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	1795
Gene name	Dedicator of cytokinesis 3
Gene symbol	DOCK3
Synonyms (NCBI Gene)	MOCANEDIDHAPBP
Chromosome	3
Chromosome location	3p21.2
Summary	This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as mo

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs142515812	A>T	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs1553749681	C>T	Pathogenic, likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1560212751	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1560414254	ACTT>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (67)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045048	hsa-miR-186-5p	CLASH	23622248
MIRT437588	hsa-miR-125a-5p	MicroarrayqRT-PCR	22815788
MIRT437744	hsa-miR-34a-5p	MicroarrayqRT-PCR	22815788
MIRT438814	hsa-miR-486-5p	ImmunofluorescenceImmunohistochemistryImmunoprecipitaionLuciferase reporter assayqRT-PCRWestern blot	24789910
MIRT438814	hsa-miR-486-5p	ImmunofluorescenceImmunohistochemistryImmunoprecipitaionLuciferase reporter assayqRT-PCRWestern blot	24789910
MIRT942820	hsa-miR-1238	CLIP-seq
MIRT942821	hsa-miR-143	CLIP-seq
MIRT942822	hsa-miR-154	CLIP-seq
MIRT942823	hsa-miR-19a	CLIP-seq
MIRT942824	hsa-miR-19b	CLIP-seq
MIRT942825	hsa-miR-2113	CLIP-seq
MIRT942826	hsa-miR-23a	CLIP-seq
MIRT942827	hsa-miR-23b	CLIP-seq
MIRT942828	hsa-miR-23c	CLIP-seq
MIRT942829	hsa-miR-28-5p	CLIP-seq
MIRT942830	hsa-miR-3064-3p	CLIP-seq
MIRT942831	hsa-miR-3124-3p	CLIP-seq
MIRT942832	hsa-miR-3139	CLIP-seq
MIRT942833	hsa-miR-3160-3p	CLIP-seq
MIRT942834	hsa-miR-3170	CLIP-seq
MIRT942835	hsa-miR-320e	CLIP-seq
MIRT942836	hsa-miR-337-5p	CLIP-seq
MIRT942837	hsa-miR-3614-5p	CLIP-seq
MIRT942838	hsa-miR-3689a-3p	CLIP-seq
MIRT942839	hsa-miR-3689c	CLIP-seq
MIRT942840	hsa-miR-4274	CLIP-seq
MIRT942841	hsa-miR-4433	CLIP-seq
MIRT942842	hsa-miR-4459	CLIP-seq
MIRT942843	hsa-miR-4509	CLIP-seq
MIRT942844	hsa-miR-4701-5p	CLIP-seq
MIRT942845	hsa-miR-4722-3p	CLIP-seq
MIRT942846	hsa-miR-4731-5p	CLIP-seq
MIRT942847	hsa-miR-4744	CLIP-seq
MIRT942848	hsa-miR-4760-3p	CLIP-seq
MIRT942849	hsa-miR-4763-5p	CLIP-seq
MIRT942850	hsa-miR-4768-3p	CLIP-seq
MIRT942851	hsa-miR-4770	CLIP-seq
MIRT942852	hsa-miR-499-3p	CLIP-seq
MIRT942853	hsa-miR-499a-3p	CLIP-seq
MIRT942854	hsa-miR-548u	CLIP-seq
MIRT942855	hsa-miR-566	CLIP-seq
MIRT942856	hsa-miR-588	CLIP-seq
MIRT942857	hsa-miR-600	CLIP-seq
MIRT942858	hsa-miR-663b	CLIP-seq
MIRT942859	hsa-miR-708	CLIP-seq
MIRT1548009	hsa-miR-4254	CLIP-seq
MIRT1979180	hsa-miR-1299	CLIP-seq
MIRT1979181	hsa-miR-1972	CLIP-seq
MIRT1979182	hsa-miR-298	CLIP-seq
MIRT1979183	hsa-miR-3125	CLIP-seq
MIRT1979184	hsa-miR-3140-3p	CLIP-seq
MIRT1979185	hsa-miR-3916	CLIP-seq
MIRT1979186	hsa-miR-3928	CLIP-seq
MIRT1979187	hsa-miR-4438	CLIP-seq
MIRT1979188	hsa-miR-4530	CLIP-seq
MIRT1979189	hsa-miR-4782-5p	CLIP-seq
MIRT1979190	hsa-miR-5095	CLIP-seq
MIRT1979191	hsa-miR-516b	CLIP-seq
MIRT1979192	hsa-miR-922	CLIP-seq
MIRT2214274	hsa-miR-1179	CLIP-seq
MIRT2214275	hsa-miR-4310	CLIP-seq
MIRT2214276	hsa-miR-4475	CLIP-seq
MIRT2214277	hsa-miR-4672	CLIP-seq
MIRT2214278	hsa-miR-4757-5p	CLIP-seq
MIRT942834	hsa-miR-3170	CLIP-seq
MIRT942835	hsa-miR-320e	CLIP-seq
MIRT942846	hsa-miR-4731-5p	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	17474147, 32203420, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0031267	Function	Small GTPase binding	IBA
GO:0048011	Process	Neurotrophin TRK receptor signaling pathway	TAS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS

