Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CEREBROOCULOFACIOSKELETAL SYNDROME 4
0.700 GeneticVariation disease UNIPROT Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389 2013
CEREBROOCULOFACIOSKELETAL SYNDROME 4
0.700 Biomarker disease GENOMICS_ENGLAND Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389 2013
CEREBROOCULOFACIOSKELETAL SYNDROME 4
0.700 GeneticVariation disease CLINVAR Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389 2013
CEREBROOCULOFACIOSKELETAL SYNDROME 4
0.700 GeneticVariation disease UNIPROT First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. 17273966 2007
CEREBROOCULOFACIOSKELETAL SYNDROME 4
0.700 Biomarker disease GENOMICS_ENGLAND First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. 17273966 2007
CEREBROOCULOFACIOSKELETAL SYNDROME 4
0.700 Biomarker disease GENOMICS_ENGLAND First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. 17273966 2007
CEREBROOCULOFACIOSKELETAL SYNDROME 4
0.700 CausalMutation disease CLINVAR
CEREBROOCULOFACIOSKELETAL SYNDROME 4
0.700 Biomarker disease CTD_human
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.600 GeneticVariation disease BEFREE The ERCC1 rs321986 GT and TT genotypes (at radon concentrations >200 Bq/m<sup>3</sup>) were more significantly associated with higher lung cancer risk (OR = 2.40, 95% CI = 1.29-4.45; OR = 4.45, 95% CI = 1.26-15.7, respectively). 31446980 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.600 Biomarker disease BEFREE AC138128.1 an Intronic lncRNA originating from ERCC1 Implies a Potential Application in Lung Cancer Treatment. 31333777 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.600 AlteredExpression disease BEFREE These results show that the ZNF326 transcription factor is highly expressed in lung cancer and promotes the proliferation of NSCLC cells by regulating the expression of ERCC1. 30401956 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.600 AlteredExpression disease BEFREE Excision repair cross-complementary 1 (ERCC1) overexpression in lung cancer cells is strongly correlated with its resistance to platinum-based chemotherapy. 30668408 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.600 Biomarker disease BEFREE We utilized the CRISPR-Cas9 system to create a panel of ERCC1Δ lung cancer cell lines which we characterized. 30538112 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.600 GeneticVariation disease BEFREE The ERCC1 rs321986 GT and TT genotypes (at radon concentrations >200 Bq/m<sup>3</sup>) were more significantly associated with higher lung cancer risk (OR = 2.40, 95% CI = 1.29-4.45; OR = 4.45, 95% CI = 1.26-15.7, respectively). 31446980 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.600 Biomarker disease BEFREE We utilized the CRISPR-Cas9 system to create a panel of ERCC1Δ lung cancer cell lines which we characterized. 30538112 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.600 AlteredExpression disease BEFREE Excision repair cross-complementary 1 (ERCC1) overexpression in lung cancer cells is strongly correlated with its resistance to platinum-based chemotherapy. 30668408 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.600 AlteredExpression disease BEFREE These results show that the ZNF326 transcription factor is highly expressed in lung cancer and promotes the proliferation of NSCLC cells by regulating the expression of ERCC1. 30401956 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.600 Biomarker disease BEFREE AC138128.1 an Intronic lncRNA originating from ERCC1 Implies a Potential Application in Lung Cancer Treatment. 31333777 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.600 GeneticVariation disease BEFREE Our findings suggest that rs3212986 polymorphism in 3'UTR of ERCC1 overlapped with CD3EAP may affect the repair of the damage induced by BPDE mainly via regulating ERCC1 expression and become a potential biomarker to predict smoking-related lung cancer. 30453383 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.600 Biomarker disease CTD_human Our findings suggest that rs3212986 polymorphism in 3'UTR of ERCC1 overlapped with CD3EAP may affect the repair of the damage induced by BPDE mainly via regulating ERCC1 expression and become a potential biomarker to predict smoking-related lung cancer. 30453383 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.600 GeneticVariation disease BEFREE Our findings suggest that rs3212986 polymorphism in 3'UTR of ERCC1 overlapped with CD3EAP may affect the repair of the damage induced by BPDE mainly via regulating ERCC1 expression and become a potential biomarker to predict smoking-related lung cancer. 30453383 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.600 GeneticVariation disease BEFREE Functional intronic ERCC1 polymorphism from regulomeDB can predict survival in lung cancer after surgery. 26056042 2015
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.600 GeneticVariation disease BEFREE Functional intronic ERCC1 polymorphism from regulomeDB can predict survival in lung cancer after surgery. 26056042 2015
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.600 GeneticVariation disease BEFREE Pooled ORs from 11 eligible studies (8,215 cases vs. 11,402 controls) suggested a significant association of ERCC1 rs11615 with increased risk for lung cancer (homozygous: CC versus TT, OR = 1.24, 95% CI: 1.04-1.48, P = 0.02). 24841208 2014
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.600 GeneticVariation disease BEFREE This meta-analysis suggests that the ERCC1 19007T>C polymorphism may be associated with lung cancer risk in Asians, while larger scale association studies are necessary to further validate the association of 19007T>C polymorphism with lung cancer risk. 25051148 2014