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: C0456861
Disease: Low grade B-cell lymphoma
Low grade B-cell lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 17 1 0.010 None 1.000 1 2015 2015
CUI: C4725024
Disease: Refractory Leukemia
Refractory Leukemia 		disease Neoplasms Neoplastic Process 17 0.010 None 1.000 1 2019 2019
CUI: C2931322
Disease: T-Lymphocytopenia
T-Lymphocytopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Finding 17 0.100 None 0
CUI: C0268393
Disease: Familial Cerebral Amyloid Angiopathy
Familial Cerebral Amyloid Angiopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 18 0.010 None 1.000 1 1997 1997
CUI: C0403601
Disease: Transplant glomerulopathy
Transplant glomerulopathy 		disease Disease or Syndrome 19 0.010 None 1.000 1 2010 2010
CUI: C1510489
Disease: Cerebral Amyloid Angiopathy, Hereditary
Cerebral Amyloid Angiopathy, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 19 4 0.010 None 1.000 1 1997 1997
CUI: C1301359
Disease: Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma
Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 20 0.010 None 1.000 1 2018 2018
CUI: C0398597
Disease: Histiocytic syndrome
Histiocytic syndrome 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 21 2 0.020 None 0.500 2 2004 2019
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 21 182 0.010 None 1.000 1 1991 1991
CUI: C1281914
Disease: Corneal allograft rejection
Corneal allograft rejection 		disease Disease or Syndrome 21 3 0.010 None 1.000 1 2019 2019
CUI: C0239211
Disease: Oedema auricular
Oedema auricular 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 24 0.010 None 1.000 1 2018 2018
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		disease Neoplasms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 25 2 0.010 None < 0.001 1 2017 2017
CUI: C0282548
Disease: Leukostasis
Leukostasis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 25 0.010 None 1.000 1 2016 2016
CUI: C0855146
Disease: B Lymphoblastic Lymphoma
B Lymphoblastic Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 25 0.010 None < 0.001 1 1998 1998
CUI: C0280216
Disease: stage, neuroblastoma
stage, neuroblastoma 		disease Neoplasms Neoplastic Process 27 4 0.010 None 1.000 1 2003 2003
CUI: C0349217
Disease: Depressive episode, unspecified
Depressive episode, unspecified 		disease Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 27 2 0.010 None < 0.001 1 2019 2019
CUI: C0152276
Disease: Granulocytic Sarcoma
Granulocytic Sarcoma 		disease Neoplasms Neoplastic Process 28 1 0.020 None 1.000 2 2000 2007
CUI: C0281710
Disease: Childhood Large Cell Lymphoma
Childhood Large Cell Lymphoma 		disease Neoplastic Process 30 0.020 None 1.000 2 1999 2001
CUI: C0019618
Disease: Histiocytosis
Histiocytosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 32 3 0.030 None 0.333 3 2004 2019
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 34 2 0.010 None 1.000 1 2012 2012
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 35 48 0.300 strong 1.000 1 2012 2012
CUI: C0333997
Disease: Lymphoid hyperplasia
Lymphoid hyperplasia 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 39 0.010 None 1.000 1 2018 2018
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		disease Disease or Syndrome 39 9 0.010 None 1.000 1 2011 2011
CUI: C2936380
Disease: Neointima
Neointima 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 40 0.200 None 1.000 1 2002 2002
CUI: C2930967
Disease: Gastro-enteropancreatic neuroendocrine tumor
Gastro-enteropancreatic neuroendocrine tumor 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 41 4 0.300 None 1.000 1 2018 2018