MIM	HGNC	e!Ensembl
603123	2989	ENSG00000088538

Q8IZD9

Protein name

Dedicator of cytokinesis protein 3 (Modifier of cell adhesion) (Presenilin-binding protein) (PBP)

Protein function

Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Its interaction with presenilin proteins as well as its ability to stimulate Tau/MAPT phosphorylation suggest that

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07653	SH3_2	10 → 64	Variant SH3 domain	Domain
PF16172	DOCK_N	69 → 412	DOCK N-terminus	Family
PF14429	DOCK-C2	417 → 608	C2 domain in Dock180 and Zizimin proteins	Domain
PF06920	DHR-2	1121 → 1628	Dock homology region 2	Family

Tissue specificity

TISSUE SPECIFICITY: In normal brains, it is localized in the neuropil, and occasionally in the pyramidal cells, while in Alzheimer disease brains, it is associated with neurofibrillary tangles. {ECO:0000269|PubMed:11696419}.

Sequence

MWTPTEEEKYGVVICSFRGSVPQGLVLEIGETVQILEKCEGWYRGVSTKKPNVKGIFPAN
YIHLKKAIVSNRGQYETVVPLEDSIVTEVTATLQEWASLWKQLYVKHKVDLFYKLRHVMN
ELIDLRRQLLSGHLTQDQVREVKRHITVRLDWGNEHLGLDLVPRKDFEVVDSDQISVSDL
YKMHLSSRQSVQQSTSQVDTMRPRHGETCRMPVPHHFFLSLKSFTYNTIGEDTDVFFSLY
DMREGKQISERFLVRLNKNGGPRNPEKIERMCALFTDLSSKDMKRDLYIVAHVIRIGRML
LNDSKKGPPHLHYRRPYGCAVLSILDVLQSLTEVKEEKDFVLKVYTCNNESEWSQIHENI
IRKSSAKYSAPSASHGLIISLQLLRGDMEQIRRENPMIFNRGLAITRKLGFPDVIMPGDI
RNDLYLTLEKGDFERGGKSVQKNIEVTMYVLYADGEILKDCISLGSGEPNRSSYHSFVLY
HSNSPRWGEIIKLPIPIDRFRGSHLRFEFRHCSTKDKGEKKLFGFAFSTLMRDDGTTLSD
DIHELYVYKCDENSTFNNHALYLGLPCCKEDYNGCPNIPSSLIFQRSTKESFFISTQLSS
TKLTQNVDLLALLKWKAFPDRIMDVLGRLRHVSGEEIVKFLQDILDTLFVILDDNTEKYG
LLVFQSLVFIINLLRDIKYFHFRPVMDTYIQKHFAGALAYKELIRCLKWYMDCSAELIRQ
DHIQEAMRALEYLFKFIVQSRILYSRATCGMEEEQFRSSIQELFQSIRFVLSLDSRNSET
LLFTQAALLNSFPTIFDELLQMFTVQEVAEFVRGTLGSMPSTVHIGQSMDVVKLQSIART
VDSRLFSFSESRRILLPVVLHHIHLHLRQQKELLICSGILGSIFSIVKTSSLEADVMEEV
EMMVESLLDVLLQTLLTIMSKSHAQEAVRGQRCPQCTAEITGEYVSCLLSLLRQMCDTHF
QHLLDNFQSKDELKEFLLKIFCVFRNLMKMSVFPRDWMVMRLLTSNIIVTTVQYLSSALH
KNFTETDFDFKVWNSYFSLAVLFINQPSLQLEIITSAKRKKILDKYGDMRVMMAYELFSM
WQNLGEHKIHFIPGMIGPFLGVTLVPQPEVRNIMIPIFHDMMDWEQRKNGNFKQVEAELI
DKLDSMVSEGKGDESYRELFSLLTQLFGPYPSLLEKVEQETWRETGISFVTSVTRLMERL
LDYRDCMKGEETENKKIGCTVNLMNFYKSEINKEEMYIRYIHKLCDMHLQAENYTEAAFT
LLLYCELLQWEDRPLREFLHYPSQTEWQRKEGLCRKIIHYFNKGKSWEFGIPLCRELACQ
YESLYDYQSLSWIRKMEASYYDNIMEQQRLEPEFFRVGFYGRKFPFFLRNKEYVCRGHDY
ERLEAFQQRMLSEFPQAVAMQHPNHPDDAILQCDAQYLQIYAVTPIPDYVDVLQMDRVPD
RVKSFYRVNNVRKFRYDRPFHKGPKDKENEFKSLWIERTTLTLTHSLPGISRWFEVERRE
LVEVSPLENAIQVVENKNQELRSLISQYQHKQVHGNINLLSMCLNGVIDAAVNGGIARYQ
EAFFDKDYINKHPGDAEKITQLKELMQEQVHVLGVGLAVHEKFVHPEMRPLHKKLIDQFQ
MMRASLYHEFPGLDKLSPACSGTSTPRGNVLASHSPMSPESIKMTHRHSPMNLMGTGRHS
SSSLSSHASSEAGNMVMLGDGSMGDAPEDLYHHMQLAYPNPRYQGSVTNVSVLSSSQASP
SSSSLSSTHSAPSQMITSAPSSARGSPSLPDKYRHAREMMLLLPTYRDRPSSAMYPAAIL
ENGQPPNFQRALFQQVVGACKPCSDPNLSVAEKGHYSLHFDAFHHPLGDTPPALPARTLR
KSPLHPIPASPTSPQSGLDGSNSTLSGSASSGVSSLSESNFGHSSEAPPRTDTMDSMPSQ
AWNADEDLEPPYLPVHYSLSESAVLDSIKAQPCRSHSAPGCVIPQDPMDPPALPPKPYHP
RLPALEHDEGVLLREETERPRGLHRKAPLPPGSAKEEQARMAWEHGRGEQ

