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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2007 2007
CUI: C1266134
Disease: Spindle cell rhabdomyosarcoma
Spindle cell rhabdomyosarcoma
disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 9 0.010 None 1.000 1 2016 2016
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 103 5 0.010 None 1.000 1 2017 2017
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 855 24 0.010 None 1.000 1 2019 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.010 None 1.000 1 2013 2013
CUI: C4554010
Disease: Isomerism (body)
Isomerism (body)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 9 0.010 None 1.000 1 2005 2005
Idiopathic premature ovarian failure
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2012 2012
CUI: C3887524
Disease: Skin Erosion
Skin Erosion
disease Skin and Connective Tissue Diseases Disease or Syndrome 225 2 0.010 None 1.000 1 2011 2011
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 2165 159 0.010 None 1.000 1 2017 2017
CUI: C0001621
Disease: Adrenal Gland Diseases
Adrenal Gland Diseases
group Endocrine System Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2009 2009
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
phenotype Endocrine System Diseases Disease or Syndrome 90 10 0.010 None 1.000 1 2009 2009
Oestrogen receptor positive breast cancer
disease Neoplastic Process 510 58 0.010 None 1.000 1 2009 2009
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2018 2018
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.010 None 1.000 1 2017 2017
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect
disease Congenital Abnormality 51 45 0.010 None 1.000 1 1 2017 2017
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.010 None 1.000 1 2017 2017
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2017 2017
CUI: C1848296
Disease: DOSAGE-SENSITIVE SEX REVERSAL
DOSAGE-SENSITIVE SEX REVERSAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 159 12 0.010 None 1.000 1 2009 2009
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2019 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.010 None 1.000 1 2007 2007
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.010 None 1.000 1 2019 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2018 2018
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 2016 2016
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2019 2019
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 281 46 0.010 None 1.000 1 2007 2007