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: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 179 70 0.800 strong 1.000 29 4 2009 2019
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.500 None 1.000 13 12 2003 2019
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
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 827 60 0.410 None 1.000 2 3 2012 2013
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.410 None 1.000 2 2010 2015
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.400 None 1.000 10 2009 2016
CUI: C0027019
Disease: Myelomonocytic leukemia
Myelomonocytic leukemia
disease Neoplasms Neoplastic Process 36 0.310 None 1.000 1 2018 2018
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: C0042384
Disease: Vasculitis
Vasculitis
disease Cardiovascular Diseases Disease or Syndrome 294 24 0.300 None 1.000 1 2010 2010
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: C0085996
Disease: Child Development Deviations
Child Development Deviations
disease Mental Disorders Mental or Behavioral Dysfunction 29 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: C0917731
Disease: Male sterility
Male sterility
phenotype Male Urogenital Diseases Finding 48 0.300 None 1.000 1 2005 2005
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
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: C4230920
Disease: Fetal hydrops (in some patients)
Fetal hydrops (in some patients)
phenotype Finding 1 0.300 strong 1.000 1 2015 2015
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: 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: C0021364
Disease: Male infertility
Male infertility
phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.300 None 1.000 1 2005 2005
Child Development Disorders, Specific
disease Mental Disorders Mental or Behavioral Dysfunction 30 0.300 None 1.000 1 2010 2010
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: C0020456
Disease: Hyperglycemia
Hyperglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.200 None 1.000 1 2006 2006
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.200 None 1.000 1 2006 2006
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