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: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		phenotype Finding 49 2 0.100 None 0
CUI: C0151904
Disease: Aspartate Aminotransferase Increased
Aspartate Aminotransferase Increased 		phenotype Digestive System Diseases Finding 4 0.100 None 0
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.100 None 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.100 None 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 0
CUI: C0017979
Disease: Glycosuria
Glycosuria 		phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 53 7 0.100 None 0
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 875 35 0.100 None 0
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.100 None 0
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality 16 3 0.100 None 0
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		disease Digestive System Diseases Disease or Syndrome 435 51 0.100 None 0
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		phenotype Nutritional and Metabolic Diseases Pathologic Function 162 53 0.100 None 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		disease Skin and Connective Tissue Diseases Disease or Syndrome 64 11 0.100 None 0
CUI: C0037293
Disease: Skin tag
Skin tag 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 17 1 0.100 None 0
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease Eye Diseases Disease or Syndrome 148 10 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0
CUI: C0151905
Disease: Alanine Aminotransferase Increased
Alanine Aminotransferase Increased 		phenotype Digestive System Diseases Finding 1 0.100 None 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 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 2008 2008
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2019 2019
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Congenital Abnormality 25 9 0.010 None 1.000 1 2014 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2012 2012
CUI: C0023524
Disease: Leukoencephalopathy, Progressive Multifocal
Leukoencephalopathy, Progressive Multifocal 		disease Infections; Nervous System Diseases Disease or Syndrome 240 4 0.010 None 1.000 1 2011 2011
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.010 None 1.000 1 2014 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 1 2017 2017