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: C0035440
Disease: Acute rheumatic heart disease
Acute rheumatic heart disease 		disease Infections; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C0007855
Disease: Cervical polyp
Cervical polyp 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 3 0.010 None < 0.001 1 2011 2011
CUI: C0338342
Disease: Recurrent Childhood Medulloblastoma
Recurrent Childhood Medulloblastoma 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2019 2019
CUI: C1335712
Disease: Recurrent Medulloblastoma
Recurrent Medulloblastoma 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2019 2019
CUI: C0267008
Disease: Erythroplakia of mouth
Erythroplakia of mouth 		disease Disease or Syndrome 5 0.020 None 1.000 2 2013 2020
CUI: C0855138
Disease: Mantle cell lymphoma refractory
Mantle cell lymphoma refractory 		disease Neoplastic Process 6 0.010 None 1.000 1 2014 2014
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 7 9 0.010 None 1.000 1 2018 2018
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 9 4 0.010 None 1.000 1 2013 2013
CUI: C0242073
Disease: Pulmonary congestion
Pulmonary congestion 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2015 2015
CUI: C2242704
Disease: Chronic myeloid leukaemia transformation
Chronic myeloid leukaemia transformation 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 11 0.010 None 1.000 1 2007 2007
CUI: C0023472
Disease: Leukemia, Myeloid, Accelerated Phase
Leukemia, Myeloid, Accelerated Phase 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 12 0.300 None 1.000 1 2014 2014
CUI: C1257840
Disease: Aganglionosis, Rectosigmoid Colon
Aganglionosis, Rectosigmoid Colon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 15 0.300 None 1.000 1 2018 2018
CUI: C0027686
Disease: Pathologic Neovascularization
Pathologic Neovascularization 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 16 0.300 None 1.000 1 2013 2013
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 18 16 0.300 None 1.000 1 2018 2018
CUI: C0936282
Disease: Blastoma
Blastoma 		disease Neoplasms Neoplastic Process 20 0.010 None 1.000 1 2010 2010
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 21 25 0.010 None 1.000 1 2013 2013
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 21 101 0.010 None 1.000 1 2017 2017
CUI: C0334279
Disease: Adenocarcinoma, intestinal type
Adenocarcinoma, intestinal type 		disease Neoplasms Neoplastic Process 23 2 0.010 None 1.000 1 2012 2012
CUI: C0278802
Disease: Recurrent Endometrial Cancer
Recurrent Endometrial Cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 24 2 0.010 None 1.000 1 2018 2018
CUI: C0266258
Disease: Congenital absence of liver
Congenital absence of liver 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 25 2 0.010 None < 0.001 1 2017 2017
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 36 11 0.300 None 1.000 1 2018 2018
CUI: C0862196
Disease: Mycosis fungoides/Sezary syndrome NOS
Mycosis fungoides/Sezary syndrome NOS 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 36 0.010 None 1.000 1 2007 2007
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia 		phenotype Hemic and Lymphatic Diseases Pathologic Function 38 0.300 None 1.000 1 2014 2014
CUI: C0220603
Disease: Childhood Brain Neoplasm
Childhood Brain Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 44 1 0.010 None 1.000 1 2019 2019
CUI: C0023464
Disease: Acute biphenotypic leukemia
Acute biphenotypic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 45 0.010 None 1.000 1 2008 2008