CBL, Cbl proto-oncogene, 867

N. diseases: 143; N. variants: 21
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.
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
disease Disease or Syndrome 2 9 0.710 1.000 15 8 2009 2016
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 120 37 0.700 1.000 20 3 2009 2016
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.610 strong 1.000 3 3 2012 2017
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Male Urogenital Diseases Congenital Abnormality 413 15 0.410 1.000 2 2010 2016
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.400 1.000 12 2 2003 2016
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 682 53 0.390 1.000 9 2009 2016
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype Pathologic Function 206 0.300 moderate 4 2009 2011
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 moderate 4 2009 2011
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations
phenotype Mental Disorders Mental or Behavioral Dysfunction 23 0.300 1 2010 2010
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Male Urogenital Diseases Congenital Abnormality 9 0.300 1 2010 2010
CUI: C0021364
Disease: Male infertility
Male infertility
disease Male Urogenital Diseases Disease or Syndrome 262 72 0.300 1 2005 2005
CUI: C0042384
Disease: Vasculitis
Vasculitis
group Cardiovascular Diseases Disease or Syndrome 135 3 0.300 1 2010 2010
CUI: C0018273
Disease: Growth Disorders
Growth Disorders
group Pathological Conditions, Signs and Symptoms Pathologic Function 38 0.300 1 2010 2010
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Male Urogenital Diseases Congenital Abnormality 13 1 0.300 1 2010 2010
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
group Mental Disorders Mental or Behavioral Dysfunction 169 7 0.300 1 2010 2010
CUI: C0848676
Disease: Subfertility, Male
Subfertility, Male
phenotype Male Urogenital Diseases Sign or Symptom 59 0.300 1 2005 2005
CUI: C1563731
Disease: Inguinal Cryptorchidism
Inguinal Cryptorchidism
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Male Urogenital Diseases Finding 9 0.300 1 2010 2010
Child Development Disorders, Specific
group Mental Disorders Mental or Behavioral Dysfunction 23 0.300 1 2010 2010
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Male Urogenital Diseases Congenital Abnormality 20 4 0.300 1 2010 2010
CUI: C0917731
Disease: Male sterility
Male sterility
phenotype Male Urogenital Diseases Finding 46 0.300 1 2005 2005
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 2 0.300 strong 1 2015 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 limited 0
CUI: C0027019
Disease: Myelomonocytic leukemia
Myelomonocytic leukemia
disease Neoplastic Process 30 0.300 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 strong 0
Diabetes Mellitus, Insulin-Dependent
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 955 775 0.200 1 2007 2007