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: C1856453
Disease: Mild thrombocytopenia
Mild thrombocytopenia 		phenotype Finding 1 0.300 limited 1.000 1 2015 2015
CUI: C4706584
Disease: Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) 		disease Neoplastic Process 2 0.300 None 1.000 1 2009 2009
CUI: C0425782
Disease: Breast size
Breast size 		phenotype Finding 16 38 0.100 None 1.000 2 3 2016 2018
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement 		phenotype Laboratory Procedure 29 51 0.100 None 1.000 1 1 2018 2018
CUI: C0876991
Disease: Histiocytosis haematophagic
Histiocytosis haematophagic 		disease Disease or Syndrome 36 2 0.010 None 1.000 1 2012 2012
CUI: C0279632
Disease: Adult Acute Megakaryoblastic Leukemia
Adult Acute Megakaryoblastic Leukemia 		disease Neoplasms Neoplastic Process 38 4 0.050 None 1.000 5 2001 2012
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		disease Neoplastic Process 41 103 0.100 None 1.000 1 1 2018 2018
CUI: C0279650
Disease: Childhood Acute Megakaryoblastic Leukemia
Childhood Acute Megakaryoblastic Leukemia 		disease Neoplasms Neoplastic Process 45 4 0.050 None 1.000 5 2001 2012
CUI: C0034888
Disease: Rectal Prolapse
Rectal Prolapse 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 46 1 0.010 None 1.000 1 2017 2017
CUI: C0149725
Disease: Lower respiratory tract infection
Lower respiratory tract infection 		group Infections; Respiratory Tract Diseases Disease or Syndrome 63 7 0.010 None 1.000 1 2019 2019
CUI: C4511687
Disease: Pancreatic Intraductal Papillary Mucinous Neoplasm
Pancreatic Intraductal Papillary Mucinous Neoplasm 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 84 8 0.010 None 1.000 1 2016 2016
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 2015 2015
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		phenotype Laboratory Procedure 124 243 0.100 None 1.000 1 1 2018 2018
CUI: C0677898
Disease: invasive cancer
invasive cancer 		phenotype Neoplasms Neoplastic Process 146 15 0.010 None 1.000 1 2009 2009
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		disease Neoplasms Neoplastic Process 159 15 0.100 None 1.000 36 2001 2020
CUI: C1848296
Disease: DOSAGE-SENSITIVE SEX REVERSAL
DOSAGE-SENSITIVE SEX REVERSAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 159 12 0.010 None 1.000 1 2017 2017
CUI: C0220615
Disease: Adult Acute Myeloblastic Leukemia
Adult Acute Myeloblastic Leukemia 		disease Neoplasms Neoplastic Process 160 3 0.010 None 1.000 1 2005 2005
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		group Mental Disorders Mental or Behavioral Dysfunction 168 379 0.100 None 1.000 1 1 2017 2017
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 176 45 0.010 None 1.000 1 2017 2017
CUI: C0026499
Disease: Monosomy
Monosomy 		group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.010 None 1.000 1 2016 2016
CUI: C0343401
Disease: MRSA - Methicillin resistant Staphylococcus aureus infection
MRSA - Methicillin resistant Staphylococcus aureus infection 		disease Infections Disease or Syndrome 222 1 0.010 None 1.000 1 2014 2014
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma 		disease Neoplasms; Infections Neoplastic Process 226 10 0.020 None 1.000 2 2015 2017
CUI: C0004610
Disease: Bacteremia
Bacteremia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 233 7 0.050 None 1.000 5 2008 2019
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		disease Disease or Syndrome 297 3 0.010 None 1.000 1 2017 2017
CUI: C0011644
Disease: Scleroderma
Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.010 None 1.000 1 2015 2015