PQBP1, polyglutamine binding protein 1, 10084

N. diseases: 118; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.020 Biomarker phenotype BEFREE Finally, we demonstrated that in utero gene therapy for Pqbp1-cKO mice by intraperitoneal injection of the PQBP1-AAV vector at E10 successfully rescued microcephaly with preserved cortical structures and improved behavioral abnormalities in Pqbp1-cKO mice, opening a new strategy for treating this intractable developmental disorder. 25070536 2015
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.020 AlteredExpression phenotype BEFREE These results suggested that PQBP1 dysfunction in regulating gene expression might underlie the abnormal behavior and cognition of PQBP1-KD mice and that the recovery of expression of such PQBP1 target genes might improve the symptoms in adult patients. 19661183 2009
CUI: C4025763
Disease: Abnormality of the rib cage
Abnormality of the rib cage 		0.100 Biomarker disease HPO
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		0.100 Biomarker disease HPO
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE The intellectual disability gene PQBP1 rescues Alzheimer's disease pathology. 30283027 2018
CUI: C0003090
Disease: Ankylosis
Ankylosis 		0.100 Biomarker phenotype HPO
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.100 Biomarker disease HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.100 Biomarker disease HPO
CUI: C0004096
Disease: Asthma
Asthma 		0.010 GeneticVariation disease BEFREE Interactions between GST genotypes and SHS exposure or asthma severity with the study outcomes were nonsignificant. 29785881 2018
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.400 Biomarker group HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.400 Biomarker group CTD_human Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 16740914 2006
CUI: C0751603
Disease: Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Hereditary Spastic Paraplegia 		0.300 Biomarker disease CTD_human Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. 14634649 2003
CUI: C0456909
Disease: Blindness
Blindness 		0.100 Biomarker phenotype HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 Biomarker disease HPO
CUI: C0263490
Disease: Brittle hair
Brittle hair 		0.100 Biomarker disease HPO
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.400 Biomarker phenotype HPO
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.400 Biomarker phenotype GENOMICS_ENGLAND The three patients of the first family displayed the typical features underlying PQBP1 such as the long triangular face, bulbous nose, hypoplastic malar region, and micrognathia, which were subsequently confirmed using targeted sequence analysis that showed a previously reported nonsense mutation c.586C>T p.R196*. 30244542 2018
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 Biomarker disease BEFREE Accordingly, PQBP1 and PCK2 are crucial for recurrence and metastasis in OS, and these findings provide a molecular basis for the exploitation of diagnostic and therapeutic strategies for overcoming recurrence and metastasis in OS. 31205570 2019
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 Biomarker disease HPO