Sequence length

2030

Interactions

View interactions

	Reactome
			NTRK2 activates RAC1 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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DOCK3-related disorder	Likely pathogenic	rs2549285187, rs1378797018, rs2548199661	RCV003427887 RCV003421194 RCV003397245	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs1560212751, rs1560414254	RCV001841880 RCV001841879	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia	Likely pathogenic; Pathogenic	rs1560212751, rs1560414254	RCV001841880 RCV001841879	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	Pathogenic; Likely pathogenic	rs1553749681, rs1560212751, rs1560414254	RCV000754620 RCV001253771 RCV001253772	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (21)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLANGIOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (49)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	28412148		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	29228715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	11696419	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	15613457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	29130632, 30976111	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	14569117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10485914		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	28256743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	29228715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	29228715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37214090	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28195318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29130632, 30976111	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28477681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	GWASCAT_DG	30177863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10854253, 10884317, 12432077, 12566533, 14569117, 14682358, 15234347, 15284851, 15494731, 15829629, 17046689, 17055478, 17911219, 19129390, 20368433 View all (8 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	10854253, 22115042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	27615513		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29130632, 30976111		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Impaired cognition	Impaired Cognition	BEFREE	28366772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	29130632, 30976111	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	23852370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10485914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	29228715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26716413, 9498898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	29228715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10485914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	18977323, 18984162	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	22328516		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild cognitive disorder	Cognitive disorder	BEFREE	29804200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10854253, 10884317, 12432077, 12566533, 14569117, 14682358, 15234347, 15284851, 15494731, 15829629, 17046689, 17055478, 17911219, 19129390, 20368433 View all (8 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	28892075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22328516		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA	Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	UNIPROT_DG	28195318, 29130632, 30976111		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA	Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	GENOMICS_ENGLAND_DG	30976111		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA	Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29130632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25687035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-specific syndromic intellectual disability	Syndromic Mental Retardation	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	22083667		★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYCYSTIC KIDNEY DISEASE 1	Polycystic kidney disease	BEFREE	8004675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Protanomaly	Protanomaly	BEFREE	28256743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	30098668		★★★★★ ★☆☆☆☆ Found in Text Mining only

DOCK3 (dedicator of cytokinesis 3)