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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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 View all (25 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DOCK8-related disorder	Likely pathogenic; Pathogenic	rs2537951645, rs2537558012, rs1554707993	RCV003406172 RCV003937103 RCV004740376	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited Immunodeficiency Diseases	Pathogenic; Likely pathogenic	rs1586940273, rs1587143342	RCV001027569 RCV001027570	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe combined immunodeficiency disease	Pathogenic; Likely pathogenic	rs112321280, rs372598000	RCV006263610 RCV002266193	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs777066716	RCV005900876	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (56)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ATOPIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS B	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPER-IGE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyper-IgE recurrent infection syndrome 3, autosomal recessive	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyper-IgE syndrome	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPER-IGE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSULIN-DEPENDENT DIABETES MELLITUS SECRETORY DIARRHEA SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar CTD, Disgenet CTD, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability, autosomal dominant 2	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (116)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	31267431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	31267431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	30252138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anal canal squamous carcinoma	Anal Canal carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	26799599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	26799599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29702092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	37569643	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	27824329, 33455084	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	27824329	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22236427, 28625885, 28978806, 30120291, 30565250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	36263058	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	16391785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33503040	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19640199, 25428919	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16391785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37651233	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Angiitis	Cerebral Angiitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	38175286	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Deviations	Development Disorder	CTD_human_DG	18060736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Specific	Development Disorder	CTD_human_DG	18060736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	33936120	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	19776401, 20622910, 22236427, 23911989, 24106060, 24797421, 25627830, 25724123, 26680607, 28028174, 28070732, 28293550, 28625885, 29058101, 31267431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	25724123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	29867916	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	GWASCAT_DG	30429480		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Demyelinating Diseases	Demyelinating diseases	Pubtator	34301197	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	20004785, 36768728	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	20004785, 26799599, 28067314, 30252138, 31718082		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis, Atopic	Dermatitis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatologic disorders	Dermatologic Disorders	BEFREE	28067314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	18060736		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	CTD_human_DG	18060736		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	18060736, 29930340, 33455084	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26363782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	30143971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	33455084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	31267431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	26799599, 28067314, 30252138, 30391550, 31718082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	Pubtator	30391550, 34080085, 34657245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	27113444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	34080085	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33455084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	34301197	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	BEFREE	27997462, 29391576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Paralysis	Facial nerve disorder	Pubtator	34301197	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant	STAT3 Deficiency	GENOMICS_ENGLAND_DG	25724123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant	STAT3 Deficiency	BEFREE	27350570, 30094507, 30279075, 30536429, 30732127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant	STAT3 Deficiency	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive	Hyper-Immunoglobulin E Syndrome	GENOMICS_ENGLAND_DG	19776401, 25724123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive	Hyper-Immunoglobulin E Syndrome	BEFREE	20004785, 20622910, 21763205, 21970826, 22236427, 23210525, 23891736, 24673638, 25627830, 26659092, 27350570, 28070732, 30252138, 30279075, 30689480 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive	Hyper-Immunoglobulin E Syndrome	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive	Hyper-Immunoglobulin E Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	33455084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	32108967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	21763205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35482138, 36952639	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	21178272, 21178274, 24797421, 27207373, 28070732, 30565250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32084423	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18060736		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	LHGDN	18060736		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	CTD_human_DG	18060736		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	18060736, 33455084	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Language Disorders	Language development disorders	Pubtator	33455084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	33455084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19640199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	37851406	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	25332498		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	31267431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphopenia	Lymphopenia	BEFREE	20864884, 21931011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	32108967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant melanoma of skin of lower limb	Malignant melanoma of skin	GWASCAT_DG	30429480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant melanoma of skin of upper limb	Malignant melanoma of skin	GWASCAT_DG	30429480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16391785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16391785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	30565250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21178272, 22236427, 24797421, 28625885, 30391550, 30397357, 30793341, 31267431, 31718082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	18060736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18060736		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation Autosomal Dominant 1	Intellectual developmental disorder	Pubtator	18060736	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	29930340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28028151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	CTD_human_DG	26121086		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29930340		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37651233	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	24743019	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	31267431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	31267431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	21763205, 21931011, 31242861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	18060736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent sinusitis	Sinusitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	25724123	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	31630188		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	34657245	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Simple Pulmonary Eosinophilia	Pulmonary Eosinophilia	BEFREE	24106060		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33910393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	20596660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of vulva	Carcinoma Of Vulva	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	27113444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	27113444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis Central Nervous System	Vasculitis	Pubtator	27113444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	21178274, 31750279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Young Syndrome	Young syndrome	Pubtator	34080085	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DOCK8 (dedicator of cytokinesis 8)