COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031030
Disease: Periapical Periodontitis
Periapical Periodontitis
0.010 AlteredExpression disease BEFREE Expression of WNT3, WNT3A and WNT5A in AP tissues was significantly higher than in control tissues, and inversely correlated with the expression of SERPINB1, COL1A1 and TIMP1 (P < 0.05). 31831777 2019
CUI: C1290344
Disease: Nonspecific interstitial pneumonia
Nonspecific interstitial pneumonia
0.020 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: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 Biomarker disease BEFREE Subjects with low COL1A1, low BMP-6, and high IL-6Rα levels had a hazards ratio of 5.097 for incident CHD risk (p = 0.019), compared with those without. 31812227 2020
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.900 GeneticVariation disease BEFREE None of them could be classified as affected by OI or by any of the three recognized EDS variants associated with COL1A1/COL1A2. 31794058 2020
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
0.600 GeneticVariation disease BEFREE None of them could be classified as affected by OI or by any of the three recognized EDS variants associated with COL1A1/COL1A2. 31794058 2020
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
0.010 AlteredExpression disease BEFREE In addition, by testing genes shared by several functional gene-signatures for their association with event-free survival in a validation cohort (n = 272), we identified five genes (ASPN, BGN, COL1A1, RRM2 and TYMS)-three of which are included in commercially available prognostic tests-whose high expression was significantly associated with worse outcome exclusively in T2E-negative PCa. 31732966 2020
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.010 Biomarker disease BEFREE A significant increase was observed in the transcripts of MCP-1, TGF-β2, and SPARC in POAG and PACG (P < 0.05); CTGF, TGF-β1, LOX, LOXL2, ELN, COL1A1, and α-SMA in PACG (P < 0.05) compared with control. 31725165 2019
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
0.010 Biomarker disease BEFREE A significant increase was observed in the transcripts of MCP-1, TGF-β2, and SPARC in POAG and PACG (P < 0.05); CTGF, TGF-β1, LOX, LOXL2, ELN, COL1A1, and α-SMA in PACG (P < 0.05) compared with control. 31725165 2019
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
1.000 GeneticVariation disease BEFREE Generation of a patient-specific induced pluripotent stem cell line, KSCBi006-A, for osteogenesis imperfecta type I with the COL1A1, c.3162delT mutation. 31715426 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE After analyzing the RNA-Seq data of PTC patients from the Cancer Genomic Atlas, 497 differentially expressed PTC genes were found to be associated with HT, of which protein tyrosine phosphatase receptor type C (PTPRC), KIT, and COL1A1 were associated with tumor size and lymph node metastasis (p < 0.05). 31686862 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 AlteredExpression group BEFREE After analyzing the RNA-Seq data of PTC patients from the Cancer Genomic Atlas, 497 differentially expressed PTC genes were found to be associated with HT, of which protein tyrosine phosphatase receptor type C (PTPRC), KIT, and COL1A1 were associated with tumor size and lymph node metastasis (p < 0.05). 31686862 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 AlteredExpression group BEFREE After analyzing the RNA-Seq data of PTC patients from the Cancer Genomic Atlas, 497 differentially expressed PTC genes were found to be associated with HT, of which protein tyrosine phosphatase receptor type C (PTPRC), KIT, and COL1A1 were associated with tumor size and lymph node metastasis (p < 0.05). 31686862 2019
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease
0.010 Biomarker disease BEFREE After analyzing the RNA-Seq data of PTC patients from the Cancer Genomic Atlas, 497 differentially expressed PTC genes were found to be associated with HT, of which protein tyrosine phosphatase receptor type C (PTPRC), KIT, and COL1A1 were associated with tumor size and lymph node metastasis (p < 0.05). 31686862 2019
Secondary malignant neoplasm of lymph node
0.010 Biomarker disease BEFREE After analyzing the RNA-Seq data of PTC patients from the Cancer Genomic Atlas, 497 differentially expressed PTC genes were found to be associated with HT, of which protein tyrosine phosphatase receptor type C (PTPRC), KIT, and COL1A1 were associated with tumor size and lymph node metastasis (p < 0.05). 31686862 2019
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse
0.010 GeneticVariation disease BEFREE Although there was no significant association between the COL3A1 SNP and POP, there was a trend toward significance for COL14A1 SNP (rs2305603), COL4A2 SNP (rs74941798), two COL1A1 SNPs (rs2586488 and rs2249492) and three COL18A1 SNPs (rs1050351, rs56335679, and rs55690336), and POP. 31663982 2020
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.050 AlteredExpression disease BEFREE We found that COL1A1-014 was frequently upregulated in GC tissues as well as cells. 31650323 2020
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.050 AlteredExpression disease BEFREE We found that COL1A1-014 was frequently upregulated in GC tissues as well as cells. 31650323 2020
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.900 GeneticVariation disease BEFREE More than 85% Osteogenesis Imperfecta (OI) patients have pathogenic variants in COL1A1/A2. 31568717 2019
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE
0.010 GeneticVariation disease BEFREE Furthermore, transgenic mice overexpressing CrkII under control of the alpha-1 type I collagen promoter exhibited a reduced bone mass phenotype. 31554784 2019
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
0.600 GeneticVariation disease BEFREE This raises the question of the association of COL1A1 p.(Arg312Cys) with arterial complications and the need for a gene panel including not only the usual genes tested in search of classical or vascular EDS but also COL1A1. 31531849 2020
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.020 Biomarker disease BEFREE Bone Morphogenetic Protein 1 Targeting COL1A1 and COL1A2 to Regulate the Epithelial-Mesenchymal Transition Process of Colon Cancer SW620 Cells. 31492296 2020
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.020 Biomarker disease BEFREE Bone Morphogenetic Protein 1 Targeting COL1A1 and COL1A2 to Regulate the Epithelial-Mesenchymal Transition Process of Colon Cancer SW620 Cells. 31492296 2020
CUI: C0341539
Disease: Parastomal hernia
Parastomal hernia
0.010 AlteredExpression phenotype BEFREE α1 (III) procollagen expression levels were significantly increased in patients with PH, while no marked difference in α1 (I) procollagen mRNA expression levels were observed in patients with or without PH. 31485641 2019
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal
0.120 AlteredExpression disease BEFREE The transfection of miR-218-5p mimics into PMOP BMMSCs significantly upregulated COL1A1 at 14th and 21st day post-induction, but not at 7th day. 31478244 2020
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.400 AlteredExpression disease BEFREE Here, the relationship between SM α-actin and type 1 collagen expression (COL1A1), a major extracellular matrix protein important in liver fibrosis, is investigated with the results demonstrating that knockout of SM α-actin leads to reduced liver fibrosis and COL1 expression. 31476284 2019