DTNBP1, dystrobrevin binding protein 1, 84062

N. diseases: 93; N. variants: 22
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: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 147 10 0.100 None 0
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 9 0.100 None 0 1
CUI: C1855853
Disease: Impaired platelet aggregation
Impaired platelet aggregation
phenotype Finding 16 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 37 10 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C0001916
Disease: Albinism
Albinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 46 27 0.100 None 0
CUI: C0014591
Disease: Epistaxis
Epistaxis
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Pathologic Function 82 4 0.100 None 0
CUI: C1533217
Disease: Methamphetamine dependence
Methamphetamine dependence
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 33 9 0.010 None < 0.001 1 1 2015 2015
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.310 None < 0.001 1 2010 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.600 None 0.948 173 13 2002 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 1.000 14 1 2006 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.380 None 1.000 11 2003 2015
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
group Mental Disorders Mental or Behavioral Dysfunction 560 179 0.090 None 1.000 9 3 2005 2015
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis
disease Mental Disorders Mental or Behavioral Dysfunction 376 98 0.070 None 1.000 7 3 2005 2011
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
disease Mental Disorders Mental or Behavioral Dysfunction 641 225 0.340 None 1.000 6 2004 2015
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.060 None 1.000 6 1 2008 2015
CUI: C0004936
Disease: Mental disorders
Mental disorders
group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.350 None 1.000 6 1 2008 2015
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.360 None 1.000 6 2 2004 2015
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.050 None 1.000 5 1 2009 2019
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.050 None 1.000 5 2 2008 2019
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.050 None 1.000 5 1 2008 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.330 None 1.000 4 3 2008 2013