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: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 6 0.700 None 1.000 6 6 2003 2016
CUI: C4331952
Disease: STAT5B Deficiency
STAT5B Deficiency 		disease Disease or Syndrome 1 0.030 None 1.000 3 2007 2012
CUI: C0023494
Disease: Leukemia, T-Cell, Chronic
Leukemia, T-Cell, Chronic 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 4 0.300 None 1.000 1 2018 2018
CUI: C0236175
Disease: Increased IgE level
Increased IgE level 		phenotype Finding 4 6 0.100 None 0 3
CUI: C1955860
Disease: Leukemia, Natural Killer Cell Large Granular Lymphocytic
Leukemia, Natural Killer Cell Large Granular Lymphocytic 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 5 0.300 None 1.000 2 2015 2018
CUI: C0684913
Disease: Chemical-induced asthma
Chemical-induced asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C4072897
Disease: Decreased serum insulin-like growth factor 1
Decreased serum insulin-like growth factor 1 		phenotype Finding 9 3 0.100 None 0 3
CUI: C0263662
Disease: Disseminated eosinophilic collagen disease
Disseminated eosinophilic collagen disease 		disease Skin and Connective Tissue Diseases Disease or Syndrome 14 2 0.010 None 1.000 1 1 2019 2019
CUI: C0857305
Disease: Thrombocytopenic purpura
Thrombocytopenic purpura 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 15 0.010 None 1.000 1 2010 2010
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 17 2 0.020 None 1.000 2 1999 1999
CUI: C1512709
Disease: Chronic Lymphoproliferative Disorder of NK-Cells
Chronic Lymphoproliferative Disorder of NK-Cells 		disease Pathological Conditions, Signs and Symptoms Neoplastic Process 17 0.010 None 1.000 1 2018 2018
CUI: C2931322
Disease: T-Lymphocytopenia
T-Lymphocytopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Finding 17 0.300 None 1.000 1 2006 2006
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		disease Disease or Syndrome 17 0.010 None 1.000 1 2013 2013
CUI: C4042906
Disease: Mammary Analogue Secretory Carcinoma
Mammary Analogue Secretory Carcinoma 		disease Neoplasms Neoplastic Process 17 0.010 None 1.000 1 2015 2015
CUI: C0025874
Disease: Metrorrhagia
Metrorrhagia 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function 17 2 0.100 None 0
CUI: C0239134
Disease: Productive Cough
Productive Cough 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 17 0.100 None 0
CUI: C4552938
Disease: Productive Cough, CTCAE
Productive Cough, CTCAE 		phenotype Finding 17 0.100 None 0
CUI: C4022608
Disease: Oral cavity bleeding
Oral cavity bleeding 		phenotype Pathologic Function 18 0.100 None 0
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome 		disease Hemic and Lymphatic Diseases Disease or Syndrome 19 2 0.010 None 1.000 1 1 2019 2019
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 19 11 0.100 None 0 3
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 20 26 0.030 None 1.000 3 1997 2016
CUI: C0008707
Disease: Chronic osteomyelitis
Chronic osteomyelitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 21 12 0.010 None 1.000 1 2019 2019
CUI: C4476767
Disease: Diffuse alveolar hemorrhage
Diffuse alveolar hemorrhage 		disease Disease or Syndrome 21 0.100 None 0
CUI: C0376407
Disease: Granulomatous Slack Skin
Granulomatous Slack Skin 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 22 0.300 None 1.000 1 2015 2015
CUI: C3809768
Disease: IMMUNODEFICIENCY 13
IMMUNODEFICIENCY 13 		disease Disease or Syndrome 22 1 0.010 None 1.000 1 2012 2012