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: C4230920
Disease: Fetal hydrops (in some patients)
Fetal hydrops (in some patients)
phenotype Finding 1 0.300 strong 1.000 1 2015 2015
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
disease Disease or Syndrome 1 4 0.100 None 0 4
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
disease Disease or Syndrome 2 10 0.720 None 1.000 10 9 2008 2017
Malignant Ovarian Germ Cell Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2 2 0.100 None 0 1
CUI: C0795842
Disease: chromosome 11q duplication syndrome
chromosome 11q duplication syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 0.020 None 1.000 2 1994 2000
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 6 2 0.010 None 1.000 1 2013 2013
Myeloproliferative Neoplasm, Unclassifiable
disease Neoplastic Process 8 3 0.010 None 1.000 1 2018 2018
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 8 0.300 None 1.000 1 2010 2010
CUI: C1563731
Disease: Inguinal Cryptorchidism
Inguinal Cryptorchidism
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Finding 8 0.300 None 1.000 1 2010 2010
CUI: C0588125
Disease: Nodular tenosynovitis
Nodular tenosynovitis
disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 10 0.010 None 1.000 1 2019 2019
Fibrous histiocytoma of tendon sheath
disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 13 0.010 None 1.000 1 2019 2019
CUI: C0032827
Disease: Potassium Deficiency
Potassium Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 14 0.020 None 1.000 2 2017 2018
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 17 5 0.300 None 1.000 1 2010 2010
Core binding factor acute myeloid leukemia
disease Neoplasms Neoplastic Process 18 3 0.020 None 1.000 2 2013 2015
CUI: C0033027
Disease: Preleukemia
Preleukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 19 0.010 None 1.000 1 2016 2016
CUI: C0279629
Disease: Adult Acute Monoblastic Leukemia
Adult Acute Monoblastic Leukemia
disease Neoplasms Neoplastic Process 19 5 0.010 None 1.000 1 2018 2018
Childhood Acute Monoblastic Leukemia
disease Neoplastic Process 19 5 0.010 None 1.000 1 2018 2018
CUI: C4528176
Disease: High Risk Myelodysplastic Syndrome
High Risk Myelodysplastic Syndrome
disease Hemic and Lymphatic Diseases Neoplastic Process 19 0.010 None 1.000 1 2011 2011
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 23 83 0.100 None 0 1
CUI: C0856053
Disease: Leukemia secondary
Leukemia secondary
disease Neoplastic Process 24 4 0.010 None 1.000 1 2012 2012
Jacobsen Distal 11q Deletion Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 28 2 0.060 None 0.667 6 1994 2012
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations
disease Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2010 2010
Child Development Disorders, Specific
disease Mental Disorders Mental or Behavioral Dysfunction 30 0.300 None 1.000 1 2010 2010
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus
disease Acquired Abnormality 35 1 0.100 None 0
CUI: C0027019
Disease: Myelomonocytic leukemia
Myelomonocytic leukemia
disease Neoplasms Neoplastic Process 36 0.310 None 1.000 1 2018 2018