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.
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
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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.500 None 0.980 51 7 2011 2020
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 385 243 0.400 None 1.000 28 5 2011 2020
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 13 0.400 None 1.000 12 2007 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.320 None 1.000 3 2014 2018
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 430 96 0.320 None 1.000 2 2018 2019
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.310 None 1.000 2 2016 2018
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
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 260 95 0.310 None 1.000 2 2011 2013
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.310 None 0.500 2 2011 2013
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
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 67 5 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
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 1 2011 2011
Autosomal Dominant Myotubular Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 0.300 None 1.000 1 2007 2007
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: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 1 2011 2011
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 174 96 0.300 None 1.000 1 1 2011 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.950 20 1996 2019
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
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.100 None 1.000 1 1 2011 2011
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance
phenotype Finding 44 0.100 None 0