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.
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Disease or Syndrome 1 4 0.720 1.000 4 4 1996 2016
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 1875 224 0.480 1.000 10 4 2008 2018
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
disease Neoplastic Process 282 228 0.480 1.000 8 5 2012 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1187 428 0.310 1.000 1 1 2016 2016
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: 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 limited 0
CUI: C0345958
Disease: Large cell carcinoma of lung
Large cell carcinoma of lung
disease Neoplastic Process 57 3 0.300 0
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2242 362 0.120 1.000 3 5 2007 2016
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
phenotype Laboratory Procedure 154 573 0.100 1 4 2011 2011
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
phenotype Laboratory or Test Result 154 573 0.100 1 4 2011 2011
CUI: C0013312
Disease: Dupuytren Contracture
Dupuytren Contracture
disease Musculoskeletal Diseases; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 47 32 0.100 1 1 2017 2017
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 276 3 0.100 0
CUI: C1848490
Disease: Protruding eyes
Protruding eyes
phenotype Finding 136 0.100 0
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype Finding 41 0.100 0
CUI: C0876973
Disease: Infectious disease of lung
Infectious disease of lung
group Disease or Syndrome 111 1 0.100 0
Disproportionate short-limb short stature
phenotype Finding 32 2 0.100 0
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis
phenotype Finding 26 0.100 0
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder
disease Congenital Abnormality 24 1 0.100 0
CUI: C0748140
Disease: Multiple pulmonary infections
Multiple pulmonary infections
disease Disease or Syndrome 38 0.100 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 157 0.100 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 178 4 0.100 0
CUI: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype Acquired Abnormality 417 8 0.100 0
CUI: C1848446
Disease: C1-C2 subluxation
C1-C2 subluxation
phenotype Finding 3 0.100 0
CUI: C1848109
Disease: Long fibula
Long fibula
phenotype Finding 4 0.100 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal
phenotype Finding 63 2 0.100 0