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: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.300 None 1.000 1 2017 2017
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 22 0.100 None 1.000 5 4 2009 2015
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype Finding 64 116 0.100 None 0 1
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI
phenotype Finding 35 7 0.100 None 0 1
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 0 1
CUI: C0431384
Disease: Colpocephaly
Colpocephaly
disease Nervous System Diseases Congenital Abnormality 17 2 0.100 None 0 1
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 59 14 0.100 None 0 1
CUI: C0266383
Disease: Uterine Anomalies
Uterine Anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 35 1 0.100 None 0 1
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 129 11 0.100 None 0 1
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 77 5 0.100 None 0 1
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.100 None 0 1
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 31 6 0.100 None 0 1
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.100 None 0 1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0 1
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver
phenotype Finding 75 8 0.100 None 0 1
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 1553 320 0.010 None 1.000 1 2015 2015