PQBP1, polyglutamine binding protein 1, 10084

N. diseases: 139; N. variants: 8
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: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 371 46 0.020 1.000 2 2010 2015
CUI: C4025763
Disease: Abnormality of the rib cage
Abnormality of the rib cage
phenotype Anatomical Abnormality 17 0.100 0
CUI: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype Acquired Abnormality 417 8 0.100 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 63 1 0.100 0
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 463 69 0.110 1.000 1 2010 2010
CUI: C4020884
Disease: Anxiety disease
Anxiety disease
disease Disease or Syndrome 156 0.100 0
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 395 79 0.010 1.000 1 2010 2010
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype Anatomical Abnormality 396 0.100 0
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 65 2 0.100 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 164 18 0.400 1 2006 2006
Autosomal Recessive Hereditary Spastic Paraplegia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 12 0.300 1 2004 2004
CUI: C0456909
Disease: Blindness
Blindness
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 163 11 0.100 0
CUI: C0271215
Disease: Blindness, Legal
Blindness, Legal
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 157 0.100 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 129 1 0.100 0
CUI: C0263490
Disease: Brittle hair
Brittle hair
disease Disease or Syndrome 36 0.100 0
CUI: C4072823
Disease: Broad cranium shape
Broad cranium shape
phenotype Finding 120 0.100 0
CUI: C1839764
Disease: Broad flat nasal bridge
Broad flat nasal bridge
phenotype Finding 329 0.100 0
CUI: C1855751
Disease: Bulbous nasal tip
Bulbous nasal tip
phenotype Finding 82 0.100 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose
phenotype Finding 82 0.100 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital Abnormality 279 6 0.100 0
CUI: C4020892
Disease: Capuchin ears
Capuchin ears
disease Congenital Abnormality 25 0.100 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 518 42 0.100 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Disease or Syndrome 337 21 0.100 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion
disease Stomatognathic Diseases Congenital Abnormality 107 3 0.100 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 158 2 0.100 0