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: C4528176
Disease: High Risk Myelodysplastic Syndrome
High Risk Myelodysplastic Syndrome 		disease Hemic and Lymphatic Diseases Neoplastic Process 19 0.010 None 1.000 1 2012 2012
CUI: C0033046
Disease: Premenstrual syndrome
Premenstrual syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 21 1 0.010 None 1.000 1 2017 2017
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 45 13 0.010 None 1.000 1 2003 2003
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		disease Endocrine System Diseases Disease or Syndrome 57 70 0.010 None 1.000 1 2003 2003
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction 		phenotype Digestive System Diseases Finding 73 0.300 None 1.000 1 2010 2010
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis 		disease Eye Diseases Disease or Syndrome 90 30 0.010 None 1.000 1 2018 2018
CUI: C0017160
Disease: Gastroenteritis
Gastroenteritis 		disease Digestive System Diseases Disease or Syndrome 94 0.010 None 1.000 1 2018 2018
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 106 16 0.010 None 1.000 1 2007 2007
CUI: C0043144
Disease: Wheezing
Wheezing 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 132 54 0.010 None 1.000 1 2 2014 2014
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 141 13 0.010 None 1.000 1 2004 2004
CUI: C0235874
Disease: Disease Exacerbation
Disease Exacerbation 		phenotype Pathological Conditions, Signs and Symptoms Finding 166 0.300 None 1.000 1 2016 2016
CUI: C0042164
Disease: Uveitis
Uveitis 		disease Eye Diseases Disease or Syndrome 247 43 0.010 None 1.000 1 2018 2018
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		disease Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 370 195 0.100 None 1.000 1 1 2011 2011
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		disease Digestive System Diseases Disease or Syndrome 379 56 0.010 None 1.000 1 2017 2017
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 430 96 0.010 None 1.000 1 1 2015 2015
CUI: C0021368
Disease: Inflammation
Inflammation 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.010 None 1.000 1 2003 2003
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.010 None 1.000 1 2003 2003
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.010 None 1.000 1 2019 2019
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 518 138 0.010 None 1.000 1 2012 2012
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		group Infections Disease or Syndrome 616 17 0.010 None 1.000 1 2019 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		disease Neoplasms Neoplastic Process 633 22 0.020 None 1.000 2 2012 2018
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.010 None 1.000 1 2019 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.300 None 1.000 1 2010 2010