Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	81704
Gene name	Dedicator of cytokinesis 8
Gene symbol	DOCK8
Synonyms (NCBI Gene)	HEL-205HIES2MRD2ZIR8
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

Show/Hide all (34)

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

Show/Hide all (32)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001771	Process	Immunological synapse formation	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	28028151
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	22581261, 24255178, 25416956, 26871637, 28028151, 28514442, 31515488, 32203420, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IDA	28028151
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0031252	Component	Cell leading edge	IBA
GO:0031252	Component	Cell leading edge	IEA
GO:0031256	Component	Leading edge membrane	IDA	28028151
GO:0031258	Component	Lamellipodium membrane	IEA
GO:0035023	Process	Regulation of Rho protein signal transduction	IBA
GO:0036336	Process	Dendritic cell migration	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043547	Process	Positive regulation of GTPase activity	IDA	28028151
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
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	IBA
GO:1903905	Process	Positive regulation of establishment of T cell polarity	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	IBA
GO:2000406	Process	Positive regulation of T cell migration	IEA
GO:2000406	Process	Positive regulation of T cell migration	IMP	28028151

MIM	HGNC	e!Ensembl
611432	19191	ENSG00000107099

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

Interactions

View interactions

	Reactome
			Factors involved in megakaryocyte development and platelet production

1945

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
-	Likely pathogenic; Pathogenic	rs1486452597, rs754989398, rs2131814069, rs2130746906, rs2046707580, rs2130879011, rs2131982095, rs2130807292, rs2131648737, rs2131795370, rs1312725371, rs867378400, rs2538795130, rs1486504113, rs2053227203 View all (21 more)	RCV005057348 RCV005094517 RCV005094518 RCV005095392 RCV005095519 RCV005057787 RCV005095361 RCV005095474 RCV005095470 RCV005095524 RCV005095478 RCV005098803 RCV005098804 RCV005098805 RCV005098898 RCV005058910 RCV005098559 RCV005098586 RCV005098590 RCV005098579 RCV005098595 RCV005098597 RCV005098611 RCV005098636 RCV005098775 RCV005208995 RCV005209065 RCV005209182 RCV005209165 RCV005209193 RCV005209305 RCV005209242 RCV005209235 RCV005209269 RCV005093363 RCV005093315
Combined immunodeficiency due to DOCK8 deficiency	Pathogenic; Likely pathogenic	rs2057107899, rs770748316, rs2131649330, rs2131602318, rs2130697082, rs372503899, rs112321280, rs2131215770, rs2538340189, rs1564072946, rs2057088963, rs2538803114, rs869312169, rs113432057, rs113203757 View all (15 more)	RCV001328869 RCV001381865 RCV001733785 RCV001794935 RCV001823605 RCV005861270 RCV000000999 RCV002249030 RCV002292406 RCV002292407 RCV002292409 RCV002466881 RCV000210045 RCV002282098 RCV003335887 RCV003340917 RCV003338911 RCV003388679 RCV003448877 RCV005051364 RCV003990857 RCV000985049 RCV001824146 RCV005357857 RCV000694410 RCV000699467 RCV000054450 RCV000054451 RCV001784550 RCV005049790
DOCK8-related disorder	Likely pathogenic; Pathogenic	rs2537951645, rs2537558012, rs1554707993	RCV003406172 RCV003937103 RCV004740376
Inherited Immunodeficiency Diseases	Pathogenic; Likely pathogenic	rs1586940273, rs1587143342	RCV001027569 RCV001027570
Severe combined immunodeficiency disease	Pathogenic; Likely pathogenic	rs112321280, rs372598000	RCV006263610 RCV002266193
Thyroid cancer, nonmedullary, 1	Pathogenic	rs777066716	RCV005900876

