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	28028151
GO:0005515	Function	Protein binding	IPI	22581261, 24255178, 25416956, 26871637, 28028151, 28514442, 31515488, 32203420
GO:0005737	Component	Cytoplasm	IDA	28028151
GO:0005829	Component	Cytosol	TAS
GO:0007264	Process	Small GTPase mediated signal transduction	IEA
GO:0007596	Process	Blood coagulation	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0031256	Component	Leading edge membrane	IDA	28028151
GO:0031258	Component	Lamellipodium membrane	IEA
GO:0036336	Process	Dendritic cell migration	IEA
GO:0043547	Process	Positive regulation of GTPase activity	IDA	28028151
GO:0061485	Process	Memory T cell proliferation	IMP	22006977
GO:0070233	Process	Negative regulation of T cell apoptotic process	IEA
GO:1903905	Process	Positive regulation of establishment of T cell polarity	IMP	28028151
GO:1990869	Process	Cellular response to chemokine	IMP	28028151
GO:2000406	Process	Positive regulation of T cell migration	IMP	28028151

Other IDs

• MIM: 611432
• HGNC: 19191
• e!Ensembl: ENSG00000107099

Protein

• UniProt ID: Q8NF50
• Protein name: Dedicator of cytokinesis protein 8
• Protein function: Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP (PubMed:22461490, PubMed:28028151). During immune responses, required for interstitial dendritic cell (DC) migration by
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11878	DUF3398	56 → 166	Domain of unknown function (DUF3398)	Domain
  PF14429	DOCK-C2	556 → 738	C2 domain in Dock180 and Zizimin proteins	Domain
  PF06920	DHR-2	1534 → 2059	Dock homology region 2	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in peripheral blood mononuclear cells (PBMCs). {ECO:0000269|PubMed:28028151}.
• Sequence:

