RANBP2, RAN binding protein 2, 5903

N. diseases: 110; N. variants: 57
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.
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
phenotype Finding 1 4 0.700 None 1.000 11 4 1989 2016
CUI: C0334121
Disease: Inflammatory Myofibroblastic Tumor
Inflammatory Myofibroblastic Tumor
disease Pathological Conditions, Signs and Symptoms Neoplastic Process 92 2 0.570 None 1.000 7 2003 2019
CUI: C0018199
Disease: Granuloma, Plasma Cell
Granuloma, Plasma Cell
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 2 0.300 None 1.000 1 2010 2010
Acute necrotizing encephalopathy of childhood
disease Disease or Syndrome 3 0.300 None 1.000 1 2010 2010
CUI: C1306587
Disease: Acute encephalopathy
Acute encephalopathy
disease Nervous System Diseases Disease or Syndrome 31 3 0.110 None 1.000 1 2014 2014
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.100 None 0.969 32 1991 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 20 2000 2019
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration
phenotype Finding 20 1 0.100 None 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 86 7 0.100 None 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology
disease Anatomical Abnormality 10 0.100 None 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 197 21 0.100 None 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 0.100 None 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 126 4 0.100 None 0
CUI: C0032285
Disease: Pneumonia
Pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.100 None 0
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein
phenotype Finding 26 1 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C4732790
Disease: Abnormal putamen morphology
Abnormal putamen morphology
phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C0042963
Disease: Vomiting
Vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 303 23 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C0017639
Disease: Gliosis
Gliosis
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 102 3 0.100 None 0
CUI: C4477094
Disease: Abnormal visual fixation
Abnormal visual fixation
phenotype Finding 1 0.100 None 0
CUI: C0006114
Disease: Cerebral Edema
Cerebral Edema
phenotype Nervous System Diseases Pathologic Function 26 0.100 None 0