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: C0238402
Disease: Pycnodysostosis
Pycnodysostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 6 24 0.800 1.000 34 24 1995 2017
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 1936 180 0.310 1.000 2 2015 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.310 1.000 2 2006 2009
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: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma
disease Neoplasms Neoplastic Process 77 1 0.300 1 2015 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 853 42 0.300 1 2015 2015
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 203 47 0.300 0
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 213 37 0.300 strong 2 2012 2014
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 113 36 0.200 1 2008 2008
CUI: C0029882
Disease: Otitis Media
Otitis Media
disease Otorhinolaryngologic Diseases Disease or Syndrome 100 4 0.200 1 2004 2004
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 151 13 0.130 1.000 3 1 2000 2010
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis
disease Musculoskeletal Diseases Disease or Syndrome 43 0.110 1.000 1 2007 2007
Failure of exfoliation of primary tooth
phenotype Disease or Syndrome 8 0.100 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 203 6 0.100 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 129 1 0.100 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease Congenital Abnormality 215 0.100 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
phenotype Finding 83 0.100 0
CUI: C0221204
Disease: Lytic lesion
Lytic lesion
phenotype Musculoskeletal Diseases Pathologic Function 40 0.100 0
CUI: C2673410
Disease: Small midface
Small midface
phenotype Finding 157 1 0.100 0
CUI: C3806283
Disease: Frequent fractures
Frequent fractures
phenotype Finding 71 0.100 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate
phenotype Finding 71 0.100 0
CUI: C1862425
Disease: Prominent globes
Prominent globes
phenotype Finding 138 2 0.100 0
CUI: C0037932
Disease: Curvature of spine
Curvature of spine
phenotype Musculoskeletal Diseases Finding 407 11 0.100 0
CUI: C0038016
Disease: Spondylolisthesis
Spondylolisthesis
phenotype Musculoskeletal Diseases Disease or Syndrome 8 0.100 0
CUI: C0038018
Disease: Spondylolysis
Spondylolysis
disease Musculoskeletal Diseases Disease or Syndrome 7 0.100 0