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 We recently identified a new locus for spastic paraplegia type 47 (SPG47) in a consanguineous Arabic family with two affected siblings with progressive spastic paraparesis,intellectual disability, seizures, periventricular white matter changes and thin corpus callosum. 22290197 2012
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
0.120 Biomarker disease BEFREE A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. 21440262 2011
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
0.120 Biomarker disease HPO