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.
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.100 None 0.929 14 2001 2019
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer
disease Neoplastic Process 145 9 0.020 None 1.000 2 2006 2011
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma
disease Neoplastic Process 162 3 0.010 None 1.000 1 2010 2010
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma
disease Neoplastic Process 166 3 0.010 None 1.000 1 2010 2010
CUI: C0549523
Disease: Oropharynx (excludes nasopharynx)
Oropharynx (excludes nasopharynx)
disease Disease or Syndrome 94 5 0.010 None 1.000 1 2018 2018
CUI: C1333065
Disease: Lung Clear Cell Tumor
Lung Clear Cell Tumor
disease Neoplastic Process 5 0.010 None 1.000 1 2018 2018
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
disease Neoplastic Process 6 0.010 None 1.000 1 2019 2019
CUI: C1368821
Disease: Ovarian Sclerosing Stromal Tumor
Ovarian Sclerosing Stromal Tumor
disease Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C1378050
Disease: Oncocytic Neoplasm
Oncocytic Neoplasm
disease Neoplastic Process 105 2 0.010 None 1.000 1 2018 2018
CUI: C1402291
Disease: Pigmented lesions
Pigmented lesions
disease Disease or Syndrome 18 3 0.010 None 1.000 1 2017 2017
Non-Metastatic Childhood Soft Tissue Sarcoma
disease Neoplastic Process 160 3 0.010 None 1.000 1 2010 2010
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
disease Disease or Syndrome 632 9 0.010 None 1.000 1 2017 2017
Mucinous tubular and spindle cell carcinoma
disease Neoplastic Process 5 0.010 None 1.000 1 2014 2014
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.060 None 1.000 6 1998 2019
CUI: C0266305
Disease: Fused Kidney
Fused Kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 1 0.050 None 1.000 5 2006 2019
CUI: C0878681
Disease: Dent's disease
Dent's disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 23 12 0.010 None 1.000 1 1993 1993
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 95 34 0.010 None 1.000 1 1993 1993
CUI: C0003615
Disease: Appendicitis
Appendicitis
disease Digestive System Diseases; Infections Disease or Syndrome 83 10 0.010 None 1.000 1 2013 2013
CUI: C0085693
Disease: Acute appendicitis NOS (disorder)
Acute appendicitis NOS (disorder)
disease Digestive System Diseases; Infections Disease or Syndrome 43 2 0.010 None 1.000 1 2013 2013
CUI: C0242363
Disease: Islet Cell Tumor
Islet Cell Tumor
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 108 5 0.010 None 1.000 1 2018 2018
CUI: C1328479
Disease: Pancreatic Endocrine Carcinoma
Pancreatic Endocrine Carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 29 0.010 None 1.000 1 2018 2018
Well Differentiated Pancreatic Endocrine Tumor
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 117 3 0.010 None 1.000 1 2018 2018
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.030 None 1.000 3 2006 2013
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.020 None 1.000 2 2017 2019