DOCK3, dedicator of cytokinesis 3, 1795

N. diseases: 85; N. variants: 51
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 GeneticVariation disease BEFREE DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. 29130632 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 Biomarker disease BEFREE Here, we report on three patients with DOCK3-related developmental delay, wide-based or uncoordinated gait, and hypotonia, further supporting DOCK3's role in a neurodevelopmental syndrome and expanding the spectrum of phenotypic and genotypic variability. 30976111 2019
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.110 Biomarker phenotype BEFREE Dock3 knockout mice exhibit motor deficiencies with abnormal ataxic gait and impaired learning. 28195318 2017
CUI: C0343401
Disease: MRSA - Methicillin resistant Staphylococcus aureus infection
MRSA - Methicillin resistant Staphylococcus aureus infection 		0.060 Biomarker disease BEFREE Phenotypically identified methicillin resistant Staphylococcus aureus (MRSA) strains from several hospitals in Romania and Saudi Arabia (n = 103 and 68, respectively) were confirmed to be MRSA by mecA PCR and PBP-2' based latex agglutination. 16168939 2005
CUI: C0343401
Disease: MRSA - Methicillin resistant Staphylococcus aureus infection
MRSA - Methicillin resistant Staphylococcus aureus infection 		0.060 Biomarker disease BEFREE Confirmation of methicillin-resistant Staphylococcus aureus (MRSA) was performed using multiplex PCR targeting mecA and nuc genes in addition to phenotypic assay based on PBP-2a latex agglutination. 26178302 2016
CUI: C0343401
Disease: MRSA - Methicillin resistant Staphylococcus aureus infection
MRSA - Methicillin resistant Staphylococcus aureus infection 		0.060 Biomarker disease BEFREE Moreover, a 4.3 kb HindIII fragment containing MRSA-PBP gene was detected by using the same oligonucleotide probe. 2048117 1991
CUI: C0343401
Disease: MRSA - Methicillin resistant Staphylococcus aureus infection
MRSA - Methicillin resistant Staphylococcus aureus infection 		0.060 GeneticVariation disease BEFREE In this study, two clonal complex 130 (CC130) methicillin-resistant Staphylococcus aureus (MRSA) isolates from patients in Irish hospitals were identified that were phenotypically PBP 2a positive but lacked mecA by conventional PCR and by DNA microarray screening. 21636525 2011
CUI: C0343401
Disease: MRSA - Methicillin resistant Staphylococcus aureus infection
MRSA - Methicillin resistant Staphylococcus aureus infection 		0.060 Biomarker disease BEFREE The Quinazolinone Allosteric Inhibitor of PBP 2a Synergizes with Piperacillin and Tazobactam against Methicillin-Resistant Staphylococcus aureus. 30858202 2019
CUI: C0343401
Disease: MRSA - Methicillin resistant Staphylococcus aureus infection
MRSA - Methicillin resistant Staphylococcus aureus infection 		0.060 Biomarker disease BEFREE The present study compared the MRSA-Screen latex agglutination test (Denka Seiken Co., Ltd., Tokyo, Japan) for detection of PBP 2a with agar dilution, the VITEK-1 and VITEK-2 systems (bioMérieux, St. Louis, Mo.), and the oxacillin agar screen test for detection of MRSA, with PCR for the mecA gene used as the "gold standard" assay. 11682512 2001
CUI: C0021400
Disease: Influenza
Influenza 		0.050 GeneticVariation disease BEFREE It is suggest that the minimum bactricidal concentration (MBC) was dissociated from the minimum inhibitory concentration (MIC) in S. pneumoniae and H. influenzae with abnormal pbp genes. 17109098 2006
CUI: C0021400
Disease: Influenza
Influenza 		0.050 GeneticVariation disease BEFREE High prevalence of penicillin-binding protein (PBP) gene mutated (PGM) strains of H. influenzae should be taken into account when treating otitis media in children. 16428188 2006
CUI: C0021400
Disease: Influenza
Influenza 		0.050 Biomarker disease BEFREE The penicillin binding protein (PBP) genes dacA, dacB and ftsI from 14 cefuroxime-resistant (CXM(R)) isolates and three clinical isolates with low CXM MIC for non-beta-lactamase-producing Haemophilus influenzae type b were molecularly characterized. 12615852 2003
CUI: C0021400
Disease: Influenza
Influenza 		0.050 Biomarker disease BEFREE Non-beta-lactamase-producing ampicillin-resistant (BLNAR) strains with mutations in penicillin-binding protein (PBP) genes of Haemophilus influenzae have been prevalent recently among younger children. 15880950 2005
CUI: C0021400
Disease: Influenza
Influenza 		0.050 GeneticVariation disease BEFREE Molecular diagnosis and characterization of a culture-negative mycotic aneurysm due to ST54 Haemophilus influenzae type b with PBP 3 alterations. 29373266 2018
CUI: C0004134
Disease: Ataxia
Ataxia 		0.020 GeneticVariation phenotype BEFREE Here we report a boy with developmental delay, hypotonia, and ataxia due to biallelic DOCK3 deletion. 29130632 2018
CUI: C0004134
Disease: Ataxia
Ataxia 		0.020 GeneticVariation phenotype BEFREE Prior studies have described DOCK3 bi-allelic loss of function variants in two families with ataxia, hypotonia, and developmental delay. 30976111 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE CD147 regulates cancer migration via direct interaction with Annexin A2 and DOCK3-β-catenin-WAVE2 signaling. 26716413 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE Seven arylamines have been classified by the International Agency for Research on Cancer: benzidine-based dyes and MOCA (4,4'-methylene bis 2-choloroaniline) were considered 'probably' carcinogenic, Group 2A, because of a high level of evidence in experimental animals; two occupational chemicals (2-naphthylamine and benzidine), one drug (Chlornaphazine), and two manufacturing processes (manufacture of auramine and magenta) were included in Group 1 on the basis of 'sufficient' evidence of carcinogenicity in humans. 9498898 1997
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.020 GeneticVariation phenotype BEFREE Here we report a boy with developmental delay, hypotonia, and ataxia due to biallelic DOCK3 deletion. 29130632 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.020 GeneticVariation phenotype BEFREE Prior studies have described DOCK3 bi-allelic loss of function variants in two families with ataxia, hypotonia, and developmental delay. 30976111 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 Biomarker phenotype BEFREE Our study provides the first evidence that CD147 promotes tumor cell movement and metastasis via direct interaction with Annexin A2 and DOCK3-β-catenin-WAVE2 signaling axis. 26716413 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 Biomarker phenotype BEFREE Inhibition of RAC1-GEF DOCK3 by miR-512-3p contributes to suppression of metastasis in non-small cell lung cancer. 25687035 2015
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.020 AlteredExpression disease BEFREE MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins. 22115042 2012
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.020 Biomarker disease BEFREE In addition, PBP is deficient in the soluble fraction of sporadic AD brains. 10854253 2000
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 Biomarker phenotype BEFREE Here, we report on three patients with DOCK3-related developmental delay, wide-based or uncoordinated gait, and hypotonia, further supporting DOCK3's role in a neurodevelopmental syndrome and expanding the spectrum of phenotypic and genotypic variability. 30976111 2019