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: C4745064
Disease: Recurrent Biliary Tract Carcinoma
Recurrent Biliary Tract Carcinoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2008 2008
CUI: C4684880
Disease: Advanced Bile Duct Carcinoma
Advanced Bile Duct Carcinoma 		disease Neoplastic Process 19 0.010 None 1.000 1 2010 2010
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 20 31 0.010 None 1.000 1 2009 2009
CUI: C4745063
Disease: Biliary Tract Carcinoma
Biliary Tract Carcinoma 		disease Neoplastic Process 25 1 0.010 None 1.000 1 2008 2008
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2000 2000
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2000 2000
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2000 2000
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 29 0.300 None 1.000 1 2000 2000
CUI: C0702169
Disease: Acrania
Acrania 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 31 0.300 None 1.000 1 2000 2000
CUI: C3714644
Disease: Thymus Neoplasms
Thymus Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 31 1 0.010 None 1.000 1 2013 2013
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 0.300 None 1.000 1 2000 2000
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		phenotype Laboratory Procedure 40 220 0.100 None 1.000 1 1 2008 2008
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 41 2 0.300 None 1.000 1 2000 2000
CUI: C2718017
Disease: TDP-43 Proteinopathies
TDP-43 Proteinopathies 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 44 1 0.010 None 1.000 1 2012 2012
CUI: C0266453
Disease: Exencephaly
Exencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 47 0.300 None 1.000 1 2000 2000
CUI: C1568868
Disease: Oral Mucositis
Oral Mucositis 		disease Stomatognathic Diseases Disease or Syndrome 59 16 0.010 None 1.000 1 2018 2018
CUI: C0346402
Disease: Malignant neoplasm of adrenal cortex
Malignant neoplasm of adrenal cortex 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 60 1 0.020 None 1.000 2 2012 2015
CUI: C0041912
Disease: Upper Respiratory Infections
Upper Respiratory Infections 		group Infections; Respiratory Tract Diseases Disease or Syndrome 64 6 0.010 None 1.000 1 2011 2011
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 70 111 0.020 None 1.000 2 2004 2017
CUI: C0679427
Disease: myeloblastosis
myeloblastosis 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 72 0.010 None 1.000 1 2006 2006
CUI: C0280217
Disease: stage, non-small cell lung cancer
stage, non-small cell lung cancer 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 107 6 0.020 None 1.000 2 2007 2010
CUI: C0038362
Disease: Stomatitis
Stomatitis 		disease Stomatognathic Diseases Disease or Syndrome 109 22 0.010 None 1.000 1 2018 2018
CUI: C0278504
Disease: Non-small cell lung cancer stage I
Non-small cell lung cancer stage I 		disease Neoplastic Process 115 1 0.010 None 1.000 1 2016 2016
CUI: C0278874
Disease: Adult Ependymoma
Adult Ependymoma 		disease Neoplasms Neoplastic Process 144 3 0.010 None 1.000 1 2018 2018
CUI: C0796611
Disease: Newly Diagnosed Childhood Ependymoma
Newly Diagnosed Childhood Ependymoma 		disease Neoplasms Neoplastic Process 144 3 0.010 None 1.000 1 2018 2018