Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 162
Gene Symbol: AP1B1
AP1B1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. 31630791

2019