BIN1, bridging integrator 1, 274

N. diseases: 163; N. variants: 24
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: C0349198
Disease: Acute transient psychotic disorder
Acute transient psychotic disorder
disease Pathological Conditions, Signs and Symptoms; Mental Disorders Mental or Behavioral Dysfunction 4 9 0.100 None 1.000 1 1 2012 2012
Myopathy, Centronuclear, Autosomal Recessive
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 6 9 0.730 None 1.000 7 9 2007 2018
CUI: C0231531
Disease: Muscle fibrillation
Muscle fibrillation
phenotype Nervous System Diseases Sign or Symptom 8 0.100 None 0
CUI: C4025785
Disease: Abnormality of the foot musculature
Abnormality of the foot musculature
phenotype Anatomical Abnormality 8 0.100 None 0
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2011 2011
CUI: C3839736
Disease: Sensitization (disorder)
Sensitization (disorder)
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 9 0.010 None 1.000 1 2001 2001
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Finding 12 6 0.100 None 0
Autosomal Dominant Myotubular Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 0.300 None 1.000 1 2007 2007
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 13 0.300 None 1.000 1 2007 2007
Autosomal Recessive Centronuclear Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 0.530 None 1.000 3 2007 2013
Myopathy, Centronuclear, Autosomal Dominant
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 1 0.510 None 1.000 2 2007 2014
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 1 0.310 None 1.000 1 2007 2007
Proximal muscle weakness in upper limbs
phenotype Finding 22 3 0.100 None 0
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 24 4 0.100 None 0
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
phenotype Finding 24 0.100 None 0
Centrally nucleated skeletal muscle fibers
phenotype Finding 25 0.100 None 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 28 0.100 None 0
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.310 None 1.000 2 2007 2009
Proximal muscle weakness in lower limbs
phenotype Finding 30 4 0.100 None 0
CUI: C1858091
Disease: Long fingers
Long fingers
phenotype Finding 32 6 0.100 None 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 33 49 0.300 None 1.000 1 2007 2007
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease Musculoskeletal Diseases Acquired Abnormality 34 0.100 None 0
CUI: C0018920
Disease: Hemangioma, Cavernous
Hemangioma, Cavernous
disease Neoplasms; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 36 4 0.100 None 0
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 37 4 0.100 None 0
CUI: C0560346
Disease: Difficulty running
Difficulty running
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 38 3 0.100 None 0