COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.010 Biomarker disease BEFREE In conclusion, during the progression of COAD, eight core genes (BGN, SULF1, COL1A1, FAP, THBS2, CTHRC1, COL5A2, and COL1A2) play vital roles. 31612481 2020
CUI: C0033999
Disease: Pterygium
Pterygium 		0.010 GeneticVariation disease BEFREE In our patient, compound heterozygosity with PLOD2 mutations is associated with a clinical phenotype distinctive from classic BRKS2 indicating that when COL1A1 and COL1A2 mutation testing is negative for OI without congenital contractures or pterygia, atypical BRKS should be considered. 31472299 2020
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		0.010 GeneticVariation group BEFREE In our patient, compound heterozygosity with PLOD2 mutations is associated with a clinical phenotype distinctive from classic BRKS2 indicating that when COL1A1 and COL1A2 mutation testing is negative for OI without congenital contractures or pterygia, atypical BRKS should be considered. 31472299 2020
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 AlteredExpression disease BEFREE Expression levels of COL1A1 and COL1A2 (subtypes of Type I collagen) messenger RNA in NSCLC and ESCC tumors were higher than in normal tissues, but were not associated with tumor node metastasis stages. 30604926 2019
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.010 Biomarker disease BEFREE Importantly, we demonstrate that COL1A2 mediates the pro- and anti-migratory effects of TBX3 in chondrosarcoma and fibrosarcoma cells respectively. 31202624 2019
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma 		0.010 Biomarker disease BEFREE Importantly, we demonstrate that COL1A2 mediates the pro- and anti-migratory effects of TBX3 in chondrosarcoma and fibrosarcoma cells respectively. 31202624 2019
CUI: C0030552
Disease: Paresis
Paresis 		0.010 GeneticVariation phenotype BEFREE Osteogenesis imperfecta (OI) is a heritable connective tissue disorder that most often arises from type I collagen-COL1A1 and COL1A2-gene defects leading to skeletal fragility, short stature, blue-gray sclera, and muscle weakness. 30908713 2019
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 GeneticVariation phenotype BEFREE Osteogenesis imperfecta (OI) is a heritable connective tissue disorder that most often arises from type I collagen-COL1A1 and COL1A2-gene defects leading to skeletal fragility, short stature, blue-gray sclera, and muscle weakness. 30908713 2019
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		0.010 Biomarker disease BEFREE Importantly, we demonstrate that COL1A2 mediates the pro- and anti-migratory effects of TBX3 in chondrosarcoma and fibrosarcoma cells respectively. 31202624 2019
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 AlteredExpression disease BEFREE Expression levels of COL1A1 and COL1A2 (subtypes of Type I collagen) messenger RNA in NSCLC and ESCC tumors were higher than in normal tissues, but were not associated with tumor node metastasis stages. 30604926 2019
CUI: C0280252
Disease: stage, colon cancer
stage, colon cancer 		0.010 Biomarker phenotype BEFREE Finally, NUDT21, GNB1, CLINT1, and COL1A2 core gene were selected due to their correlation with the prognosis of IIA stage colon cancer. 30881993 2019
CUI: C1290344
Disease: Nonspecific interstitial pneumonia
Nonspecific interstitial pneumonia 		0.010 Biomarker disease BEFREE The IMU-COLV mice presented with increased tissue elastance and a nonspecific interstitial pneumonia (NSIP) histologic pattern in the lung, combined with the thickening of the small and medium intrapulmonary arteries, increased Col V fibers, and increased COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2 gene expression. 31829272 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 Biomarker disease BEFREE In addition, TGF-β1 treatment induced the upregulation of COL1A1 and COL1A2 in AF-CMPC only. 29245016 2018
CUI: C0024636
Disease: Malocclusion
Malocclusion 		0.010 Biomarker disease BEFREE Sequence analysis of COL1A1/COL1A2 and other OI-related genes was compared to the Peer Assessment Rating (PAR), an index reflecting the severity of malocclusion. 29388328 2018
CUI: C0025202
Disease: melanoma
melanoma 		0.010 AlteredExpression disease BEFREE To assess the role of CAFs in melanoma progression, we used C57BL/6 mice expressing a tamoxifen-dependent cre recombinase expressed under the control of a fibroblast-specific promoter/enhancer (COL1A2) to delete CCN2 postnatally in fibroblasts. 29885461 2018
CUI: C0155502
Disease: Benign Paroxysmal Positional Vertigo
Benign Paroxysmal Positional Vertigo 		0.010 Biomarker disease BEFREE The bone turnover markers of PINP and β-CTX in BPPV patients were lower than those in healthy controls. 30233488 2018
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.010 AlteredExpression disease BEFREE We identified 112 CNV-mRNA-protein correlated molecules, including up-regulated COL1A2 and BGN associated with prognosis, and four strongest hot spots (chromosomes X, 7, 16 and 1) driving global mRNA abundance variation in CRC liver metastasis. 30241526 2018
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 AlteredExpression disease BEFREE The mRNA levels of COL1A2 in CRC tissues were correlated with tumor differentiation, invasion, and lymph node metastasis. 30123364 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 Biomarker disease BEFREE No significant association of PTH, 25OHD, osteocalcin, CTX and P1NP with CAD or coronary atherosclerosis was found in this study. 28642975 2018
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 Biomarker disease BEFREE LGALS4, CEACAM6, TSPAN8, and COL1A2: Blood Markers for Colorectal Cancer-Validation in a Cohort of Subjects With Positive Fecal Immunochemical Test Result. 29352642 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 AlteredExpression group BEFREE Two glycoproteins (ELANE and IGFBP3) were only increased in SqCC, and six glycoproteins (ACAN, LAMC2, THBS1, LTBP1, PSAP and COL1A2) were increased in ADC. 28814946 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 Biomarker disease BEFREE Previous studies have suggested that dysregulation of pro-alpha2 chain of type I collagen, encoded by collagen type I alpha 2 chain (COL1A2) gene, was involved in cardiac disorders such as myocardial infarction, hypertrophic cardiomyopathy and atherosclerosis. 28738217 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 Biomarker disease BEFREE A positive correlation was demonstrated between PICP and erythrocyte sedimentation rate (ESR) in RA. 27775453 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 Biomarker disease BEFREE Previous studies have suggested that dysregulation of pro-alpha2 chain of type I collagen, encoded by collagen type I alpha 2 chain (COL1A2) gene, was involved in cardiac disorders such as myocardial infarction, hypertrophic cardiomyopathy and atherosclerosis. 28738217 2017
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		0.010 Biomarker group BEFREE Previous studies have suggested that dysregulation of pro-alpha2 chain of type I collagen, encoded by collagen type I alpha 2 chain (COL1A2) gene, was involved in cardiac disorders such as myocardial infarction, hypertrophic cardiomyopathy and atherosclerosis. 28738217 2017