Source: ALL

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 Biomarker HPO

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