CBL, Cbl proto-oncogene, 867

N. diseases: 172; N. variants: 33
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: C0457334
Disease: Acute monoblastic leukemia
Acute monoblastic leukemia 		disease Neoplasms Neoplastic Process 37 5 0.010 None 1.000 1 2018 2018
CUI: C1301355
Disease: Myelodysplastic-Myeloproliferative Diseases
Myelodysplastic-Myeloproliferative Diseases 		group Hemic and Lymphatic Diseases Neoplastic Process 38 1 0.020 None 1.000 2 2012 2012
CUI: C0375021
Disease: Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site
Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 38 0.010 None 1.000 1 1990 1990
CUI: C2981142
Disease: Refractory anemia, without ringed sideroblasts, without excess blasts
Refractory anemia, without ringed sideroblasts, without excess blasts 		disease Hemic and Lymphatic Diseases Disease or Syndrome 38 2 0.010 None 1.000 1 2011 2011
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		group Pathological Conditions, Signs and Symptoms Pathologic Function 39 0.300 None 1.000 1 2010 2010
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype Finding 42 5 0.100 None 0
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 48 9 0.300 None 1.000 1 2010 2010
CUI: C0917731
Disease: Male sterility
Male sterility 		phenotype Male Urogenital Diseases Finding 48 0.300 None 1.000 1 2005 2005
CUI: C0002894
Disease: Refractory anaemia with excess blasts
Refractory anaemia with excess blasts 		disease Hemic and Lymphatic Diseases Neoplastic Process 49 2 0.010 None 1.000 1 2010 2010
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 52 7 0.010 None 1.000 1 2002 2002
CUI: C0410000
Disease: Overlap syndrome
Overlap syndrome 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 57 2 0.010 None 1.000 1 2012 2012
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		group Disease or Syndrome 62 2 0.010 None 1.000 1 2015 2015
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 65 19 0.010 None 1.000 1 2002 2002
CUI: C0279612
Disease: Childhood Embryonal Rhabdomyosarcoma
Childhood Embryonal Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 67 7 0.010 None 1.000 1 2019 2019
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype Finding 67 11 0.100 None 0 1
CUI: C0334663
Disease: Histiocytic sarcoma
Histiocytic sarcoma 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 69 8 0.010 None 1.000 1 2019 2019
CUI: C0423867
Disease: Fine hair
Fine hair 		phenotype Finding 69 1 0.100 None 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 69 11 0.100 None 0 1
CUI: C0848676
Disease: Subfertility, Male
Subfertility, Male 		phenotype Male Urogenital Diseases Sign or Symptom 70 2 0.300 None 1.000 1 2005 2005
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 74 32 0.100 None 0
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 78 3 0.200 None 1.000 1 2013 2013
CUI: C0024282
Disease: Lymphocytosis
Lymphocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 78 1 0.010 None 1.000 1 2014 2014
CUI: C0221217
Disease: Neck webbing
Neck webbing 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 78 19 0.100 None 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 78 14 0.100 None 0 1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 85 187 0.460 strong 1.000 16 4 2009 2016