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 BEFREE Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance. 29137621 2017
CUI: C4225334
Disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE 		0.710 Biomarker disease GENOMICS_ENGLAND Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance. 29137621 2017
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: 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 GeneticVariation disease BEFREE COPA (coatomer subunit α) syndrome is a newly recognised cause of interstitial lung disease in children and adults, frequently associated with arthritis and renal dysfunction. 31666386 2020
CUI: C0003864
Disease: Arthritis
Arthritis 		0.430 GeneticVariation disease BEFREE Two new monogenic syndromes of inflammatory arthritis were discovered using whole exome sequencing: the coatomer subunit alpha syndrome because of rare mutations in coatomer subunit alpha and haploinsufficiency of A20 resulting from rare mutations in TNFAIP3. 27224741 2016
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
CUI: C0003864
Disease: Arthritis
Arthritis 		0.430 GeneticVariation disease BEFREE 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 HPO
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.420 GeneticVariation group BEFREE COPA (coatomer subunit α) syndrome is a newly recognised cause of interstitial lung disease in children and adults, frequently associated with arthritis and renal dysfunction. 31666386 2020
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.420 GeneticVariation group BEFREE Mutations of the COPA gene cause an immune dysregulatory disease characterised by polyarticular arthritis and progressive interstitial lung disease with pulmonary haemorrhages. 29030294 2018
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.420 Biomarker group CTD_human COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. 25894502 2015
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.420 Biomarker group HPO
CUI: C0162323
Disease: Polyarthritis
Polyarthritis 		0.310 GeneticVariation disease BEFREE Mutations of the COPA gene cause an immune dysregulatory disease characterised by polyarticular arthritis and progressive interstitial lung disease with pulmonary haemorrhages. 29030294 2018
CUI: C0162323
Disease: Polyarthritis
Polyarthritis 		0.310 Biomarker disease CTD_human COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. 25894502 2015
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker disease GENOMICS_ENGLAND COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA. 29137621 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.300 Biomarker group CTD_human COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. 25894502 2015
CUI: C0206061
Disease: Pneumonia, Interstitial
Pneumonia, Interstitial 		0.300 Biomarker disease CTD_human COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. 25894502 2015
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