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: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 47 1.000 definitive 0.968 17 46 1978 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 1.000 1 4 1991 2020
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		disease Neoplasms Neoplastic Process 29 30 0.420 None 1.000 1 2 2007 2018
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 248 212 0.410 None 1.000 0 2013 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 447 6 0.400 limited 1.000 1 2014 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 124 66 0.390 None 1.000 0 1998 2018
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 59 0.380 None 1.000 2 1994 2018
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 59 2 0.330 None 1.000 2 1995 2017
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		disease Neoplasms Neoplastic Process 11 109 0.320 None 1.000 0 2006 2007
CUI: C1449862
Disease: Micronuclei, Genotoxicant-Induced
Micronuclei, Genotoxicant-Induced 		phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 2 1999 2011
CUI: C1449861
Disease: Micronuclei, Chromosome-Defective
Micronuclei, Chromosome-Defective 		phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 2 1999 2011
CUI: C1368275
Disease: Pigmented Basal Cell Carcinoma
Pigmented Basal Cell Carcinoma 		disease Neoplasms Neoplastic Process 28 0.300 None 1.000 1 2007 2007
CUI: C0346627
Disease: Intestinal Cancer
Intestinal Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 12 0.300 None 1.000 1 2006 2006
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: C0021841
Disease: Intestinal Neoplasms
Intestinal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 12 0.300 None 1.000 1 2006 2006
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 142 0.300 None 1.000 1 2013 2013
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 41 195 0.300 None 0