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.
Progeroid Syndrome, Congenital, Petty Type
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 2 0.620 None 1.000 4 2 2017 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 2 2016 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.020 None 1.000 2 2019 2019
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.010 None 1.000 1 2019 2019
CUI: C0857490
Disease: Granulocyte count
Granulocyte count
phenotype Laboratory Procedure 100 150 0.100 None 1.000 1 1 2016 2016
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 183 21 0.010 None 1.000 1 2019 2019
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 1 2016 2016
CUI: C2931653
Disease: Petty Laxova Wiedemann syndrome
Petty Laxova Wiedemann syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 None 1.000 1 2017 2017
CUI: C0345382
Disease: Gorlin Chaudhry Moss syndrome
Gorlin Chaudhry Moss syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1 2 0.310 None 1.000 1 2 2017 2017
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 92 27 0.110 None 1.000 1 2017 2017
CUI: C2584409
Disease: Prothrombin G20210A mutation
Prothrombin G20210A mutation
disease Hemic and Lymphatic Diseases Disease or Syndrome 20 9 0.010 None 1.000 1 2006 2006
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 3097 353 0.100 None 1.000 1 1 2009 2009
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2016 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2019 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None < 0.001 1 2011 2011
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.010 None 1.000 1 2017 2017
CUI: C0795932
Disease: fontaine syndrome
fontaine syndrome
disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None < 0.001 1 2011 2011
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2019 2019
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
phenotype Laboratory Procedure 145 234 0.100 None 1.000 1 1 2016 2016
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 180 72 0.100 None 1.000 1 1 2009 2009
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger
phenotype Finding 85 3 0.100 None 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
phenotype Finding 100 26 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly
phenotype Finding 93 3 0.100 None 0