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: C0432219
Disease: Opsismodysplasia
Opsismodysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 12 0.740 1.000 4 12 2013 2018
Diabetes Mellitus, Non-Insulin-Dependent
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1671 1522 0.380 1.000 8 2002 2015
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 547 293 0.350 1.000 5 2 2004 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.330 1.000 3 2 2004 2015
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Digestive System Diseases Experimental Model of Disease 800 0.300 1 2015 2015
CUI: C0432194
Disease: Schneckenbecken dysplasia
Schneckenbecken dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 3 0.300 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 moderate 0
CUI: C0024236
Disease: Lymphedema
Lymphedema
disease Hemic and Lymphatic Diseases Disease or Syndrome 49 1 0.110 1.000 1 2015 2015
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 767 331 0.100 1 1 2013 2013
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen
phenotype Finding 19 0.100 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
phenotype Anatomical Abnormality 159 1 0.100 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 0
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia
phenotype Finding 13 0.100 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia
phenotype Finding 14 0.100 0
CUI: C1854912
Disease: Short long bone
Short long bone
phenotype Finding 33 1 0.100 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 178 4 0.100 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 276 3 0.100 0
CUI: C1850293
Disease: Severe platyspondyly
Severe platyspondyly
phenotype Finding 5 0.100 0
Disproportionate short-limb short stature
phenotype Finding 32 2 0.100 0
CUI: C1837082
Disease: Metaphyseal cupping
Metaphyseal cupping
phenotype Finding 11 0.100 0
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype Finding 32 0.100 0
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype Finding 38 2 0.100 0
CUI: C1837483
Disease: Posterior rib cupping
Posterior rib cupping
phenotype Finding 5 0.100 0
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof
phenotype Finding 16 0.100 0
CUI: C1846154
Disease: Anterior rib cupping
Anterior rib cupping
phenotype Finding 7 0.100 0