Source: ALL
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: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.080 None 0.875 8 2007 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.040 None 1.000 4 2009 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 137 35 0.020 None 1.000 2 2010 2013
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1224 129 0.020 None 1.000 2 2015 2018
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 174 1331 0.020 None 1.000 2 2010 2016
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.020 None 1.000 2 2010 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.500 strong 1.000 1 2017 2017
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.500 strong 1.000 1 2017 2017
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 103 10 0.010 None 1.000 1 2019 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		disease Neoplasms Neoplastic Process 633 22 0.300 strong 1.000 1 2017 2017
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 116 25 0.010 None 1.000 1 2009 2009
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		disease Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases Neoplastic Process 75 43 0.010 None 1.000 1 2011 2011
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		disease Congenital Abnormality 99 50 0.010 None 1.000 1 2014 2014
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.400 strong 1.000 1 2017 2017
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 182 9 0.300 strong 1.000 1 2017 2017
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 71 0.010 None 1.000 1 2019 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.010 None 1.000 1 2017 2017
CUI: C1698259
Disease: HCV coinfection
HCV coinfection 		disease Disease or Syndrome 37 5 0.010 None 1.000 1 2014 2014
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.010 None 1.000 1 2009 2009
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype Finding 64 5 0.400 strong 1.000 1 2017 2017
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.300 strong 1.000 1 2017 2017
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		disease Neoplasms Neoplastic Process 63 18 0.010 None 1.000 1 2019 2019
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 156 44 0.010 None 1.000 1 2017 2017
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		disease Digestive System Diseases Disease or Syndrome 282 21 0.200 None 1.000 1 2014 2014
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 71 15 0.010 None 1.000 1 2017 2017