  MATLPSAERRAFALKINRYSSAEIRKQFTLPPNLGQYHRQSISTSGFPSLQLPQFYDPVE
  PVDFEGLLMTHLNSLDVQLAQELGDFTDDDLDVVFTPKECRTLQPSLPEEGVELDPHVRD
  CVQTYIREWLIVNRKNQGSPEICGFKKTGSRKDFHKTLPKQTFESETLECSEPAAQAGPR
  HLNVLCDVSGKGPVTACDFDLRSLQPDKRLENLLQQVSAEDFEKQNEEARRTNRQAELFA
  LYPSVDEEDAVEIRPVPECPKEHLGNRILVKLLTLKFEIEIEPLFASIALYDVKERKKIS
  ENFHCDLNSDQFKGFLRAHTPSVAASSQARSAVFSVTYPSSDIYLVVKIEKVLQQGEIGD
  CAEPYTVIKESDGGKSKEKIEKLKLQAESFCQRLGKYRMPFAWAPISLSSFFNVSTLERE
  VTDVDSVVGRSSVGERRTLAQSRRLSERALSLEENGVGSNFKTSTLSVSSFFKQEGDRLS
  DEDLFKFLADYKRSSSLQRRVKSIPGLLRLEISTAPEIINCCLTPEMLPVKPFPENRTRP
  HKEILEFPTREVYVPHTVYRNLLYVYPQRLNFVNKLASARNITIKIQFMCGEDASNAMPV
  IFGKSSGPEFLQEVYTAVTYHNKSPDFYEEVKIKLPAKLTVNHHLLFTFYHISCQQKQGA
  SVETLLGYSWLPILLNERLQTGSYCLPVALEKLPPNYSMHSAEKVPLQNPPIKWAEGHKG
  VFNIEVQAVSSVHTQDNHLEKFFTLCHSLESQVTFPIRVLDQKISEMALEHELKLSIICL
  NSSRLEPLVLFLHLVLDKLFQLSVQPMVIAGQTANFSQFAFESVVAIANSLHNSKDLSKD
  QHGRNCLLASYVHYVFRLPEVQRDVPKSGAPTALLDPRSYHTYGRTSAAAVSSKLLQARV
  MSSSNPDLAGTHSAADEEVKNIMSSKIADRNCSRMSYYCSGSSDAPSSPAAPRPASKKHF
  HEELALQMVVSTGMVRETVFKYAWFFFELLVKSMAQHVHNMDKRDSFRRTRFSDRFMDDI
  TTIVNVVTSEIAALLVKPQKENEQAEKMNISLAFFLYDLLSLMDRGFVFNLIRHYCSQLS
  AKLSNLPTLISMRLEFLRILCSHEHYLNLNLFFMNADTAPTSPCPSISSQNSSSCSSFQD
  QKIASMFDLTSEYRQQHFLTGLLFTELAAALDAEGEGISKVQRKAVSAIHSLLSSHDLDP
  RCVKPEVKVKIAALYLPLVGIILDALPQLCDFTVADTRRYRTSGSDEEQEGAGAINQNVA
  LAIAGNNFNLKTSGIVLSSLPYKQYNMLNADTTRNLMICFLWIMKNADQSLIRKWIADLP
  STQLNRILDLLFICVLCFEYKGKQSSDKVSTQVLQKSRDVKARLEEALLRGEGARGEMMR
  RRAPGNDRFPGLNENLRWKKEQTHWRQANEKLDKTKAELDQEALISGNLATEAHLIILDM
  QENIIQASSALDCKDSLLGGVLRVLVNSLNCDQSTTYLTHCFATLRALIAKFGDLLFEEE
  VEQCFDLCHQVLHHCSSSMDVTRSQACATLYLLMRFSFGATSNFARVKMQVTMSLASLVG
  RAPDFNEEHLRRSLRTILAYSEEDTAMQMTPFPTQVEELLCNLNSILYDTVKMREFQEDP
  EMLMDLMYRIAKSYQASPDLRLTWLQNMAEKHTKKKCYTEAAMCLVHAAALVAEYLSMLE
  DHSYLPVGSVSFQNISSNVLEESVVSEDTLSPDEDGVCAGQYFTESGLVGLLEQAAELFS
  TGGLYETVNEVYKLVIPILEAHREFRKLTLTHSKLQRAFDSIVNKDHKRMFGTYFRVGFF
  GSKFGDLDEQEFVYKEPAITKLPEISHRLEAFYGQCFGAEFVEVIKDSTPVDKTKLDPNK
  AYIQITFVEPYFDEYEMKDRVTYFEKNFNLRRFMYTTPFTLEGRPRGELHEQYRRNTVLT
  TMHAFPYIKTRISVIQKEEFVLTPIEVAIEDMKKKTLQLAVAINQEPPDAKMLQMVLQGS
  VGATVNQGPLEVAQVFLAEIPADPKLYRHHNKLRLCFKEFIMRCGEAVEKNKRLITADQR
  EYQQELKKNYNKLKENLRPMIERKIPELYKPIFRVESQKRDSFHRSSFRKCETQLSQGS

• Sequence length: 2099

Pathways

Reactome:

Factors involved in megakaryocyte development and platelet production

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259
Dermatitis	Dermatitis, Atopic	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174
Mental retardation	Profound Mental Retardation, Mental deficiency, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	18060736
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Melanoma	Cutaneous Melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	30429480
Neuroblastoma	Neuroblastoma	rs113994087, rs113994089, rs281864719, rs863225285, rs863225284, rs863225283, rs281864720, rs863225282, rs863225281, rs1057519698, rs915983602, rs1469271544	26121086
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059	28191889
Non-syndromic intellectual disability	Autosomal dominant non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Severe combined immunodeficiency disease	Combined immunodeficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	25724123

