RERE, arginine-glutamic acid dipeptide repeats, 473

N. diseases: 215; N. variants: 48
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.
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
disease Disease or Syndrome 2 11 0.710 None 1.000 3 11 2015 2018
CUI: C1842870
Disease: Chromosome 1p36 Deletion Syndrome
Chromosome 1p36 Deletion Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 6 0.310 None 1.000 1 2016 2016
Polyarthritis, Juvenile, Rheumatoid Factor Positive
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 131 0.300 None 1.000 1 2009 2009
CUI: C3714758
Disease: Juvenile psoriatic arthritis
Juvenile psoriatic arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 138 0.300 None 1.000 1 2009 2009
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 171 41 0.300 None 1.000 1 2009 2009
Polyarthritis, Juvenile, Rheumatoid Factor Negative
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 131 0.300 None 1.000 1 2009 2009
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 450 128 0.300 None 1.000 1 2009 2009
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.110 None 1.000 7 9 2013 2019
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.110 None 1.000 1 2018 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.100 None 1.000 8 6 2013 2019
CUI: C0042900
Disease: Vitiligo
Vitiligo
disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.100 None 1.000 4 3 2010 2016
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.100 None 1.000 4 5 2018 2019
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
phenotype Immune System Diseases Pathologic Function 197 1019 0.100 None 1.000 3 3 2016 2018
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 2 2 2016 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 2 2 2016 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 2 2 2019 2019
Child Development Disorders, Pervasive
group Mental Disorders Mental or Behavioral Dysfunction 168 379 0.100 None 1.000 2 2 2013 2017
body fat percentage (physical finding)
phenotype Finding 56 98 0.100 None 1.000 1 1 2019 2019
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.100 None 1.000 1 1 2018 2018
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder)
disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 446 176 0.100 None 1.000 1 1 2018 2018
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 1.000 1 1 2013 2013
CUI: C0021704
Disease: Intelligence
Intelligence
phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 1 2019 2019
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases
group Respiratory Tract Diseases Disease or Syndrome 198 109 0.100 None 1.000 1 1 2019 2019
CUI: C0037369
Disease: Smoking
Smoking
phenotype Behavior and Behavior Mechanisms Individual Behavior 391 765 0.100 None 1.000 1 1 2019 2019
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018