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: C3553748
Disease: ADAMS-OLIVER SYNDROME 3
ADAMS-OLIVER SYNDROME 3
disease Disease or Syndrome 1 5 0.600 None 1.000 3 5 2012 2018
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 17 9 0.510 None 1.000 3 2012 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.320 None 1.000 4 2010 2016
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.310 None 1.000 2 2011 2015
CUI: C0014175
Disease: Endometriosis
Endometriosis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.300 None 1.000 1 2012 2012
Multiple Sclerosis, Acute Fulminating
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 45 0.300 None 1.000 1 2015 2015
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 9 12 0.300 None 1.000 1 2012 2012
CUI: C0269102
Disease: Endometrioma
Endometrioma
disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 279 4 0.300 None 1.000 1 2012 2012
Congenital defect of skull and scalp
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 6 0.300 None 0
CUI: C1260873
Disease: Aortic valve disorder
Aortic valve disorder
disease Cardiovascular Diseases Disease or Syndrome 58 0.200 None 0
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.110 None 1.000 1 2 2018 2018
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 3 4 2018 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 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: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 18 0.100 None 0
CUI: C0221373
Disease: Claw hand
Claw hand
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 63 3 0.100 None 0
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 62 10 0.100 None 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 197 21 0.100 None 0
CUI: C0023530
Disease: Leukopenia
Leukopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 440 153 0.100 None 0
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail
phenotype Finding 30 2 0.100 None 0
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 192 50 0.100 None 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype Nervous System Diseases Finding 227 27 0.100 None 0
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 112 9 0.100 None 0