Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.130 GeneticVariation BEFREE A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency. 25496299

2014
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.130 GeneticVariation BEFREE Interestingly, two mutations affecting AP4M1 and AP4E1 have recently been found to cause cerebral palsy associated with severe intellectual disability. 21620353

2011
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.130 GeneticVariation BEFREE Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. 19559397

2009
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.130 Biomarker HPO