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: C0796135
Disease: Renpenning syndrome 1
Renpenning syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 7 0.700 1.000 28 7 1962 2017
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
X-Linked, Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 0.300 1 2004 2004
CUI: C0576227
Disease: Narrow foot
Narrow foot
phenotype Finding 4 0.100 0
CUI: C0345326
Disease: Congenital phimosis
Congenital phimosis
disease Congenital Abnormality 5 0.100 0
Fetus or newborn affected by alcohol transmitted via placenta or breast milk
disease Finding 6 0.010 1.000 1 2015 2015
Hereditary X-Linked Recessive Spastic Paraplegia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 0.300 1 2004 2004
CUI: C0277960
Disease: Dry hair
Dry hair
phenotype Finding 10 0.100 0
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
Hereditary Autosomal Dominant Spastic Paraplegia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 13 3 0.300 1 2004 2004
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow
phenotype Finding 14 0.100 0
CUI: C4025763
Disease: Abnormality of the rib cage
Abnormality of the rib cage
phenotype Anatomical Abnormality 17 0.100 0
CUI: C0023882
Disease: Little's Disease
Little's Disease
disease Nervous System Diseases Disease or Syndrome 20 1 0.100 0
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: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding)
phenotype Congenital Abnormality 25 0.100 0
CUI: C4020892
Disease: Capuchin ears
Capuchin ears
disease Congenital Abnormality 25 0.100 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 32 0.300 3 2004 2006
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality; Disease or Syndrome 32 0.300 3 2004 2006
CUI: C1837142
Disease: Poor suck
Poor suck
phenotype Finding 33 0.100 0
CUI: C1851868
Disease: Reduced tensile strength of hair
Reduced tensile strength of hair
phenotype Finding 35 0.100 0
CUI: C1970705
Disease: Fragile hair
Fragile hair
phenotype Finding 35 0.100 0
CUI: C4072837
Disease: Fractured hair
Fractured hair
phenotype Finding 35 0.100 0
CUI: C0263490
Disease: Brittle hair
Brittle hair
disease Disease or Syndrome 36 0.100 0
CUI: C0018273
Disease: Growth Disorders
Growth Disorders
group Pathological Conditions, Signs and Symptoms Pathologic Function 38 0.300 2 2004 2006
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand
phenotype Anatomical Abnormality 39 0.100 0