PQBP1, polyglutamine binding protein 1, 10084

N. diseases: 118; N. variants: 7
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: C0031192
Disease: Persistent Ostium Primum
Persistent Ostium Primum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 3 0.300 None 1.000 1 2006 2006
CUI: C0751605
Disease: X-Linked, Spastic Paraplegia, Hereditary
X-Linked, Spastic Paraplegia, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2003 2003
CUI: C0031538
Disease: Phimosis
Phimosis 		phenotype Male Urogenital Diseases Finding 6 0.100 None 0
CUI: C0576227
Disease: Narrow foot
Narrow foot 		phenotype Musculoskeletal Diseases Finding 6 1 0.100 None 0
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 9 0.010 None 1.000 1 1996 1996
CUI: C4721916
Disease: HMSN Type V
HMSN Type V 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2003 2003
CUI: C0751604
Disease: Hereditary X-Linked Recessive Spastic Paraplegia
Hereditary X-Linked Recessive Spastic Paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 1 2003 2003
CUI: C0277960
Disease: Dry hair
Dry hair 		phenotype Finding 12 2 0.100 None 0
CUI: C0003090
Disease: Ankylosis
Ankylosis 		phenotype Musculoskeletal Diseases Pathologic Function 15 0.100 None 0
CUI: C4025763
Disease: Abnormality of the rib cage
Abnormality of the rib cage 		disease Anatomical Abnormality 16 0.100 None 0
CUI: C0796135
Disease: Renpenning syndrome 1
Renpenning syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 5 0.800 definitive 1.000 25 5 1994 2019
CUI: C0751603
Disease: Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Hereditary Spastic Paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 20 0.300 None 1.000 1 2003 2003
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow 		phenotype Finding 20 0.100 None 0
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 23 25 0.010 None 1.000 1 1996 1996
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 27 7 0.300 None 1.000 1 2003 2003
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 35 0.300 None 1.000 3 2003 2006
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 37 10 0.300 None 1.000 1 2006 2006
CUI: C0023882
Disease: Little's Disease
Little's Disease 		disease Nervous System Diseases Disease or Syndrome 37 6 0.100 None 0
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 1 0.310 None 1.000 1 1 2018 2018
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		group Pathological Conditions, Signs and Symptoms Pathologic Function 39 0.300 None 1.000 2 2003 2006
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 1 0.300 None 1.000 3 2003 2006
CUI: C0263490
Disease: Brittle hair
Brittle hair 		disease Disease or Syndrome 45 1 0.100 None 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		phenotype Congenital Abnormality 45 7 0.100 None 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		disease Musculoskeletal Diseases Anatomical Abnormality 55 5 0.100 None 0
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 80 16 0.010 None 1.000 1 2019 2019