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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2008 2008
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 92 32 0.010 None 1.000 1 1 2015 2015
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 20 1 0.010 None 1.000 1 2002 2002
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2017 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2008 2008
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 255 41 0.010 None 1.000 1 2015 2015
CUI: C0037231
Disease: Sjogren-Larsson Syndrome
Sjogren-Larsson Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 20 28 0.010 None 1.000 1 2002 2002
CUI: C0275814
Disease: Streptococcal lymphadenitis of swine
Streptococcal lymphadenitis of swine 		disease Infections; Hemic and Lymphatic Diseases Disease or Syndrome 13 1 0.010 None 1.000 1 2002 2002
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2002 2002
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 111 7 0.010 None 1.000 1 2017 2017
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.010 None 1.000 1 2018 2018
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 15 0.010 None 1.000 1 2002 2002
CUI: C1846980
Disease: Senior-Loken Syndrome 3
Senior-Loken Syndrome 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2002 2002
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2014 2014
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		disease Nervous System Diseases Disease or Syndrome 44 6 0.010 None 1.000 1 2002 2002
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		disease Nervous System Diseases Disease or Syndrome 46 27 0.020 None 1.000 2 1 2015 2015
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.060 None 1.000 6 1 2014 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.090 None 0.889 9 2 2014 2018
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 4 3 2013 2018
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		phenotype Laboratory or Test Result 593 988 0.100 None 1.000 3 3 2016 2019
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		phenotype Laboratory Procedure 593 988 0.100 None 1.000 3 3 2016 2019
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 2 2 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 2013 2013
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2013 2013
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018