COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 156; N. variants: 57
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 AlteredExpression disease BEFREE COL5A1, COL6A3 and COL11A1 expression levels were remarkably related to RCC patient survival rate using UALCAN. 31814889 2019
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.010 GeneticVariation group BEFREE In conclusions, our study found that COL6A3 variants were associated with risk of EC in the Chinese population. 31425922 2019
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.010 GeneticVariation disease BEFREE In conclusions, our study found that COL6A3 variants were associated with risk of EC in the Chinese population. 31425922 2019
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.010 Biomarker disease BEFREE Taken together, we reported a newly identified regulatory mechanism of E2F1/LMCD1-AS1/miR-345-5p/COL6A3 axis, which might lead to a better understanding of CCA tumorigenesis and progression and provide potential therapeutic targets for CCA. 30876691 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 Biomarker disease BEFREE Genetic models and haplotype analyses were used to calculate the association between COL6A3 SNPs and lung cancer risk. 31286980 2019
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 AlteredExpression disease BEFREE COL5A1, COL6A3 and COL11A1 expression levels were remarkably related to RCC patient survival rate using UALCAN. 31814889 2019
CUI: C0341439
Disease: Chronic liver disease
Chronic liver disease 		0.010 AlteredExpression group BEFREE Our results implicate ETP mechanistically as a crucial mediator in reciprocal interactions among various hepatic cell populations in the pathogenesis of chronic liver disease, and it could be a promising therapeutic target particularly in individuals with high local levels of COL6A3. 30246318 2019
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.010 GeneticVariation disease BEFREE In conclusions, our study found that COL6A3 variants were associated with risk of EC in the Chinese population. 31425922 2019
CUI: C0588125
Disease: Nodular tenosynovitis
Nodular tenosynovitis 		0.010 GeneticVariation disease BEFREE Previous studies reported that CSF1-COL6A3 fusion genes were identified in approximately 30% of TSGCTs. 31107544 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 Biomarker disease BEFREE Genetic models and haplotype analyses were used to calculate the association between COL6A3 SNPs and lung cancer risk. 31286980 2019
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 GeneticVariation disease BEFREE Besides, no statistical significant was found between the COL6A3 gene polymorphisms and clinicopathological parameters such as TNM stage and lymph node metastasis among EC patients (p > 0.05). 31425922 2019
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 Biomarker disease BEFREE Genetic models and haplotype analyses were used to calculate the association between COL6A3 SNPs and lung cancer risk. 31286980 2019
CUI: C1318543
Disease: Fibrous histiocytoma of tendon sheath
Fibrous histiocytoma of tendon sheath 		0.010 GeneticVariation disease BEFREE Previous studies reported that CSF1-COL6A3 fusion genes were identified in approximately 30% of TSGCTs. 31107544 2019
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood 		0.010 AlteredExpression disease BEFREE COL5A1, COL6A3 and COL11A1 expression levels were remarkably related to RCC patient survival rate using UALCAN. 31814889 2019
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 AlteredExpression disease BEFREE RESULTS COL6A3 was highly expressed in tissues and cells of bladder cancer. 30066698 2018
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 AlteredExpression disease BEFREE RESULTS COL6A3 was highly expressed in tissues and cells of bladder cancer. 30066698 2018
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.010 Biomarker disease BEFREE Correlation analysis between unexplored hub genes and clinical features of DN suggested that COL6A3, MS4A6A,PLCE1, TNNC1, TNNI1, TNN2, and VSIG4 may involve in the progression of DN. 30485525 2018
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma 		0.010 GeneticVariation disease BEFREE Following identification of an index patient with a novel COL6A3-PDGFD fusion gene, we undertook a molecular investigation, using a combination of RNA sequencing and fluorescence in situ hybridization (FISH), to assess the prevalence of PDGFD rearrangement in dermatofibrosarcoma protuberans (N = 63). 30014607 2018
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans 		0.010 GeneticVariation disease BEFREE Following identification of an index patient with a novel COL6A3-PDGFD fusion gene, we undertook a molecular investigation, using a combination of RNA sequencing and fluorescence in situ hybridization (FISH), to assess the prevalence of PDGFD rearrangement in dermatofibrosarcoma protuberans (N = 63). 30014607 2018
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
Adamantinous Craniopharyngioma 		0.010 AlteredExpression disease BEFREE The expression of CDH1, CCL2, ITGA2, COL8A1, COL6A2, and COL6A3 were significantly upregulated in ACP tumor samples, while CAMK2A, RIMS1, NEFL, SYT1, and STX1A were significantly downregulated, which were consistent with the differentially expressed gene analysis. 29681617 2018
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 AlteredExpression disease BEFREE RESULTS COL6A3 was highly expressed in tissues and cells of bladder cancer. 30066698 2018
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.010 GeneticVariation disease BEFREE Following identification of an index patient with a novel COL6A3-PDGFD fusion gene, we undertook a molecular investigation, using a combination of RNA sequencing and fluorescence in situ hybridization (FISH), to assess the prevalence of PDGFD rearrangement in dermatofibrosarcoma protuberans (N = 63). 30014607 2018
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 Biomarker disease BEFREE Role of COL6A3 in colorectal cancer. 29620224 2018
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.010 Biomarker disease BEFREE Despite nonreplication of COL6A3, KLF12, and RYR3 signals, orthologs of these genes influence behavioral response to EtOH in MOs, suggesting potential involvement in human EtOH response and AD liability. 28226201 2017
CUI: C0002793
Disease: Anaplasia
Anaplasia 		0.010 AlteredExpression disease BEFREE TGF-β1, COL1A1, and COL6A3 gene expression was significantly higher at day 12 of dedifferentiation compared to day 0. 28781950 2017