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: C1844947
Disease: Death in early childhood
Death in early childhood
phenotype Finding 103 1 0.100 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding)
phenotype Congenital Abnormality 25 0.100 0
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
disease Congenital Abnormality 179 17 0.100 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 332 4 0.100 0
CUI: C1850189
Disease: Large pinnae
Large pinnae
phenotype Finding 133 0.100 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 158 2 0.100 0
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 95 2 0.100 0
CUI: C1305420
Disease: Prominent ear
Prominent ear
phenotype Congenital Abnormality 79 0.100 0
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
phenotype Eye Diseases Finding 338 0.100 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 254 0.100 0
CUI: C1837142
Disease: Poor suck
Poor suck
phenotype Finding 33 0.100 0
CUI: C1834118
Disease: Potato nose
Potato nose
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 82 0.100 0
CUI: C1835884
Disease: Triangular face
Triangular face
phenotype Finding 86 4 0.100 0
CUI: C1836047
Disease: Long face
Long face
phenotype Finding 107 0.100 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 194 35 0.100 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 293 1 0.100 0
CUI: C1837463
Disease: Narrow face
Narrow face
phenotype Finding 62 0.100 0
CUI: C1849121
Disease: Thin face
Thin face
phenotype Finding 62 0.100 0
CUI: C1855751
Disease: Bulbous nasal tip
Bulbous nasal tip
phenotype Finding 82 0.100 0
CUI: C4020884
Disease: Anxiety disease
Anxiety disease
disease Disease or Syndrome 156 0.100 0
CUI: C4020892
Disease: Capuchin ears
Capuchin ears
disease Congenital Abnormality 25 0.100 0
CUI: C4280538
Disease: Curvature of little finger
Curvature of little finger
phenotype Finding 156 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: C4072823
Disease: Broad cranium shape
Broad cranium shape
phenotype Finding 120 0.100 0