COPA, COPI coat complex subunit alpha, 1314

N. diseases: 37; N. variants: 6
Disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE ×
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