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign; Conflicting classifications of pathogenicity	rs76009026, rs12348944, rs192864327, rs749575443	RCV005918612 RCV005890756 RCV005895446 RCV005908869
Adrenocortical carcinoma, hereditary	Benign	rs17673268	RCV005890749
Cervical cancer	Likely benign; Benign	rs74485500, rs12348944	RCV005919045 RCV005890759
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	rs778938711, rs748371145, rs763837715	RCV005867021 RCV005867051 RCV005867164
Clear cell carcinoma of kidney	Benign; Likely benign	rs146289269	RCV005898106
Colon adenocarcinoma	Uncertain significance; Benign	rs368538451, rs12348944	RCV005924156 RCV005890755
Colorectal cancer	Benign	rs17673268	RCV005890752
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	rs10739043, rs192864327, rs116920018	RCV005924932 RCV005895445 RCV005900653
Gastric cancer	Likely benign; Benign	rs114758207, rs12348944, rs184867151, rs547455292, rs77987445	RCV005917846 RCV005890761 RCV005890766 RCV005931440 RCV005905458
Hepatoblastoma	Uncertain significance	rs1443199004, rs749789023, rs766320232	RCV001843894 RCV001843558 RCV001843572
Hepatocellular carcinoma	Benign; Likely benign	rs12348944, rs184867151	RCV005890757 RCV005890765
Hyper-IgE recurrent infection syndrome 3, autosomal recessive	Uncertain significance; Conflicting classifications of pathogenicity	rs751201571, rs373762198, rs749272308, rs764380170, rs1166248716, rs765335127, rs774602558, rs372486315, rs532879343, rs1373790109, rs1300561554, rs201733542, rs557751601, rs1254114400, rs778114411 View all (87 more)	RCV005416517 RCV005416520 RCV005416526 RCV005416522 RCV005416524 RCV005416525 RCV005416560 RCV005416611 RCV005416621 RCV005416613 RCV005416592 RCV005416550 RCV005416582 RCV005416566 RCV005416567 RCV005416588 RCV005416584 RCV005416574 RCV005416568 RCV005416570 RCV005416586 RCV005416558 RCV005416591 RCV005416612 RCV005416571 RCV005416587 RCV005416608 RCV005416590 RCV005416605 RCV005416625 RCV005416628 RCV005416660 RCV005416667 RCV005416669 RCV005416668 RCV005416670 RCV005416641 RCV005416642 RCV005416645 RCV005416655 RCV005416656 RCV005416657 RCV005416658 RCV005416332 RCV005416728 RCV005416732 RCV005416339 RCV005416340 RCV005416343 RCV005416348 RCV005416349 RCV005416743 RCV005416342 RCV005416344 RCV005416345 RCV005416341 RCV005416347 RCV005416346 RCV005416351 RCV005416357 RCV005416362 RCV005416360 RCV005416361 RCV005416380 RCV005416401 RCV005416403 RCV005416410 RCV005416422 RCV005416430 RCV005416429 RCV005416420 RCV005416461 RCV005416465 RCV005416460 RCV005416454 RCV005416453 RCV005416456 RCV005416462 RCV005416451 RCV005416455 RCV005416466 RCV005416326 RCV005416475 RCV005416477 RCV005416490 RCV005416491 RCV005416489 RCV005416487 RCV005416485 RCV005416483 RCV005416482 RCV005416484 RCV005416481 RCV005416496 RCV005416498 RCV005416494 RCV005416493 RCV005416497 RCV005416504 RCV005416507 RCV005416509 RCV005416508 RCV005416510 RCV005416511
Hyper-IgE syndrome	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs727505303, rs531279290, rs375864618, rs766493394, rs886063964, rs200243583	RCV000378054 RCV000306243 RCV000267280 RCV000329927 RCV000396058 RCV000336278 RCV000306049
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs147287319, rs192864327, rs200899164, rs139391329, rs148368084, rs150742426, rs148693111, rs150298985, rs116920018, rs148081681, rs373187839, rs774744500, rs754915792, rs781095788, rs2053282292, rs529920844, rs762051692 View all (2 more)	RCV001251746 RCV001251745 RCV001251747 RCV001251743 RCV005625573 RCV001251744 RCV001251748 RCV001251749 RCV005625579 RCV001251750 RCV001251742 RCV001251741 RCV001251740 RCV001251738 RCV001251736 RCV001251737 RCV001251739
Intellectual disability, autosomal dominant 2	Uncertain significance	rs886063879, rs2057902138	RCV004799256 RCV001291751
Lung cancer	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs551877438, rs1277476365, rs12348944, rs116920018	RCV005912867 RCV005923893 RCV005890763 RCV005900658
Lymphoma	Likely benign	rs778938711	RCV005867020
Malignant lymphoma, large B-cell, diffuse	Likely benign; Benign	rs748371145, rs763837715, rs17673268, rs10970979, rs3818619	RCV005867050 RCV005867163 RCV005890751 RCV005888321 RCV005904052
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign	rs143458628, rs6476031	RCV005912548 RCV005915472
Melanoma	Conflicting classifications of pathogenicity	rs116920018	RCV005900657
Nonpapillary renal cell carcinoma	Benign	rs12348944	RCV005890758
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Likely benign; Benign	rs143458628, rs551877438, rs114758207, rs74485500, rs6476031, rs12348944, rs116920018	RCV005912549 RCV005912866 RCV005917847 RCV005919046 RCV005915474 RCV005890762 RCV005900654
Sarcoma	Benign	rs6476031, rs12348944	RCV005915473 RCV005890760
Thymoma	Likely benign; Benign; Conflicting classifications of pathogenicity	rs114541531, rs115092992, rs17673268, rs192260189, rs116920018, rs77987445	RCV005916187 RCV005915072 RCV005890754 RCV005895105 RCV005900655 RCV005905459
Uterine carcinosarcoma	Benign	rs17673268	RCV005890753
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs551877438, rs114541531, rs76009026, rs12348944, rs146289269	RCV005912868 RCV005916188 RCV005918613 RCV005890764 RCV005898107
Uveal melanoma	Benign	rs17673268	RCV005890750

Show/Hide Text Mining Associations (75)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

DOCK8 (dedicator of cytokinesis 8)