CUL4B, cullin 4B, 8450

N. diseases: 162; N. variants: 17
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.
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE (disorder)
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.300 definitive 1.000 3 2007 2012
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 10 0.720 definitive 1.000 10 10 1991 2020
CUI: C0554985
Disease: Aggressive outburst
Aggressive outburst
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2 2 0.010 None 1.000 1 2007 2007
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 9 0.100 None 0 1
CUI: C0579144
Disease: Cavovarus deformity of foot
Cavovarus deformity of foot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Anatomical Abnormality 6 2 0.010 None 1.000 1 2010 2010
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe
disease Anatomical Abnormality 9 1 0.100 None 0
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 11 40 0.010 None 1.000 1 2020 2020
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern
disease Anatomical Abnormality 15 1 0.100 None 0
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 19 15 0.010 None 1.000 1 2010 2010
CUI: C4551520
Disease: Intention tremor
Intention tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 20 6 0.010 None 1.000 1 2010 2010
CUI: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal
phenotype Nutritional and Metabolic Diseases Finding 21 0.100 None 0
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature
phenotype Anatomical Abnormality 24 0.100 None 0
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy
disease Nervous System Diseases Disease or Syndrome 26 10 0.010 None 1.000 1 1 2018 2018
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy
disease Disease or Syndrome 29 8 0.100 None 0
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders
phenotype Finding 32 4 0.100 None 0
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus
disease Acquired Abnormality 35 1 0.100 None 0
CUI: C0266061
Disease: Open Bite
Open Bite
phenotype Stomatognathic Diseases Congenital Abnormality 38 0.100 None 0
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 49 19 0.100 None 0
CUI: C0002902
Disease: Anencephaly
Anencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 59 10 0.010 None 1.000 1 2019 2019
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing
phenotype Finding 60 0.100 None 0
CUI: C1840069
Disease: Sandal gap
Sandal gap
phenotype Finding 62 6 0.100 None 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
disease Skin and Connective Tissue Diseases Disease or Syndrome 64 11 0.100 None 0
CUI: C0426415
Disease: Large nose
Large nose
phenotype Finding 70 7 0.100 None 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype Finding 75 24 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype Finding 85 9 0.100 None 0