Gene: AP4B1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		0.110 GeneticVariation disease BEFREE Using whole-exome sequencing, we identified a novel homozygous mutation (c.991C>T, p.Q331*, NM_006594.4) in AP4B1 in two siblings from a consanguineous Pakistani couple, who presented with severe ID, progressive spastic tetraplegia, epilepsy, and microcephaly. 29430868 2018
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		0.110 Biomarker disease HPO