Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.040 GeneticVariation BEFREE Using whole-exome sequencing, we identified a novel homozygous mutation (c.991C>T, p.Q331*, NM_006594.4) in AP4B1 in two siblings from a consanguineous Pakistani couple, who presented with severe ID, progressive spastic tetraplegia, epilepsy, and microcephaly. 29430868

2018
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.040 GeneticVariation BEFREE An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. 24781758

2015
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.040 Biomarker BEFREE Recently, mutations affecting all four subunits of AP4 (AP4M1, AP4E1, AP4S1, and AP4B1) have been found to cause similar autosomal recessive phenotype consisting of tetraplegic cerebral palsy and intellectual disability. 24700674

2014
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.040 GeneticVariation BEFREE We propose that AP4B1 mutations cause SPG47 and should be considered in early onset spastic paraplegia with intellectual disability. 22290197

2012