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: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 3 2016 2016
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: C4023351
Disease: Hyposegmentation of neutrophil nuclei
Hyposegmentation of neutrophil nuclei 		phenotype Cell or Molecular Dysfunction 4 1 0.100 None 0
CUI: C0023453
Disease: L2 Acute Lymphoblastic Leukemia
L2 Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 53 0.300 None 1.000 1 2009 2009
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: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.310 None 0.500 2 2006 2017
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: 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: 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: 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