Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 Biomarker disease CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.350 Biomarker group CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0025202
Disease: melanoma
melanoma 		0.400 Biomarker disease CTD_human Genetic alterations driving metastatic colony formation are acquired outside of the primary tumour in melanoma. 29426936 2018
CUI: C0024232
Disease: Lymphatic Metastasis
Lymphatic Metastasis 		0.320 Biomarker disease CTD_human Genetic alterations driving metastatic colony formation are acquired outside of the primary tumour in melanoma. 29426936 2018
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Recurrent Mutations of Chromatin-Remodeling Genes and Kinase Receptors in Pheochromocytomas and Paragangliomas. 26700204 2016
CUI: C1836723
Disease: Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum
Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum 		0.300 GermlineCausalMutation disease ORPHANET Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. 26637977 2015
CUI: C4085248
Disease: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO
OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO 		0.300 GermlineCausalMutation phenotype ORPHANET Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. 26637977 2015
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma 		0.800 SomaticCausalMutation disease ORPHANET Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma. 26536169 2016
CUI: C4084709
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 97
DEAFNESS, AUTOSOMAL RECESSIVE 97 		0.510 GeneticVariation disease UNIPROT A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss. 25941349 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss. 25941349 2015
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		0.340 Biomarker disease CTD_human MicroRNA and mRNA features of malignant pleural mesothelioma and benign asbestos-related pleural effusion. 25756049 2015
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma 		0.800 Biomarker disease CTD_human Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. 25401301 2015
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.600 Biomarker disease CTD_human Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. 25401301 2015
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.400 Biomarker disease CTD_human Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. 25401301 2015
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. 25401301 2015
CUI: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. 25401301 2015
CUI: C1266044
Disease: Collecting Duct Carcinoma of the Kidney
Collecting Duct Carcinoma of the Kidney 		0.300 Biomarker disease CTD_human Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. 25401301 2015
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.600 Biomarker disease CTD_human KRAS mutation status is associated with enhanced dependency on folate metabolism pathways in non-small cell lung cancer cells. 24688052 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.400 Biomarker disease CTD_human Some of these EGFR-mutated PDXs do not respond to erlotinib: LU1868 containing L858R/T790M mutations, and LU0858 having L858R mutation as well as c-MET gene amplification, both squamous cell carcinoma (SCC). 22948846 2013
CUI: C0019189
Disease: Hepatitis, Chronic
Hepatitis, Chronic 		0.300 Biomarker disease CTD_human COMMD1-deficient dogs accumulate copper in hepatocytes and provide a good model for chronic hepatitis and fibrosis. 22879914 2012
CUI: C0149519
Disease: Chronic Persistent Hepatitis
Chronic Persistent Hepatitis 		0.300 Biomarker disease CTD_human COMMD1-deficient dogs accumulate copper in hepatocytes and provide a good model for chronic hepatitis and fibrosis. 22879914 2012
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		0.300 Biomarker disease CTD_human COMMD1-deficient dogs accumulate copper in hepatocytes and provide a good model for chronic hepatitis and fibrosis. 22879914 2012
CUI: C0524611
Disease: Cryptogenic Chronic Hepatitis
Cryptogenic Chronic Hepatitis 		0.300 Biomarker disease CTD_human COMMD1-deficient dogs accumulate copper in hepatocytes and provide a good model for chronic hepatitis and fibrosis. 22879914 2012
CUI: C1876165
Disease: Copper-Overload Cirrhosis
Copper-Overload Cirrhosis 		0.300 Biomarker disease CTD_human COMMD1-deficient dogs accumulate copper in hepatocytes and provide a good model for chronic hepatitis and fibrosis. 22879914 2012
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.600 Biomarker disease CTD_human Biomarkers that currently affect clinical practice: EGFR, ALK, MET, KRAS. 22787409 2012