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: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.010 None 1.000 1 2013 2013
CUI: C4725076
Disease: Advanced Urothelial Carcinoma
Advanced Urothelial Carcinoma 		disease Neoplastic Process 18 0.010 None 1.000 1 2014 2014
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1286 214 0.010 None 1.000 1 2009 2009
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		group Neoplasms; Stomatognathic Diseases Neoplastic Process 756 184 0.010 None 1.000 1 2007 2007
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		disease Neoplastic Process 167 41 0.010 None 1.000 1 2016 2016
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2010 2010
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		disease Neoplasms Neoplastic Process 557 91 0.010 None 1.000 1 2014 2014
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1224 129 0.010 None 1.000 1 2018 2018
CUI: C4048328
Disease: cervical cancer
cervical cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1817 268 0.010 None 1.000 1 2007 2007
CUI: C1695782
Disease: Cerebral hypoperfusion
Cerebral hypoperfusion 		disease Disease or Syndrome 40 1 0.010 None 1.000 1 2018 2018
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2010 2010
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 104 12 0.010 None 1.000 1 2016 2016
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 17 0.010 None 1.000 1 2010 2010
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 23 1 0.010 None 1.000 1 2010 2010
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.010 None 1.000 1 2002 2002
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.010 None 1.000 1 2018 2018
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		disease Neoplastic Process 245 80 0.010 None 1.000 1 2016 2016
CUI: C1336527
Disease: Carcinoma of urinary bladder, superficial
Carcinoma of urinary bladder, superficial 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 66 6 0.010 None 1.000 1 2005 2005
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 1553 320 0.010 None 1.000 1 2011 2011
CUI: C2938983
Disease: Focal cortical dysplasia
Focal cortical dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 44 0.010 None 1.000 1 2016 2016
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.010 None 1.000 1 2002 2002
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		disease Skin and Connective Tissue Diseases Disease or Syndrome 302 92 0.010 None 1.000 1 2015 2015
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 853 42 0.010 None 1.000 1 2012 2012
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		disease Neoplasms Neoplastic Process 786 118 0.010 None 1.000 1 2013 2013
CUI: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion 		disease Disease or Syndrome 88 14 0.010 None 1.000 1 2011 2011