Source: CURATED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 1 59 1.000 definitive 0.987 15 59 1989 2019
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 4 12 0.700 None 0.974 1 5 1994 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 124 66 0.560 None 0.714 1 2005 2017
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 248 212 0.500 None 0.909 0 2005 2018
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 41 195 0.450 None 0.800 0 2005 2016
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 266 173 0.400 None 1.000 2 2004 2019
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 265 0.350 None 1.000 2 2005 2013
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 156 132 0.350 None 1.000 1 2010 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 206 404 0.320 None 1.000 2 2005 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 217 0.310 None 1.000 1 2010 2016
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Pathologic Function 184 0.300 None 1.000 1 2016 2016
CUI: C1449862
Disease: Micronuclei, Genotoxicant-Induced
Micronuclei, Genotoxicant-Induced 		phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 1 2011 2011
CUI: C1449861
Disease: Micronuclei, Chromosome-Defective
Micronuclei, Chromosome-Defective 		phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 1 2011 2011
CUI: C0750905
Disease: Amino Acid Metabolism, Inherited Disorders
Amino Acid Metabolism, Inherited Disorders 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.300 None 1.000 1 1998 1998
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 142 0.300 None 1.000 1 2013 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 261 181 0.300 None 1.000 1 1998 1998
CUI: C0235874
Disease: Disease Exacerbation
Disease Exacerbation 		phenotype Pathological Conditions, Signs and Symptoms Finding 165 0.300 None 1.000 1 2016 2016
CUI: C0004403
Disease: Autosome Abnormalities
Autosome Abnormalities 		group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 None 1.000 1 2010 2010
CUI: C0008625
Disease: Chromosome Aberrations
Chromosome Aberrations 		group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 None 1.000 1 2010 2010
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 142 0.300 None 1.000 1 2013 2013
CUI: C0002514
Disease: Amino Acid Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.300 None 1.000 1 1998 1998
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		disease Neoplasms Neoplastic Process 11 109 0.300 None 0