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: C1333383
Disease: Encapsulated Thymoma
Encapsulated Thymoma 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 8 0.010 None 1.000 1 2005 2005
CUI: C1334003
Disease: Barretts esophagus with high grade dysplasia
Barretts esophagus with high grade dysplasia 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 12 0.010 None 1.000 1 2013 2013
CUI: C1970712
Disease: Multiple Endocrine Neoplasia, Type IV
Multiple Endocrine Neoplasia, Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 13 23 0.020 None 1.000 2 2012 2013
CUI: C0271375
Disease: Fourth cranial nerve paresis
Fourth cranial nerve paresis 		disease Nervous System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2018 2018
CUI: C0259770
Disease: Epithelial inclusion cyst
Epithelial inclusion cyst 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Anatomical Abnormality 14 0.010 None 1.000 1 2003 2003
CUI: C2676191
Disease: PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder) 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 16 6 0.010 None 1.000 1 2012 2012
CUI: C0521720
Disease: Corneal fibrosis
Corneal fibrosis 		disease Eye Diseases Disease or Syndrome 17 0.010 None 1.000 1 2018 2018
CUI: C0240164
Disease: Squamous Papilloma of the Larynx
Squamous Papilloma of the Larynx 		disease Neoplasms Neoplastic Process 18 0.020 None 1.000 2 2002 2017
CUI: C0334431
Disease: Melanocytoma
Melanocytoma 		disease Neoplastic Process 18 3 0.010 None 1.000 1 2013 2013
CUI: C4525405
Disease: Eyelid Sebaceous Gland Carcinoma
Eyelid Sebaceous Gland Carcinoma 		disease Neoplastic Process 18 0.010 None 1.000 1 2014 2014
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 20 34 0.010 None 1.000 1 2009 2009
CUI: C1334647
Disease: Maxillary Sinus Squamous Cell Carcinoma
Maxillary Sinus Squamous Cell Carcinoma 		disease Neoplastic Process 24 0.010 None 1.000 1 2005 2005
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 25 8 0.010 None 1.000 1 2001 2001
CUI: C1858592
Disease: Carney Triad
Carney Triad 		disease Digestive System Diseases; Neoplasms; Respiratory Tract Diseases Disease or Syndrome 25 6 0.010 None 1.000 1 2009 2009
CUI: C0280451
Disease: de novo myelodysplastic syndromes
de novo myelodysplastic syndromes 		disease Hemic and Lymphatic Diseases Neoplastic Process 27 4 0.010 None 1.000 1 2005 2005
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 30 12 0.010 None 1.000 1 2012 2012
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		disease Skin and Connective Tissue Diseases Disease or Syndrome 37 5 0.010 None < 0.001 1 2014 2014
CUI: C4524257
Disease: MSI-low
MSI-low 		disease Neoplastic Process 37 2 0.010 None 1.000 1 2011 2011
CUI: C0079747
Disease: Low Grade Lymphoma (neoplasm)
Low Grade Lymphoma (neoplasm) 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 39 0.010 None 1.000 1 2000 2000
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 43 255 0.010 None 1.000 1 2011 2011
CUI: C0334581
Disease: Gemistocytic astrocytoma
Gemistocytic astrocytoma 		disease Neoplasms Neoplastic Process 45 0.010 None 1.000 1 2006 2006
CUI: C1881254
Disease: Inverted Squamous Cell Papilloma
Inverted Squamous Cell Papilloma 		disease Neoplasms Neoplastic Process 46 1 0.010 None 1.000 1 2014 2014
CUI: C0948750
Disease: Salivary gland carcinoma
Salivary gland carcinoma 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 47 5 0.020 None 1.000 2 2014 2019
CUI: C0206706
Disease: Verrucous carcinoma
Verrucous carcinoma 		disease Neoplasms Neoplastic Process 49 0.010 None 1.000 1 1999 1999
CUI: C0206721
Disease: Inverted Papilloma
Inverted Papilloma 		disease Neoplasms Neoplastic Process 51 1 0.020 None 0.500 2 2003 2014