SHOC1, shortage in chiasmata 1, 158401

N. diseases: 14; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.100 GeneticVariation disease GWASCAT A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs. 26708285 2016
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
CUI: C0235950
Disease: Zinc deficiency
Zinc deficiency 		0.030 AlteredExpression disease BEFREE Moreover, the splice switch to ΔC-ZIP2 as well as decreased expression of other ZIPs caused zinc deficiency, which is sufficient for induction of MUC5AC; while ΔC-ZIP2 expression per se induced ENaC expression and function. 29289532 2018
CUI: C0235950
Disease: Zinc deficiency
Zinc deficiency 		0.030 Biomarker disease BEFREE Several studies suggest that the zinc transporter protein ZIP2 may play a relevant role in the immune system especially during zinc deficiency, while a polymorphism on the coding region of ZIP2 gene (Gln/Arg/Leu) has been associated with severe carotid artery disease. 26643924 2016
CUI: C0235950
Disease: Zinc deficiency
Zinc deficiency 		0.030 Biomarker disease BEFREE We propose that zinc homeostasis in macrophages involves the coordinated action of ZIP1 and ZIP2 transporters responding differently to zinc deficiency signals and that these play important roles in macrophage efferocytosis. 25350745 2014
CUI: C0007273
Disease: Carotid Artery Diseases
Carotid Artery Diseases 		0.020 Biomarker group BEFREE Several studies suggest that the zinc transporter protein ZIP2 may play a relevant role in the immune system especially during zinc deficiency, while a polymorphism on the coding region of ZIP2 gene (Gln/Arg/Leu) has been associated with severe carotid artery disease. 26643924 2016
CUI: C0007273
Disease: Carotid Artery Diseases
Carotid Artery Diseases 		0.020 GeneticVariation group BEFREE In conclusion, Zip2 Gln/Arg/Leu polymorphism plays a role in the susceptibility to carotid artery disease. 18328005 2008
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 GeneticVariation phenotype BEFREE Based on the recently described crosstalk between TGF-β1 and Nrf2 in the PDAC development, the involvement of ATF3 and its splice variant ΔZip2 in TGF-β1- and Nrf2-driven pancreatic tumorigenesis was investigated. 30302023 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE Given that ZIP2 expression has been reported in acidic environments [Desouki, M. M., et al.(2007) Mol.Cancer 6, 37; Inoue, Y., et al.(2014) J. Biol.Chem.289, 21451-21462; Tao, Y. T., et al.(2013) Mol.Biol. 29791142 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 Biomarker disease BEFREE Functional Characterization of Novel Circular RNA Molecule, circzip-2 and Its Synthesizing Gene zip-2 in C. elegans Model of Parkinson's Disease. 29363043 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 AlteredExpression group BEFREE Given that ZIP2 expression has been reported in acidic environments [Desouki, M. M., et al.(2007) Mol.Cancer 6, 37; Inoue, Y., et al.(2014) J. Biol.Chem.289, 21451-21462; Tao, Y. T., et al.(2013) Mol.Biol. 29791142 2018
CUI: C0010414
Disease: Infection by Cryptococcus neoformans
Infection by Cryptococcus neoformans 		0.010 GeneticVariation disease BEFREE In line with these phenotypic alterations, the zip1Δ zip2Δ double mutant displayed attenuated virulence in a murine model of cryptococcosis. 25951314 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 AlteredExpression disease BEFREE Zip1 and Zip2 mRNA expression positively correlated with growth hormone level (r = 0.5133, P = 0.0371; r = 0.6719, P = 0.0032); Zip8 mRNA expression negatively correlated with growth hormone level (r = -0.5264, P = 0.0285) during the test in short stature children. 23921484 2013
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 AlteredExpression disease BEFREE Zip2 mRNA level was significantly up-regulated in PTB patients (P=0.001), and Zip8 mRNA level was significantly down-regulated compared with control individuals (P<0.001). 23686108 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 AlteredExpression disease BEFREE Previous studies in our laboratory have shown that Zip-1, ZnT-1, Zip-2 and LIV-1 mRNA are associated with zinc level in established human breast cancer in nude mice model. 20859692 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 AlteredExpression disease BEFREE Previous studies in our laboratory have shown that Zip-1, ZnT-1, Zip-2 and LIV-1 mRNA are associated with zinc level in established human breast cancer in nude mice model. 20859692 2011
CUI: C0007282
Disease: Carotid Stenosis
Carotid Stenosis 		0.010 GeneticVariation disease BEFREE The purpose of this study was to investigate the association of a novel Zip2 Gln/Arg/Leu codon 2 polymorphism with CS, analyzing 250 CS patients and 259 elderly controls. 18328005 2008