BICD2, BICD cargo adaptor 2, 23299

N. diseases: 97; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.010 GeneticVariation group BEFREE BICD2 mutations appear rather unlikely to cause a phenotype of HMSN and are a very rare cause of the HSP phenotype.Muscle Nerve 59:484-486, 2019. 30536747 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 Biomarker disease BEFREE Altogether, these findings indicated that miR-340 exerted suppressor on cell growth by targeting BICD2 in pancreatic cancer and miR-340/BICD2 axis could be used as a candidate target to treat pancreatic cancer. 31153780 2019
CUI: C0239361
Disease: EXTREMITY MUSCLE ATROPHY, LOWER
EXTREMITY MUSCLE ATROPHY, LOWER 		0.010 GeneticVariation phenotype BEFREE Bicaudal homologous 2 Drosophila gene (BICD2) associated with spinal and lower extremity muscle atrophy was also upregulated in pansteatitis while Sphingosine -1-phosphate phosphatase 2 (SGPP2) involved in Sphingosine -1- phosphate metabolism was downregulated. 31738794 2019
CUI: C0268687
Disease: Nutritional steatitis
Nutritional steatitis 		0.010 AlteredExpression disease BEFREE Bicaudal homologous 2 Drosophila gene (BICD2) associated with spinal and lower extremity muscle atrophy was also upregulated in pansteatitis while Sphingosine -1-phosphate phosphatase 2 (SGPP2) involved in Sphingosine -1- phosphate metabolism was downregulated. 31738794 2019
CUI: C0302142
Disease: Deformity
Deformity 		0.010 GeneticVariation group BEFREE Rescue experiments with wildtype and disease-related mutant BICD2 constructs revealed that a point-mutation in the RAB6/RANBP2-binding-domain, associated with cortical malformation in patients, fails to restore proper cortical neuron migration. 31655624 2019
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 Biomarker disease BEFREE Altogether, these findings indicated that miR-340 exerted suppressor on cell growth by targeting BICD2 in pancreatic cancer and miR-340/BICD2 axis could be used as a candidate target to treat pancreatic cancer. 31153780 2019
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		0.010 Biomarker disease BEFREE The dynein-adaptor protein BICD2 is associated with a spectrum of human neurological diseases, including malformations of cortical development. 31655624 2019
CUI: C0027121
Disease: Myositis
Myositis 		0.010 Biomarker disease BEFREE Compared to anti-BICD2 negative subjects (335/451), single specificity anti-BICD2 subjects were more likely to have an inflammatory myopathy (IM; 31.8% vs. 9.6%, p=.004) and interstitial lung disease (ILD; 52.4% vs. 29.0%, p=.024). 29369808 2018
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.010 Biomarker disease BEFREE We observed that autoantibodies to BICD2 represent a new biomarker as they were detected in patients without other SSc-specific autoantibodies and were the second most common autoantibody identified in this SSc cohort. 29369808 2018
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.010 Biomarker group BEFREE Compared to anti-BICD2 negative subjects (335/451), single specificity anti-BICD2 subjects were more likely to have an inflammatory myopathy (IM; 31.8% vs. 9.6%, p=.004) and interstitial lung disease (ILD; 52.4% vs. 29.0%, p=.024). 29369808 2018
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 Biomarker disease BEFREE We conclude that BICD2 is a capsid-associated dynein adaptor utilized by HIV-1 for transport to the nucleus.<b>IMPORTANCE</b> During HIV-1 infection, the virus must travel across the cytoplasm to enter the nucleus. 30068656 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 Biomarker disease BEFREE DT-13 synergistically enhanced vinorelbine-mediated mitotic arrest through inhibition of FOXM1-BICD2 axis in non-small-cell lung cancer cells. 28542137 2017
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.010 Biomarker group BEFREE Several mutations in BICD2 have been linked to the development of neuromuscular diseases, and BICD2 knockout (KO) mice display migration defects of the radial cerebellar granule cells. 28215293 2017
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 Biomarker disease BEFREE Genes such as VPS35, FCGR2A, TBCA, HIRA, TYROBP, JUND, PHF20, NFKB2, RPL35A and BICD2 may be considered to be potential pathogenic genes of osteoporosis and may be useful for further study of the mechanisms underlying osteoporosis.<b>Cite this article</b>: B. Xia, Y. Li, J. Zhou, B. Tian, L. Feng. 29203636 2017
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 GeneticVariation phenotype BEFREE When overexpressed in rat hippocampal neurons, the hyperactive BICD2 mutants decreased neurite growth. 28883039 2017
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.010 Biomarker disease BEFREE BicD2 and Lis1 together control the overall efficiency of motility initiation. 29038173 2017
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.010 Biomarker disease BEFREE Several mutations in BICD2 have been linked to the development of neuromuscular diseases, and BICD2 knockout (KO) mice display migration defects of the radial cerebellar granule cells. 28215293 2017
CUI: C4524092
Disease: Chronic rhinosinusitis with nasal polyps
Chronic rhinosinusitis with nasal polyps 		0.010 Biomarker disease BEFREE Our study indicates that HLCS, HLA-DRA, BICD2, VSIR and SLC5A1 could be involved in the pathogenesis of chronic rhinosinusitis with nasal polyps. 29253858 2017
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		0.010 GeneticVariation disease BEFREE Heterozygous BICD2 gene mutations cause a form of autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED). 26998597 2016
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome 		0.010 GeneticVariation disease BEFREE Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. 27751653 2016
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 GeneticVariation group BEFREE In addition, genetic defects associated with these and other neurological disorders have been found in multifunctional adaptors that regulate dynein function, including the dynactin subunit p150(Glued), BICD2 (Bicaudal D2), Lis-1 (lissencephaly 1) and NDE1 (nuclear distribution protein E). 24256262 2013
CUI: C4024957
Disease: Proximal spinal muscular atrophy
Proximal spinal muscular atrophy 		0.010 GeneticVariation disease BEFREE Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. 23664119 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation disease BEFREE Interestingly, the BICD2-N transgene increased lifespan in 'low copy' SOD1-G93A ALS transgenic mice. 18579581 2008
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		0.010 Biomarker disease BEFREE Despite these abnormalities, BICD2-N mice did not develop signs of motor neuron degeneration and motor abnormalities. 18579581 2008
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation group BEFREE Rescue experiments with wildtype and disease-related mutant BICD2 constructs revealed that a point-mutation in the RAB6/RANBP2-binding-domain, associated with cortical malformation in patients, fails to restore proper cortical neuron migration. 31655624 2019