COPA, COPI coat complex subunit alpha, 1314

N. diseases: 37; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225334
Disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE 		0.710 GeneticVariation disease CLINVAR
CUI: C4225334
Disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE 		0.710 Biomarker disease CTD_human
CUI: C0003864
Disease: Arthritis
Arthritis 		0.430 Biomarker disease HPO
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.420 Biomarker group HPO
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.100 Biomarker phenotype HPO
CUI: C0010200
Disease: Coughing
Coughing 		0.100 Biomarker phenotype HPO
CUI: C0151632
Disease: ESR raised
ESR raised 		0.100 Biomarker phenotype HPO
CUI: C0151701
Disease: Pulmonary hemorrhage
Pulmonary hemorrhage 		0.100 Biomarker phenotype HPO
CUI: C0231835
Disease: Tachypnea
Tachypnea 		0.100 Biomarker phenotype HPO
CUI: C0403416
Disease: Idiopathic crescentic glomerulonephritis
Idiopathic crescentic glomerulonephritis 		0.100 Biomarker disease HPO
CUI: C0475713
Disease: Perinatal pulmonary hemorrhage
Perinatal pulmonary hemorrhage 		0.100 Biomarker phenotype HPO
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0.100 Biomarker phenotype HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Among ten HCC cases with the amplicon 1q21-q22 examined, we found a significant gene expression level of JTB, SHC1, CCT3 and COPA in the tumors than the paired adjacent non-malignant liver tissues (P< or =0.04). 12586295 2003
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 AlteredExpression disease LHGDN Among ten HCC cases with the amplicon 1q21-q22 examined, we found a significant gene expression level of JTB, SHC1, CCT3 and COPA in the tumors than the paired adjacent non-malignant liver tissues (P< or =0.04). 12586295 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE COPA knockdown induced apoptosis and suppressed tumor growth in a mesothelioma mouse model. 20153416 2010
CUI: C0025500
Disease: Mesothelioma
Mesothelioma 		0.010 Biomarker disease BEFREE Therefore, COPA may have the potential of a therapeutic target and a new diagnostic marker of mesothelioma. 20153416 2010
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.030 Biomarker disease BEFREE Xenin-25, or molecules that increase acetylcholine receptor signaling in beta-cells, may represent a novel approach to overcome GIP resistance and therefore treat humans with T2DM. 20421298 2010
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.010 Biomarker disease BEFREE Pharmacologic doses of xenin-25, another peptide produced by K cells, restored the GIP-mediated insulin secretory response and reduced hyperglycemia in GIP/DT mice.Xenin-25 alone had no effect. 20421298 2010
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.030 Biomarker disease BEFREE We conclude that the interaction between SMN and α-COP serves an important function in the growth and maintenance of motor neuron processes and may play a significant role in the pathogenesis of SMA. 23727837 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 Biomarker disease BEFREE Due to the differentially expressed ADAR1 and ADAR2 in tumours, the altered gene specific editing activities, which was reflected by the hyper-editing of FLNB (filamin B, β) and the hypo-editing of COPA (coatomer protein complex, subunit α), are closely associated with HCC pathogenesis. 23766440 2014
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 Biomarker phenotype BEFREE In particular, hepatocellular carcinoma editome is severely disrupted and characterized by hyper- and hypoediting of different genes, such as hyperedited AZIN1 (antizyme inhibitor 1) and FLNB (filamin B, β) and hypoedited COPA (coatomer protein complex, subunit α). 24556721 2014
CUI: C4225334
Disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE 		0.710 GermlineCausalMutation disease ORPHANET COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. 25894502 2015
CUI: C4225334
Disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE 		0.710 GeneticVariation disease UNIPROT COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. 25894502 2015
CUI: C4225334
Disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE 		0.710 CausalMutation disease CLINVAR COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. 25894502 2015
CUI: C0003864
Disease: Arthritis
Arthritis 		0.430 Biomarker disease CTD_human COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. 25894502 2015