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: C4014833
Disease: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES 		disease Disease or Syndrome 1 3 0.700 None 1.000 3 3 2009 2013
CUI: C4016698
Disease: IMMUNODEFICIENCY 26 WITHOUT NEUROLOGIC ABNORMALITIES
IMMUNODEFICIENCY 26 WITHOUT NEUROLOGIC ABNORMALITIES 		disease Finding 1 1 0.100 None 0 1
CUI: C0001364
Disease: Massive Hepatic Necrosis
Massive Hepatic Necrosis 		phenotype Digestive System Diseases Pathologic Function 2 0.300 None 1.000 1 2011 2011
CUI: C0451693
Disease: Severe combined immunodeficiency with low T- and B-cell numbers
Severe combined immunodeficiency with low T- and B-cell numbers 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 3 0.200 None 1.000 3 1983 1995
CUI: C1865370
Disease: Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe combined immunodeficiency with sensitivity to ionizing radiation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 3 10 0.010 None 1.000 1 1 2009 2009
CUI: C1832322
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 4 32 0.200 None 1.000 3 1983 1995
CUI: C0751197
Disease: Fulminant Hepatic Failure with Cerebral Edema
Fulminant Hepatic Failure with Cerebral Edema 		disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 13 0.300 None 1.000 1 2011 2011
CUI: C0751198
Disease: Hepatic Stupor
Hepatic Stupor 		disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 13 0.300 None 1.000 1 2011 2011
CUI: C0019147
Disease: Hepatic Coma
Hepatic Coma 		disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 0.300 None 1.000 1 2011 2011
CUI: C0021603
Disease: Sleep Initiation and Maintenance Disorders
Sleep Initiation and Maintenance Disorders 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 15 26 0.100 None 1.000 1 1 2018 2018
CUI: C0558355
Disease: Tonsillar Carcinoma
Tonsillar Carcinoma 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 23 0.010 None 1.000 1 2003 2003
CUI: C3163798
Disease: Recurrent lower respiratory tract infection
Recurrent lower respiratory tract infection 		phenotype Disease or Syndrome 23 0.100 None 0
CUI: C0948750
Disease: Salivary gland carcinoma
Salivary gland carcinoma 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 47 5 0.010 None 1.000 1 2015 2015
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		disease Stomatognathic Diseases Disease or Syndrome 80 22 0.100 None 0
CUI: C0153382
Disease: Malignant neoplasm of oropharynx
Malignant neoplasm of oropharynx 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 83 15 0.010 None 1.000 1 2018 2018
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 86 11 0.300 strong 1.000 1 2015 2015
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		group Immune System Diseases Disease or Syndrome 93 23 0.010 None 1.000 1 2012 2012
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy 		disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 100 3 0.300 None 1.000 1 2011 2011
CUI: C0023531
Disease: Leukoplakia
Leukoplakia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 102 8 0.010 None 1.000 1 1 2013 2013
CUI: C2349952
Disease: Oropharyngeal Carcinoma
Oropharyngeal Carcinoma 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 115 15 0.010 None 1.000 1 2018 2018
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 121 8 0.010 None 1.000 1 2016 2016
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 137 35 0.010 None 1.000 1 2010 2010
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
Extrapulmonary Small Cell Carcinoma 		disease Neoplasms Neoplastic Process 157 11 0.010 None 1.000 1 2016 2016
CUI: C3898127
Disease: Non-Metastatic Childhood Soft Tissue Sarcoma
Non-Metastatic Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 160 3 0.010 None 1.000 1 2002 2002
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma 		disease Neoplastic Process 162 3 0.010 None 1.000 1 2002 2002