Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.120 GeneticVariation BEFREE Our investigations identified loss-of-function mutations in AP4S1/SPG52 in four children (three families) who had previously received a diagnosis of diplegic/quadriplegic CP. 27444738

2016

Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.120 GeneticVariation BEFREE We systematically analyzed the association of the AP4E1, AP4B1, AP4M1, and AP4S1 genes with CP on the basis of clinical characteristics. 24065543

2013

Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.120 Biomarker HPO