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: C4023351
Disease: Hyposegmentation of neutrophil nuclei
Hyposegmentation of neutrophil nuclei 		phenotype Cell or Molecular Dysfunction 4 1 0.100 None 0
CUI: C0398593
Disease: Specific granule deficiency
Specific granule deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 11 6 0.720 strong 1.000 5 1 1999 2018
CUI: C0263385
Disease: Confluent and Reticulate Papillomatosis
Confluent and Reticulate Papillomatosis 		disease Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 6 0.020 None 1.000 2 2017 2019
CUI: C4551556
Disease: SPECIFIC GRANULE DEFICIENCY 1
SPECIFIC GRANULE DEFICIENCY 1 		disease Hemic and Lymphatic Diseases Disease or Syndrome 2 0.500 strong 1.000 2 1999 2018
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		group Infections Disease or Syndrome 616 17 0.010 None 1.000 1 2017 2017
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2017 2017
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.010 None 1.000 1 2019 2019
CUI: C0023524
Disease: Leukoencephalopathy, Progressive Multifocal
Leukoencephalopathy, Progressive Multifocal 		disease Infections; Nervous System Diseases Disease or Syndrome 240 4 0.010 None 1.000 1 2018 2018
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 766 118 0.010 None 1.000 1 2020 2020
CUI: C1519653
Disease: Trisomy 4
Trisomy 4 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 0.010 None 1.000 1 2008 2008
CUI: C1859592
Disease: ATRICHIA WITH PAPULAR LESIONS
ATRICHIA WITH PAPULAR LESIONS 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 70 3 0.010 None 1.000 1 2017 2017
CUI: C4479548
Disease: SPECIFIC GRANULE DEFICIENCY 2
SPECIFIC GRANULE DEFICIENCY 2 		disease Disease or Syndrome 2 3 0.300 None 1.000 1 1999 1999
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.010 None 1.000 1 2019 2019
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		phenotype Infections Finding 69 0.100 None 0
CUI: C4023090
Disease: Impaired neutrophil bactericidal activity
Impaired neutrophil bactericidal activity 		phenotype Finding 2 0.100 None 0
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		phenotype Laboratory Procedure 272 452 0.100 None 1.000 2 4 2016 2018
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 3 2016 2016
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.100 None 1.000 11 3 2008 2019
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1096 261 0.400 None 1.000 11 2 2009 2019
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.060 None 1.000 6 2 2013 2019
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 879 168 0.350 None 1.000 6 2 2008 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.050 None 1.000 5 1 1997 2019
CUI: C2697636
Disease: Hyperdiploid B Acute Lymphoblastic Leukemia
Hyperdiploid B Acute Lymphoblastic Leukemia 		disease Neoplastic Process 32 13 0.030 None 1.000 3 1 2015 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2013 2016
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.310 None 0.500 2 2006 2017