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: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 518 42 0.100 0
CUI: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype Acquired Abnormality 417 8 0.100 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand
phenotype Anatomical Abnormality 39 0.100 0
CUI: C0302501
Disease: Mandibular hyperplasia
Mandibular hyperplasia
phenotype Anatomical Abnormality 101 0.100 0
CUI: C1857130
Disease: Hypoplastic mandible condyle
Hypoplastic mandible condyle
phenotype Anatomical Abnormality 394 0.100 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
phenotype Anatomical Abnormality 159 1 0.100 0
CUI: C2051831
Disease: Pectus excavatum
Pectus excavatum
phenotype Anatomical Abnormality 140 5 0.100 0
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype Anatomical Abnormality 396 0.100 0
CUI: C4025763
Disease: Abnormality of the rib cage
Abnormality of the rib cage
phenotype Anatomical Abnormality 17 0.100 0
CUI: C4476523
Disease: Decreased projection of lower jaw
Decreased projection of lower jaw
phenotype Anatomical Abnormality 394 0.100 0
CUI: C4476524
Disease: Decreased projection of mandible
Decreased projection of mandible
phenotype Anatomical Abnormality 394 0.100 0
CUI: C4476525
Disease: Retrusion of lower jaw
Retrusion of lower jaw
phenotype Anatomical Abnormality 394 0.100 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 234 3 0.550 strong 1.000 7 2004 2015
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
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 221 8 0.010 1.000 1 2007 2007
CUI: C0031192
Disease: Persistent Ostium Primum
Persistent Ostium Primum
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 4 0.300 1 2006 2006
Ostium secundum atrial septal defect
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 23 3 0.300 1 2006 2006
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital Abnormality 115 9 0.300 strong 1 2004 2004
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: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 65 2 0.100 0
Congenital ocular coloboma (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 107 11 0.100 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 225 20 0.100 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 399 4 0.100 0
CUI: C0026034
Disease: Microstomia
Microstomia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 106 0.100 0
CUI: C0037221
Disease: Situs Inversus
Situs Inversus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 83 5 0.100 0