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: C0026499
Disease: Monosomy
Monosomy 		group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.010 None 1.000 1 2012 2012
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		disease Hemic and Lymphatic Diseases Disease or Syndrome 220 37 0.020 None 0.500 2 2012 2012
CUI: C0086437
Disease: Joint laxity
Joint laxity 		phenotype Musculoskeletal Diseases Pathologic Function 224 15 0.100 None 0
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 1 2016 2016
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 234 19 0.100 None 0
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma 		disease Neoplastic Process 245 9 0.010 None 1.000 1 2013 2013
CUI: C0026948
Disease: Mycosis Fungoides
Mycosis Fungoides 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 251 8 0.010 None 1.000 1 2017 2017
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 251 94 0.100 None 0 1
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		phenotype Laboratory Procedure 265 457 0.100 None 1.000 2 4 2011 2016
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36 0.100 None 0 1
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 282 29 0.010 None < 0.001 1 2012 2012
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 16 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 38 0.030 None 0.667 3 2012 2012
CUI: C0042384
Disease: Vasculitis
Vasculitis 		disease Cardiovascular Diseases Disease or Syndrome 294 24 0.300 None 1.000 1 2010 2010
CUI: C0005699
Disease: Blast Phase
Blast Phase 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 299 14 0.010 None 1.000 1 2011 2011
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders 		group Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 300 14 0.020 None 1.000 2 2002 2019
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		disease Hemic and Lymphatic Diseases Disease or Syndrome 340 11 0.010 None 1.000 1 2011 2011
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 344 16 0.200 None 1.000 1 2008 2008
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.300 None 1.000 1 2010 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 7 1 2010 2017
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		group Hemic and Lymphatic Diseases Neoplastic Process 365 43 0.100 None 1.000 10 2009 2015
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 366 47 0.100 None 0.909 11 2009 2016
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 367 5 0.020 None 1.000 2 2015 2017