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: C0349637
Disease: Common acute lymphoblastic leukemia
Common acute lymphoblastic leukemia
disease Neoplastic Process 43 0.030 None 1.000 3 1995 2002
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD)
disease Disease or Syndrome 133 54 0.030 None 1.000 3 1995 2019
CUI: C0740451
Disease: Granulomatous disorder
Granulomatous disorder
group Disease or Syndrome 26 1 0.020 None 1.000 2 1996 2004
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2018 2018
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
disease Congenital Abnormality 181 4 0.010 None 1.000 1 2014 2014
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
phenotype Laboratory Procedure 139 296 0.100 None 1.000 1 1 2016 2016
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.010 None 1.000 1 2013 2013
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 467 14 0.010 None 1.000 1 2004 2004
CUI: C0476227
Disease: pricking of skin
pricking of skin
phenotype Sign or Symptom 65 1 0.010 None < 0.001 1 1996 1996
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma
disease Disease or Syndrome 48 67 0.010 None 1.000 1 2014 2014
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
phenotype Laboratory or Test Result 139 296 0.100 None 1.000 1 1 2016 2016
Cleft Lip with or without Cleft Palate
disease Congenital Abnormality 99 50 0.010 None 1.000 1 1999 1999
CUI: C1262091
Disease: Lymphocytic infiltration
Lymphocytic infiltration
disease Disease or Syndrome 84 2 0.010 None 1.000 1 1987 1987
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1998 1998
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection
disease Disease or Syndrome 695 94 0.010 None 1.000 1 1992 1992
Hyperdiploid B Acute Lymphoblastic Leukemia
disease Neoplastic Process 32 13 0.010 None 1.000 1 2012 2012
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
disease Disease or Syndrome 632 9 0.010 None 1.000 1 1996 1996
CUI: C0004368
Disease: Autoimmune state
Autoimmune state
phenotype Pathologic Function 70 0.100 None 0
CUI: C0151632
Disease: ESR raised
ESR raised
phenotype Finding 36 0.100 None 0
CUI: C0521173
Disease: Granulomatosis
Granulomatosis
disease Disease or Syndrome 14 1 0.100 None 0
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE
phenotype Finding 108 0.100 None 0
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect
phenotype Finding 61 8 0.100 None 0
CUI: C3805919
Disease: Recurrent intrapulmonary hemorrhage
Recurrent intrapulmonary hemorrhage
phenotype Finding 7 0.100 None 0
BERYLLIUM DISEASE, CHRONIC, SUSCEPTIBILITY TO
phenotype Finding 1 1 0.100 None 0 1