Source: ALL
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; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 5 0.730 strong 1.000 5 4 1993 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2507 257 0.500 None 1.000 12 5 2008 2018
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 670 283 0.490 None 1.000 9 6 2011 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.310 None 1.000 1 1 2015 2015
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.300 None 0
CUI: C0345958
Disease: Large cell carcinoma of lung
Large cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 67 7 0.300 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.938 16 2007 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 0.933 15 1 2008 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.100 None 0.933 15 2006 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 2 5 2011 2019
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 2 2019 2019
CUI: C0346388
Disease: Malignant melanoma of choroid
Malignant melanoma of choroid
disease Neoplasms; Eye Diseases Neoplastic Process 27 5 0.100 None 1.000 1 1 2020 2020
CUI: C0013312
Disease: Dupuytren Contracture
Dupuytren Contracture
disease Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 34 33 0.100 None 1.000 1 1 2017 2017
CUI: C1397139
Disease: Calcification of falx cerebri
Calcification of falx cerebri
disease Disease or Syndrome 6 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal
phenotype Finding 66 7 0.100 None 0
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease Congenital Abnormality 32 16 0.100 None 0
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia
disease Infections; Respiratory Tract Diseases Finding 62 11 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype Finding 41 1 0.100 None 0
CUI: C0264324
Disease: Calcification of trachea
Calcification of trachea
disease Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 3 0.100 None 0
CUI: C0266623
Disease: Congenital anomaly of neck
Congenital anomaly of neck
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 26 0.100 None 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease Acquired Abnormality 73 14 0.100 None 0
CUI: C0410653
Disease: Atlantoaxial instability
Atlantoaxial instability
disease Disease or Syndrome 7 0.100 None 0
CUI: C0426817
Disease: Short ribs
Short ribs
phenotype Finding 60 27 0.100 None 0