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma			ClinVar
Malignant melanoma of skin	Malignant melanoma of skin of lower limb, Malignant melanoma of skin of upper limb		30429480	ClinVar
Otitis media	Chronic otitis media			ClinVar
Immunodeficiency	combined immunodeficiency due to DOCK8 deficiency			GenCC
Non-Syndromic Intellectual Disability	autosomal dominant non-syndromic intellectual disability			GenCC
Neurodevelopmental Disorders	complex neurodevelopmental disorder			GenCC
Neuroticism	Neuroticism			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Uterine Fibroids	Uterine Fibroids			GWAS
Coronary artery disease	Coronary artery disease			GWAS
Crohn Disease	Crohn Disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	33910393
Asthma	Stimulate	37569643
Autism Spectrum Disorder	Associate	27824329, 33455084
Autistic Disorder	Associate	27824329
Autoimmune Diseases	Associate	36263058
Breast Neoplasms	Associate	33503040
Carcinoma Hepatocellular	Associate	19640199, 25428919
Carcinoma Pancreatic Ductal	Associate	37651233
Cerebral Infarction	Associate	38175286
Cholangitis Sclerosing	Associate	33936120
Common Variable Immunodeficiency	Associate	29867916
Communication Disorders	Associate	29930340
Cytomegalovirus Retinitis	Associate	35822685
Demyelinating Diseases	Associate	34301197
Dermatitis Atopic	Associate	20004785, 36768728
Developmental Disabilities	Associate	18060736, 29930340, 33455084
Diastrophic dysplasia	Associate	33455084
Drug Hypersensitivity	Associate	23455509, 24797421, 25724123, 33290277, 34657245
Eczema	Associate	30391550, 34080085, 34657245
Encephalitis	Associate	27113444
Eosinophilia	Associate	34080085
Epilepsy	Associate	33455084
Epstein Barr Virus Infections	Associate	31267431
Exanthema	Associate	34301197
Facial Paralysis	Associate	34301197
Fatigue	Associate	27113444
Fetal Growth Retardation	Associate	23981964
Food Hypersensitivity	Associate	34080085
Gait Disorders Neurologic	Associate	32372632
Hallucinations	Associate	27113444
Hyperkinesis	Associate	33455084
Hypersensitivity Immediate	Associate	32108967
Ige Responsiveness Atopic	Associate	24797421
Immune System Diseases	Associate	35482138, 36952639
Immunologic Deficiency Syndromes	Associate	20004785, 23455509, 24440647, 24743019, 24797421, 25600604, 33290277, 37114940
Immunologic Deficiency Syndromes	Inhibit	22476911, 34657245
Infections	Associate	24743019, 33290277, 34080085, 34657245
Inflammatory Bowel Diseases	Associate	32084423
Intellectual Disability	Associate	18060736, 33455084
Job Syndrome	Associate	20004785, 24698316, 24743019, 25724123, 26680607, 27350570, 30425284, 30732127, 32372632, 34301197, 34657245, 35822685
Job Syndrome	Inhibit	27113444
Language Disorders	Associate	33455084
Learning Disabilities	Associate	33455084
Leukemia B Cell	Associate	31267431
Leukoencephalopathy Progressive Multifocal	Associate	25388448
Liver Diseases	Associate	37851406
Lung Abscess	Associate	34301197
Lymphoma Large B Cell Diffuse	Associate	31267431
Lymphopenia	Associate	21931011
Lymphoproliferative Disorders	Associate	32108967
Mental Disorders	Associate	29930340
Mental Retardation Autosomal Dominant 1	Associate	18060736
Microphthalmia Syndromic 10	Associate	34301197
Mood Disorders	Associate	29930340
Muscle Hypertonia	Associate	34301197
Neoplasms	Associate	23380217, 24797421, 30391550, 31267431, 33503040, 34657245
Neoplasms	Inhibit	33290277, 33910393
Nose Diseases	Associate	32372632
Pancreatic Neoplasms	Associate	37651233
Papilloma	Associate	24743019
Personality Disorders	Associate	29930340
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	31267431
Primary Immunodeficiency Diseases	Associate	21931011, 23380217, 25762780, 26680607
Primary Immunodeficiency Diseases	Inhibit	27113444
Purpura Thrombocytopenic Idiopathic	Associate	33936120
Respiratory Tract Infections	Associate	25724123
Severe Combined Immunodeficiency	Associate	34657245
Squamous Cell Carcinoma of Head and Neck	Associate	33910393
Strabismus	Associate	27113444
Stroke	Associate	27113444
Vasculitis Central Nervous System	Associate	27113444
Virus Diseases	Associate	20004785, 23380217, 23455509, 25600604, 25724123, 33290277
Wiskott Aldrich Syndrome	Associate	23455509
X Linked Combined Immunodeficiency Diseases	Associate	25724123, 26680607, 30391550, 31267431, 32108967, 33936120, 34080085
Young Syndrome	Associate	34080085