Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
0.120 GeneticVariation disease BEFREE The cohort consists of three families with spastic paraplegia type 47 (AP4B1) with a common mutation in two families, a family with spastic paraplegia type 50 (AP4M1), and two male siblings with X-linked spastic paraplegia 2 (PLP1). 30337681 2019
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
0.120 GeneticVariation disease BEFREE We propose that AP4B1 mutations cause SPG47 and should be considered in early onset spastic paraplegia with intellectual disability. 22290197 2012
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
0.120 Biomarker disease HPO